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Advancing early detection of autism spectrum disorder by applying an integrated two-stage screening approach
Journal of Child Psychology and Psychiatry
Abstract
Few field trials exist on the impact of implementing guidelines for the early detection of autism spectrum disorders (ASD). The aims of the present study were to develop and evaluate a clinically relevant integrated early detection programme based on the two-stage screening approach of Filipek et al. (1999), and to expand the evidence base for this approach.
The integrated early detection programme encompassed: 1) training relevant professionals to recognise early signs of autism and to use the Early Screening of Autistic Traits Questionnaire (ESAT; Dietz, Swinkels et al., 2006; Swinkels, van Daalen, van Engeland, & Buitelaar, 2006), 2) using a specific referral protocol, and 3) building a multidisciplinary diagnostic team. The programme was evaluated in a controlled study involving children in two regions (N = 2793, range 0-11 years). The main outcome variables were a difference in mean age at ASD diagnosis and a difference in the proportion of children diagnosed before 36 months.
ASD was diagnosed 21 months (95% CI 9.6, 32.4) earlier in the experimental region than in the control region during the follow-up period, with the mean age at ASD diagnosis decreasing by 19.5 months (95% CI 10.5, 28.5) from baseline in the experimental region. Children from the experimental region were 9.4 times (95% CI 2.1, 41.3) more likely than children from the control region to be diagnosed before age 36 months after correction for baseline measurements. Most of these early diagnosed children had narrowly defined autism with mental retardation.
The integrated early detection programme appears to be clinically relevant and led to the earlier detection of ASD, mainly in children with a low IQ.
... There is evidence that this approach may assist in the early detection of ASD in children between 16 and 40 months of age . Thus, studies showed that compared with the usual procedures, screening for ASD contributed to lowering the age at diagnosis by 14 to 24 months (Li et al., 2018;Oosterling et al., 2010;Robins et al., 2014) and significantly increased the proportion of children diagnosed before age 36 months (Nygren et al., 2012;Oosterling et al., 2010). ...
... There is evidence that this approach may assist in the early detection of ASD in children between 16 and 40 months of age . Thus, studies showed that compared with the usual procedures, screening for ASD contributed to lowering the age at diagnosis by 14 to 24 months (Li et al., 2018;Oosterling et al., 2010;Robins et al., 2014) and significantly increased the proportion of children diagnosed before age 36 months (Nygren et al., 2012;Oosterling et al., 2010). ...
... Extending the follow-up period for the participants in this study would probably have allowed us to identify more children with ASD. These children would presumably have been less impaired than those who had already been identified in the study sample, which agrees with findings on the higher age at ASD diagnosis (Jónsdóttir et al., 2011;Mazurek et al., 2014;Oosterling et al., 2010;Wiggins et al., 2006). The estimated prevalence of ASD in our study was 1.15%, with diagnosis occurring during the follow-up period when the participants were between 54 and 79 months of age. ...
The Modified Checklist for Autism in Toddlers, Revised with Follow-up was validated on a population sample in Reykjavik, Iceland. The participants (N = 1585) were screened in well-child care at age 30 months and followed up for at least 2 years to identify autism cases. The sensitivity, specificity, positive and negative predictive values were 0.62, 0.99, 0.72, and 0.99, respectively. True-positive children were diagnosed 10 months earlier than false-negative children. Autism symptom severity and the proportions of children with verbal and performance IQs/DQs < 70 were similar between groups. Although the sensitivity was suboptimal, the screening contributed to lowering the age at diagnosis for many children. Adding autism-specific screening to the well-child care program should be considered.
... However, to our knowledge, no research has been done into the effect of an educational program on physicians' self-confidence regarding the detection of ASD. Although previous studies indicate that educational programs for primary care providers (including YFC physicians) (Oosterling et al. 2010;Pijl et al. 2017), pediatricians, GPs (Bordini et al. 2015), and child and adolescent psychiatrists (Holzer et al. 2006) have a positive effect on the age at ASD diagnosis, this effect was not sustained at follow-up. These findings demonstrate the importance of the continuity of training for health professionals and for finding strategies to preserve this positive effect. ...
... comorbidity, early signals) ASD knowledge levels after the educational program. Other studies previously described improvements in in healthcare professionals' (GPs, primary care workers, pediatricians and other medical specialists) knowledge levels after interventions concerning ASD detection and identification, but none investigated the effects on ASD knowledge level over a longer period of time (Bordini et al. 2015;Oosterling et al. 2010). The programs used in these studies were not online-based and outcome variables focused more on mean age at ASD diagnosis than on ASD knowledge in the participating healthcare professionals (Bordini et al. 2015;Oosterling et al. 2010). ...
... Other studies previously described improvements in in healthcare professionals' (GPs, primary care workers, pediatricians and other medical specialists) knowledge levels after interventions concerning ASD detection and identification, but none investigated the effects on ASD knowledge level over a longer period of time (Bordini et al. 2015;Oosterling et al. 2010). The programs used in these studies were not online-based and outcome variables focused more on mean age at ASD diagnosis than on ASD knowledge in the participating healthcare professionals (Bordini et al. 2015;Oosterling et al. 2010). One study investigated knowledge acquisition as an effect of a training program for pediatricians and GPs on ASD identification. ...
We investigated the effect of a live online educational program in 93 Dutch Youth and Family Center (YFC) physicians who were screening for Autism Spectrum Disorder (ASD) in the general child population. The educational program raised the physicians’ level of specific ASD knowledge and it remained higher at six months follow-up (p < .01). Their self-confidence in detecting ASD was also higher and maintained at follow-up (p < .01). The educational program had no effect on the physicians’ stigmatizing attitudes toward mental illness nor on the number of potential ASD referrals in children of 4–6 years of age. In conclusion, the online educational program on early detection of ASD has a six month long effect on YFC physicians’ level of ASD knowledge and self-confidence.
... In order to lower the age at diagnosis, strategies for the early detection of ASD have been developed and promising results have been obtained in some non-randomized studies, showing positive effects on age at diagnosis (Chakrabarti et al., 2005;Holzer et al., 2006;Koegel et al., 2006), percentage of early identified ASD cases (Swanson et al., 2014), and self-efficacy of primary care providers (Mazurek et al., 2017). In a study that used a control region, Oosterling et al. (2010) examined the effect of a screening approach for the early detection of ASD that was integrated in routine developmental surveillance in a specific region of the Netherlands. This early detection program involved (a) training of primary care providers to recognize early signs of autism, (b) use of a specially designed referral protocol that included the Early Screening of Autistic Traits (ESAT) questionnaire Swinkels et al., 2006), and (c) formation of a multidisciplinary diagnostic team at the regional psychiatric academic center. ...
... The aim of this study was to evaluate the sustainability of the integrated early detection program developed by Oosterling et al. (2010). The age at referral was recorded of children (aged 0-6 years) subsequently diagnosed with ASD (N = 513) or a non-ASD condition (N = 722) before, during, and after the early detection program. ...
... To facilitate the early detection of ASD in the Netherlands, our group used an integrated early detection program (Oosterling et al., 2010), which was approved by the Dutch Ethical Committee. In the current follow-up study, we performed a natural examination of the age at referral before (January-December 2003), during (January 2004-December 2006, and 2 years after (January 2009-December 2011) the early detection program. ...
The importance of early detection of autism spectrum disorder followed by early intervention is increasingly recognized. This quasi-experimental study evaluated the long-term effects of a program for the early detection of autism spectrum disorder (consisting of training of professionals and use of a referral protocol and screening instrument), to determine whether the positive effects on the age at referral were sustained after the program ended while controlling for overall changes in the number of referrals. Before, during, and after the program, the proportion of children referred before 3 years (versus 3–6 years) of age was calculated for children subsequently diagnosed with autism spectrum disorder (N = 513) or another, non-autism spectrum disorder, condition (N = 722). The odds of being referred before 3 years of age was higher in children with autism spectrum disorder than in children with another condition during the program than before (3.1, 95% confidence interval: 1.2–7.6) or after (1.7, 95% confidence interval: 1.0–3.0) the program but was not different before versus after the program. Thus, although the program led to earlier referral of children with autism spectrum disorder, after correction for other referrals, the effect was not sustained after the program ended. This study highlights the importance of continued investment in the early detection of autism spectrum disorder.
... 14 The latest study done in China showed sensitivity and specificity of M-CHAT-R/F is found to be 0.963 and 0.865. 15 This cross-sectional study was conducted to screen toddlers between the ages of 16-30 months attending the Pediatric OPD of a tertiary care hospital in urban Maharashtra for ASD by applying M-CHAT-R/F. The main aim was to determine the prevalence of ASD in the target population and to show whether using M-CHAT-R/F is an effective screening instrument to identify toddlers at risk of developing ASD. ...
... The higher detection rate of the present study could be due to the increased sensitivity of M-CHAT-R/F compared to the screening tools employed in these studies. The combination of the twostage assessment of M-CHAT-R/F, screening, and structured follow-up interviews increases the diagnostic validity and decreases the number of false positive results 15 . Screening of toddlers at 16-30 months ensures early diagnosis of ASD and delays so that the necessary interventions can be commenced at the right developmental stages crucial for children's development 18 . . ...
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder listed under the umbrella of developmental disorders or intellectual disabilities that affect social communication and behavior. Early identification is critical for initiating timely interventions, which improve developmental outcomes. The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (MCHAT-RF) is an evidenced-based screening tool for identifying children at risk for ASD between 16 and 30 months and with a follow-up for toddlers who are scored medium risk in 1st stage between 24 and 30 months. The purpose of this study was to assess the magnitude of ASD and to assess the performance of M-CHAT-R/F as a screening tool in toddlers. A cross-sectional study was conducted on 2,400 toddlers aged 16-30 months attending the Pediatric OPD of a tertiary care center in urban Maharashtra. Screening was performed using M-CHAT-R/F, a 2-stage tool involving an initial questionnaire and structured follow-up interviews for at-risk responses. Screen-positive cases underwent further diagnostic evaluation by a child psychiatrist. Of the 2,400 toddlers screened, 2040 (85%) were classified as low risk (LR), 349 (14.5%) as moderate risk (MR), and 11 (0.5%) as high risk (HR). Follow-up screening identified 35 screen-positive cases among moderate-risk toddlers, leading to 8 new ASD diagnoses and 18 cases of developmental delay. The overall prevalence of ASD in our study was 0.75%. Our study demonstrates the feasibility and reliability of M-CHAT-R/F for ASD screening in resource-limited settings.
... Previous research indicated that the level of knowledge on ASD varies among primary care providers in the United States (Dosreis et al. 2006;Heidgerken et al. 2005). A Dutch study showed that training Dutch preventive care workers (including YFC physicians) on the early signs of ASD, ASD screening tools and protocols had a positive effect on its early detection, referral and diagnosis (Oosterling et al. 2010). However, the level of ASD knowledge was not explicitly examined in that study. ...
... Although it is widely assumed that a higher level of ASD knowledge in preventive care providers should be associated with enhanced or earlier detection of ASD, we only know of a few studies on this subject. Two studies reported a positive effect on the child's age at diagnosis from implementing early detection strategies in (Chakraharti et al. 2005;Oosterling et al. 2010), but these studies did not evaluate the providers' actual level of ASD knowledge. We found one pilot intervention study that evaluated ASD knowledge in primary care providers (pediatricians and general practitioners), which showed that a higher level of knowledge was related to more suspected cases of ASD being referred to specialists (Bordini et al. 2015). ...
Professionals’ limited knowledge on mental health and their stigmatizing attitudes toward mental illness can delay the diagnosis of autism. We evaluated the knowledge on Autism Spectrum Disorder (ASD) and stigmatizing attitudes in 93 physicians at Dutch Youth and Family Centers (YFC). These physicians screen for psychiatric symptoms in children. We show that their general ASD knowledge scored 7.1 (SD 1.2), but their specific ASD knowledge was only 5.7 (SD 1.7) (weighted means on 1–10 scale, 1 = least knowledge, 10 = most knowledge). Our physicians had positive attitudes toward mental illness (CAMI scores 2.18 (SD 0.33) to 2.22 (SD 0.40) on a 5-point Likert scale) but they had higher levels of stigmatizing attitudes than other Western healthcare professionals. Their levels were considerably lower than in non-Western professionals. We found no relations between ASD knowledge, stigmatizing attitudes and demographic variables. In conclusion, ASD knowledge and stigmatizing attitudes toward mental illness in Dutch YFC physicians require attention.
... Most studies on the precursors and early identification of ASD have been conducted in clinical samples, referred 1 3 samples, or genetically high-risk groups (i.e. baby siblings of older children diagnosed with ASD) Oosterling et al. 2010;Sacrey et al. 2015), whereas milder or later-emerging expressions of ASD in general population samples have received less attention (Deconinck et al. 2013). Naturally, all designs come with their own merits, and may complement each other. ...
... It is plausible that the questionnaires used are more suitable to identify general social-communicative problems than specific disorders within the autistic spectrum. This may implicate the need for improvement of adequate screening methods to detect (at least a subgroup of) children with abnormal developmental patterns potentially indicative of ASD, and to monitor their behaviour regularly and proactively, for instance, at well-baby clinics (Barbaro and Dissanayake 2009;Bradshaw et al. 2015;Oosterling et al. 2010;Zwaigenbaum et al. 2015a, b). ...
This longitudinal study focused on early behavioural problems and autistic traits. In a stratified, population-derived sample of 119 children, mothers reported through questionnaires on externalizing, internalizing, and social-communicative characteristics of their child in infancy (14 months) and toddlerhood (37 months), and on autistic traits at preschool age (4–5 years). Children with consistently normal behaviour from infancy to toddlerhood showed lower autistic traits at preschool age than children with deviant behaviour on one or both time points. High autistic traits at preschool age were predominantly preceded by problems in interaction, communication, language, play, and affect in infancy and/or toddlerhood, but also by inattention in toddlerhood. Adequate support and specific interventions in these domains are needed in an attempt to diminish further derailment of the child’s behaviour and development, and to prevent the full manifestation of ASD or related disorders such as ADHD.
... Respecto a los ítems, las dificultades sociocomu nicativas siempre están incluidas y el ítem 'falta de atención conjunta' es muy eficaz para identificar TEA [16], pero pocas herramientas incluyen la con ducta repetitiva. Hay que incluir también ítems de juego, manteniendo los de interacción social y co municación. ...
... Se recomienda la formación a profesionales sobre signos tempranos [19], ya que mejora los resultados del cribado. El proyecto DIANE [16] muestra que la formación facilita la detección. Si el profesional no recibe formación, hay más riesgo de fracaso por desacuerdo, miedo a cometer errores, desconoci miento o falta de criterio para determinar si el com portamiento del niño indica TEA. ...
... Autism diagnosis typically takes place during pre-school years but it is known that manifestation of disorder starts much earlier (Oosterling et al. 2010). However, absence of reliable markers for ASD poses a challenge and in this study, we explore the feasibility of finding a neural marker for autism detection. ...
... Future studies might be devoted to initially designing an experimental paradigm with larger group of subjects for developing a neural marker for autism. Second, they could be tested in younger population: in fact autistic symptoms develop as early as the first year (Oosterling et al. 2010). Nevertheless, even with the advent of early screening (Daniels et al. 2014), there still remains a delay between ASD manifestation and diagnosis; this delay leads to failure to provide early intervention and improved results. ...
Autism Spectrum Disorder results in deficit in social interaction, non-verbal communication and social reciprocity. Cognitive tasks pertaining to emotion processing are often preferred to distinguish the ASD children from the typically developing ones. We analysed the role of face and emotion processing in ASD and explored the feasibility of using EEG as a neural marker for detecting ASD. Subjects performed a visual perceptual task with face and nonface stimuli. Successful ASD detection was possible as early as 50 ms. post stimulus onset. Alpha and Beta oscillations seem to best identify autistic individuals. Multivariate pattern analysis and source localization studies points to the role of early visual processing and attention rather than emotion and face processing in detecting autism.
... Currently, ASD is diagnosed manually by doctors, called non-clinical analysis. A series of personal interactions are performed by doctors with the child and parents [3]. During interactions, doctors take information on family disease history and general behavioral observations, which were found to be different from other children of the parents. ...
Autism spectrum disorder (ASD) is a complex developmental issue that affects the behavior and communication abilities of children. It is extremely needed to perceive it at an early age. The research article focuses on attentiveness by considering eye positioning as a key feature and its implementation is completed in two phases. In the first phase, various transfer learning algorithms are implemented and evaluated to predict ASD traits on available open-source image datasets Kaggle and Zenodo. To reinforce the result, fivefold cross-validation is used on the dataset. Progressive pre-trained algorithms named VGG 16, VGG 19, InceptionV3, ResNet152V2, DenseNet201, ConNextBase, EfficientNetB1, NasNetMobile, and InceptionResNEtV2 implemented to establish the correctness of the result. The result is being compiled and analyzed that ConvNextBase model has the best diagnosing ability on both datasets. This model achieved a prediction accuracy of 80.4% on Kaggle with a batch size of 16, a learning rate of 0.00002, 10 epochs and 6 units, and a prediction accuracy of 80.71% on the Zenodo dataset with a batch size of 4, a learning rate of 0.00002, 10 epochs and 4 units. The accuracy of the model ConvNextBase is found challenging in nature as compared to an existing model. Attentiveness is a parameter that will accurately diagnose the visual behavior of the participant which helps in the automatic prediction of autistic traits. In the second phase of the proposed model, attentiveness is engrossed in identifying autistic traits. The model uses a dlib library that uses HOG and Linear SVM-based face detectors to identify a particular facial parameter called EAR and it is used to measure participants' attentiveness based on the eye gaze analysis. If the EAR value is less than 0.20 for more than 100 consecutive frames, the model concludes the participant is un-attentive. The model generated a special graph for a time period by continuously plotting the value of EAR based on the attention level. The average EAR value will depict the attentiveness of the participant.
... • The identification of ASD children near the age of two is done through interactive sessions that call for clinical professionals [23]. • The lack of availability of the appropriate physicians, especially in underdeveloped countries [27]. ...
Autism Spectrum Disorder is a neurological disorder in which an individual faces life-long effects in communication and interaction with others. Nowadays, the Autism Spectrum disorder ratio is increasing drastically more than ever before. Autism can be identified at all developmental levels as a ”behavioural condition,” and its symptoms often arise between the ages of two and four. The ASD issue starts during puberty and persists through adolescence and adulthood. Children with ASD use both nonverbal and verbal behaviour to communicate, and they struggle with joint attention and social reciprocity. Children with autism are frequently socially isolated as a result of these problems. Through very expensive and time-consuming screening exams, autism spectrum features can be identified. As one of the possible mirrors of the brain, children’s faces can be utilised as a biomarker and as a quick and convenient technique for the early identification of ASD. An effective, genuine, and automatic method of face-based spectrum disorder identification is required. In this study we compare the transfer learning approach used for autism identification with the convolutional neural network (CNN)-based efficient-net strategy to identify autistic children using facial images. We used an open-source Kaggle dataset and evaluated the model performance in terms of accuracy, confusion matrix, precision, recall, and F1 measure. Efficient shows an accuracy of 97% on the benchmark dataset and beats the baseline technique of transfer learning-based approaches. This study can be used to help medical professionals validate their initial screening procedures for finding youngsters with ASD disease.
... • ASD is diagnosed mainly by interactive sessions, so it requires clinical experts to diagnose children near two years of age [11]; • It is difficult for the parents to visit the specialists, and the availability of such physicians is much lower in rural communities or underdeveloped countries [12]; • Parents who are not familiar with and aware of ASD do not often consider the growth issues as their children's disease; • ...
Autism spectrum disorder (ASD) is a neurological illness characterized by deficits in cognition, physical activities, and social skills. There is no specific medication to treat this illness; only early intervention can improve brain functionality. Since there is no medical test to identify ASD, a diagnosis might be challenging. In order to determine a diagnosis, doctors consider the child’s behavior and developmental history. The human face can be used as a biomarker as it is one of the potential reflections of the brain and thus can be used as a simple and handy tool for early diagnosis. This study uses several deep convolutional neural network (CNN)-based transfer learning approaches to detect autistic children using the facial image. An empirical study is conducted to select the best optimizer and set of hyperparameters to achieve better prediction accuracy using the CNN model. After training and validating with the optimized setting, the modified Xception model demonstrates the best performance by achieving an accuracy of 95% on the test set, whereas the VGG19, ResNet50V2, MobileNetV2, and EfficientNetB0 achieved 86.5%, 94%, 92%, and 85.8%, accuracy, respectively. Our preliminary computational results demonstrate that our transfer learning approaches outperformed existing methods. Our modified model can be employed to assist doctors and practitioners in validating their initial screening to detect children with ASD disease.
... We studied individuals reported on in the study conducted by Visser et al. (2017), which included 252 children (82.1% boys). These children were enrolled between October 2003 and April 2007 in the DIANE study (Diagnosis and Intervention of Autism in the Netherlands; for details, see Oosterling et al. (2010). Children were enrolled between 1 and 4 years of age. ...
Network modeling of the social, communication and restrictive/repetitive behaviors (RRBs) included in the definition of Autism Spectrum Disorder was performed. The Autism Diagnostic Interview-Revised (ADI-R) assessed behaviors in 139 pre-school cases at two cross-sections that averaged 34.8 months apart. Cross-sectional networks were based on the correlation matrix of the ADI-R behavioral items and the “bootCross” method was developed and enabled the estimation of a longitudinal network. At both stages, RRB items/nodes formed a consistent peripheral cluster, while social and communication nodes formed a core cluster that diverged with time. These differences in the nature and evolution of the RRB and socio-communicative dimensions indicate that their inter-behavior dynamics are very different. The most central behaviors across stages are proposed as prime targets for efficient therapeutic intervention.
... In addition, the authors are working on a RITA-T training module to be available in the public domain. A two-level screening model [40] integrates a level-1 screening with a level-2 measure to identify those at risk for developmental delay, and further, those at a high risk for ASD. This approach will help to identify those at elevated risk for ASD (Fig. 1). ...
Early diagnosis of autism spectrum disorder (ASD) is essential for improved outcomes. There is a paucity of data on the prevalence of ASD in low- and middle-income countries (LMIC), but early identification may be further delayed in those communities. In this paper, recent studies on strategies for the early detection of ASD, and the prevalence of ASD in LMIC are reviewed. The limitations that can arise in the early identification of ASD in LMIC communities are discussed, and screening tools and strategies that can be helpful are identified. The goal is to recommend models that are culturally appropriate and scientifically valid, easily integrated within community settings while strengthening community systems and reducing disparities in the early identification of ASD. Starting locally by simplifying and demystifying the ASD identification process and building community connections will inform global researchers and policymakers while making a difference in the lives of the children and families affected by ASD.
... Además de las recomendaciones de la Asociación Neerlandesa de Psiquiatría (Nederlandse Vereniging voor Psychiatrie, 2009) y de la Asociación de Psicología de EE. UU. (American Psychological Association, 2017), una evaluación diagnóstica · N.º 78 -Diciembre 2021 · ISSN 2660-4485 · completa del autismo siempre debería incluir una evaluación amplia, que estudie todos los comportamientos problemáticos y posibles preocupaciones, con redacción de historias clínicas, pruebas múltiples y observaciones sobre el comportamiento, más de un informador y un equipo de evaluación multidisciplinar (Carnaby, 2007;Oosterling et al., 2010). Lo ideal es que el juicio clínico se apoye en instrumentos diagnósticos, y OASID puede ser uno de esos instrumentos. ...
A menudo, se consulta a los profesionales que prestan servicios educativos destinados a personas con discapacidad visual o sordoceguera sobre el comportamiento de este grupo de personas con discapacidades múltiples. Un ámbito de interés específico es la posible presencia de trastornos del espectro autista en esta población. Las características del comportamiento típicas del autismo también se encuentran con frecuencia en personas con discapacidad intelectual combinada con discapacidad visual o sordoceguera. Por causa de la superposición topográfica de características del comportamiento, puede resultar difícil diagnosticar el autismo en este grupo complejo de personas que muestran una combinación de discapacidades sensoriales e intelectuales, no pareciendo apropiados para este tipo de población los instrumentos para diagnosticar el autismo cuyo uso está más generalizado. OASID se ha desarrollado para abordar estos problemas de validez.
... However, OASID is not developed to replace the full diagnostic assessment procedure for ASD. It is always recommended to integrate OASID within a wider diagnostic assessment, using multiple tests, behavioural observations, multiple informants and a multidisciplinary assessment team (Carnaby, 2007;Oosterling, et al., 2010). ...
Observation of Autism spectrum disorder in people with sensory and intellectual disabilities, OASID, was developed as part of the PhD research project of Gitta de Vaan. This study was aimed at finding differentiating characteristics of Autism Spectrum Disorder (ASD) and intellectual disabilities combined with sensory impairments. This research was done between 2011 and 2016 at Radboud University, Nijmegen, the Netherlands (de Vaan, 2019).
The Dutch Psychiatric Association [Nederlandse Vereniging voor Psychiatrie] advised to use the ADI-R and ADOS as instruments when diagnosing ASD. This was described in their guidelines for diagnosis and treatment of ASD in children and youth. Both instruments are suitable for children aged 24 months and older (Nederlandse Vereniging voor Psychiatrie, 2009). However, people with multiple disabilities sometimes never reach the point in their development where they possess the skills that typically belong to someone with a developmental age of 24 months, or they develop these skills at a much later age. For this reason, and a lack of norms for people with multiple disabilities, the ADI-R and ADOS cannot be administered and interpreted validly in people with multiple disabilities. In people with combined sensory and intellectual disabilities, with suspected ASD, OASID can help as a part of the diagnostic process. Using a play session and observation, OASID can be used to assess the presence and severity of symptoms that
could be a sign of ASD. The strength of OASID is that it takes into account symptoms and behaviour that could be a consequence of a sensory or intellectual disability instead of ASD. OASID never replaces the full diagnostic process, but it complements anamnesis, analysis of client’s history, observation and conversations with parents or caregivers.
This manual is intended for clinicians who work with persons with combined sensory and intellectual disabilities. When you wish to use OASID it is important that you study the manual and that you are experienced with the target population and the diagnostic process. For more information on using OASID, or to discuss the possibilities for planning a workshop or lecture, you may contact Gitta de Vaan.
Gitta de Vaan
Vlijmen, the Netherlands, June 2019.
Email: oasid@gittadevaan.nl
Website: www.gittadevaan.nl/oasid
... OASID is echter niet bedoeld om de volledige diagnostiek rondom ASS te vervangen. Er wordt altijd aangeraden om OASID te integreren in een breder diagnostisch onderzoek, met meerdere tests, observatie en gebruik te maken van meerdere informanten en een multidisciplinair team (Carnaby, 2007;Oosterling, et al., 2010) OASID is ontwikkeld voor zowel volwassenen als kinderen en is onderzocht op personen met chronologische leeftijden tussen de 6 en 60 jaar. OASID is bedoeld voor personen met een matige, ernstige of diepe verstandelijke beperking in combinatie met een visuele beperking of doofblindheid. ...
Observation of Autism spectrum disorder in people with Sensory and Intellectual Disabilities, ofwel OASID, is tot stand gekomen in het kader van het promotie onderzoek van Gitta de Vaan. Het onderzoek richtte zich op onderscheidende kenmerken van Autisme Spectrum Stoornis (ASS) en verstandelijke beperkingen in combinatie met zintuiglijke beperkingen. Dit onderzoek is uitgevoerd in de periode 2011 – 2016 aan de Radboud Universiteit (de Vaan, 2019).
De Nederlandse Vereniging voor Psychiatrie heeft in haar richtlijn ‘Diagnostiek en behandeling van autismespectrumstoornissen bij kinderen en jeugdigen’ de ADI-R en de ADOS aanbevolen als instrumenten voor onderzoek naar ASS. Beide instrumenten zijn geschikt voor kinderen vanaf de leeftijd van 24 maanden (Nederlandse Vereniging voor Psychiatrie, 2009). Echter, personen met een meervoudige beperkingen beheersen soms nooit de vaardigheden die horen bij een ontwikkelingsleeftijd van 24 maanden, of beheersen deze pas op veel latere leeftijd. Om deze reden en daarnaast het ontbreken van normen voor mensen met meervoudige beperkingen kunnen de ADI-R en de ADOS bij deze doelgroep niet valide worden afgenomen. In gevallen wanneer er een vermoeden is van ASS kan OASID helpen als onderdeel van de onderkennende diagnostiek van personen met een gecombineerde verstandelijke en zintuiglijke beperking. Door middel van een spelsessie en observatie van het gedrag van een persoon met meervoudige beperkingen kan er een inschatting worden gemaakt van de aanwezigheid en de ernst van symptomen die duiden op ASS. De kracht van OASID is dat rekening wordt gehouden met symptomen die ook een gevolg kunnen zijn van de zintuiglijke of verstandelijke beperkingen. OASID vervangt nooit de volledige diagnostiek maar is een aanvulling op onder andere anamnese, dossieranalyse, observaties en gesprekken met ouders.
Deze handleiding is bedoeld voor clinici die werken met personen met een gecombineerde verstandelijke en zintuiglijke beperking. Wanneer u OASID wenst af te nemen is het belangrijk dat u deze handleiding goed bestudeert, en dat u ervaring heeft met de doelgroep en in de diagnostiek. Voor meer informatie over het gebruik van OASID of om mogelijkheden te bespreken voor het plannen van een workshop of lezing, kunt u contact opnemen met Gitta de Vaan.
Gitta de Vaan Vlijmen, mei 2019.
Email: oasid@gittadevaan.nl
Website: www.gittadevaan.nl/oasid
... The ADI-R may furthermore be subject to retrospective recall biases or may be affected by inaccurate caregiver memory, particularly if the caregiver was not concerned about their child's behavior in earlier childhood (16). This is reflected by low agreement between diagnoses based on ADI-R and those based on ADOS, particularly for older and atypical cases (7,(17)(18)(19)(20)(21). ...
Diagnosing autism spectrum disorder (ASD) requires extensive clinical expertise and training as well as a focus on differential diagnoses. The diagnostic process is particularly complex given symptom overlap with other mental disorders and high rates of co-occurring physical and mental health concerns. The aim of this study was to conduct a data-driven selection of the most relevant diagnostic information collected from a behavior observation and an anamnestic interview in two clinical samples of children/younger adolescents and adolescents/adults with suspected ASD. Via random forests, the present study discovered patterns of symptoms in the diagnostic data of 2310 participants (46% ASD, 54% non-ASD, age range 4–72 years) using data from the combined Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview—Revised (ADI-R) and ADOS data alone. Classifiers built on reduced subsets of diagnostic features yield satisfactory sensitivity and specificity values. For adolescents/adults specificity values were lower compared to those for children/younger adolescents. The models including ADOS and ADI-R data were mainly built on ADOS items and in the adolescent/adult sample the classifier including only ADOS items performed even better than the classifier including information from both instruments. Results suggest that reduced subsets of ADOS and ADI-R items may suffice to effectively differentiate ASD from other mental disorders. The imbalance of ADOS and ADI-R items included in the models leads to the assumption that, particularly in adolescents and adults, the ADI-R may play a lesser role than current behavior observations.
... -Implementing DSM-5 in ASD detection needs a handful of skilled physicians who may need a prolonged period to annotate the result. -Sometimes expert screening of DSM-5 may vary with different physicians [133,134] The difference in determining the severity level may also create difficulties in annotating the data. -Along with these, misclassifying 'late learners' as 'autistic individual' is a common phenomenon in ASD detection [135]. ...
Abstract Background/ Introduction: Autism Spectrum Disorder (ASD) is a neuro-developmental disorder that limits social and cognitive abilities. ASD has no cure so early diagnosis is important for reducing its impact. The current behavioural observation-based subjective-diagnosis systems (e.g., DSM-5 or ICD-10) frequently misdiagnose subjects. Therefore, researchers are attempting to develop automated diagnosis-systems with minimal human intervention, quicker screening time, and better outreach.
Method: This paper is a PRISMA-based systematic review examining the potential
of automated autism detection system with Human Activity Analysis (HAA) to look for distinctive ASD-characteristics such as repetitive behaviour, abnormal gait and visual saliency. The literature from 2011 onward is qualitatively and quantitatively analysed to investigate whether HAA can identify the features of ASD, the level of its classification accuracy, the degree of human intervention, and screening time. Based on these findings we discuss the approaches, challenges, resources, and future directions in this area.
Result: According to our quantitative assessment of the dataset[1], Inception
v3 and LSTM [1] give the highest accuracy (89%) for repetitive behavior. For
abnormal gait-based approach, the Multilayer Perceptron gives 98% accuracy
based on 18 features from dataset [2]. For gaze pattern, a saliency-metric
feature-based learning [3] gives 99% accuracy on dataset[4], while an algorithm
involving statistical features and Decision Trees yields an accuracy of 76% on
dataset [5].
Conclusion: In terms of the state-of-the-art, fully automated HAA systems
for ASD diagnosis show promise but are still in developmental stages. However,
this is an active research field, and HAA has good prospects for helping to
diagnose ASD objectively in less time with better accuracy.
... It is important to realize that OASID only gives an indication of the presence and de Vaan and Vervloed severity of autism symptoms, and it does not replace a full diagnostic assessment. Along with the recommendations of the Dutch Psychiatric Association (2009) and American Psychological Association (2019), a full diagnostic assessment of autism should always include a broad assessment, looking at all problematic behaviors and possible concerns, history taking, multiple tests, and behavioral observations, more than one informant and a multidisciplinary assessment team (Carnaby, 2007;Oosterling et al., 2010). Ideally, clinical judgment is supported by diagnostic instruments, of which OASID can be one. ...
Practice report of OASID. OASID is developed for the population of individuals with moderate to profound intellectual disabilities, combined with visual impairments or deafblindness. It is an elaboration of the Observation of Characteristics of Autism in Persons with Deafblindness of Hoevenaars-van den Boom et al. (2009) that was designed for people with deafblindness and profound intellectual disability. All items consider sensory and intellectual disabilities during the administration of items and interpretation of behavior. OASID consists of a semi-structured play session. Sessions last between 30 and 60 min and consist of five tasks administered in a playful manner. The administrator can adjust the type and level of both communication and play to the participant’s individual possibilities and impairments.
... A two-level ASD screening model concept is not new and was first described by Oosterling et al. (2010). It integrates a Level 1or universal screen, and a Level 2 or more disorder-specific screening test. ...
The objective of this study was to test a screening model that employs the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T), in an underserved community to improve ASD detection. We collaborated with a large Early Intervention (EI) program and trained 4 providers reliably on the RITA-T. Toddlers received the Modified Checklist for Autism in Toddlers (MCHAT-R/F), the RITA-T, developmental and autism testing, and a best-estimate clinical diagnosis. Eighty-One toddlers were enrolled: 57 with ASD and 24 with Developmental Delay (DD) non-ASD. Wait-time for diagnosis was on average 6 weeks. The RITA-T correlated highly with autism measures and EI staff integrated this model easily. The RITA-T significantly improved the identification and wait time for ASD in this underserved community.
... Daarnaast laat onderzoek zien dat de stabiliteit van de klinische diagnose op 2-jarige leeftijd hoog is [7,8]. Ook onderzoek in Nederland geeft aan dat vroege opsporing voor het derde levensjaar mogelijk is [9,10]. Desondanks worden veel kinderen pas opgespoord als ze al op school zitten, waardoor ze niet volledig gebruik kunnen maken van hun ontwikkelingspotentieel [11]. ...
Inleiding: In de Jeugdgezondheidszorg (JGZ)-richtlijn Autismespectrumstoornissen (ASS) zijn op basis van expert-opinion zeven ontwikkelingskenmerken uit het Van Wiechen-onderzoek aangeduid als alarmsignalen voor ASS. Dit onderzoek had als doel de criteriumvaliditeit van deze kenmerken vast te stellen. Methode: In de periode 2009–2013 werden de zeven alarmsignalen verzameld uit de dossiers van de JGZ bij 197 kinderen met ASS (cases) en bij 197 controles, waarbij gematcht werd op geslacht. We gingen na wat de sensitiviteit, specificiteit en diagnostische oddsratio (DOR) van deze alarmsignalen zijn. De gegevensverzameling vond plaats voor de aanpassing van de JGZ-richtlijn in 2015 en daarom kon alleen de criteriumvaliditeit van de oorspronkelijke formulering van de alarmsignalen worden nagegaan. Resultaten: Uitgaande van alle kinderen was de DOR niet statistisch significant bij drie van de zeven alarmsignalen. Dit betekent dat we van drie alarmsignalen niet konden aantonen dat ze in staat zijn een onderscheid te maken tussen cases en controles. Bij zes alarmsignalen was de specificiteit 96–100% en de sensitiviteit 0–27%. Bij één alarmsignaal was de sensitiviteit 42% en de specificiteit 85%. Conclusie: Uitgaande van de oorspronkelijke formulering van de kenmerken zijn de alarmsignalen niet geschikt voor het opsporen van voldoende kinderen met ASS. Vervolgonderzoek is nodig om de nieuwe formulering van de alarmsignalen te valideren en na te gaan of andere (combinaties van) kenmerken uit het Van Wiechen-onderzoek wel kunnen bijdragen aan de vroegsignalering van ASS.
... Implementing DSM-5 in ASD detection needs a handful of skilled physicians who may need a prolonged period to annotate the result. Sometimes expert screening of DSM-5 may vary with different physicians [77,106]. The difference in determining the severity level may also create difficulties in annotating the data. ...
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder that limits social interactions, cognitive skills, and abilities. Since ASD can last during an affected person's entire life cycle, the diagnosis at the early onset can yield a significant positive impact. The current medical diagnostic systems (e.g., DSM-5/ICD-10) are somewhat subjective; rely purely on the behavioral observation of symptoms, and hence, some individuals often go misdiagnosed or late-diagnosed. Therefore, researchers have focused on developing data-driven automated diagnosis systems with less screening time, low cost, and improved accuracy while significantly reducing professional intervention. Human Activity Analysis (HAA) is considered one of the most promising niches in computer vision research. This paper aims to analyze its potentialities in the automated detection of autism by tracking the exclusive characteristics of autistic individuals such as repetitive behavior, atypical walking style, and unusual visual saliency. This review provides a detailed inspection of HAA-based autism detection literature published in 2011 on-wards depicting core approaches, challenges, probable solutions, available resources, and scopes of future exploration in this arena. According to our study, deep learning outperforms machine learning in ASD detection with a classification accuracy of 76\% to 95\% on different datasets comprise of video, image, or skeleton data that recorded participants performing a large number of actions. However, machine learning provides satisfactory results on datasets with a small number of action classes and has a range of 60\% to 93\% accuracy among numerous studies. We hope this extensive review will provide a comprehensive guideline for researchers in this field.
... Early detection of ASD is a key factor for successful intervention strategies. Although autistic symptoms develop in most children as early as the first year [6], but in most cases, autism is diagnosed only during pre-school years or thereafter. Even with the advent of early detection of ASD in children [7], there still remains a delay between ASD manifestation and screening-based ASD diagnosis in practice. ...
Autism Spectrum Disorder (ASD) is a neurological developmental disorder affecting children at an early age. ASD diagnosis remains a challenge and is carried out using behavorial and developmental screening currently. Here we show the efficacy of using single trial EEG as a potential neural marker for ASD detection. We used EEG signals of a group of children participating in a visual cognitive task where images of emotional faces and trees were displayed. We used a feature extraction technique based on Topological Data Analysis (TDA) to classify autistic subjects from typically developing ones. The high accuracy (~ 90%) of the pattern classifier validates the efficacy of using topological features in ASD detection. Our results also showed that ASD detection can be achieved as early as 120 ms post stimulus display and is independent of face/non-face images displayed.
... Therefore, additional capacity building strategies have been used to improve autism identification within existing routine systems of developmental surveillance and monitoring, 29 including training for service providers to identify signs, use standardized protocols, and enhance care coordination. [136][137][138] Further research is needed to examine the efficacy of such health systems interventions in lowering the age of diagnosis and increasing access to services, particularly in regard to early intervention programs. ...
... Therefore, additional capacity building strategies have been used to improve autism identification within existing routine systems of developmental surveillance and monitoring, 29 including training for service providers to identify signs, use standardized protocols, and enhance care coordination. [136][137][138] Further research is needed to examine the efficacy of such health systems interventions in lowering the age of diagnosis and increasing access to services, particularly in regard to early intervention programs. ...
Autism spectrum disorder (referred to here as autism) is one of several overlapping neurodevelopmental conditions that have variable impacts on different individuals. This variability results from dynamic interactions between biological and non-biological risk factors, which result in increasing differentiation between individuals over time. Although this differentiation continues well into adulthood, the infancy period is when the brain and behavior develop rapidly, and when the first signs and symptoms of autism emerge. This review discusses advances in our understanding of the causal pathways leading to autism and overlapping neurodevelopmental conditions. Research is also mapping trajectories of brain and behavioral development for some risk groups, namely later born siblings of children with autism and/or infants referred because of developmental concerns. This knowledge has been useful in improving early identification and establishing the feasibility of targeted interventions for infant risk groups before symptoms arise. However, key knowledge gaps remain, such as the discovery of protective factors (biological or environmental) that may mitigate the impact of risk. Also, the dynamic mechanisms that underlie the associations between risk factors and outcomes need further research. These include the processes of resilience, which may explain why some individuals at risk for autism achieve better than expected outcomes. Bridging these knowledge gaps would help to provide tools for early identification and intervention that reflect dynamic developmental pathways from risk to outcomes.
... Third, there is little evidence from clinical trials regarding how ASD screening influences diagnostic timelines and long-term outcomes. One published randomized clinical trial demonstrated younger diagnostic age by implementing the 'Early Screen for Autism in Toddlers' (51), although differences may have reflected collateral effects (e.g., engagement of community physicians) rather than the screen itself (52). The lack of clinical trial evidence was cited by the USPSTF when they found insufficient evidence to 'assess the balance of benefits and harms of screening for ASD in young children for whom no concerns of ASD have been raised by their parents or a clinician' (48). ...
Autism spectrum disorder (ASD) is a life-long neurodevelopmental disorder, characterized by impairments in social communication, repetitive, restricted patterns of behaviour, and unusual sensory sensitivities or interests. ASD significantly impacts the lives of children and their families. Currently, the estimated prevalence of ASD is 1 in 66 Canadians aged 5 to 17 years. General paediatricians, family physicians, and other health care professionals are, therefore, seeing more children with ASD in their practices. The timely diagnosis of ASD, and referral for intensive behavioural and educational interventions at the earliest age possible, may lead to better long-term outcomes by capitalizing on the brain’s neuroplasticity at younger ages. This statement provides clear, comprehensive, evidence-informed recommendations and tools to help community paediatricians and other primary care providers monitor for the earliest signs of ASD—an important step toward an accurate diagnosis and comprehensive needs assessment for intervention planning.
... Malgré des qualités psychométriques moyennes, les études qui se sont intéressées aux effets de programme de dépistage en population générale concluent en l'utilité clinique des outils de dépistage : leur utilisation systématique permet d'augmenter le nombre d'enfants dépistés et de diminuer significativement l'âge de détection (Daniels, Halladay, Shih, Elder, & Dawson, 2014 ;Guevara et al., 2013 ;Miller et al., 2011 ;Oosterling et al., 2010 ;Rotholz, Kinsman, Lacy, & Charles, 2017). À partir d'une simple surveillance du développement global, environ 50 % des cas d'autisme ne sont pas repérés par les professionnels de première ligne (Miller et al., 2011). ...
Early autism screening is important from a public health perspective, as it promotes earlier implementation of effective treatment. Despite their usfulness, front-line professionals make however little use of screening instruments due to implementation challenges. Information and communication technologies enable innovative solutions, tailored to the needs of front-line professionals, through the development of digital screening systems and use of artificial intelligence.
... Malgré des qualités psychométriques moyennes, les études qui se sont intéressées aux effets de programme de dépistage en population générale concluent en l'utilité clinique des outils de dépistage : leur utilisation systématique permet d'augmenter le nombre d'enfants dépistés et de diminuer significativement l'âge de détection (Daniels, Halladay, Shih, Elder, & Dawson, 2014 ;Guevara et al., 2013 ;Miller et al., 2011 ;Oosterling et al., 2010 ;Rotholz, Kinsman, Lacy, & Charles, 2017). À partir d'une simple surveillance du développement global, environ 50 % des cas d'autisme ne sont pas repérés par les professionnels de première ligne (Miller et al., 2011). ...
Le dépistage précoce de l’autisme représente un véritable enjeu de santé publique car il favorise la mise en œuvre rapide d’une intervention adaptée. Malgré leur utilité, les outils de dépistage restent peu utilisés par les professionnels de première ligne en raison notamment de leur faible adéquation aux pratiques. Les technologies de l’information et de la communication permettent de développer des solutions innovantes, adaptées aux besoins des professionnels, grâce à la digitalisation des outils de dépistage et à l’intégration de l’intelligence artificielle à ces dispositifs.
... If there is neither insurance nor public funding for an adequate diagnostic assessment that conveys to families the strengths and deficits of their children, then families may be less likely to advocate for their children. A vicious cycle occurs because physicians may also be less likely to refer families for diagnoses, particularly earlier diagnoses, if they are uncertain what families will "get" from a diagnosis other than bad news (Oosterling et al., 2009;Swinkels et al., 2006). The disparities further reinforce the need to view assessment not as a means to an end (i.e., diagnosis), but as a process through which families learn more about the strengths and needs of their children. ...
https://deepblue.lib.umich.edu/bitstream/2027.42/145390/1/sop200063.pdf
... Adding the CHAT at 24 months to the PREAUT grid at four and nine months increased the sensitivity to 73%. This result confirms that implementing early detection programs, using a two-stage screening approach, could be clinically relevant and lead to earlier detection of ASD [80]. ...
Background
The need for early treatment of autism spectrum disorders (ASD) necessitates early screening. Very few tools have been prospectively tested with infants of less than 12 months of age. The PREAUT grid is based on dyadic assessment through interaction and shared emotion and showed good metrics for predicting ASD in very-high-risk infants with West syndrome.
Methods
We assessed the ability of the PREAUT grid to predict ASD in low-risk individuals by prospectively following and screening 12,179 infants with the PREAUT grid at four (PREAUT-4) and nine (PREAUT-9) months of age. A sample of 4,835 toddlers completed the Checklist for Autism in Toddlers (CHAT) at 24 months (CHAT-24) of age. Children who were positive at one screening (N = 100) were proposed a clinical assessment (including the Children Autism Rating Scale, a Developmental Quotient, and an ICD-10-based clinical diagnosis if appropriate) in the third year of life. A randomly selected sample of 1,100 individuals who were negative at all screenings was followed by the PMI team from three to five years of age to identify prospective false negative cases. The clinical outcome was available for 45% (N = 45) of positive children and 52.6% (N = 579) of negative children.
Results
Of the 100 children who screened positive, 45 received a diagnosis at follow-up. Among those receiving a diagnosis, 22 were healthy, 10 were diagnosed with ASD, seven with intellectual disability (ID), and six had another developmental disorder. Thus, 50% of infants positive at one screening subsequently received a neurodevelopmental diagnosis. The PREAUT grid scores were significantly associated with medium and high ASD risk status on the CHAT at 24 months (odds ratio of 12.1 (95%CI: 3.0–36.8), p < 0.001, at four months and 38.1 (95%CI: 3.65–220.3), p < 0.001, at nine months). Sensitivity (Se), specificity, negative predictive values, and positive predictive values (PPVs) for PREAUT at four or nine months, and CHAT at 24 months, were similar [PREAUT-4: Se = 16.0 to 20.6%, PPV = 25.4 to 26.3%; PREAUT-9: Se = 30.5 to 41.2%, PPV = 20.2 to 36.4%; and CHAT-24: Se = 33.9 to 41.5%, PPV = 27.3 to 25.9%]. The repeated use of the screening instruments increased the Se but not PPV estimates [PREAUT and CHAT combined: Se = 67.9 to 77.7%, PPV = 19.0 to 28.0%].
Conclusions
The PREAUT grid can contribute to very early detection of ASD and its combination with the CHAT may improve the early diagnosis of ASD and other neurodevelopmental disorders.
... Multidisciplinary working among preschool children have been shown to effectively provide optimal support to both client families and care providers including signi icant reduction in waiting times, improved attendance at therapy sessions, despite an increasing case load, through more ef icient utilization of time and resources [35]. It appears to lead to earlier detection of ASD [36]. A multidisciplinary approach to treatment is recommended due to the impact of autism on many aspects of behavior and development [37,38] A comprehensive medical evaluation is essential for identifying the underlying etiology and risk factors for the NDD and may include brain imaging, electroencephalogram (EEG), genetic testing, and/or metabolic testing [39]. ...
Background: Early and effective identifi cation of childhood neurodevelopmental disorders remains a critical task of all pediatric healthcare professionals, which is critical to the well-being of children and their families.
Methods: A retrospective review of medical records of all preschool children referred to a Child Development Centre (CDC) in North-West England, over a six-month period between Sept 2014 and Feb 2015 was conducted. The local multi-professional approach to the clinical assessment and management of preschool children was described and the published literature on this topic was reviewed. Results: Twenty four different categories of professionals spanning the whole range of primary, secondary, and tertiary healthcare, social care and educational services were involved in the management of the patients. The largest group of professionals was the primary healthcare specialists. The ten different primary care professionals managed an average of 42% of the patients. The secondary healthcare providers were involved in the care of an average of 17%, tertiary care providers 10%, educational specialists 25% and social care professionals were involved with 5% of all the patients. The commonest diagnostic disorders were Speech/Language delay (56%), Global developmental delay (33%), Behavior diffi culties (26%), Social communication concerns (21%) and Autistic spectrum disorder (19%). Conclusion: The high number and specialties of various healthcare professionals at all levels of care indicates the high social and economic investment required in managing the affected preschool children in the region. Childhood neurodevelopmental disorders in the preschool age represents a high level of public health significance.
ASD is a mental developmental disorder that significantly impacts the behavioural and communicational abilities of the child. ASD is affecting the world hard, and its global presence continuously increases. One of the reasons for this trend may be a pandemic, which increases screen time for children and decreases communication with peers or family. A lengthy and subjective non-clinical procedure is currently placed for detecting ASD, which is followed by a series of therapy sessions to cure it. This research introduces a novel method for eye gaze analysis to identify autistic traits in children. This proposed work offers
• A novel method of ConvNextBase and LightGBM leveraging eye position as a feature for early detection of autistic traits.
• A new ConvNextBase architecture proposed with few unfreezed layers and extra dense layers with units of 512 and 128, respectively, and dropout layers with a rate of 0.5 that extract rich, high-level, and more complex features from the images to improve generalization and mitigate overfitting.
• A LightGBM model performed classification using 3-fold cross-validation and found the best parameters for bagging_function, feature_fraction, max_depth, Number_of_leaves and learning_rate with values of 0.8, 0.8, −1, 31 and 0.1 respectively, to improve the model's robustness on unseen data.
This proposed method is trained and tested on the publicly available Kaggle dataset, and results are benchmarked with other state-of-the-art methods. The experimentation finding shows that the proposed systems outperform other cutting-edge techniques in accuracy and specificity by 95 % and 98 %, respectively. Furthermore, the model achieved a precision of 93 %, showing that the model effectively reduces false positives and identifies false positives correctly. The classification process yielded 91 % under the AUC-ROC curve, showing the model's strong classification capability.
This study explores Filipina-American mothers' experiences raising children with ASD, focusing on challenges in obtaining timely diagnoses and services. Given healthcare disparities and cultural stereotypes, these mothers often face unique barriers. Using narrative inquiry, this research captures their journeys, from first recognizing symptoms to accessing essential support. Insights aim to improve early ASD detection and resource accessibility, advocating for equitable, culturally responsive autism services for children of color.
Les études récentes sur le développement ont montré l’importance des capacités précoces de communication sociales du nouveau-né humain, et leur caractère fonctionnel dès la naissance. La capacité de participer activement au dialogue social est la principale des nombreuses compétences du bébé qui attendent d’être mises en œuvre au sein des interactions précoces avec les parents. Cependant la mise en jeu au meilleur niveau, et le démarrage subséquent du développement intersubjectif peuvent être gênés par des causes liées aux parents, dépression post natale en particulier, ou liées au bébé, prématurité et ou retard de croissance. Le but de cette étude pilote est de confirmer l’âge de début du premier sourire social, de donner une évaluation du taux de plaisir partagé, à 2 et 3 mois postpartum, à comparer avec ceux de la littérature et de confirmer les corrélations entre Plaisir partagé, retrait relationnel évalué avec l’échelle M-ADBB, et le poids de naissance et l’âge gestationnel, ainsi qu’avec l’évaluation du tempérament du bébé par l’échelle IBQ, dans sa validation en français, et enfin avec le sexe. Un second objectif est de tester la faisabilité en routine de la proposition à faire aux parents de participer à une situation de face à face avec leur bébé, pendant 5 minutes pour chaque parent, enregistrée en vidéo, qui permet de faciliter les échanges positifs en face à face. Cette étude prépare une recherche longitudinale plus large sur le développement intersubjectif et ses troubles, reprenant les prémices de la recherche PREAUT de dépistage précoce de l’autisme, avec la recherche d’algorithmes de cotations du plaisir partagé et du retrait relationnel, dans la perspective de mettre au point des applications permettant aux professionnels de coter en routine des éléments importants du développement intersubjectif premier sourire social, plaisir Partagé, comportement de retrait relationnel du bébé, capacité d’accordage affectif, et prédictivité de ces éléments sur le devenir ultérieur en termes de troubles du neurodéveloppement. Le but final de l’étude étant de montrer les effets préventifs de la guidance interactive développementale précoce, entre 1 et 3 mois, centrée sur l’augmentation du plaisir partagé sur le développement intersubjectif, le développement psychomoteur et le développement cognitif.
Bij (vroeg)herkenning of (vroeg)signalering worden symptomen gezien die kunnen duiden op een ontwikkelingsachterstand of -stoornis bij een (jong) kind. Als ontwikkelingsproblemen zijn gesignaleerd, is van belang dat screening plaatsvindt om te verkennen om welke problemen het gaat, en of nadere actie gewenst is. Het zo vroeg mogelijk herkennen van signalen passend bij autisme maakt vroege interventie mogelijk en dat kan leiden tot betere ontwikkelingskansen voor het kind, verminderde stress bij ouders, het voorkomen van secundaire (gedrags)problemen en mogelijk minder maatschappelijke kosten. In Nederland komen veel kinderen met autisme (te) laat in zorg. Hierbij spelen belemmerende factoren op het niveau van de professional, de ouders, en de organisatie een rol. Ook kan de heterogeniteit in de manifestatie, het beloop en de ernst van autisme het herkennen van vroege signalen bemoeilijken. Aanbevelingen worden gedaan hoe deze belemmeringen te beïnvloeden, waardoor op tijd de juiste zorg geboden kan worden.
Les troubles du spectre de l’autisme (TSA) « naissent » in utero à la suite d’évènements pathologiques génétiques ou environnementaux. Le diagnostic des TSA n’est cependant effectué que vers l’âge de 3-5 ans en Europe et aux États-Unis. Un pronostic précoce permettrait pourtant d’atténuer la sévérité des atteintes cognitives, grâce à des approches psycho-éducatives. Une large panoplie d’approches a été suggérée pour établir un pronostic précoce des TSA, se fondant sur l’imagerie cérébrale, sur des enregistrements EEG, sur des biomarqueurs sanguins ou sur l’analyse des contacts visuels. Nous avons développé une approche fondée sur l’analyse par machine learning des données biologiques et échographiques recueillies en routine, du début de la grossesse au lendemain de la naissance, dans les maternités françaises. Ce programme qui permet d’identifier la presque totalité des bébés neurotypiques et la moitié des bébés qui auront un diagnostic de TSA quelques années plus tard, permet aussi d’identifier les paramètres ayant un impact sur le pronostic. Si quelques-uns d’entre eux étaient attendus, d’autres n’ont aucun lien avec les TSA. L’étude sans a priori des données de maternité devrait ainsi permettre un pronostic des TSA dès la naissance, ainsi que de mieux comprendre la pathogenèse de ces syndromes et de les traiter plus tôt.
Due to the heterogeneity of ASD population, many difficulties emerge when it comes to diagnosis of the disorder and even more difficulties regarding early detection. Specifically, early detection enables diagnosis to be made before the span of 24-30 months, the age where the official diagnosis is usually made. As it is known, earlier diagnosis is very crucial as children with ASD can benefit more from programs of early intervention. Taking all these into account, a brief review of the most popular approaches for early detection of ASD would be elaborated in order to raise awareness to health care professionals, clinicians, and parents. Moreover, in this chapter, the pros and the cons of each approach would be elaborated, and in the final part, some recommendations would be made concerning the process of early detection.
Early identification of autism, followed by appropriate intervention, has the potential to improve outcomes for autistic individuals. Numerous screening instruments have been developed for children under 3 years of age. Level 1 screeners are used in large-scale screening to detect at-risk children in the general population; Level 2 screeners are concerned with distinguishing children with signs of autism from those with other developmental problems. The focus here is evaluation of Level 2 screeners. However, given the contributions of Level 1 screeners and the necessity to understand how they might interface with Level 2 screeners, we briefly review Level 1 screeners and consider instrument characteristics and system variables that may constrain their effectiveness. The examination of Level 2 screeners focuses on five instruments associated with published evaluations in peer-reviewed journals. Key criteria encompass the traditional indices of test integrity such as test reliability (inter-rater, test-retest) and construct validity, including concurrent and predictive validity, sensitivity (SE), and specificity (SP). These evaluations reveal limitations, including inadequate sample sizes, reliability issues, and limited involvement of independent researchers. Also lacking are comparative test evaluations under standardized conditions, hindering interpretation of differences in discriminative performance across instruments. Practical considerations constraining the use of such instruments—such as the requirements for training in test administration and test administration time—are canvassed. Published Level 2 screener short forms are reviewed and, as a consequence of that evaluation, future directions for assessing the discriminative capacity of items and measures are suggested. Suggested priorities for future research include targeting large and diverse samples to permit robust appraisals of Level 2 items and scales across the 12–36 month age range, a greater focus on precise operationalization of items and response coding to enhance reliability, ongoing exploration of potentially discriminating items at the younger end of the targeted age range, and trying to unravel the complexities of developmental trajectories in autistic infants. Finally, we emphasize the importance of understanding how screening efficacy is dependent on clinicians' and researchers' ability not only to develop screening tests but also to negotiate the complex organizational systems within which screening procedures must be implemented.
Objective is cross-culturally validating the Rapid Interactive Screening Test for Autism in Toddlers (RITA-T). Validity, specificity, sensitivity and cut off score were established in typically developing/at-risk, Autism Spectrum Disorders (ASD) negative/at-risk and ASD positive Lebanese toddlers aged 18-36 months. RITA-T/Modified Checklist for Autism in Toddlers-Revised (M-CHAT-R) tests preceded diagnosis by clinical evaluation, Autism Diagnostic Observation Schedule/Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) criteria. RITA-T demonstrates good internal consistency/test-retest reliability. Scores for RITA-T /M-CHAT-R were higher in at-risk-ASD vs. typically developing/at-risk non-ASD toddlers. Significant correlations between RITA-T and ADOS-2 scores suggested convergent validity. Receiver operating curve analysis identified 15 as cutoff for ASD (sensitivity=96%/specificity=100%) with positive/negative predictive values of 100% and 96%, respectively. The RITA-T is effective in screening ASD in Lebanese toddlers.
Within the context of typical development, it is not unusual for a child to show a slight delay in reaching a developmental milestone. Healthcare providers and parents may adopt a wait-and-see approach for some delays with little consequence to the child’s outcome. In the case of early signs of autism spectrum disorder (ASD) that often manifest as developmental delays, however, acting early to evaluate the child’s development and provide early intervention is key to better outcomes. Early identification is defined as having a comprehensive developmental evaluation of possible ASD symptoms no later than age 3, but a growing body of research has shown identification can be accurate and stable at younger ages. Navigating the differences between minor delays and signs of ASD is best conducted by combining forces between parents and health or other early childhood care providers using both ASD screening and developmental surveillance. This chapter outlines guidelines and resources for both screening and surveillance from professional organizations, ASD researchers, and healthcare agencies.
The American Academy of Pediatrics recommends using an autism-specific screening tool for all young children at primary care well visits. Screening can detect risk of autism spectrum disorder (ASD) in young children whose parents and pediatrician may not otherwise have developmental concerns. The identification of children with or at-risk for ASD increases their access to early intervention services, which helps ameliorate skill deficits associated with ASD. Recent studies indicate pediatricians use autism-specific screening and diagnostic tools infrequently. Some research has been conducted to determine whether providing training to primary care providers increases screening practices; however, evidence-based practices for training pediatricians to conduct ASD screenings or use other ASD identification tools have not been identified. We conducted a review of the research on training primary care providers (e.g., pediatricians) on the use of ASD identification tools with young children and their families. The results of this review point to a lack of high-quality research in this area. The information can be used to advance research, policy, and practice.
This chapter provides an overview of the complex experience of parenting children with Autism Spectrum Disorders (ASDs) from an attachment-based perspective. The role of parental sensitivity, intrusiveness, and self-efficacy will be discussed in detail. These parental characteristics were indeed found to positively affect the parent-ASD-child bond and, in turn, to modulate the developmental course of ASDs. Likewise, the nature of symptomatology pertaining to autism (i.e., strong impairment in social and communication skills) represents an obstacle for parents to effectively attune to their children's needs or emotions. A number of interventions aimed at improving the quality and the attunement level in the parent-ASD-child dyad are presented. A specific focus is dedicated to attachment-based interventions such as the video feedback intervention to promote positive parenting – AUTI (VIPP-AUTI).
Résumé
Le trouble du spectre de l’autisme (TSA) est un trouble neurodéveloppemental permanent qui se caractérise par des déficits de la communication sociale, un mode répétitif et restreint des comportements et des sensibilités ou des intérêts sensoriels inhabituels. Le TSA a des répercussions importantes sur la vie des enfants et de leur famille. À l’heure actuelle, sa prévalence estimative est de un cas sur 66 enfants et adolescents canadiens dans le groupe d’âge des cinq à 17 ans. Les pédiatres généraux, les médecins de famille et les autres professionnels de la santé rencontrent donc plus d’enfants ayant un TSA qu’auparavant dans leur pratique. Le diagnostic rapide de ce trouble et l’orientation des cas vers des interventions comportementales et éducationnelles intensives dès le plus jeune âge peuvent favoriser un meilleur pronostic clinique à long terme grâce à la neuroplasticité du cerveau à un plus jeune âge. Le présent docu-ment de principes contient des recommandations et des outils clairs, détaillés et fondés sur des données probantes pour aider les pédiatres communautaires et les autres dispensateurs de soins de première ligne à surveiller les tout premiers signes de TSA, ce qui constitue une étape importante vers un diagnostic précis et une évaluation détaillée des besoins pour planifier les interventions.
An early detection of autism opens the opportunity of better early interventions and prevents many unnecessary sorrow and frustrations in the parents. Recently a network of early detection and intervention teams has been founded in the Netherlands. Any parent worrying about the “different” way in which their child develops can ask for assessment and help. The major innovation is that the parents are in charge of the (medical) chart of their child. A multidisciplinary team nearby provides the help and ensures that parents can ask for consultation and second opinion from specialists all over the country. Thus well informed they can tailor intervention and support that meets their needs and expectations. All available modern techniques can be applied: electronic file, Internet forums, modular, real time home visits or by video, a possibility to communicate with the whole team 24/7 through secured email connections.
Background
Although autism spectrum disorders (ASD) have been associated with developmental outcomes and parenting stress, it is not known how all variables interact with each other. We estimated prospective associations between ASD screening scores at 24 months and socio-emotional-cognitive development at 36 months while considering parenting stress as a potential moderator of the outcome.
Methods
Using the Conditions Affecting Neurocognitive Development and Learning in Early Childhood data, ASD-risk behaviors at 24 months and child maturity levels in social, emotional, and cognitive domains at 36 months were reported (N = 1100).
Results
The number of ASD-type behaviors at 24 months was significantly associated with the socio-emotional-cognitive risk index at 36 months (B = .31, p < .01, 95% CI = .24–.38), mother-reported parenting stress at 24 months (B = .77, p < .01, 95% CI = .50–1.03), and maternal education (B = 0.67; p < .01; 95% CI = .39–.96). Further investigation revealed that children who had higher ASD screening scores and more distressed mothers experienced higher socio-emotional-cognitive risk than their counterparts who had either risk factor or none (p < .01).
Conclusions
ASD screening scores and parenting stress interact together to have an effect on later child developmental competence. This study suggests that interventions towards early ASD symptoms and parenting stress could enhance subsequent child developmental competence, which is a strong building block for early school readiness and personal success.
Background
The high heterogeneity of autism spectrum disorders (ASD) across multiple domains complicates research and clinical work.
Objective
To model more homogeneous subgroups within ASD based on early progress of core symptoms and further characterize these subgroups in terms of progression of language, cognition, co-occurring (ADHD-related) traits and clinical outcome diagnosis.
Methods
Children (n = 203) referred for possible ASD at age 1–4 years were assessed at three points in time at intervals ranging from 9 months to 3 years. Assessments included standardized measures for ASD (ADOS), language (ADOS language item), non-verbal IQ (NV-IQ; various tests appropriate for the chronological/mental age) and parent-reported behavioural problems (ITSEA, CBCL).
Results
Latent-class growth curve analysis with ADOS overall scores led to identification of three main stable and two small improving groups.
Conclusions
Results support the high stability of ASD symptoms, but also highlight a significant role for non-ASD domains in defining and explaining the various ASD progression paths.
Autism spectrum disorder (ASD) has a variety of causes, and its clinical expression is generally associated with substantial disability throughout the lifespan. Recent advances have led to earlier diagnosis, and deep phenotyping efforts focused on high risk infants have helped advance the characterization of early behavioral trajectories. Moreover, biomarkers that measure early structural and functional connectivity, visual orienting, and other biological processes have shown promise in detecting the risk of autism spectrum disorder even before the emergence of overt behavioral symptoms. Despite these advances, the mean age of diagnosis is still 4-5 years. Because of the broad consistency in published guidelines, parameters for high quality comprehensive assessments are available; however, such models are resource intensive and high demand can result in greatly increased waiting times. This review describes advances in detecting early behavioral and biological markers, current options and controversies in screening for the disorder, and best practice in its diagnostic evaluation including emerging data on innovative service models.
Objective Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder that increases in its degree of prevalence on a day-to-day basis . Due to the many problems that the disorder brings to the table for children, families, and society as a whole, its early screening, early diagnosis, and preparing early intervention for this group of children is of extreme relevance. Although many countries have put to use tools designed to screen ASD, Iran has not standardized any tool for this important job. One of the most reliable tools in recent years designed to screen traits of ASD in toddlers is the Early Screening for Autistic Traits (ESAT). Therefore, the aim of the present study is to investigate the validity and reliability of the ESAT-Persian Version (ESAT-PV) among toddlers.
Materials & Methods This research is a cross-sectional study that was conducted in order to standardize and validate the Persian version of ESAT. The population of the research included all children with ASD in the city of Isfahan. The sample included 72 toddlers selected using the convenience sampling method. After investigating and calculating the Content Validity Ratio (CVR) and Content Validity Index (CVI), like the developers of the main version of the questionnaire did, the mothers participating in the study were asked to answer ESAT-PV questions based on the characteristics of their own children at the age of 14 months. The construct validity was convergent and it was with the Modified Checklist for Autism in Toddlers (M-CHAT) and the Childhood Autism Rating Scale (CARS) and using the Spearman correlation coefficient . Criterion validity was tested by way of comparison of children with and without ASD. To determine the internal consistency of the scale, Cronbach's alpha coefficient was used, and to determine its test-retest reliability, the Intraclass Correlation Coefficient (ICC) was employed. The data were analyzed using SPSS-22.
Results The maximum and minimum of CVER were estimated to be 1 and 0.8, respectively, and CVI was 0.91. The correlation coefficient of Modified Checklist for Autism in Toddlers (M-CHAT) and ESAT-PV was 0.56 and that of Childhood Autism Rating Scale (CARS) and ESAT-PV was 0.61. In addition, there was a significant difference between the mean scores of ESAT-PV in the two groups of children with or without ASD (t=54.17 P=0.001). Cronbach's α coefficient was in the range of 0.73 to 0.77 for questions, and Cronbach's coefficient α for the total scale was 0.76. Intraclass Correlation Coefficient (ICC) was in the range of 0.93 to 0.77 for questions, and ICC for the total scale was 0.92.
Conclusion The results of the present study indicate that the ESAT-PV enjoys acceptable validity and reliability and can be applied as a clinical and research instrument for screening autism in toddlers. These results are important because through the investigating and approval psychometric properties of ESAT-PV, operation the concepts of early screening . Thereafter, interested researchers could use ESAT-PV in different groups for identification and screening of ADD . In addition, recommend to rehabilitation experts, psychologists and psychiatrists, with early screening characteristics of autism spectrum disorders in toddlers and acting for the development, implementation and evaluation of the results of early educational and rehabilitation interventions, and thus, be useful in reducing the cost of family and community.
The Social Communication Questionnaire (SCQ) and the Social Responsiveness Scales (SRS) are commonly used screeners for autism spectrum disorder (ASD). Data from the Study to Explore Early Development were used to examine variations in the performance of these instruments by child characteristics and family demographics. For both instruments, specificity decreased as maternal education and family income decreased. Specificity was decreased with lower developmental functioning and higher behavior problems. This suggests that the false positive rates of the SRS and the SCQ are associated with child characteristics and family demographic factors. There is a need for ASD screeners that perform well across socioeconomic and child characteristics. Clinicians should be mindful of differential performance of these instruments in various groups of children.
The Autism Diagnostic Observation Schedule—Generic (ADOS-G) is a semistructured, standardized assessment of social interaction, communication, play, and imaginative use of materials for individuals suspected of having autism spectrum disorders. The observational schedule consists of four 30-minute modules, each designed to be administered to different individuals according to their level of expressive language. Psychometric data are presented for 223 children and adults with Autistic Disorder (autism), Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) or nonspectrum diagnoses. Within each module, diagnostic groups were equivalent on expressive language level. Results indicate substantial interrater and test—retest reliability for individual items, excellent interrater reliability within domains and excellent internal consistency. Comparisons of means indicated consistent differentiation of autism and PDDNOS from nonspectrum individuals, with some, but less consistent, differentiation of autism from PDDNOS. A priori operationalization of DSM-IV/ICD-10 criteria, factor analyses, and ROC curves were used to generate diagnostic algorithms with thresholds set for autism and broader autism spectrum/PDD. Algorithm sensitivities and specificities for autism and PDDNOS relative to nonspectrum disorders were excellent, with moderate differentiation of autism from PDDNOS.
The Child Neurology Society and American Academy of Neurology recently proposed to formulate Practice Parameters for the Diagnosis and Evaluation of Autism for their memberships. This endeavor was expanded to include representatives from nine professional organizations and four parent organizations, with liaisons from the National Institutes of Health. This document was written by this multidisciplinary Consensus Panel after systematic analysis of over 2,500 relevant scientific articles in the literature. The Panel concluded that appropriate diagnosis of autism requires a dual-level approach: (a) routine developmental surveillance, and (b) diagnosis and evaluation of autism. Specific detailed recommendations for each level have been established in this document, which are intended to improve the rate of early suspicion and diagnosis of, and therefore early intervention for, autism.
Several instruments have been developed to screen for autism spectrum disorders (ASD) in high-risk populations. However, few studies compare different instruments in one sample. Data were gathered from the Early Screening of Autistic Traits Questionnaire, Social Communication Questionnaire, Communication and Symbolic Behavior Scales-Developmental Profile, Infant-Toddler Checklist and key items of the Checklist for Autism in Toddlers in 238 children (mean age = 29.6 months, SD = 6.4) at risk for ASD. Discriminative properties are compared in the whole sample and in two age groups separately (8-24 months and 25-44 months). No instrument or individual item shows satisfying power in discriminating ASD from non-ASD, but pros and cons of instruments and items are discussed and directions for future research are proposed.
Autism is currently detected only at about three years of age. This study aimed to establish if detection of autism was possible at 18 months of age. We screened 41 18-month-old toddlers who were at high genetic risk for developing autism, and 50 randomly selected 18-month-olds, using a new instrument, the CHAT, administered by GPs or health visitors. More than 80% of the randomly selected 18-month-old toddlers passed on all items, and none failed on more than one of pretend play, protodeclarative pointing, joint-attention, social interest, and social play. Four children in the high-risk group failed on two or more of these five key types of behaviour. At follow-up at 30 months of age, the 87 children who had passed four or more of these key types of behaviour at 18 months of age had continued to develop normally. The four toddlers who had failed on two or more of these key types of behaviour at 18 months received a diagnosis of autism by 30 months.
The Child Neurology Society and American Academy of Neurology recently proposed to formulate Practice Parameters for the Diagnosis and Evaluation of Autism for their memberships. This endeavor was expanded to include representatives from nine professional organizations and four parent organizations, with liaisons from the National Institutes of Health. This document was written by this multidisciplinary Consensus Panel after systematic analysis of over 2,500 relevant scientific articles in the literature. The Panel concluded that appropriate diagnosis of autism requires a dual-level approach: (a) routine developmental surveillance, and (b) diagnosis and evaluation of autism. Specific detailed recommendations for each level have been established in this document, which are intended to improve the rate of early suspicion and diagnosis of, and therefore early intervention for, autism.
Through the use of 2-stage screening strategies, research studies have shown that autism spectrum disorders and other developmental disabilities can now be detected reliably and with greater validity and in children as young as 18 months of age. Screening and diagnostic practices in the medical and educational arena lag far behind clinical research, however, with the average patient age at time of diagnosis being 3 to 6 years.
We discuss the challenges of instituting universal developmental screening as part of pediatric care and present 2 models of existing or planned programs of early screening for autism spectrum disorder and developmental disability (1 in a community-based setting and 1 in a pediatric setting), and discuss the pros and cons of the different strategies.
This review examines the evidence for screening for autism spectrum disorders in the general population and the information needed to inform screening policy. The UK National Screening Committee criteria are taken as the framework. These criteria cover the condition, the screening test, the treatment and the screening programme as a whole. With respect to the condition, reasons for variation in prevalence estimates for autism spectrum disorders need to be resolved and there are few longitudinal studies to describe the natural history of autism spectrum disorders that include data on children identified at an early age. There is no screening test suitable for use in a population setting that has been fully validated. There is insufficient evidence regarding the effectiveness of interventions. This review supports the current policy position of the National Screening Committee, that on the basis of existing evidence, screening for autism spectrum disorders cannot be recommended.
This article describes the development of a screening instrument for young children. Screening items were tested first in a non-selected population of children aged 8-20 months (n = 478). Then, parents of children with clinically diagnosed ASD (n = 153, average age 87 months) or ADHD (n = 76, average age 112 months) were asked to score the items retrospectively for when their child was 14 months old. A 14-item screening instrument, Early Screening of Autistic Traits (ESAT) which had maximal sensitivity and specificity for ASD was developed. The sensitivity of the ESAT was checked in an independent sample of 34 children aged 16-48 months clinically diagnosed with ASD. A 4-item version appears to be a promising prescreening instrument.
A two-stage protocol for screening for autistic spectrum disorders (ASD) was evaluated in a random population of 31,724 children aged 14-15 months. Children were first pre-screened by physicians at well-baby clinics using a 4-item screening instrument. Infants that screened positive were then evaluated during a 1.5-h home visit by a trained psychologist using a recently developed screening instrument, the 14-item Early Screening of Autistic Traits Questionnaire (ESAT). Children with 3 or more negative scores were considered to be at high-risk of developing ASD and were invited for further systematic psychiatric examination. Eighteen children with ASD were identified. The group of children with false positive results had related disorders, such as Language Disorder (N = 18) and Mental Retardation (N = 13).
Recent reports have suggested that the prevalence of autism and related spectrum disorders (ASDs) is substantially higher than previously recognised. We sought to quantify prevalence of ASDs in children in South Thames, UK.
Within a total population cohort of 56 946 children aged 9-10 years, we screened all those with a current clinical diagnosis of ASD (n=255) or those judged to be at risk for being an undetected case (n=1515). A stratified subsample (n=255) received a comprehensive diagnostic assessment, including standardised clinical observation, and parent interview assessments of autistic symptoms, language, and intelligence quotient (IQ). Clinical consensus diagnoses of childhood autism and other ASDs were derived. We used a sample weighting procedure to estimate prevalence.
The prevalence of childhood autism was 38.9 per 10,000 (95% CI 29.9-47.8) and that of other ASDs was 77.2 per 10,000 (52.1-102.3), making the total prevalence of all ASDs 116.1 per 10,000 (90.4-141.8). A narrower definition of childhood autism, which combined clinical consensus with instrument criteria for past and current presentation, provided a prevalence of 24.8 per 10,000 (17.6-32.0). The rate of previous local identification was lowest for children of less educated parents.
Prevalence of autism and related ASDs is substantially greater than previously recognised. Whether the increase is due to better ascertainment, broadening diagnostic criteria, or increased incidence is unclear. Services in health, education, and social care will need to recognise the needs of children with some form of ASD, who constitute 1% of the child population.
Detecting early signs of autism is essential for timely diagnosis and initiation of effective interventions. Several research groups have initiated prospective studies of high-risk populations including infant siblings, to systematically collect data on early signs within a longitudinal design. Despite the potential advantages of prospective studies of young children at high-risk for autism, there are also significant methodological, ethical and practical challenges. This paper outlines several of these challenges, including those related to sampling (e.g., defining appropriate comparison groups), measurement and clinical implications (e.g., addressing the needs of infants suspected of having early signs). We suggest possible design and implementation strategies to address these various challenges, based on current research efforts in the field and previous studies involving high-risk populations.
Autism spectrum disorders are not rare; many primary care pediatricians care for several children with autism spectrum disorders. Pediatricians play an important role in early recognition of autism spectrum disorders, because they usually are the first point of contact for parents. Parents are now much more aware of the early signs of autism spectrum disorders because of frequent coverage in the media; if their child demonstrates any of the published signs, they will most likely raise their concerns to their child's pediatrician. It is important that pediatricians be able to recognize the signs and symptoms of autism spectrum disorders and have a strategy for assessing them systematically. Pediatricians also must be aware of local resources that can assist in making a definitive diagnosis of, and in managing, autism spectrum disorders. The pediatrician must be familiar with developmental, educational, and community resources as well as medical subspecialty clinics. This clinical report is 1 of 2 documents that replace the original American Academy of Pediatrics policy statement and technical report published in 2001. This report addresses background information, including definition, history, epidemiology, diagnostic criteria, early signs, neuropathologic aspects, and etiologic possibilities in autism spectrum disorders. In addition, this report provides an algorithm to help the pediatrician develop a strategy for early identification of children with autism spectrum disorders. The accompanying clinical report addresses the management of children with autism spectrum disorders and follows this report on page 1162 [available at www.pediatrics.org/cgi/content/full/120/5/1162]. Both clinical reports are complemented by the toolkit titled "Autism: Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians," which contains screening and surveillance tools, practical forms, tables, and parent handouts to assist the pediatrician in the identification, evaluation, and management of autism spectrum disorders in children.
The Psychoeducational Profile (PEP) offers a developmental approach to the assessment of autistic and psychotic children as well as children with related learning disabilities. Scores obtained are used in the planning of individualized special educational programs for these children. Most appropriately used with children functioning at a preschool age level within the chronological age range of 1 to 12 years, the PEP provides information on developmental functioning in the areas of imitation, perception, motor, eye-hand integration, cognitive performance, and cognitive verbal skills. As a diagnostic tool, the PEP identifies the degrees of behavioral pathology or psychosis in the areas of affect, relating, cooperating and human interest, play, and interest in materials, sensory modes, and language. The PEP consists of a set of toys and play activities presented to a child by an examiner who also observes, evaluates, and records the child's responses. The child's scores are distributed among seven function scales, thus yielding a profile depicting relative strengths and weaknesses in different areas of development and behavioral pathology. This publication provides information on the function areas, general testing considerations, administration, scoring, the manual, interpretation of scores and profiles, normal comparison sample, construction of the function score form, reliability, and validity. Appendices contain the test items, materials for the PEP, photographs of the materials, a function score form, and scoring keys. (RC)
As part of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) revision process, the need for changes in the DSM-III—Revised (DSM-III—R) definition of autism was addressed. Official definitions of the disorder have been the source of much controversy. Discussion focuses on diagnostic criteria of autism before DSM-IV, issues for resolution, the effects of data reanalyses, and the design of a field trial for DSM-IV that might identify potential gaps or excessive duplication of criteria. (PsycINFO Database Record (c) 2012 APA, all rights reserved)
Autism and autism spectrum disorder (ASD) are a group of severe developmental disorders that are characterized by 3 core sets of developmental abnormalities: impairment of social interaction, verbal and nonverbal communication, and restricted, repetitive patterns of behavior. The disorder is far more common than previously thought. There is no cure for autism but it is apparent that early detection followed by early intervention is likely to provide the best chance of long-term beneficial outcome in this condition. Unfortunately, until recently, there had been no validated method of comprehensive early detection of ASD, nor a tool with adequate sensitivity and specificity to be recommended for universal screening of preschool children with ASD. We describe a model of comprehensive early detection and diagnosis of ASD that is achieved by using the resources of primary care workers and a multidisciplinary team with skill and experience in assessing developmental problems in young children and specific expertise in ASD. Both early detection and diagnosis may be carried out by this team in collaboration with parents and primary care professionals and can result in high rates of detection and diagnosis of ASD.
Major difficulties arise when introducing evidence and clinical guidelines into routine daily practice. Data show that many patients do not receive appropriate care, or receive unnecessary or harmful care. Many approaches claim to offer solutions to this problem; which ones are as yet the most effective and efficient is unclear. We aim to provide an overview of present knowledge about initiatives to changing medical practice. Substantial evidence suggests that to change behaviour is possible, but this change generally requires comprehensive approaches at different levels (doctor, team practice, hospital, wider environment), tailored to specific settings and target groups. Plans for change should be based on characteristics of the evidence or guideline itself and barriers and facilitators to change. In general, evidence shows that none of the approaches for transferring evidence to practice is superior to all changes in all situations.
As part of a wider survey of parents of children with autistic spectrum disorders in the UK, the diagnostic experiences of 614 parents of children with autism and 156 with Asperger syndrome were compared. Although the ages of the children in the two groups were very similar at the time of the survey, parents of children given a diagnosis of Asperger syndrome had experienced significantly longer delays and greater frustration in obtaining a diagnosis than those with a child with autism. In the 'autism group' the average age when diagnosis was confirmed was around 5.5 years; in the 'Asperger group' it was 11 years. Parents of children with a diagnosis of autism were generally aware of problems in their child's development by 18 months of age; in the Asperger group concerns emerged later, at around 30 months of age. Initial worries in both groups centred around abnormal social development but parents of children with Asperger syndrome were less likely to have noted communication problems. Stereotyped or repetitive behaviours were not prominent in the early years in either group. Despite the problems inherent in data collected by postal survey, many of the findings of this study are supported by other research. The practical implications of delayed diagnosis, especially in the case of more able children with Asperger syndrome are discussed.
As part of a wider survey of parents of children with autistic spectrum disorders in the UK, the diagnostic experiences of 614 parents of children with autism and 156 with Asperger syndrome were compared. Although the ages of the children in the two groups were very similar at the time of the survey, parents of children given a diagnosis of Asperger syndrome had experienced significantly longer delays and greater frustration in obtaining a diagnosis than those with a child with autism. In the‘autism group’the average age when diagnosis was confirmed was around 5.5 years; in the‘Asperger group’it was 11 years. Parents of children with a diagnosis of autism were generally aware of problems in their child's development by 18 months of age; in the Asperger group concerns emerged later, at around 30 months of age. Initial worries in both groups centred around abnormal social development but parents of children with Asperger syndrome were less likely to have noted communication problems. Stereotyped or repetitive behaviours were not prominent in the early years in either group. Despite the problems inherent in data collected by postal survey, many of the findings of this study are supported by other research. The practical implications of delayed diagnosis, especially in the case of more able children with Asperger syndrome are discussed.
To examine the prevalence of parents' compliance with follow-up measurements after their child tested positive at a screening to assess problems in social development, as well as to find demographic, screening-related, and child-specific factors associated with parental compliance.
Two-stage screening design.
Utrecht, the Netherlands.
A random population of 31,724 children were screened at well-baby clinics at age 14 to 15 months (screen 1). Three hundred sixty-four children underwent screen 2 (255 children who scored positive at screen 1 [population screening] and 109 children younger than 36 months who were identified by surveillance because of suspected problems in their social development). Main Exposure A 2-stage screening was applied.
Compliance with recommendations of having either a second screening (after screen 1) or clinical evaluation (after screen 2).
Of 370 children who tested positive at screen 1, parents of 255 children (69%) complied with screen 2. Three groups were distinguished after screen 2 (n = 173): early compliance (clinical evaluation within 6 months) (68%), late compliance (clinical evaluation after 6 months) (14%), and noncompliance (no clinical evaluation) (18%). Late compliance and noncompliance were more common in parents of younger children and children who were identified via population screening. Parents of children with either relatively high cognitive skills and/or low scores on screening measures were less inclined to comply.
Study results suggest higher effectiveness of surveillance over population screening. Screening may well be applied as a second step after surveillance to identify children who need further clinical evaluation.
In the last decade, the “cost effectiveness” of early educational intervention has become a familiar argument for the expansion of such services to young children who are handicapped or living in poverty. Indeed, the claim is often broadened to support public provision of universal early childhood programs. At least two reasons are apparent for the popularity of the cost-effectiveness argument: (a) the commonsense appeal of early intervention as an investment in the future, and (b) the positive public response to programs that work and are fiscally responsible. One major purpose of this paper is to provide the information needed to evaluate the cost-effectiveness arguments for early educational intervention. The other major purpose is to introduce psychologists to the methods of cost-effectiveness research so that they may be better equipped to evaluate, and participate in, cost-effectiveness studies. Thus, the core of this paper is a critical review of empirical research on the cost effectiveness of early educational intervention which serves both purposes. A context is provided for the review by the first two sections of the paper which discuss the broader empirical literature on early educational intervention and define economic concepts. In a final section, we offer our conclusions regarding interpretation of the research and recommendations for further research.
Describes the Autism Diagnostic Interview-Revised (ADI-R), a revision of the Autism Diagnostic Interview, a semistructured, investigator-based interview for caregivers of children and adults for whom autism or pervasive developmental disorders is a possible diagnosis. The revised interview has been reorganized, shortened, modified to be appropriate for children with mental ages from about 18 months into adulthood and linked to ICD-10 and DSM-IV criteria. Psychometric data are presented for a sample of preschool children.
Progress has recently been made in the earlier identification of children with autism spectrum disorder (ASD). Whilst being welcome, this progress to earlier referral and diagnosis presents new challenges to clinical practice, including the accuracy and stability of early diagnosis, the utility of standardised assessment instruments with young pre-schoolers and the ability to indicate prognosis.
A selective review of recent research literature on the characteristic features of ASD in preschool children.
Multidisciplinary diagnostic assessment should include detailed information on developmental history, parents' descriptions of the everyday behaviour and activities of the child, direct assessment of the child's social interaction style, including where possible with age peers, and formal assessment of communicative, intellectual and adaptive function. Clinical assessments need to concentrate on the identification of impairments in early non-verbal social communication behaviours that characterise children with ASD from the second year of life, including social orienting, joint attention, imitation, play and reciprocal affective behaviour. The particular pattern of symptoms that presents in a 2-year-old with ASD may differ from that seen at the more prototypic age of 4 or 5 years. In particular, overt repetitive and stereotyped behaviours may be less notable, although where these are seen alongside the social and communicative impairments they are highly indicative of ASD. The use of standardised assessment instruments and the strict application of the DSM and ICD diagnostic criteria need to be employed with caution, as an expert clinical view has been shown to be more accurate. An important aspect of early diagnostic consultation is an open and straightforward approach to the negotiation of the diagnostic view with parents over time.
Earlier diagnosis and rising recognition of ASD have significant implications for primary healthcare and specialist diagnostic and therapeutic services.
Although initially described as an inborn disorder of affective contact, information on autism as it exists in infants has been limited. Delays in diagnosis, lack of information about the condition, and reliance on retrospective research strategies have been problematic. An awareness of the increased risk for siblings is now allowing the development of new, prospective approaches. Consistent with Kanner's original hypothesis, the available information strongly suggests a fundamental difficulty in the earliest social processes, which, in turn, impacts many other areas of development. New approaches to screening have lowered the age of initial diagnosis; this presents new challenges for early intervention. Directions for future research are highlighted.
The current study extends research by Stone [Cross-disciplinary perspectives on autism? Journal of Pediatric Psychology, 12, (1988) 615; A comparison of teacher and parent views of autism. Journal of Autism and Development Disorders, 18, (1988) 403] exploring the knowledge and beliefs about autism across multiple health care professions. One hundred and eleven CARD personnel (i.e., professional with the Center for Autism Related Disabilities, CARD), specialists (i.e., psychiatry, speech and language pathology, and clinical psychology), and primary health care providers (i.e., family practice, pediatrics, and neurology) completed a measure assessing knowledge of diagnostic criteria, course, treatment, and prognosis of autism. Results indicated that all three groups reflected accurate endorsement of the DSM-IV criteria. Primary health care providers and specialists were found to differentially endorse a variety of statements regarding prognosis, course, and treatment in comparison with CARD. Overall, primary providers demonstrated the greatest number of differences. Clinical implications and future recommendations are discussed.
Within a strong interdisciplinary framework, improvement in the quality of care for children with autistic spectrum disorders through a 2 year implementation program of Practice Parameters, aimed principally at improving early detection and intervention.
We developed Practice Parameters (PPs) for Pervasive Developmental Disorders and circulated the PPs to all child and adolescent psychiatrists practicing in the region.
PP development and parallel information strategies resulted in a significant decrease of 1.5 years in the mean-age-at-diagnosis. However, further analysis indicated that improvement was only transient.
Despite the encouraging improvement in mean-age-at-diagnosis 2 years after PP implementation, other indicators showed a failure to maintain the improvements. A systematic screening program would be the most reliable method to reinforce the PPs.
It is unclear to what extent general developmental/behavioral assessments are performed, if screening for autism spectrum disorders (ASDs) is being conducted, and what the barriers to providing such assessments are in routine pediatric practice. Therefore, this study examines (1) the factors influencing the use of general developmental and autism-specific screening tools in primary care pediatric practice, (2) the barriers to providing these assessments, and (3) pediatricians' beliefs regarding ASD prevalence. A cross-sectional survey was mailed in June 2004 to a 60% (n = 1119) random sample of Maryland and Delaware licensed pediatricians. In August 2004, a second mailing was sent to non-respondents. A total of 471 (42%) of the surveys were returned, and of those, 255 (54%) who practiced in general primary care were eligible. The sample was 47% male, 69% had more than 14 years' experience, 71% were in private practices, and 56% had fewer than 10 ASD patients. Most (82%) routinely screened for general developmental delays, but only 8% screened for ASD. The main reasons reported for not screening for ASD were lack of familiarity with tools (62%), referred to a specialist (47%), or not enough time (32%). Most specialist referrals (77%) were to a developmental pediatrician. Most pediatricians (71%) believed that ASD prevalence has increased, and nearly all attributed this to changes in diagnostic criteria and treatment. Service system limitations must be overcome to increase awareness and familiarity with screening tools, provide sufficient time and resources, improve screening, and enhance provider education.
A screening, training, and education program Ontwikkelingsonderzoek in de jeugdgezondheidszorg
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The Authors Journal compilation Ó 2009 Association for Child and Adolescent Mental Health
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Ontwikkelingsonderzoek in de jeugdgezondheidszorg
- M.S. Laurent de Angulo
- E.A. Brouwers-de Jong
- A. Bulk
Mullen Scales of Early Learning
- E. Mullen
Snijders–Oomen Niet-verbale Intelligentietest SON-R 2.5-7
- P.J. Tellegen
- M. Winkel
- B.J. Wijnberg-Williams
- J.A. Laros