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An exploration of symmetry in early autism spectrum disorders: Analysis of lying
Abstract
Early identification of children with autism spectrum disorders (ASD) is recognized as a critical aspect of their medical management and treatment. Movement disorders are considered one of the first signs which probably precede social or linguistic abnormalities. Objectives: to verify, through observational methods, the possibility of distinguishing infants with ASD from infants with typical development or with mental retardation by movement.
The Eshkol-Wachman movement analysis system, which analyses static symmetry (SS) and dynamic symmetry (DS) during lying, was applied to retrospective home videos regarding the first 5 months of life of children with ASD (n=18), typical development (n=18), or developmental delay (n=12).
Significant differences between ASD and the two control groups were found for both SS (p<.001) and DS (p<.01). Within ASD two groups of infants could be differentiated on the basis of the higher (HLS) or the lower (LLS) levels of symmetry. Early onset ASD are more likely to belong to the LLS group.
We suggest that motor functioning may define specific subgroups of early ASD which are related to different pathways to the syndrome. LLS could be used as an early indicator of potential autism since the first months of life.
... Nonetheless, the diagnosis of autism is currently made between the ages of 3 and 10 years worldwide [6], due to the reliance on social and communicative elements that are fully developed only within the second year of life. Despite the fact that motor symptoms have recently been the focus of intense research [7][8][9], they are not yet part of the official symptoms listed in DSM5 and are not used as diagnosis criteria [1]. ...
... Over the past two decades, motor components have increasingly become a focus of attention in ASD research [7][8][9]. It is now known that motor and coordination deficiencies are present in about 87% of individuals with ASD [13], and many have difficulties in their ability to execute coordinated motor actions, resulting in slow, clumsy, or inaccurate motor performance and motor-learning difficulties. ...
... Multiple studies have been conducted using video analysis of infants later diagnosed with ASD. Esposito et al. [8] analyzed home videos of children aged 4-5 months in a supine position who were later diagnosed with ASD. These videos were compared to infancy videos of children presenting typical development. ...
Autism spectrum disorder (ASD) has been intensely investigated since the term was first used over 80 years ago. The prevalence of ASD is constantly rising, and, currently, 1:36 children are diagnosed with this disorder. Despite the intense interest in ASD, the origins of this disorder remain obscure. This article explores motor issues and proprioceptive interoception difficulties as the prodrome of ASD. The importance of early intervention in the prognosis of ASD is common knowledge. Yet, since the communicational and social behaviors typical of ASD are observable only after the age of 18 months, diagnosis and early intervention are delayed. Therefore, the quest into the involvement of sensory–motor difficulties as a source of ASD traits, or at least as a potential early indicator, is warranted, with the intention of enabling early diagnosis and early intervention. This article examines the justification for this new avenue of early diagnosis and intervention and may open up a completely different way of viewing ASD. This new point of view may suggest an original path of assessment and intervention in infancy with this group of clients, possibly leading to improved prognosis for children and their families.
... 1,2 A diagnosis of ASD requires a deviance of social, language, and motor behaviors that may not be easily identifiable in infancy or toddlerhood, therefore, making early diagnosis a challenge. 1,3,4 Gross motor delay has been proposed as a potential early indicator of ASD, [5][6][7][8] with head lag during a pull-to-sit maneuver identified as a specific early motor sign. 9 Other studies have identified motor abnormalities such as impaired visual gaze and tracking, asymmetric arm movements and postures, and abnormal spontaneous general movements, 5,6,10,11 although there is poor consensus on the validity of these findings as early characteristics of ASD. ...
... 1,3,4 Gross motor delay has been proposed as a potential early indicator of ASD, [5][6][7][8] with head lag during a pull-to-sit maneuver identified as a specific early motor sign. 9 Other studies have identified motor abnormalities such as impaired visual gaze and tracking, asymmetric arm movements and postures, and abnormal spontaneous general movements, 5,6,10,11 although there is poor consensus on the validity of these findings as early characteristics of ASD. Early diagnosis of ASD is critical to establishing early, ASD-specific intervention programing during sensitive periods of childhood development. ...
... These declining Bayley-III scaled scores for the ASD group from time 2 to time 3 were larger and more significant compared with the control group, which differentiated developmental performance of the groups. Gross motor delay has been proposed as a potential early indicator of ASD in the first year of life [5][6][7] ; however, our findings at time 1 and time 2 using the TIMP and gross motor subtest of the Bayley-III do not support this hypothesis. In contrast, the statistically significant change in the ASD group' s Bayley-III gross motor scaled scores from time 2 to time 3 administrations in our study, with a progression from average to below average classification, is consistent with other studies demonstrating a decline in gross motor performance through the toddler and childhood years of children with ASD. ...
Purpose:
We hypothesized that clinical data from a neonatal intensive care unit (NICU) infant developmental follow-up clinic would identify early manifestations of autism spectrum disorder (ASD).
Methods:
One hundred forty-four infants were identified; 72 later diagnosed with ASD and 72 controls. Retrospective chart review provided data from the Test of Infant Motor Performance (TIMP) and the Bayley Scales of Infant and Toddler Development, third edition (Bayley-III), between 8 and 26 months of age.
Results:
Between-group comparisons indicated no significant group difference in TIMP scores; however, Bayley-III scaled scores differed between the groups at 2 administration times. The within-group Bayley-III change scores declined significantly more for the ASD group in cognitive and communication subtests.
Conclusion:
High-risk neonates, due to prematurity or morbidity, later diagnosed with ASD demonstrated statistically significant differences, including a more precipitous drop in Bayley-III scores over time. Early, longitudinal developmental surveillance for neonates at risk of ASD is critical. What this adds to the evidence: Early identification of ASD is critical to optimize developmental outcomes in young children, including infants born prematurely or with neonatal morbidity, who are perceived to have an increased risk for ASD. Despite these findings, minimal research has been conducted to evaluate the utility of commonly administered norm-referenced developmental surveillance instruments to identify possible early signs of ASD in this high-risk population due to prematurity or neonatal morbidity and not familial association. The present study analyzed retrospectively collected clinical data from a NICU developmental follow-up clinic for 144 infants, 72 of which were later diagnosed with ASD and 72 sex- and gestational age-matched controls. Results demonstrated statistically significant poorer Bayley-III outcomes for the ASD group compared with controls at 2 different study time points, including a more precipitous drop in Bayley-III scaled scores over time. This study highlights the importance of early and longitudinal developmental surveillance for high-risk neonates at risk of ASD.
... Studies have demonstrated that the acoustic properties of newborn cries can be influenced by neurodevelopmental disorders like autism and epilepsy. As an example, crying patterns that are atypical for infants with autism tend to be higher pitched and last longer (Esposito et al., 2017) [17]. Bolton et al. (2011) [18] discovered that infants suffering from epilepsy frequently exhibit characteristic crying patterns, which include high-pitched cries accompanied by abrupt changes in intensity. ...
... Studies have demonstrated that the acoustic properties of newborn cries can be influenced by neurodevelopmental disorders like autism and epilepsy. As an example, crying patterns that are atypical for infants with autism tend to be higher pitched and last longer (Esposito et al., 2017) [17]. Bolton et al. (2011) [18] discovered that infants suffering from epilepsy frequently exhibit characteristic crying patterns, which include high-pitched cries accompanied by abrupt changes in intensity. ...
Crying is an important means of communication for babies during infancy, from birth to three months of age”. “At this stage of their development, infants are almost entirely dependent on the people who care for them. As a result, crying plays an important role for the survival, health, and development of the child”. This paper explores the relationship between autism, epilepsy, and crying patterns in newborn infants. The objective is to investigate the potential of analyzing acoustic features of infant cries as a non-invasive method for early detection and diagnosis of these neurodevelopmental disorders. By utilizing machine learning algorithms, a predictive model can be developed to differentiate between typical cries and those indicative of autism or epilepsy. To conduct this research, a specific dataset comprising crying sounds from newborns diagnosed with autism, epilepsy, and typically developing infants is utilized. Acoustic features, including pitch, intensity, and duration, are extracted from the cry recordings. These features are then used to train machine learning models, such as support vector machines (SVMs) or artificial neural networks (ANNs), enabling the classification of cries into distinct categories. The developed model's accuracy and generalizability are assessed using cross-validation techniques and evaluation metrics such as sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC-ROC). Additionally, the model's reliability and applicability in real-world scenarios are validated using an independent dataset.
... Multiple researchers have proposed that early signs of ASD-related impairments may first manifest within the motor system and present as a motor delay (Ozonoff et al., 2008;Esposito et al., 2009;Flanagan et al., 2012). Motor skills development is part of those areas indicative of harmonious and healthy development. ...
... Cranial circumference, various scientific evidence has emphasized an accelerated increase in the circumference of the cranium taking place within the first 2 months of life with a significant surge in this increase from 3 to 5 months of life (Muratori et al., 2009). ...
A baby’s first year of life is a time of immense development and cerebral plasticity. Following today’s research and clinical observation, the period of the first year of life provides a new challenge inasmuch it is presently clear that it is possible to identify developmental anomalies in this window of time. Effecting early screening procedures could prove very useful, especially where we find genetic vulnerabilities in brothers and sisters of autistic subjects. Interventions of this kind, already practiced by some Public Health systems, can mean taking early action and primary protective measures with significant impacts not only on the subjects (babies and family members) concerned, but also on the public purse. It is, therefore, essential to provide for specific professionalized procedures for psychologists, pediatricians and neuropsychologists to be introduced through personnel highly specialized in interventions during the first year of life.
... These investigators noted asymmetrical movement patterns present at birth, seen in "lying" (i.e., in a prone position), and at later ages in righting (when rolling from back to stomach), sitting, crawling, and walking. Similarly, Esposito, Venuti, Maestro, and Muratori (2009) noted significantly less static and dynamic symmetry in the supine position in infants (aged 12-21 weeks). ...
... Sacrey et al. (2015) found that parents noted differences in motor, sensory, and play as early as 6-9 months of age; however, concerns related to communication did not differentiate the children who were diagnosed with ASD until their second year of life. In addition, parental observations of asymmetrical movement patterns in children later diagnosed with ASD have been reported in young infants in prone (Teitelbaum et al., 1998) and supine (Esposito et al., 2009) positions in the first months of life. Parents and providers have also noticed the presence of hypotonia in children later identified with autistic traits, recognized as early as 9-20 weeks of age (Serdarevic et al., 2017). ...
The cardinal features of autism spectrum disorder (ASD) are recognized to include impairments in communication, social interactions, and restricted, repetitive behaviors and stereotyped interests. However, many children with ASD also have motor activity limitations that are often overlooked. The purpose of this review is to summarize the literature on neuromotor impairment and motor activity limitation in children with ASD. A literature search was conducted of citations from 1998 through 2021 using PubMed, EMBASE, and PsycINFO. Twenty-three search terms were used to encompass diverse articles focused on children with autism and motor activity. The search resulted in 78 articles that included the search terms and were also consistent with the aims of this literature review. The potential significance of motor activity limitations on development from an early age is explored and recommendations are offered for more holistic surveillance in children with ASD, which can facilitate early access to services when indicated.
... Could it be that these fluid, rhythmic movements are reduced in autistic infants because of a significantly reduced number of symmetrical, static and dynamic, positions? In one study (Esposito et al., 2009) we observed the prevalence of asymmetrical positions in infants before the twentieth week when they are in the "lying down" position ordinarily an active and variable position permitting for the stabilization of the trunk and head, and greater freedom of movement in the upper extremities. In our view, the low level of symmetry between 3 and 5 months represents the motor expression of atypical brain development viz. ...
... The disruption of general movements (Einspieler et al., 2014) and spontaneous hand movements, the persistence of archaic reflexes (P Teitelbaum et al., 1998), and prevalence of asymmetric postures (Esposito et al., 2011(Esposito et al., , 2009, and finally the global reduction of motor activity both to respond and to provoke have many "knock-on" effects on early intersubjective functioning, that is, on the large number of feedback loops that usually allow to co-construct circles of communication from the first weeks of life. Baby's motor skills become incomprehensible to others and the duration of episodes of tuning rapidly diminish. ...
Early Autism is presented as a dynamic disorder of early infancy, marked by disruption to the sensory-motor capacity for making affective contact and later, the development of an atypical social communicative style–making the child incomprehensible to others. Drawing on our own group–and others’ research–we review how some core features of early autism unfold in early development, focusing on: 1) preferential attention for objects over people which affects the development of an infant’s intersubjectivity and paves the way for restricted interests; 2) reduced motor variability which results in increased repetitive movements of hands and fingers, hindering their use for affective communication; 3) modification of parent–child interaction style as an early sign–and potential modifier–of the atypical formation of the interpersonal world of the autistic infant.
... I přesto se ale zpoždění motorického vývoje a jeho deficity nemusí objevovat u každého jedince s PAS (Dewey et al., 2007). Snad také z tohoto důvodu není motorické zpoždění základním diagnostickým prvkem PAS (Esposito et al., 2009), ani jedním z diagnostických kritérií (MKN-10, 2021), ačkoliv zejména v zahraniční literatuře je na tento fakt často poukazováno. (Liu, 2012) Zprávy o netypickém motorickém vývoji a projevu dětí s PAS lze najít již v původním článku rakousko-amerického psychiatra Lea Kannera z roku 1943, kde bylo na toto zpoždění v motorickém vývoji v souvislosti s PAS poprvé upozorněno (Kanner, 1943). ...
... Vzhledem k vysoké četnosti výskytu motorických obtíží u dětí s PAS (Esposito et al., 2009;Green et al., 2009;Hilton et al., 2012;Wilson, 2018) a prudce celosvětově vzrůstající prevalenci tohoto onemocnění v populaci (APA, 2015), stoupá potřeba tvorby a aplikace funkčních intervenčních programů pro zmírnění dopadu negativních důsledků na jedince s PAS, i celou společnost. Základním předpokladem a východiskem pro takovou činnost je efektivní diagnostika motorických kompetencí a hodnocení úrovně pohybových dovedností těchto dětí v běžné praxi, širokým spektrem uživatelů. ...
Introduction: With the sharply increasing prevalence of autism spectrum disorder (ASD) in the Czech Republic and worldwide, the need for comprehensive care for children with ASD is also growing in education. In most cases, ASD is associated with impaired motor skills and delayed motor development. A necessary prerequisite for creating and applying appropriate intervention programs and individual educational plans is the possibility of accurate diagnostics of the motor level.
Research methods: In the deliberate selection of children with ASD aged 7-10 years, motor diagnostics were performed using the internationally recognized MABC-2 test. Participants' reactions were noted.
Results: The process and administration of the MABC-2 trial in children with ASD aged 7-10 years require adjustments to increase the feasibility of the test and it's diagnostic possibilities.
Conclusions: Children with ASD manage testing concerning the modifications in the administration process, which use the basic principles of structured learning: Individualization, Structuring, Visualization, and Motivation. Further verification of the proposed process modifications and the standardized MABC-2 motor test administration in children with ASD aged 7-10 years is required.
... Low birth weight and premature birth are implicated in a higher risk of impaired social interaction and communication in adulthood [1]. Motor deficits are a specific subgroup of early autism spectrum disorders [2]. Autism spectrum disorders are neurodevelopmental disorders characterized by repetitive and restrictive behavior in social interaction and communication [3]. ...
... Many studies reported that reduced memory function was observed in the valproic acid-induced autism model [2,11,19]. Autism is a neurodevelopmental disorder characterized by repetitive behavior, leading to poor social interaction and cognitive dysfunction [26,27]. Exposure to valproic acid delayed growth and development and caused cognitive impairment or neurological disorders [28]. ...
Purpose:
Wnt pathway is closely related to neurodevelopmental process associated with cognitive function. After administration of valproic acid to the pregnant mice, the effect of swimming exercise of pregnant mice on the memory, neuronal production, and apoptosis of pups was studied in relation with Wnt/β-catenin signaling pathway.
Methods:
On day 12 of pregnancy, mice were injected subcutaneously with 400-mg/kg valproic acid. The pregnant mice in the control with swimming exercise group and in the valproic acid injection with swimming exercise group were allowed for swimming for 30 minutes one time per a day, repeated 5 days per a week, during 3 weeks. Step-through avoidance task and Morris water maze task for memory function, immunohistochemistry for 5-bromo-2'-deoxyuridine (BrdU)-positive cells and western blot for brain-derived neurotrophic factor (BDNF), Wnt, β-catenin, Bcl-2 related X protein (Bax), B-cell lymphoma 2 (Bcl-2), cleaved caspase-3 were carried out.
Results:
Maternal swimming exercise during pregnancy improved memory function, increased BDNF expression, and neuronal proliferation in the valproic acid injected pups. Maternal swimming exercise during pregnancy suppressed Wnt expression and phosphorylation of β-catenin in the valproic acid injected pups. Maternal swimming exercise inhibited Bax and cleaved caspase-3 expression and increased Bcl-2 expression in the valproic acid injected pups.
Conclusion:
Maternal swimming exercise during pregnancy improved memory function by increasing cell proliferation and inhibiting apoptosis through Wnt/β-catenin signaling cascade activation in the valproic acid injected pups. Maternal swimming exercise during pregnancy may have a protective effect on factors that induce autism in the fetus.
... Early delays in motor development are often one of the first signs an infant is on a pathway for atypical neurodevelopment (LeBarton & Iverson, 2016). Unlike other neurocognitive domains, infants are born with a rich repertoire of voluntary and involuntary movements that can be evaluated from birth, allowing delays in motor development to be assessed prior to the emergence of delays in other domains (Einspieler et al., 2014;Esposito & Pasca, 2013;Esposito et al., 2009). While not currently considered within the diagnostic framework of autism spectrum disorder (ASD, autism), early motor difficulties are proposed to be one of the earliest signs of a potential future diagnosis of autism (Libertus et al., 2014). ...
... A number of studies have noted deviations from typical motor patterns, movement sequences, and postural control in early development of autistic individuals (Esposito et al., 2009;Flanagan et al., 2012;Nickel et al., 2013). For example, high rates of abnormal spontaneous early movements and motor patterns have been observed in children who later received an autism diagnosis (Einspieler et al., 2014;LeBarton & Landa, 2019). ...
This study aimed to explore the rates of motor difficulties in children from the Australian Autism Biobank, and how early motor concerns impacted on children functionally. Children with autism aged 2–7 years, including 441 with a Vineland Adaptive Behavior Scale (VABS-II) motor subscale and 385 with a Mullen Scales of Early Learning (MSEL) fine motor subscale were included (n total = 514; 80% male). Approximately 60% of children on the MSEL and ~ 25% on the VABS-II had clinically significant motor impairments. More children with delayed sitting and walking motor milestones had early childhood parent reported motor difficulties (p < 0.001). Early motor delays or concerns may assist identifying individuals who will likely benefit from early ongoing developmental monitoring and early support.
... Furthermore, a relationship between the qualitative abnormality of GMs, ID 13,14 , and ASD [15][16][17] has been reported, but its accuracy is still inadequate compared with that of the relationship with CP. Regarding ID and ASD, observing the various behavioural characteristics rather than the qualitative abnormalities of GMs may be useful as an early sign [18][19][20][21][22][23][24][25][26] . ...
... (3) All items that showed a significant difference in the appearance rate were related to the movement of the neck and distal part of the upper and lower limbs. Previous studies that examined early signs of ASD by assessing the characteristics of spontaneous movements, posture, and behaviour reported features, such as abnormal upper extremity muscle tone 21 , postural asymmetries during lying 18,20 , head-lag during the pull-to-sit transition 23 , oral-motor abnormalities 22 , motor developmental delay in early infancy 24 , qualitative abnormalities in GMs 16,17 , poorer performance in maintaining the midline position of the head 26 , and lower motion complexity in legs 34 . All these early signs of ASD have been observed after 3 months of age. ...
Assessment of the characteristics of spontaneous movements and behaviour in early infancy helps in estimating developmental outcomes. We introduced the Infant Behaviour Checklist (IBC) and examined the relationship between the behavioural characteristics of low-birth-weight infants and neurodevelopmental outcomes at 6 years of age. The behavioural characteristics during the neonatal (36–43 weeks, adjusted) and early infancy periods (49–60 weeks, adjusted) were assessed in very-low-birth-weight infants. The IBC includes 44 common behaviours. We assessed the appearance of individual behavioural characteristics at each period according to the neurodevelopmental outcome. Of the 143 infants assessed during the neonatal period, 89 had typical development (TD), 30 had intellectual disability (ID), and 24 had autism spectrum disorder (ASD). In 78 infants assessed during early infancy, 40, 21, and 17 had TD, ID, and ASD, respectively. The frequency of appearance of three behaviour-related items was significantly lower in the ID group than in the TD group. The frequency of appearance of three posture- and behaviour-related items was significantly lower, while that of two posture-related items was significantly higher, in the ASD group than in the TD group. Behavioural assessment using the IBC may provide promising clues when considering early intervention for low-birth-weight infants.
... Haveria, nesses sujeitos, uma falha no desenvolvimento dos sistemas que programam o timing, a coordenação motora seriada, o controle prospectivo de movimentos e o controle da regulação afetiva das experiências ainda no período prénatal 4 . Por esse motivo, haveria ainda no primeiro ano de vida das crianças autistas a evidência de algumas consequências negativas, para além dos comportamentos intersubjetivos, relacionados a atividades básicas da vida diária, tais como sentar, engatinhar, arrastar-se e andar 6,7 . ...
... Tais resultados confirmam a afirmação de que o nascimento prematuro pode representar fator de risco psíquico ao bebê e de crise psicológica na família 9 , bem como no desenvolvimento de habilidades sensoriomotoras 4,6,7,10 . Ressalta-se que tais fatores podem contribuir para a evolução autista do bebê 1,5 . ...
Objetivo: Analisar a associação entre presença de risco psíquico, a partir do questionário PREAUT, e fatores obstétricos, sociodemográficos e psicossociais, em bebês nascidos a termo e pré-termo entre um e nove meses de idade. Método: A amostra foi de 80 bebês, 25 nascidos pré-termo e 55 a termo avaliados a partir de entrevista semi-estruturada e aplicação do questionário PREAUT. Resultados: Houve associação entre presença de risco psíquico e o fato de a mãe cuidar sozinha do bebê, não apresentar uma atividade profissional, o bebê ser do sexo masculino, apresentar dificuldades alimentares como refluxo e engasgos, bem como não explorar o próprio corpo e o ambiente a sua volta. Conclusão: Houve associação entre presença de risco psíquico, a partir do questionário PREAUT e fatores obstétricos, sociodemográficos e psicossociais.
... Embora haja alta comorbidade de TEA com deficiência intelectual, há pacientes com funcionamento cognitivo acima da média, não sendo a inteligência um critério diagnóstico para o transtorno (APA, 2014). Os atrasos e prejuízos na motricidade também não são uma característica central do diagnóstico, embora estejam presentes em muitas das crianças com TEA (Esposito, Venuti, Maestro, & Muratori, 2009). Dentre os principais prejuízos motores no TEA estão a marcha desajeitada, postura estranha e dificuldades no equilíbrio (Wilson, McCracken, Rinehart, & Jeste, 2018). ...
... Os domínios Cognitivo e Motricidade (Fina e Ampla) também apresentaram diferenças significativas entre crianças com e sem TEA na amostra deste estudo. O achado de que a sensibilidade e a especificidade são um pouco menores para estes domínios pode refletir o fato de prejuízos na cognição e motricidade não serem características centrais do diagnóstico, embora estejam associadas a ele (APA, 2014;Esposito et al., 2009). Assim como encontrado na literatura, há uma considerável comorbidade entre TEA e deficiência intelectual cerca de 60 a 70% dos casos (Marques, & Bosa, 2015). ...
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by significant deficits in socio-communicative skills and by the presence of restricted interests and repetitive and stereotyped behaviors. According to the DSM-5 criteria, the first symptoms can be observed before 36 months of age. Assessing child development milestones allows for a detailed and early observation of subtle behaviors and skills that may be impaired from the earliest months of life. The Inventário Dimensional de Avaliação do Desenvolvimento Infantil (IDADI) is an instrument for multidimensional assessment of children's development based on parental reporting and based on seven theoretical domains of abilities: Cognitive, Receptive and Expressive Communication and Language, Gross and Fine Motor Skills, Social-emotional e Adaptive Behavior. This study aims to investigate criterion validity evidences and sensitivity and specificity from IDADI comparing groups with and without ASD. Thirty-one mothers of children with ASD (26 boys, 83.9%) and 54 mothers of children without any kind of diagnosis (45 boys, 83.3%) took part in this study. Data related to age, child sex, mother’s schooling, and family income have been paired between the two groups. In multivariate analysis of variance, the diagnosis presented a large effect size in the domains of Communication and Expressive Language (d =2,7), Receptive Language (d = 2,6), Adaptive Behavior (d =2,5), Social-emotional (d =2,2), Fine Motor Skills (d =1,7), Cognitive (d =1,6) and Gross Motor Skills (d = 1,5). Sensitivity and specificity indexes support the use of IDADI in the identification of children with suspected ASD in the relevant domains to the diagnosis. The preliminary validity evidences found in this study support the use of IDADI as an instrument for developmental assessment of children with ASD.
... Both qualitative and quantitative motor atypicalities may occur in autistic individuals. Early motor markers of ASD include postural asymmetries [17] and poor postural control [18]. Teitelbaum and colleagues [19] retrospectively analyzed videos of infants aged 4-6 months who were later diagnosed with ASD and found difficulties with lying, righting, sitting, crawling, and walking. ...
Early identification of Neurodevelopmental Disorders (NDD) allows for faster intervention, which in turn improves clinical outcomes and reduces the individual and societal costs associated with the diagnosis. The aims of the study were to 1) investigate the use of the DeepLabCut (DLC) toolbox to automatically analyze the motor patterns of infants at Low Risk (LR) and High Risk (HR) for Autism Spectrum Disorder (ASD); and 2) define the critical time window in which atypical motor patterns discriminate between typically developing infants and those diagnosed with ASD or NDD. The DLC toolbox was used to train a model capable of tracking the movements of both LR and HR infants longitudinally at the ages of 10 days, 6 weeks, 12 weeks, 18 weeks, and 24 weeks. 226 videos of 87 infants (45 females), collected within the Italian Network for Early Detection of Autism Spectrum Disorder (NIDA), were analyzed. Using the Percentage of Correct Key-points (PCKh) accuracy metric, the DLC’s tracking performance was verified by comparing the obtained 2D hands and feet coordinates with those extracted by the Movidea software. Furthermore, motor features were computed and fed to three classifiers: Fine Tree, RUSBoosted Trees, and Narrow Neural Network to investigate their usefulness in terms of early NDD prediction. Satisfactory PCKh results were obtained for both hands and feet (left foot: 96.6%, right foot: 96.2 %, left hand: 80.9%, right hand: 82.8%). The best classification results were obtained with the RUSBoosted classifier at the ages of 10 days and 6 weeks. The 5-fold cross-validation accuracy was 81.4%, with a true negative rate of 80.0% and true positive rate 87.5%. Our data confirm the usefulness of DLC as a low-cost approach to track infant movements during the writhing period. Early motor behavior at the ages of 10 days and 6 weeks carries valuable information that has the potential to be suitable in predicting the diagnosis of NDD.
... A detailed classification of postural patterns should consider their cause in the abnormalities of distribution and magnitude of muscle tension, the normalization of which is the foundation of treatment [20]. The described abnormalities may result from musculoskeletal [21] or sensory processing issues [22] or have a neurological basis resulting from brain damage or neurodevelopmental disorders [23][24][25]. Therefore, developing computer-assisted methods will help identify the disorder earlier, enabling further diagnosis and early intervention. ...
Background
Positional preferences, asymmetry of body position and movements potentially indicate abnormal clinical conditions in infants. However, a lack of standardized nomenclature hinders accurate assessment and documentation of these preferences over time. Video tools offer a safe and reproducible method to analyze and describe infant movement patterns, aiding in physiotherapy management and goal planning. The study aimed to develop an objective classification system for infant movement patterns with particular emphasis on the specific distribution of muscle tension, using methods of computer analysis of video recordings to enhance accuracy and reproducibility in assessments.
Methods
The study involved the recording of videos of 51 infants between 6 and 15 weeks of age, born at term, with an Apgar score of at least 8 points. Based on observations of a recording of infant spontaneous movements in the supine position, experts identified postural-motor patterns: symmetry and typical asymmetry linked to the asymmetrical tonic neck reflex. Deviations from the typical postural-motor system were indicated, and subcategories of atypical patterns were distinguished. A computer-based inference system was developed to automatically classify individual patterns.
Results
The following division of motor patterns was used: (1) normal patterns, including (a) typical (symmetrical, asymmetrical: variants 1 and 2); and (b) atypical (variants: 1 to 4), (2) positional preference, and (3) abnormal patterns. The proposed automatic classification method achieved an expert decision mapping accuracy of 84%. For atypical patterns, the high reproducibility of the system’s results was confirmed. Lower reproducibility, not exceeding 70%, was achieved with typical patterns.
Conclusions
Based on the observation of infant spontaneous movements, it is possible to identify movement patterns divided into typical and atypical patterns. Computer-based analysis of infant movement patterns makes it possible to objectify and satisfactorily reproduce diagnostic decisions.
... Although motor impairment is not part of ASD diagnosis criteria, recent studies reported deficiencies in gross motor functions in children with ASD [6,7] including deficiencies in balance, gait, planning, reaching, and fine motor skills. Delays and differences in typical development are described in children with ASD starting at 20 weeks of age [8] and throughout the first year of life [9]. Several studies showed that gross motor performance is delayed and presents abnormal characteristics when compared to typical development [10] and therefore should be part of the criteria supporting ASD diagnosis [11]. ...
Abstract
Purpose: This study assessed whether Motor Developmental Delay
(MDD) can be regarded as an indicator of ASD.
Methods: Retrospective cohort study. The study's population included
240,299 children from Israel, born between 2011 and 2017. MDD
definition was based on at least one recorded developmental physiotherapy
visit before age two years. Association of MDD, demographic and health
characteristics and later diagnosis of ASD were evaluated.
Results: MDD was significantly more frequent in children subsequently
diagnosed with ASD. Additional characteristics associated with ASD were
male gender and a sibling with ASD. The average age of ASD diagnosis
in children with MDD was 7 months younger than those without MDD.
Conclusions: An in-depth examination of communication skills within
the MDD population is recommended, especially when associated with
male babies, siblings with ASD, premature birth, and low birth weight.
Appropriate training of developmental physiotherapists should aim to
identify suspicious early indications of ASD.
... Autism spectrum disorder is manifested by differences in social communication along with idiosyncratic behaviors, the presence of restricted and repetitive behaviors [3], and difficulties in motor planning and coordination [13][14][15]33]. Signs of autism typically emerge between 9-18 months, including reduced attention to people, lack of response to name, differences in affective engagement and expressions, and motor delays [2,11,23,32]. ...
... A number of studies have revealed an atypical pattern of motoric control in ASD children. These atypicalities include lateral asymmetry in posture and movement 28,29 , hypotonia 19 , and spastic limb movement 24 . In prospective studies, Landa and her colleagues 30,31 reported that children with ASD show atypical motor control in both gross and fine movements before 24 months old. ...
Infants make spontaneous movements from the prenatal period. Several studies indicate that an atypical pattern of body motion during infancy could be utilized as an early biomarker of autism spectrum disorders (ASD). However, to date, little is known about whether the body motion pattern in neonates is associated with ASD risk. The present study sought to clarify this point by examining, in a longitudinal design, the link between features of spontaneous movement at about two days after birth and ASD risk evaluated using the Modified Checklist for Autism in Toddlers by their caregivers at 18 months old. The body movement features were quantified by a recently developed markerless system of infant body motion analysis. Logistic regression analysis revealed that ASD risk at 18 months old is associated with the pattern of spontaneous movement at the neonatal stage. Further, logistic regression based on body movement features during sleep shows better performance in classifying high- and low-risk infants than during the awake state. These findings raise the possibility that early signs of ASD risk may emerge at a developmental stage far earlier than previously thought.
... In fact, a retrospective study of motor behavior in infants using video analysis found that the infant with ASD had significantly less static and dynamic symmetry in the supine position at 12-21 weeks [14]. Another study suggested asymmetrical movement patterns, such as Righting from Supine to Prone, sitting, crawling, walking [15] and delayed age of motor acquisition, e.g., sitting without support, standing without support [16], first walking [17] and walking alone [16]. ...
There is a lot of evidence that early developmental therapy achieves impressive therapeutic results for those who require it. Therefore, developmental follow-up, which includes the process of monitoring the child’s development over time, makes it possible to identify possible developmental problems and treat them from a young age. This assumption is true in relation to all children with developmental difficulties but is mainly true in the context of children with a diagnosis of autism. However, despite the abundance of developmental scales for the neurotypical population, there are currently no valid scales for assessing motor function for children with autism. The current article focuses on the presentation of the motor delay, identified according to the literature, in many of the children with autism and requires the provision of professional and compatible treatment for these children. This motor delay and the lack of a motor assessment tool for children with autism raises the need for an adapted motor developmental assessment tool, which will produce measurable results, to enable the monitoring of the aforementioned disability and the receiving of tailored treatment from the physiotherapists who deal with the development of children with autism at an early age. The article reviews common existing assessment tools for use in assessing normal development in children with autism, presents the limitations and the challenges that arise when using these assessment tools with children on the autism spectrum and presents the need for a new developmental assessment tool that will be built and validated specifically for children with autism.
... The prevalence estimates of motor impairments in autism range from 50-85%; 14,[16][17][18][19] these estimates could potentially represent lower bounds since they are limited by the sensitivity of current assessment methods 15 . Motor impairments often are one of the earliest reported signs associated with autism [20][21][22] , and have been documented in autistic children without cognitive impairment 19 . Thus, early assessment of motor skills could be a useful component of an early screening battery for autism. ...
Increasing evidence suggests that early motor impairments are a common feature of autism. Thus, scalable, quantitative methods for measuring motor behavior in young autistic children are needed. This work presents an engaging and scalable assessment of visual-motor abilities based on a bubble-popping game administered on a tablet. Participants are 233 children ranging from 1.5 to 10 years of age (147 neurotypical children and 86 children diagnosed with autism spectrum disorder [autistic], of which 32 are also diagnosed with co-occurring attention-deficit/hyperactivity disorder [autistic+ADHD]). Computer vision analyses are used to extract several game-based touch features, which are compared across autistic, autistic+ADHD, and neurotypical participants. Results show that younger (1.5-3 years) autistic children pop the bubbles at a lower rate, and their ability to touch the bubble’s center is less accurate compared to neurotypical children. When they pop a bubble, their finger lingers for a longer period, and they show more variability in their performance. In older children (3-10-years), consistent with previous research, the presence of co-occurring ADHD is associated with greater motor impairment, reflected in lower accuracy and more variable performance. Several motor features are correlated with standardized assessments of fine motor and cognitive abilities, as evaluated by an independent clinical assessment. These results highlight the potential of touch-based games as an efficient and scalable approach for assessing children’s visual-motor skills, which can be part of a broader screening tool for identifying early signs associated with autism.
... The Diagnostic and Statistical Manuel 5th Edition (DSM-5) (American Psychiatric Association, 2013a) describes autistic spectrum disorders (ASDs) as involving impaired social interactions, repetitive behaviors, and problems with communication. Additional features can include poor eye contact (Esposito and Venuti, 2008), sensory modulatory dysfunction (Baranek et al., 2005), motor dysfunction (Ozonoff et al., 2008), and cognitive developmental problems (Esposito et al., 2009;Edwards et al., 2012). ...
Background
There is much overlap among the symptomology of autistic spectrum disorders (ASDs), obsessive compulsive disorders (OCDs), and alexithymia, which all typically involve impaired social interactions, repetitive impulsive behaviors, problems with communication, and mental health.
Aim
This study aimed to identify direct and indirect associations among alexithymia, OCD, cardiac interoception, psychological inflexibility, and self-as-context, with the DV ASD and depression, while controlling for vagal related aging.
Methodology
The data involved electrocardiogram (ECG) heart rate variability (HRV) and questionnaire data. In total, 1,089 participant's data of ECG recordings of healthy resting state HRV were recorded and grouped into age categories. In addition to this, another 224 participants completed an online survey that included the following questionnaires: Yale-Brown Obsessive Compulsive Scale (Y-BOCS); Toronto Alexithymia Scale 20 (TAS-20); Acceptance and Action Questionnaire (AAQII); Depression, Anxiety, and Stress Scale 21 (DAS21); Multi-dimensional Assessment of Interoceptive Awareness Scale (MAIA); and the Self-as-Context Scale (SAC).
Results
Heart rate variability was shown to decrease with age when controlling for BMI and gender. In the two SEMs produced, it was found that OCD and alexithymia were causally associated with autism and depression indirectly through psychological inflexibility, SAC, and ISen interoception.
Conclusion
The results are discussed in relation to the limitations of the DSM with its categorical focus of protocols for syndromes and provide support for more flexible ideographic approaches in diagnosing and treating mental health and autism within the Extended Evolutionary Meta-Model (EEMM). Graph theory approaches are discussed in their capacity to depict the processes of change potentially even at the level of the relational frame.
... e neuroimaging data usually used for the auxiliary diagnosis of ASD often have hundreds or thousands of features, and the number of training samples is very limited, which may easily lead to overfitting problems during classifier training. Moreover, the samples used to construct the ASD classifier have the problem of class imbalance, which causes the classification prediction results to be biased towards the majority class [16,17]. ...
Autism Spectrum Disorder (ASD) is a complicated collection of neurodevelopmental illnesses characterized by a variety of developmental defects. It is a binary classification system that cannot cope with reality. Furthermore, ASD, data label noise, high dimension, and data distribution imbalance have all hampered the existing classification algorithms. As a result, a new ASD was proposed. This strategy employs label distribution learning (LDL) to deal with label noise and uses support vector regression (SVR) to deal with sample imbalance. The experimental results show that the proposed method balances the effects of majority and minority classes on outcomes. It can effectively deal with imbalanced data in ASD diagnosis, and it can help with ASD diagnosis. This study presents a cost-sensitive approach to correct sample imbalance and uses a support vector regression (SVR)-based method to remove label noise. The label distribution learning approach overcomes high-dimensional feature classification issues by mapping samples to the feature space and then diagnosing multiclass ASD. This technique outperforms previous methods in terms of classification performance and accuracy, as well as resolving the issue of unbalanced data in ASD diagnosis.
... Persistent asymmetrical body behavior in early life provides a prominent prodromal risk marker of neurodevelopmental conditions like autism spectrum disorder (ASD), which affects about 2% of children [17,16,4,3]. It is also symptomatic of congenital muscular torticollis (CMT), a 1 Dataset and model code available at https://github.com/ostadabbas/Infant-Postural-Symmetry. ...
Bilateral postural symmetry plays a key role as a potential risk marker for autism spectrum disorder (ASD) and as a symptom of congenital muscular torticollis (CMT) in infants, but current methods of assessing symmetry require laborious clinical expert assessments. In this paper, we develop a computer vision based infant symmetry assessment system, leveraging 3D human pose estimation for infants. Evaluation and calibration of our system against ground truth assessments is complicated by our findings from a survey of human ratings of angle and symmetry, that such ratings exhibit low inter-rater reliability. To rectify this, we develop a Bayesian estimator of the ground truth derived from a probabilistic graphical model of fallible human raters. We show that the 3D infant pose estimation model can achieve 68% area under the receiver operating characteristic curve performance in predicting the Bayesian aggregate labels, compared to only 61% from a 2D infant pose estimation model and 60% from a 3D adult pose estimation model, highlighting the importance of 3D poses and infant domain knowledge in assessing infant body symmetry. Our survey analysis also suggests that human ratings are susceptible to higher levels of bias and inconsistency, and hence our final 3D pose-based symmetry assessment system is calibrated but not directly supervised by Bayesian aggregate human ratings, yielding higher levels of consistency and lower levels of inter-limb assessment bias.
... Motoric anomalies in autism (distinct from LD and TD) have been detected at between 3 and 5 months (Esposito et al., 2009) and by approximately 1 year for gait differences (Esposito and Venuti, 2008;Esposito et al., 2011). Subsequent proofof-concept longitudinal research using wearable sensors has identified reduced motor complexity from as young as 3 months of age and at each 3-monthly time point studied, in two of five genetically high-risk infants later assessed (Wilson et al., 2021). ...
We propose Rhythmic Relating for autism: a system of supports for friends, therapists, parents, and educators; a system which aims to augment bidirectional communication and complement existing therapeutic approaches. We begin by summarizing the developmental significance of social timing and the social-motor-synchrony challenges observed in early autism. Meta-analyses conclude the early primacy of such challenges, yet cite the lack of focused therapies. We identify core relational parameters in support of social-motor-synchrony and systematize these using the communicative musicality constructs: pulse; quality; and narrative. Rhythmic Relating aims to augment the clarity, contiguity, and pulse-beat of spontaneous behavior by recruiting rhythmic supports (cues, accents, turbulence) and relatable vitality; facilitating the predictive flow and just-ahead-in-time planning needed for good-enough social timing. From here, we describe possibilities for playful therapeutic interaction, small-step co-regulation, and layered sensorimotor integration. Lastly, we include several clinical case examples demonstrating the use of Rhythmic Relating within four different therapeutic approaches (Dance Movement Therapy, Improvisational Music Therapy, Play Therapy, and Musical Interaction Therapy). These clinical case examples are introduced here and several more are included in the Supplementary Material (Examples of Rhythmic Relating in Practice). A suite of pilot intervention studies is proposed to assess the efficacy of combining Rhythmic Relating with different therapeutic approaches in playful work with individuals with autism. Further experimental hypotheses are outlined, designed to clarify the significance of certain key features of the Rhythmic Relating approach.
... However, independently of their clinical origin, motor dysfunctions might represent a first sign of atypical development in BBSOAS. In fact, early-onset motor impairments often emerge before social and communicative deficits [181,[192][193][194]. ...
The formation and maturation of the human brain is regulated by highly coordinated developmental events, such as neural cell proliferation, migration and differentiation. Any impairment of these interconnected multi-factorial processes can affect brain structure and function and lead to distinctive neurodevelopmental disorders. Here, we review the pathophysiology of the Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777), a recently described monogenic neurodevelopmental syndrome caused by the haploinsufficiency of NR2F1 gene, a key transcriptional regulator of brain development. Although intellectual disability, developmental delay and visual impairment are arguably the most common symptoms affecting BBSOAS patients, multiple additional features are often reported, including epilepsy, autistic traits and hypotonia. The presence of specific symptoms and their variable level of severity might depend on still poorly characterized genotype–phenotype correlations. We begin with an overview of the several mutations of NR2F1 identified to date, then further focuses on the main pathological features of BBSOAS patients, providing evidence—whenever possible—for the existing genotype–phenotype correlations. On the clinical side, we lay out an up-to-date list of clinical examinations and therapeutic interventions recommended for children with BBSOAS. On the experimental side, we describe state-of-the-art in vivo and in vitro studies aiming at deciphering the role of mouse Nr2f1, in physiological conditions and in pathological contexts, underlying the BBSOAS features. Furthermore, by modeling distinct NR2F1 genetic alterations in terms of dimer formation and nuclear receptor binding efficiencies, we attempt to estimate the total amounts of functional NR2F1 acting in developing brain cells in normal and pathological conditions. Finally, using the NR2F1 gene and BBSOAS as a paradigm of monogenic rare neurodevelopmental disorder, we aim to set the path for future explorations of causative links between impaired brain development and the appearance of symptoms in human neurological syndromes.
... At 2 years, unusual postures, hypoactivity, and hypotonia; lower gross and/or fine motor skills; increased repetitive behaviors. This study highlights the heterogeneity of motor signs in these children, which at least partly depends on the age factor [32]. Body symmetry in infants can be involved, as pointed out by Esposito et al., who found that ASD infants may exhibit significantly reduced static and dynamic symmetry while lying in the first 5 months [33] or during unsupported gait when toddlers [34]. Sparaci et al. (2018) studied longitudinally 41 HR infants at 10, 12, 18 and 24 months of life. ...
A growing number of literature data suggest the presence of early impairments in the motor development of children with autism spectrum disorder, which could be often recognized even before the appearance of the classical social communication deficits of autism. In this narrative review, we aimed at performing an update about the available data on the early motor function in children with autism spectrum disorder. Early motor impairment in these children can manifest itself both as a mere delay of motor development and as the presence of atypicalities of motor function, such as a higher rate and a larger inventory, of stereotyped movements both with and without objects. In the perspective of a timely diagnosis, the presence of early motor signs can be an important clue, especially in an individual considered at high risk for autism. Motor and communication (both verbal and non-verbal) skills are connected and a pathogenetic role of early motor dysfunctions in the development of autism can be hypothesized. From this, derives the importance of an early enabling intervention aimed at improving motor skills, which could also have favorable effects on other aspects of development.
... 1,2 From a clinical perspective, motor impairment in these children can manifest itself very early, with a delay, mostly slight, in the achievement of motor development milestones, [3][4][5] with hypotonia, 6 walking on tiptoes, and/or with a sort of clumsiness in movements. 7 The other early motor symptoms highlighted by research studies (such as a reduced symmetry when lying or during unsupported gait, increased bilateral repetitive limb movements, or a more monotonous spontaneous motor activity) [8][9][10][11] are undoubtedly much harder to identify in the clinical practice, but their presence, suggested by several studies, confirms the existence of an early motor dysfunction in children with ASD. To give an idea of the prevalence of motor impairment in ASD, we can mention the work of Ming et al., 12 who studied 154 children (median age: 6 years), finding hypotonia in 51% of cases, apraxia in 34%, walking on tiptoes in 19%, and gross motor delay in 9%. ...
... Among these six gross motor skills, H&K crawling has been used by most children as an intermediate way of moving before starting to walk, and the timing of its acquisition has been integrated into various standardized developmental assessment scales (Bayle, 1993;Zdanska-Bricken & Wolanski, 1969). Although this locomotor skill is typically present in infants, it is well documented that some infants skip this stage with no negative consequences (Esposito et al., 2009). Most infants start H&K crawling when they begin to sit, the median age for which is approximately 8.3 months (WHO Multicentre Growth Reference Study Group & De Onis, 2006). ...
Our aim in this study was to affirm or negate (quantitatively) our subjective impression of altered hands and knees crawling (H&K crawling) among children with Autism Spectrum Disorder (ASD). Through parental questionnaires and children’s health records, we retrospectively compared early motor skills, including the frequency of H&K crawling in 79 children with Autistic Disorder or Asperger Syndrome versus 100 children with typical development (TD). We found H&K crawling to be significantly less frequent among children with ASD (44.2%) versus children with TD (69%). Children with ASD also showed a decreased frequency of acquiring a seating position without help and a later mean walking age compared to the TD children. These data suggest that early motor development delays may be a useful sign for detecting ASD at early ages.
... Individuals with ASD show impairments in motor performance from an early age [6,[27][28][29][30]. Additionally, high-risk infants who then develop ASD usually have deficits in motor skills at age six months [31]. ...
Autism spectrum disorder (ASD) is characterized by deficits in interactional synchrony and motor performance, but little is known about the association between them. The current study investigated the association among aberrant interactional synchrony (as measured by interactors’ symmetry in the form of the hand at each time-point along movement’s execution), motor functioning and the level of Autistic traits. In this study, autistic traits were evaluated by the Autistic Spectrum Quotient (AQ). Two tasks were used: (1) an interactional synchrony task where participants and the research assistant were instructed to move their hands together; and (2) a motor planning task which allows for continuous monitoring of natural hand movements. Pearson correlation analysis indicated a significant association between lower communication skills (i.e., higher AQ communication scores) and lower intentional synchrony rates. In addition, lower communication skills were found associated with typical patterns of motor planning and execution characterized by shorter time to start the movement and higher value of max speed. Mediator analyses supported the notion that aberrant intentional synchrony in individuals with low communication skills is partially mediated through typical patterns of motor planning and execution. These results suggest typical patterns of motor functions may account for intentional synchrony difficulties.
... The understanding of behavioral patterns and their flow led to the study of rhythm, reciprocity [1] and synchrony [18,19]. These aspects have mainly been investigated in the context of infant-caregiver interactions [20] with typical development, but also with respect to autism spectrum disorder (ASD) [21][22][23][24][25][26][27]; atypical neurodevelopment [28], and in at-risk clinical samples [29][30][31]. ASD refers to a set of neurodevelopmental conditions that present alteration in socio-communicative and socio-emotional domains, together with the presence of a repetitive and restrictive pattern of behaviors and interests [2]. ...
Background: Observational research plays an important part in developmental research due to its noninvasiveness. However, it has been hardly applied to investigate efficacy of the child–therapist interaction in the context of naturalistic developmental behavioral interventions (NDBI). In particular, the characteristics of child–therapist interplay are thought to have a significant impact in NDBIs in children with autism spectrum disorder (ASD). Quantitative approaches may help to identify the key features of interaction during therapy and could be translated as instruments to monitor early interventions. Methods: n = 24 children with autism spectrum disorder (ASD) were monitored from the time of the diagnosis (T0) and after about one year of early intervention (T1). A novel observational coding system was applied to video recorded sessions of intervention to extract quantitative behavioral descriptors. We explored the coding scheme reliability together with its convergent and predictive validity. Further, we applied computational techniques to investigate changes and associations between interaction profiles and developmental outcomes. Results: Significant changes in interaction variables emerged with time, suggesting that a favorable outcome is associated with interactions characterized by increased synchrony, better therapist’s strategies to successfully engage the child and scaffold longer, more complex and engaging interchanges. Interestingly, data models linked interaction profiles, outcome measures and response trajectories. Conclusion: Current research stresses the need for process measures to understand the hows and the whys of ASD early intervention. Combining observational techniques with computational approaches may help in explaining interindividual variability. Further, it could disclose successful features of interaction associated with better response trajectories or to different ASD behavioral phenotypes that could require specific dyadic modalities.
... Minor inconsistent asymmetry involving asynchronous movements of limbs in infants is part of normal development. Consistent asymmetry should prompt a more extensive evaluation because movements should be synchronous until about age two with the development of the dominant hand (4,12). ...
Background: Presenting symptoms and age specific differential diagnosis of Autism Spectrum Disorder (ASD), determine the age of initial assessment and the age of a definite diagnosis. The AAP recommends screening all children for ASD at 18 and 24 months followed by a comprehensive evaluation for children with developmental concerns. More recently it has been recommended that the evaluation should be performed at a younger age, with a diagnosis being made as early as the beginning of the second year of life resulting in earlier intensive intervention.
Objective: To assess early developmental milestones in a cohort of children diagnosed with Autism Spectrum Disorder (ASD) in order to find an objective and reliable early marker. We suggest that low muscle tone- hypotonia, is a sign that meets the above criteria of consistency and reliability and may be related to early diagnosis.
Methods: We compared age distributions of ASD diagnosis in the presence of hypotonia in a dataset of 5,205 children diagnosed at Keshet Center. One thousand, one hundred eighty-two children (953 males) were diagnosed with ASD and compared to other developmental diagnoses. Within the ASD cohort we further analyzed for gender and pre-maturity differences.
Results: In the presence of hypotonia, the mean age for ASD diagnosis was significantly lower (by 1.5 years for males and females) and this effect increased in children born at term as compared to pre-maturity.
Conclusions: Hypotonia is a recognizable marker of ASD and may serve as a “red flag” to prompt earlier recognition and neurodevelopmental evaluation toward an autism diagnosis.
... The high percentage found in those studies represents a different era of ASD incidence and genetic evaluation, as such syndromes with overt motor difficulties-such as Rett Syndrome or Fragile X-may have been included and influenced the high incidence. Newer studies point to more subtle motor differences, but still emphasize it in the context of ASD: in one study, a retrospective examination of home videotapes of infants later diagnosed with ASD yielded clear differences in the early development of motor skills in comparison to a group of typically developing infants (Esposito, Venuti, Maestro, & Muratori, 2009). The primary finding of the latter study was that infants who would later be diagnosed with ASD exhibited an early asymmetry in their motor development . ...
Background
Autism and intellectual disability may coincide and be preceded by global developmental delay or by motor delay.
Hypothesis
Motor delay in the context of global developmental delay is an initial "red flag” for ASD, with added risk in girls.
Objective
To assess early developmental milestones in girls with ASD as compared to diagnosed boys, considering prematurity risk.
Method
Developmental milestones in a cohort of 467 children with ASD - diagnosed at mean age of 3.4 years (SD = 2.2) - were analyzed according to gender and prematurity risk.
Results
111 girls (24 %), 356 boys (76 %), presented with motor milestones acquisition grossly within the normal range. However, there was a shift towards acquisition of walking being at the later end of the norm range, with this shift being more prominent in girls. 60 % of girls and 47 % of boys with ASD had motor delay and 49 % of girls and 36 % of boys had global developmental delay. The extent of the delays was greater in the prematurity subgroup.
Conclusion
Global delay of early milestones occurred in half of children with ASD and in 60 % of girls with ASD. Delayed acquisition of independent walking is relatively more common in girls subsequently diagnosed with ASD.
... Vol. 22 No.5 May 2020 · 495 · 据美国疾控中心报道，美国的孤独症谱系障 碍(autism spectrum disorder, ASD) 患 病 率 已 达 1/59 [1] 。国内尚无大规模全国性流行病学调查数据， 2013 年 Sun 等 [2] Meta 分 析 提 示， 中 国 大 陆 儿 童 ASD 的患病率为 11.8/10 000，研究报道的最高患 病率也达到了 1/133 [3] 。ASD 已成为儿童保健或发 育行为门诊中的常见疾病。ASD 患儿早期与单纯 全 面 发 育 迟 缓(global developmental delay, GDD) 患儿在临床症状上较难鉴别，ASD 儿童在语言 [4] 、 运动 [5][6][7] 、社交 [8] ...
Objective:
To compare the assessment results of the Children Neuropsychological and Behavioral Scale-Revision 2016 (CNBS-R2016) between young children with autism spectrum disorder (ASD) and global developmental delay (GDD, without ASD) and to explore whether CNBS-R2016 could be helpful to early identification of ASD.
Methods:
A total of 260 ASD and 371 GDD children aged 18-30 months were enrolled to finish the assessment of CNBS-R2016. The development quotients (DQs) of the five domains of CNBS-R2016 including gross motor, fine motor, adaptability, language and social behavior were compared between the two groups. The receiver operating characteristic (ROC) curve was used to evaluate the value of the autism-predicted domain in identifying ASD and GDD.
Results:
The DQs of all the five domains in the ASD group were lower than those in the GDD group (P<0.05). The language DQ and total DQ of the ASD group had a negative correlation with the score of the autism-predicted domain (rs=-0.566, -0.552 respectively, P<0.01). When the cut-off value of the autism-predicted domain was 10.5, the largest area under the ROC curve was 0.835, and the sensitivity and specificity for the diagnosis of ASD were 0.750 and 0.798 respectively.
Conclusions:
The development of ASD children aged 18-30 months is worse than that of GDD children. CNBS-R2016 may be helpful to distinguish ASD from children with developmental delay.
... Using retrospective analysis of video, researchers revealed leftright postural asymmetry during walking among infants at 20.2 AE 2.1 months old [Esposito & Venuti, 2008] and at 14.0 AE 1.4 months old who were later diagnosed as ASD [Esposito et al., 2011]. This gait asymmetry echoes with asymmetrical lying, sitting, and crawling among infants with ASD who were later diagnosed as ASD [Esposito, Venuti, Maestro, & Muratori, 2009]. The asymmetry in motor behaviors might be related to the abnormal lateralization in multiple brain networks among individuals with ASD [Cardinale, Shih, Fishman, Ford, & Muller, 2013]. ...
Ground walking in humans is typically stable, symmetrical, characterized by smooth heel‐to‐toe ground contact. Previous studies on children with autism spectrum disorder (ASD) identified various gait abnormalities. However, they produced inconsistent findings, particularly for the occurrence of toe walking and gait symmetry between feet, owing to their reliance on retrospective reports, visual analysis of videos, or kinematic analysis of the gait. The present study examined gait functions in children with ASD using plantar pressure that quantified foot–ground interaction with high spatial and temporal resolutions. Fifty‐eight 4–6‐year‐old children with ASD (12 low‐functioning and 46 high‐functioning autism) and 28 age‐matched typically developed children walked straight 6 m at their preferred speed for 10 repetitions. We found that both ASD groups walked with more flat‐footed contact pattern, more left–right asymmetry, and larger step‐to‐step variability than their controls. Furthermore, these abnormal gait characteristics were related to social impairments measured by the Autism Spectrum Quotient and Social Responsive Scale, supporting a close association between impaired motor coordination and core symptoms of autism.
Lay Summary
We examined gait functions among children with autism by measuring their foot plantar pressure during simple straight walking. Children with ASD walked with a characteristic foot‐ground contact pattern with inappropriate contact forces and large step‐to‐step variability when compared with their age‐matched controls. These walking abnormalities were dependent on their social impairments but independent from their intelligence, indicating a close relationship between atypical motor coordination and core symptoms of autism.
... The authors of these previous studies inferred the possibility of a relationship between abnormal primitive reflexes or postural reactions and the limbic system and/or cerebellum. Research on postures of high-risk infants for ASD aged 3 to 6 months was indicated and two clusters of high and low level of symmetry were reported [15]. The previous authors hypothesized the cerebellum pathway may play an important role in the control of balance and symmetry. ...
Background: As early screening and diagnosis is very important in treatment of Autism Spectrum Disorder, we investigated the relationship between primitive reflexes and Autism Spectrum Disorder (ASD).
Methods: Of 88 very low birth weight infants born from April 2010 to March 2012, subjects comprised 38 examined for 18 primitive reflexes between age 38 and 45 wks corrected age and followed-up over 6 yrs. ASD was diagnosed using Diagnostic and Statistical Manual of Mental Disorders fifth edition (DSM-5) and Autism Diagnostic Observation Schedule Second Edition (ADOS-2). We compared the number of abnormal primitive reflexes between two groups (11 children with and 19 without ASD) after excluding eight children with cerebral palsy in this case-control study.
Results: The number of abnormal primitive reflexes differed significantly between groups, with hypoactive reflexes markedly higher in the ASD group (p=0.001). Conclusion: The result suggests primitive reflexes can be one of the key elements to identify ASD in low birth weight infants. Abnormal primitive reflexes of low birth weight infants with ASD in very early infancy may inform future research of the pathogenesis of ASD.
This study was designed to answer questions about why hemsball, an activity that allows children with autism to be easily involved and allows for individualized adaptations, can be an alternative activity for children with autism. The aim of this study is to examine the observations of parents and trainers for the evaluation of developments in children with autism with in the frame work of hemsball training. This study adopted a qualitative research model and was designed as a case study.The study group in the research consists of 8 parents and one trainer, who were selected by easily accessible case sampling method and participated in the research voluntarily. Semi-structured interviews were conducted with the parents and the trainer to achieve the aims of the research. In the first part of the form given to the parents, there is personal in formation and general information about the participation of their child with autism in hemsball training, and in the second form, there are interview forms consisting of 3 semi-structured questions for the parent and the trainer. After the interviews, the data were coded with the maticanalysis method. Content analysis technique was used in the analysis of the data obtained in the research. The changes that parents and hemsball trainer saw in children with autism after the hemsball training started were collected under 6 themes: motor, behavioral, academic, language and communication, sociological and psychological. And as a result, it was revealed that children with autism showed positive development in these six themes.
Purpose
To summarize and appraise the emerging evidence on early motor skills of infants later diagnosed with autism spectrum disorder (ASD), and the association of early motor delays to later ASD diagnosis/characteristics.
Methods
A literature search was conducted for studies published from 2000 to 2023 on the motor skills of infants later diagnosed with ASD, followed by screening and data extraction.
Results
Current evidence suggested presence of early motor deficits including poor anticipatory movements, postural control, and gross/fine motor skills during the first 2 years of ASD. However, there was variability among studies with regard to study sample and methodology.
Conclusion
Although motor deficits are evident in infants, it is unclear whether these are specific to ASD or a consequence of general developmental disorder. Future research is needed on the investigation of specificity and severity of early motor delays, which can potentially assist in early identification of ASD.
Motor impairments in children with ASD may appear early enough to serve as a marker for future inclusion in diagnostic groups. Disordered motor control may contribute to the difficulties in socialization and communication that are symptomatic of ASD. Motor delays and developmental dyspraxia can have a negative impact on activities of daily living, leisure activities, and social interactions. Several approaches and theories of motor learning and brain stimulation methods, such as transcranial direct current stimulation (tDCS) and behavioral training, are discussed in the chapter.
There is now good evidence that behavioural signs of autism spectrum conditions (autism) emerge over the first two years of life. Identifying clear developmental differences early in life may facilitate earlier identification and intervention that can promote longer-term quality of life. Here we present a systematic review of studies investigating behavioural markers of later autism diagnosis or symptomology taken at 0-6months. The following databases were searched for articles published between 01/01/2000 and 15/03/2022: Embase, Medline, Scopus, PubMed, PsycINFO, CINAHL, Web of Science and Proquest. Twenty-five studies met inclusion criteria: assessment of behaviour at 0-6months and later assessment of autism symptomology or diagnosis. Studies examined behaviours of attention, early social and communication behaviours, and motor behaviours, as well as composite measures. Findings indicated some evidence of measures of general attention, attention to social stimuli, and motor behaviours associated with later autism diagnosis or symptomology. Findings were inconsistent regarding social and communication behaviours, with a lack of repeated or validated measures limiting drawing firm conclusions. We discuss implications of the findings and suggest recommendations for future research.
Background:
Identifying mechanisms of change in Autism treatment may help explain response variability and maximize efficacy. For this, the child-therapist interaction could have a key role as stressed by developmental models of intervention, but still remains under-investigated.
Aims:
The longitudinal study of treatment response trajectories considering both baseline and child-therapist interaction features by means of predictive modeling.
Methods and procedures:
N = 25 preschool children were monitored for one year during Naturalistic Developmental Behavioral Intervention. N = 100 video-recorded sessions were annotated with an observational coding system at four time points, to extract quantitative interaction features.
Outcomes and results:
Baseline and interaction variables were combined to predict response trajectories at one year, and achieved the best predictive performance. The baseline developmental gap, therapist's efficacy in child engagement, respecting children's timing after fast behavioral synchronization, and modulating the interplay to prevent child withdrawal emerged as key factors. Further, changes in interaction patterns in the early phase of the intervention were predictive of the overall response to treatment.
Conclusions and implications:
Clinical implications are discussed, stressing the importance of promoting emotional self-regulation during intervention and the possible relevance of the first period of intervention for later response.
Early intervention is now considered the core treatment strategy for autism spectrum disorders (ASD). Thus, it is of significant clinical importance to establish a screening tool for the early detection of ASD in infants. To achieve this goal, in a longitudinal design, we analyzed spontaneous bodily movements of 4-month-old infants from general population and assessed their ASD-like behaviors at 18 months of age. A total of 26 movement features were calculated from video-recorded bodily movements of infants at 4 months of age. Their risk of ASD was assessed at 18 months of age with the Modified Checklist for Autism in Toddlerhood, a widely used screening questionnaire. Infants at high risk for ASD at 18 months of age exhibited less rhythmic and weaker bodily movement patterns at 4 months of age than low-risk infants. When the observed bodily movement patterns were submitted to a machine learning-based analysis, linear and non-linear classifiers successfully predicted ASD-like behavior at 18 months of age based on the bodily movement patterns at 4 months of age, at the level acceptable for practical use. This study analyzed the relationship between spontaneous bodily movements at 4 months of age and the ASD risk at 18 months of age. Experimental results suggested the utility of the proposed method for the early screening of infants at risk for ASD. We revealed that the signs of ASD risk could be detected as early as 4 months after birth, by focusing on the infant’s spontaneous bodily movements.
Gross motor ability is associated with profound differences in how children experience and interact with their social world. A rapidly growing literature on motor development in autism spectrum disorder (ASD) indicates that autistic individuals exhibit impairment in gross motor skills. However, due to substantial heterogeneity across studies, it remains unclear which gross motor skills are impaired in ASD, when and for whom these differences emerge, and whether motor and social impairments are related. The present article addressed these questions by synthesizing research on gross motor skills in ASD in two separate meta-analyses. The first examined gross motor deficits in ASD compared to neurotypical (NT) controls, aggregating data from 114 studies representing 6,423 autistic and 2,941 NT individuals. Results demonstrated a significant overall deficit in gross motor skills in ASD (Hedges' g = -1.04) that was robust to methodological and phenotypic variation and was significant at every level of the tested moderators. However, moderation analyses revealed that this deficit was most pronounced for object control skills (i.e., ball skills), clinical assessment measures, and movements of the upper extremities or the whole body. The second meta-analysis investigated whether gross motor and social skills are related in ASD, synthesizing data from 21 studies representing 654 autistic individuals. Findings revealed a modest but significant overall correlation between gross motor and social skills in ASD (r = 0.27). Collectively, results support the conclusion that motor deficits are tied to the core symptoms of ASD. Further research is needed to test the causality and directionality of this relationship. (PsycInfo Database Record (c) 2022 APA, all rights reserved).
Is it possible to detect autism during the first year of life.
The knowledge on early symptoms observed in autistic children has improved during the last decade. This is due particularly to studies of home videos and more recently to prospective studies on high-risk infants (siblings of children already diagnosed autistic). These researches have shown that the symptoms which characterize the autistic disorder first appear mainly during the second year of life. However, at least in some cases, subtle abnormalities have been reported since the first year. This paper reviews the data from these researches: they show that, as early as 12 months, some items (the rarity or defect of social smile, eye to eye contact and orientation to name) can predict a later diagnosis of autism or Autism Spectrum Disorder.
Introduction
Neurodevelopmental disorders (NDD), including cerebral palsy (CP), autism spectrum disorder (ASD) and foetal alcohol spectrum disorder (FASD), are characterised by impaired development of the early central nervous system, impacting cognitive and/or physical function. Early detection of NDD enables infants to be fast-tracked to early intervention services, optimising outcomes. Aboriginal and Torres Strait Islander infants may experience early life factors increasing their risk of neurodevelopmental vulnerability, which persist into later childhood, further compounding the health inequities experienced by First Nations peoples in Australia. The LEAP-CP prospective cohort study will investigate the efficacy of early screening programmes, implemented in Queensland, Australia to earlier identify Aboriginal and Torres Strait Islander infants who are ‘at risk’ of adverse neurodevelopmental outcomes (NDO) or NDD. Diagnostic accuracy and feasibility of early detection tools for identifying infants ‘at risk’ of a later diagnosis of adverse NDO or NDD will be determined.
Methods and analysis
Aboriginal and/or Torres Strait Islander infants born in Queensland, Australia (birth years 2020–2022) will be invited to participate. Infants aged < 9 months corrected age (CA) will undergo screening using the (1) General Movements Assessment (GMA); (2) Hammersmith Infant Neurological Examination (HINE); (3) Rapid Neurodevelopmental Assessment (RNDA) and (4) Ages and Stages Questionnaire-Aboriginal adaptation (ASQ-TRAK). Developmental outcomes at 12 months CA will be determined for: (1) neurological (HINE); (2) motor (Peabody Developmental Motor Scales 2); (3) cognitive and communication (Bayley Scales of Infant Development III); (4) functional capabilities (Paediatric Evaluation of Disability Inventory-Computer Adaptive Test) and (5) behaviour (Infant Toddler Social and Emotional Assessment). Infants will be classified as typically developing or ‘at risk’ of an adverse NDO and/or specific NDD based on symptomology using developmental and diagnostic outcomes for (1) CP (2) ASD and (3) FASD. The effects of perinatal, social and environmental factors, caregiver mental health and clinical neuroimaging on NDOs will be investigated.
Ethics and dissemination
Ethics approval has been granted by appropriate Queensland ethics committees; Far North Queensland Health Research Ethics Committee (HREC/2019/QCH/50533 (Sep ver 2)-1370), the Townsville HHS Human Research Ethics Committee (HREC/QTHS/56008), the University of Queensland Medical Research Ethics Committee (2020000185/HREC/2019/QCH/50533) and the Children’s Health Queensland HHS Human Research Ethics Committee (HREC/20/QCHQ/63906) with governance and support from local First Nations communities. Findings from this study will be disseminated via peer-reviewed publications and conference presentations.
Trial registration number
ACTRN12619000969167.
Background:
Autism Spectrum Disorder (ASD) is characterized by impairments in social interaction and reciprocal communication. ASD affects about 1% of the general population and is associated with substantial disability and economic loss. A variety of approaches to improve the core deficits and lives of people with ASD have been developed, including behavioral, developmental, educational, and medical interventions. The main objective of this study was to evaluate the efficacy of a neuro-psychomotor approach in children affected by ASD.
Methods:
The sample consisted of 84 children (66 males, mean age 56.9 ± 15.8 months) affected by ASD assessed between September 2020 to March 2021. The trained therapist was asked to complete the ASD behavior inventory (ASDBI) test at baseline (T0) (September 2020) and after six months (T1) (March 2021) to assess the child's evolution over the observational period. The study was carried out in southern Italy (Campania Region).
Results:
ASD children showed a significant improvement for AUTISM composite after 6 months of neuro-psychomotor treatment (T1) compared to baseline (65.4 ± 12.2 vs. 75.8 ± 11.5, p < 0.0001). In particular, significant changes were observed for such domains as the problems of excitability (ECCIT), aggression (AGG), behaviors in social relations (RELSOC), expressive (all p < 0.001), sense/perceptual contact modes (SENS) (p = 0.0007), ritualisms/resistance to changes (RIT) (p = 0.0002), pragmatic/social problems (PPSOC) (p = 0.0009), specific fears (FEARS) (p = 0.01), and learning and memory (AMLR) (p = 0.0007). No differences for the domains Semantic/pragmatic problems (PPSEM) and language (LESP) were found.
Conclusions:
Our preliminary results suggest the usefulness of the neuro-psychomotor treatment in children with ASD. Although promising, these findings need to be tested further to better understand the long-term effects of this specific type of approach.
Autism spectrum disorder (ASD) is a neurodevelopmental condition with onset in early childhood, characterized by deficits in social interaction and communication, stereotypic behaviors, insistence on sameness, restricted interests, and abnormal sensory processing. Its prevalence has risen during the last three decades from 2–5/10,000 to 1:59 children. ASD encompasses a collection of neurodevelopmental conditions sharing similar behavioral features but extremely heterogenous etiopathogenetic underpinnings. This chapter initially reviews the history of the concept of “autism,” the clinical diagnosis, epidemiology, comorbidities, developmental trajectories, and early signs. The pathophysiology of ASD is then described, spanning neuropsychology, neuroanatomy, functional brain imaging, and electrophysiology, as well as systemic gastrointestinal and immune dysfunction. The complex etiology of ASD spans from genetic syndromes and nonsyndromic autisms due to rare and common variants to environmental forms and epigenetic contributions. Current evidence-based clinical pharmacological and behavioral intervention paradigms are finally outlined, as well as therapeutic perspectives opened by experimental psychopharmacology and induced pluripotent stem cell models.
An early diagnosis of autism spectrum disorder, leading to a timely enabling intervention, is associated with a better long-term prognosis and allows the early detection of any medical comorbidities that are sometimes found in individuals with autism. It is, therefore, an important challenge to begin the diagnostic procedure of these children as soon as possible. Nowadays, much progress has been made in this respect compared with the past, but considerable work remains. A fundamental role in starting a correct and timely diagnostic procedure is obviously played by the pediatrician. Today, many tools are available for the early screening of autism in the general population, but unfortunately, their real effectiveness has yet to be established. In this narrative review, we address the topic of the early diagnosis of autism spectrum disorder, emphasizing, in particular, those that are now considered the first warning signs. We list a few of the most important signs to consider when a child aged around 18 months presents to a pediatrician, subdivided into three subgroups: social-communication skills; patterns of behavior, interests, or activities; and sensory behaviors and reactivity/temperament. We deal separately with the possible presence of slight motor signs, which can also go unnoticed, but probably they should be considered as very early signs appearing even before social-communication deficits.
A previously described coefficient of agreement for nominal scales, kappa, treats all disagreements equally. A generalization to weighted kappa (Kw) is presented. The Kw provides for the incorpation of ratio-scaled degrees of disagreement (or agreement) to each of the cells of the k * k table of joint nominal scale assignments such that disagreements of varying gravity (or agreements of varying degree) are weighted accordingly. Although providing for partial credit, Kw is fully chance corrected. Its sampling characteristics and procedures for hypothesis testing and setting confidence limits are given. Under certain conditions, Kw equals product-moment r. The use of unequal weights for symmetrical cells makes Kw suitable as a measure of validity.
Ratings of family home movies of 12 infants (0 to 2 years old) who were later diagnosed as autistic and 12 normal infants were performed by two diagnosis-blind psychiatrists with Infant Behavior Summarized Evaluation scale. The objective was to identify early symptoms of autism and their intensity and frequency before and after 1 year of age. Several pathological types of behavior related to socialization, communication, motility, and attention were noted during the first year of infant life and differentiated autistic and normal groups. These same differentiating behaviors, observed again in the second year, were more intense and associated with other pathological types of behavior, in particular, gaze avoidance, hypoactivity, and absence of emotional expressions. Analysis of the evolution of behavioral pathology in autistic children as a group during the 2 first years of life confirms the persistence of and the increase in some types of abnormality related to socialization, communication, motility, and attention functions. The limitations and values of this study concerning the early identification of autistic symptoms and functional impairments from home movies for diagnosis and establishing individualized treatment program are discussed.
Many authors have reported on the presence of movement disturbance symptoms in some individuals with autism. Typically, these symptoms have been seen as peripheral to autism or as belonging to a co-occurring syndrome. Some have dismissed these symptoms as having no apparent impact on the presence of behaviors defined as the core characteristics of autism. In this article we considered the relation between symptoms of movement disturbance and symptoms of autism and included our speculative and exploratory analyses of shared symptoms. The analyses point out the difficulties posed by current definitions of autism. We proposed that symptoms of movement disturbance can affect a person's experience of life and how he or she may be perceived by others.
A neuropathological study of autism was established and brain tissue examined from six mentally handicapped subjects with autism. Clinical and educational records were obtained and standardized diagnostic interviews conducted with the parents of cases not seen before death. Four of the six brains were megalencephalic, and areas of cortical abnormality were identified in four cases. There were also developmental abnormalities of the brainstem, particularly of the inferior olives. Purkinje cell number was reduced in all the adult cases, and this reduction was sometimes accompanied by gliosis. The findings do not support previous claims of localized neurodevelopmental abnormalities. They do point to the likely involvement of the cerebral cortex in autism.
Unlabelled:
The aim of the study was to document the early developmental course of neurological signs in a group of preterm infants at risk for hemiplegia due to unilateral intraparenchymal echodensity (UIPE). Sixteen preterm infants with UIPE and sixteen controls were given serial neurological examinations, according to the protocols currently adopted in the different NICUs of the project. Moreover, the quality assessment of their general movements (GMs) was assessed subsequently from videotapes, from birth until around four months postterm. At two years, 12 of the UIPE infants showed hemiplegia and one suffered from asymmetrical diplegia. The findings of the traditional neurological examination were abnormal for the large majority of the UIPE infants, although normal findings were also recorded in some cases, especially during the preterm period. Asymmetries were found after term age in nine UIPE and in two control infants. From the first observation onwards, all infants with UIPE showed bilaterally abnormal GMs and in those with unfavourable outcome fidgety movements (FMs) were absent. At the FMs period (9-16 weeks postterm), all infants with subsequent hemiplegia showed asymmetry of distal segmental movements which were reduced or absent on the side contralateral to the lesion.
Conclusions:
Unilateral brain lesions induce clear neurological signs and abnormal GMs in particular, although these abnormalities are not initially asymmetrical. A reduction of segmental movements on one side of the body during the third month postterm is highly predictive of hemiplegia.
Autism is associated with a wide and complex array of neurobehavioural symptoms. Examination of the motor system offers a particularly appealing method for studying autism by providing information about this syndrome that is relatively immune to experimental influence. In this article, we considered the relationship between possible movement disturbance and symptoms of autism and introduced an experimental model that may be useful for rehabilitation and diagnostic purposes: the reach-to-grasp movement. Research is reviewed that characterizes kinematically the reach-to-grasp movement in children with autism compared with age-matched 'controls'. Unlike the age-matched children, autistic children showed differences in movement planning and execution, supporting the view that movement disturbances may play a part in the phenomenon of autism.
The experiments strongly suggested that the reason why Purkinje cells die so easily after global brain ischemia relates to deficiencies in aldolase C and EAAT4 that allow them to survive pathologically intense synaptic input from the inferior olive after the restoration of blood flow. This conclusion is based on: (a) the remarkably tight correspondence between the regional absence of aldolase C and EAAT4 in Purkinje cells and the patterned loss of Purkinje cells after a bout of global brain ischemia; (b) the necessity of the olivocerebellar pathway for the ischemic death of Purkinje cells; and (c) the build-up of pathologically synchronous and high-frequency burst activity within the inferior olive during recovery from ischemia. Indeed, the correspondence between the absence of aldolase C and EAAT4 to sensitivity to ischemia could be demonstrated for zones of Purkinje cells as small as two neurons. A second finding was that Purkinje cells are not uniformly sensitive to transient ischemia, since they die most frequently in zones where aldolase C and EAAT4 are absent. One implication of the experiment is that factors beyond the unique synaptic and membrane properties of Purkinje cells play an important role in determining this neuron's high sensitivity to ischemia. The data strongly imply that two properties of Purkinje cells that make them susceptible to ischemic death are their reduced capability to sequester glutamate and reduced ability to generate energy during anoxia. The patterned death of Purkinje cells is sufficient to induce a form of audiogenic myoclonus, as determined with a neurotoxic dose of ibogaine. Ibogaine-induced myoclonus is recognized behaviorally as a reduced ability to habituate to a startle stimulus and resembles the myoclonic jerk of rats during recovery from a prolonged bout of global brain ischemia. Commonalities of ischemia and ibogaine-induced neurodegeneration are the intricately striped Purkinje cell loss in the posterior lobe and a nearly complete deafferentation of the lateral aspect of the fastigial nucleus from the cerebellar cortex, in particular the dorsolateral protuberance. Thus, the data point strongly to a cerebellar contribution to audiogenic myoclonus. Single-neuron electrophysiology experiments in monkeys have demonstrated that the evoked activity in the deep cerebellar nuclei occurs too late to initiate the startle response (60) and electromyography of the postischemic myoclonus of rats corroborates this view (see Chapter 31) (20). However, the nearly complete loss of GABAergic terminals in the dorsolateral protuberance after Purkinje cell death would be expected to dramatically increase its tonic firing and the background excitation of the brain-stem structures that it innervates. The fastigial nucleus innervates a large number of autonomic and motor structures in the brainstem and diencephalon, including the ventrolateral nucleus of the thalamus and the gigantocellular reticular nucleus in the medulla--structures that have been implicated in human posthypoxic myoclonus (6, 7). We propose that the posthypoxic myoclonic jerk of rats is, at least in part, due to disinhibition of the fastigial nucleus produced by patterned Purkinje cell death in the vermis. The argument is as follows: the loss of GABAergic inhibition in the fastigial nucleus after ischemia leads to diaschisis of the motor thalamus and reticular formation which, in turn, is responsible for enhanced motor excitability and myoclonus. That the audiogenic myoclonus after global brain ischemia in the rat gradually resolves over a period of 2 to 3 weeks is consistent with this view, as restoration of background excitability after CNS damage in rats has been documented to occur within this time-frame (61). Our view brings together the physiologic finding that posthypoxic myoclonus appears to originate in the sensory-motor cortices and/or reticular formation with the consistent anatomical finding of Purkinje cell loss after ischemia, and explains the puzzle of Marsden's unique cases of myoclonus associated with coeliac disease (1). Moreover, our argument is consistent with findings both in rats (62, 63) and humans (64) that damage to the vermis impairs the long-term habituation of the startle reflex. It remains to be determined whether the pathologically enhanced startle responses after vermal damage resemble brain-stem reticular or cortical myoclonus at the electrophysiologic level of analysis. What is the purpose of the regional expression of aldolase C and EAAT4 in Purkinje cells? The close correspondence between the spatial distribution of aldolase C and the parasagittal anatomy of the cerebellum (48) has led to the view that aldolase C may help specify connectivity during development. While the present experiments do not address this issue, they underscore the fact that aldolase plays a fundamental role in metabolism. Because Purkinje cells have a repressed expression of aldolase A (31), whatever role the absence of aldolase C may play during development comes at the price of metabolic frailty later in adulthood. From another point of view, aldolase C and EAAT4 appear to confer upon Purkinje cells the ability to survive their own climbing fiber. Indeed, climbing fibers form a distributed synapse that synchronously releases glutamate (or aspartate) at all levels of the dendritic tree simultaneously (65, 66). Such synchronous activation triggers calcium influx throughout the Purkinje cell dendrites at a magnitude that is unparalleled in the nervous system (12), and, thus, places an extraordinarily high metabolic demand on the Purkinje cell. The apparently reduced level of aldolase in a subpopulation of Purkinje cells provides the condition for energy failure and death during anoxia so long as the climbing fibers are intact or when climbing fiber activation is pharmacologically enhanced under normoxic conditions, such as after ibogaine (53-56). Lastly, the argument that diaschisis produced by patterned cerebellar degeneration leads to thalamo-cortical and reticular hyperexcitability agrees with C. David Marsden and his colleagues' bold demonstration of an inhibitory influence of cerebellar cortex on motor cortex in humans (67). Our anatomic data indicate that the spatially distinct zones of Purkinje cells, which are killed by global brain ischemia, may be the origin of such inhibition.
The cerebellum is important for movement control and plays a particularly crucial role in balance and locomotion. As such, one of the most characteristic signs of cerebellar damage is walking ataxia. It is not known how the cerebellum normally contributes to walking, although recent work suggests that it plays a role in the generation of appropriate patterns of limb movements, dynamic regulation of balance, and adaptation of posture and locomotion through practice. The purpose of this review is to examine mechanisms of cerebellar control of balance and locomotion, emphasizing studies of humans and other animals. Implications for rehabilitation are also considered.
It has been said that people with autism suffer from a lack of “central coherence,” the cognitive ability to bind together a jumble of separate features into a single, coherent object or concept ([Frith, 1989][1]). Ironically, the same can be said of the field of autism research, which all too
Autism spectrum disorders (ASD) are thought to be present right from birth, even if a minority of children displays a normal course during infancy followed by a regression during the second year of life. However, established criteria are not yet available to differentiate these different courses of ASD, and data coming from different sources have not yet been organized into a clear definition. The aim of this study was to elucidate the time of onset, as well as type, frequency and stability of symptoms during the first year of life in ASD. The behavioral summarized evaluation scale, applied to 40 home movies of children later diagnosed as having ASD, showed that most of the subjects (87.5%) display symptoms within the first year of life, when only a small group (12.5%) is completely symptom free. A group of more rated symptoms was found, constituting a typical pattern characterized by being withdrawn, and displaying poor social initiative, hypoactivity, and lack of emotional modulation. The importance of these findings is discussed in relation to early diagnosis and treatment.
This article focuses on postural anticipation and multi-joint coordination during locomotion in healthy and autistic children. Three questions were addressed. (1) Are gait parameters modified in autistic children? (2) Is equilibrium control affected in autistic children? (3) Is locomotion adjusted to the experimenter-imposed goal? Six healthy children and nine autistic children were instructed to walk to a location (a child-sized playhouse) inside the psychomotor room of the pedopsychiatric centre located approximately 5 m in front of them. A kinematic analysis of gait (ELITE system) indicates that, rather than gait parameters or balance control, the main components affected in autistic children during locomotion are the goal of the action, the orientation towards this goal and the definition of the trajectory due probably to an impairment of movement planning.
Autistic patterns become established and fixed by the end of the second year of life. Therefore it is crucial to recognize early preautistic signs. It is possible to spot them during the first 6 months of an infant's life. The most significant prodromal symptoms are: restricted affect expression and neutral, "indifferent" face expression, lack of a direct eye-contact or fleeting eye-contact without face tracking, excessive passivity, excessive and aimless activity, recoiling from parents' touch, self-preoccupation, regulatory difficulties (sleeping and eating difficulties, excessive crying, distress by nursing), atypical motor development, atypical increase in head size, parent's feeling that "something is wrong", greater interest in objects that people from the birth. Even if these symptoms are observed it is not enough to diagnose autism, but it indicates preautistic difficulties and therefore the family should be referred to an early intervention centre as fast as possible.
A neuropathological study of autism was established and brain tissue examined from six mentally handicapped subjects with autism. Clinical and educational records were obtained and standardized diagnostic interviews conducted with the parents of cases not seen before death. Four of the six brains were megalencephalic, and areas of cortical abnormality were identified in four cases. There were also developmental abnormalities of the brainstem, particularly of the inferior olives. Purkinje cell number was reduced in all the adult cases, and this reduction was sometimes accompanied by gliosis. The findings do not support previous claims of localized neurodevelopmental abnormalities. They do point to the likely involvement of the cerebral cortex in autism.
Autistic probands exhibit impaired spatial accuracy and impaired response suppression errors during a delayed oculomotor response task. Family members of autistic probands, and thus the possible familial nature of these deficits, have not been assessed. Eleven parents of autistic probands and 17 adults from unaffected families, ages 25–50 years, completed oculomotor delayed-response tasks. Parents of autistic probands demonstrated poorer spatial accuracy than the comparison group (p = .002), with no significant differences between groups on percentage of premature saccades or latency of remembered saccades. Spatial working memory deficits, as measured by the delayed oculomotor response task, appear to be familial in families with an autistic proband. These deficits deserve further evaluation as a potential endophenotypic marker for genetic risk for autism.
Compared the motor impairment levels of Asperger syndrome and high functioning autistic children using a standardized test, the Test of Motor Impairment-Henderson Revision. The two groups did not differ on either total or subscale impairment scores. Intelligence level was negatively correlated with motor impairment although the relationship was mostly accounted for by the Asperger children. There was considerable variability within both clinical groups but 50% of Asperger children and 67% of autistic children showed a clinically significant level of motor impairment. Results offer no support for clumsiness as a diagnostically differentiating feature of these disorders.
We analyze the behavioral and motor disturbances in childhood autism. On the basis of analogy to signs and conditions seen in adult neurology, we propose that the syndrome results from dysfunction in a system of bilateral neural structures that includes the ring of mesolimbic cortex located in the mesial frontal and temporal lobes, the neostriatum, and the anterior and medial nuclear groups of the thalamus. The mesolimbic cortex is cytoarchitectonically, angioarchitectonically, and neurochemically distinct and, along with the striatum, forms the entire target area of dopaminergic mesencephalic neurons. This raises the possibility that autism is related to neuromediator imbalance in those structures. Such dysfunction might be the result of macroscopic or microscopic changes in the target area or in structures functionally influencing them, consequent to a variety of causes such as perinatal viral infection, insult to the periventricular watershed area, or genetically determined neurochemical abnormalities.
The Infant Behavioral Summarized Evaluation (IBSE) is a rating scale adapted from the Behavioral Summarized Evaluation (BSE) and specifically related to the assessment of behaviors of young children having autistic disorders. Content validity and reliability studies described in the paper were made from behavior ratings of videotapes for 89 children aged from 6 to 48 months. Results show a significant group of 19 items including some characteristic early autistic behaviors (communicative and social abnormalities) and some that are less commonly described in the syndrome (attentional, perceptive, and adaptive disorders). The value of the use of this scale for clinicians and professionals involved in behavioral evaluations and treatment of young children with developmental disorders and the necessity for further psychometric investigations are discussed.
The Behavioral Summarized Evaluation (BSE), is a 20-item paper-and-pencil rating scale specifically designed for the measurement of behavioral parameters which could be related to biological data in autistic children involved in educational programs, neurophysiological studies, and therapeutic trials. The development of the scale, the validity, and reliability studies are presented in this paper. The results suggest that the BSE is an acceptable tool for the assessment of autistic behaviors, easy to handle, and accessible to both professionals and paraprofessionals of the medico-educative staff. It is a useful addition to the bioclinical researcher's evaluation battery for bioclinical and therapeutic studies. However, more work is suggested to further investigate the psychometric properties of this behavior assessment instrument.
2-Deoxy-2[18F]fluoro-D-glucose positron emission tomography performed in human infants during development revealed progressive
changes in local cerebral glucose utilization. In infants 5 weeks of age and younger, glucose utilization was highest in the
sensorimotor cortex, thalamus, midbrain-brainstem, and cerebellar vermis. By 3 months, glucose metabolic activity had increased
in the parietal, temporal, and occipital cortices and the basal ganglia, with subsequent increases in frontal and various
association regions occurring by 8 months. These functional changes measured with positron emission tomography are in agreement
with behavioral, neurophysiological, and anatomical alterations known to occur during infant development.
The early development of walking was investigated in 25 normal fullterm and in 25 low-risk preterm infants. All subjects were videorecorded within 3-4 weeks of the beginning of independent walking and again 4 months later. Analysis of the videos was carried out according to a predetermined list of items, with a semiquantitative score for each. The results indicate wide interindividual differences in normal infants in the form of independent walking. Several items seemed to be associated in different ways in different individuals. Age of onset, as long as the corrected age was considered, did not differ between preterm and fullterm infants, neither did their walking patterns. Gait asymmetries were often observed in both groups and they were related with asymmetries observable in prewalking locomotor behaviour. Toe-strike often occurred at the beginning of walking, but not after 4 months; in preterm infants the toe strike pattern correlated significantly with certain motor characteristics observed during the first weeks of life.
To assess gait in patients with autism.
Clinical and physiologic assessment.
Research hospital.
Five adults with autism and five healthy, age-matched control subjects.
Clinical and biomechanical assessment.
Clinical assessment showed mild clumsiness in four patients and upper limb posturing during gait in three patients. The velocity of gait, step length, cadence, step width, stance time, and vertical ground reaction forces were normal in all patients. The only significant abnormality was decreased range of motion of the ankle. Some patients exhibited slightly decreased knee flexion in early stance. Clinically, the gait appeared to be irregular in three patients, but the variability was not significantly increased.
The findings in patients with autism indicate a nonspecific, neurological disturbance involving the motor system. The normal velocity of gait and the normal step length argue against a parkinsonian-type disturbance, whereas the clinical picture suggests a disturbance of the cerebellum.
A review of the neuropathology of infantile autism shows abnormalities in the limbic forebrain and in cerebellar circuits. The role of the cerebellar lesions in the symptomatology of infantile autism is unknown. The cerebellar findings appear to date from a fetal stage of development with evidence for an ongoing process after birth. The timing of the findings in the limbic system is unknown. A postulated role for these findings in the limbic system in infantile autism is presented.
All of the 17 autistic children studied in the present paper showed disturbances of movement that with our methods could be detected clearly at the age of 4-6 months, and sometimes even at birth. We used the Eshkol-Wachman Movement Analysis System in combination with still-frame videodisc analysis to study videos obtained from parents of children who had been diagnosed as autistic by conventional methods, usually around 3 years old. The videos showed their behaviors when they were infants, long before they had been diagnosed as autistic. The movement disorders varied from child to child. Disturbances were revealed in the shape of the mouth and in some or all of the milestones of development, including, lying, righting, sitting, crawling, and walking. Our findings support the view that movement disturbances play an intrinsic part in the phenomenon of autism, that they are present at birth, and that they can be used to diagnose the presence of autism in the first few months of life. They indicate the need for the development of methods of therapy to be applied from the first few months of life in autism.
There is increasing support for the existence of 'social intelligence' [Humphrey (1984) Consciousness Regained], independent of general intelligence. Brothers et al. 1990) J. Cog. Neurosci., 4, 107-118] proposed a network of neural regions that comprise the 'social brain': the orbito-frontal cortex (OFC), superior temporal gyrus (STG) and amygdala. We tested Brothers' theory by examining both normal subjects as well as patients with high-functioning autism or Asperger syndrome (AS), who are well known to have deficits in social intelligence, and perhaps deficits in amygdala function [Bauman & Kemper (1988) J. Neuropath. Exp. Neurol., 47, 369]. We used a test of judging from the expressions of another person's eyes what that other person might be thinking or feeling. Using functional magnetic resonance imaging (fMRI) we confirmed Brothers' prediction that the STG and amygdala show increased activation when using social intelligence. Some areas of the prefrontal cortex also showed activation. In contrast, patients with autism or AS activated the fronto-temporal regions but not the amygdala when making mentalistic inferences from the eyes. These results provide support for the social brain theory of normal function, and the amygdala theory of autism.
This retrospective video study explored the usefulness of sensory-motor measures in addition to social behaviors as early predictors of autism during infancy. Three groups included 11 children with autism, 10 with developmental disabilities, and 11 typically developing children. Home videos were edited to obtain a 10-minute cross-section of situations at 9-12 months for each subjects. Using interval scoring, raters coded several behavioral categories (i.e., Looking, Affect, Response to Name, Anticipatory Postures, Motor/Object Stereotypies, Social Touch, Sensory Modulation). Nine items, in combination, were found to discriminate the three groups with a correct classification rate of 93.75%. These findings indicate that subtle symptoms of autism are present at 9-12 months, and suggest that early assessment procedures need to consider sensory processing/sensory-motor functions in addition to social responses during infancy. Furthermore, prior to a time that they reported autistic symptoms, caregivers used compensatory strategies to increase the saliency of stimuli in order to engage their children more successfully; these strategies may provide a window for earlier diagnosis.
Autism is a developmental disorder with variable severity, occurring at all levels of cognitive ability and having a number of slightly different clinical presentations. It is associated with neuropsychological deficits that occur in other conditions also, but its pattern may be specific to autism. Genetic and environmental early insults to brain development are etiological determinants of the disorder. Brain circuitries important for social, communicative, and integrational purposes have been suggested to be dysfunctional in autism. There could be at least two different pathways to autism, one connected with primary temporofrontal dysfunction (and late prenatal-early postnatal origins) and another linked to primary brain-stem dysfunction (and early prenatal origins). Further study of neurodevelopmental and neuropsychological processes in autism will help elucidate not only the pathological mechanisms involved in the specific syndromes but also the underpinnings of normal brain development.
On the basis of the literature on autism, it was hypothesized that children with autism have deficits in attentional (dis-)engagement mechanisms.
A saccadic gap-overlap task was used to study visual engagement and disengagement in 16 high-functioning autistic children of about 10 years of age and 15 age- and IQ-matched normal control children. Subjects were asked to make saccadic eye movements from a fixation point to a suddenly appearing target as fast as possible. The saccadic reaction time was compared in two conditions: 1) the overlap condition, in which the fixation point was continuously visible, and 2) the gap condition, in which the fixation point was turned off 200 msec before the target appeared.
Although no differences between the groups in either condition was observed, the gap effect (i.e., the difference in saccadic reaction time between the overlap condition and the gap condition) was smaller in the autistic group than in the control group.
We concluded that autistic children show a lower level of attentional engagement.