Giovanni Cioni

Giovanni Cioni
University of Pisa | UNIPI · Department of Clinical and Experimental Medicine

About

425
Publications
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Publications

Publications (425)
Article
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Recognizing and understanding the actions of others through motion information are vital functions for social adaptation. Conditions like neurological disorders and motor impairments can impact sensitivity to biological motion, highlighting the intricate relationship between perceiving and executing movements. Our study centred on assessing the abi...
Article
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Background/Objectives: In recent years, the advent of new technologies has fostered their application in neuro-psychomotor and language rehabilitation, particularly since the COVID-19 pandemic. Tele-rehabilitation has emerged as an innovative and timely solution, enabling personalized interventions monitored by clinicians. TABLET TOSCANA project ai...
Article
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Introduction The use of Information and Communication Technology (ICT) for assessing and treating cognitive and motor disorders is promoting home-based telerehabilitation. This approach involves ongoing monitoring within a motivating context to help patients generalize their skills. It can also reduce healthcare costs and geographic barriers by min...
Article
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Unilateral spastic Cerebral Palsy (UCP) results from congenital brain injury, and Magnetic Resonance Imaging (MRI) has a role in understanding the etiology and severity of brain insult. In UCP, functional impairment predominantly occurs in the upper limb (UL) of the more affected side, where manual ability and dexterity are typically reduced. Also,...
Chapter
Nowadays, in the clinical field, technologies appear to be an add-on value for the early detection and intervention processes, pivotal elements for dealing with, at an early stage, infants’ issues, such as neurodevelopmental disorders. At the same time, evidence-based studies have shown how home environment and family can be important in early infa...
Article
Background: The effects of unilateral cerebral palsy (UCP) are largely observed in the upper limb (UL), which represents the main focus of rehabilitation for this disorder. Thanks to an increment in home training and progress in technology innovative systems have been created. The Tele-UPCAT (Tele-monitored UPper Limb Children Action Observation T...
Article
Background: Children with Developmental Coordination Disorder (DCD) face difficulties in motor learning. Action observation and imitation are strategies frequently used to teach motor skills. Aims: (1) To study action observation and imitation abilities in children with DCD compared with typically developing peers with a new protocol. (2) To gai...
Article
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Background: Nowadays, wearable sensors are widely used to quantify physical and motor activity during daily life, and they also represent innovative solutions for healthcare. In the clinical framework, the assessment of motor behaviour is entrusted to clinical scales, but they are dependent on operator experience. Thanks to their intrinsic objecti...
Article
No treatment options are currently available to counteract cognitive deficits and/or delay progression towards dementia in older people with mild cognitive impairment (MCI). The 'Train the Brain' programme is a combined motor and cognitive intervention previously shown to markedly improve cognitive functions in MCI individuals compared to non-train...
Article
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Executive Functions are a set of interrelated, top-down processes essential for adaptive goal-directed behaviour, frequently impaired across different neurodevelopmental disorders with variable degrees of severity. Many executive-function-training studies in children with neurodevelopmental disorders have focused on near effects, investigating post...
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Aim This study aimed to identify early clinical biomarkers from birth to 16 weeks corrected age to predict typical outcome and developmental delay in infants born very preterm or with very low birthweight. Method A prospective cohort of infants on the Sunshine Coast, Australia, was assessed using the Premie‐Neuro Examination, the General Movement...
Article
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Parental practices and environmental factors can impact a child’s development and, consequently, functionality. The objective is to assess the parental practices and environmental differences in healthy and at-risk infants at 3–6 months of age living in upper-middle (Brazil) and high-income (Italy) countries. A total group of 115 infants was identi...
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Background: Developmental Coordination Disorder (DCD) causes difficulties in postural control which are crucial to assess due to their impact on everyday life. There is a lack of suitable tools to acquire quantitative data and deeply analyze postural control, especially during the developmental age. The aim of this study is to investigate postural...
Article
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Neurodevelopmental disorders (NDDs) are considered synaptopathies, as they are due to anomalies in neuronal connectivity during development. DLG2 is a gene involved insynaptic function; the phenotypic effect of itsalterations in NDDs has been underestimated since few cases have been thoroughly described.We report on eight patients with 11q14.1 imba...
Article
Goal-oriented locomotion (GOL) is a complex task integrating navigation and gait control. To our knowledge, this is the first study of GOL in subjects with Cerebral Palsy (CP). Thirteen subjects with spastic diplegia and 26 with typical development were enrolled in the study. Subjects performed a GOL task to reach luminous targets. Within-subject t...
Article
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Autistic traits represent a continuum dimension across the population, with autism spectrum disorder (ASD) being the extreme end of the distribution. Accumulating evidence shows that neuroanatomical and neurofunctional profiles described in relatives of ASD individuals reflect an intermediate neurobiological pattern between the clinical population...
Article
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The literature on time perception in individuals with ADHD is extensive but inconsistent, probably reflecting the use of different tasks and performances indexes. A sample of 40 children/adolescents (20 with ADHD, 20 neurotypical) was engaged in two identical psychophysical tasks measuring auditory time thresholds in the milliseconds (0.25–1 s) and...
Article
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Background SLC39A8 , a gene located on chromosome 4q24, encodes for the manganese (Mn) transporter ZIP8 and its detrimental variants cause a type 2 congenital disorder of glycosylation (CDG). The common SLC39A8 missense variant A391T is associated with increased risk for multiple neurological and systemic disorders and with decreased serum Mn. Pati...
Article
Background The assessment of postural control in children is crucial, due to its central role in their overall development. However, a tool that objectively quantifies the difference in postural control between typical and atypical developing children is lacking. In this study, we introduce a new technology (Virtual Reality Rehabilitation System, V...
Article
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Syndromic neurodevelopmental disorders are usually investigated through genetics technologies , within which array comparative genomic hybridization (Array-CGH) is still considered the first-tier clinical diagnostic test. Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associa...
Article
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The coming of an unforeseen and hostile event such as the COVID-19 pandemic has brought about various changes in everyone's daily life. During the lockdown period, a huge number of restrictions were imposed, hence interrupting a wide range of activities previously proven to be necessary for some people. Due to the circumstances, rehabilitation trea...
Article
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Navigation is a complex process, requiring target localization, route planning or retrieval, and physical displacement. Executive functions (EFs) such as working memory, inhibition and planning are fundamental for succeeding in this complex activity and are often impaired in Attention Deficit and Hyperactivity Disorder (ADHD). Our aim was to analyz...
Preprint
Full-text available
Background. The literature on time perception in individuals with ADHD is extensive but inconsistent, probably reflecting the use of different tasks and performances indexes. Methods. A sample of 40 children/adolescents (20 with ADHD, 20 neurotypical) was engaged in two identical psychophysical tasks measuring auditory time thresholds for both subs...
Article
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We report a case series of children with childhood apraxia of speech, by describing behavioral and white matter microstructural changes following 2 different treatment approaches. Five children with childhood apraxia of speech were assigned to a motor speech treatment (PROMPT) and 5 to a language, nonspeech oral motor treatment. Speech assessment a...
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The lockdown due to the COVID-19 pandemic has had adverse psychological effects on children and parents. While parenting is essential for positive development, increased parental distress has interfered with children’s wellbeing. In our study, we aimed to identify the predictors of parental distress in families of children with neuropsychiatric dis...
Article
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Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and patients need lifelong assistance. Thus, the research of novel intervention strategies is a maj...
Article
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Infant massage (IM) can be considered an early intervention program that leads to the environmental enrichment framework. The effectiveness of IM to promote neurodevelopment in preterm infants has been proved, but studies on infants with early brain damage are still lacking. The main aim of this study was to assess the feasibility, acceptability an...
Preprint
Full-text available
Autistic traits represent a continuum dimension across the population, with autism spectrum disorder (ASD) being the extreme end of the distribution. Accumulating evidence shows that neuroanatomical and neurofunctional profiles described in relatives of ASD individuals reflect an intermediate neurobiological pattern between the clinical population...
Article
Background Cerebellar hemorrhage (CBH) represents the main form of direct cerebellar injury in preterm infants. Most CBHs occur bilaterally, while isolated unilateral hemorrhages are less frequent and often associated with focal atrophy. Limited and heterogeneous data exist on preterm birth, unilateral CBH and consequent long-term neurodevelopmenta...
Article
Background Severe loss of TBCE function has been related to two well-known dysmorphic syndromes, while TBCE hypomorphic variants have been linked to neurodegenerative conditions due to perturbed microtubule dynamics and homeostasis, with signs of central and peripheral nervous system involvement. Method We report on an Italian female originating f...
Article
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Importance Cerebral palsy (CP) is the most common childhood physical disability. Early intervention for children younger than 2 years with or at risk of CP is critical. Now that an evidence-based guideline for early accurate diagnosis of CP exists, there is a need to summarize effective, CP-specific early intervention and conduct new trials that ha...
Article
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Introduction Cognitive difficulties and neuropsychological alterations in Duchenne and Becker muscular dystrophy (DMD, BMD) boys are not yet sufficiently explored, although this topic could have a relevant impact, finding novel biomarkers of disease both at genetics and neuroimaging point of view. The current study aims to: 1) analyze the neuropsyc...
Article
Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms of the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia of childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, and relap...
Article
Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and weakness of the lower limbs with a notable phenotypic variation and an autosomal recessive (AR), autosomal dominant (AD), and X-linked inheritance pattern. The recent clinical use of n...
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This article explores the clinical implications of the three different classes drawn from a Rasch analysis of the general movements optimality scores (GMOS) of 383 infants. Parametric analysis of the class membership examines four variables: age of assessment, brain injury presence, general movement patterns, and 2-year-old outcomes. GMOS separated...
Article
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Tetrabenazine has been studied with a variety of hyperkinetic movement disorders, but there is limited and empirical literature on the potential efficacy of tetrabenazine in children with dyskinetic cerebral palsy (DCP). The purpose of this study was to evaluate the efficacy of tetrabenazine in a sample of children with DCP using the Movement Disor...
Article
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Abstract Background Preterm infants and infants with perinatal brain injury show a higher incidence of neurodevelopmental disorders (NDD). The Infant Motor Profile (IMP) is a clinical assessment which evaluates the complexity of early motor behaviour. More data are needed to confirm its predictive ability and concurrent validity with other common a...
Article
Aims: To develop a new protocol for the assessment of action observation (AO) abilities and imitation of meaningful and non-meaningful gestures, to examine its psychometric properties in children with DCD and typically developing (TD) children. Background: For learning manual skills, AO and imitation are considered fundamental abilities. Knowled...
Article
The aim of the study was to re-assess neuropsychological profile in a group of boys with Duchenne muscular dystrophy without intellectual disability and neuropsychiatric disorder three years apart from a previous evaluation, to establish possible changes over time. We were also interested in defining more in detail correlation between genotype and...
Article
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Pre-term spastic diplegia (pSD) due to periventricular leukomalacia is a form of cerebral palsy in which weaknesses in executive functions are reported beyond the core visuo-spatial deficits. The study aimed at improving executive functioning and visuo-spatial skills with an evidence-based training focused on working memory in children with pSD. Th...
Article
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Infants with perinatal brain injury are at high risk for Cerebral Palsy (CP). Progresses in detection of early signs of brain injury and of CP allow early intervention (EI) programs for improving the outcome of these infants. CareToy system (CT), developed within a European project (Trial Registration: NCT01990183), allows providing, by means of te...
Article
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Autism Spectrum Disorder (ASD) and Childhood Apraxia of Speech (CAS) are developmental disorders with distinct diagnostic criteria and different epidemiology. However, a common genetic background as well as overlapping clinical features between ASD and CAS have been recently reported. To date, brain structural language-related abnormalities have be...
Article
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Impairments of visual motion perception and, in particular, of flow motion have been consistently observed in premature and very low birth weight subjects during infancy. Flow motion information is analyzed at various cortical levels along the dorsal pathways, with information mainly provided by primary and early visual cortex (V1, V2 and V3). We i...
Article
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On 11 March 2020, a national lockdown was imposed by the Italian government to contain the spread of COVID19 disease. This is an observational longitudinal study conducted at Fondazione Stella Maris (FSM), Italy to investigate lockdown-related emotional and behavioural changes in paediatric neuropsychiatric population. Families having children (1.5...
Article
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Aim This systematic review evaluates the accuracy of clinical tools used at a corrected age of 6 months or younger to predict motor and cognitive delay (not cerebral palsy) at 24 months’ corrected age, in infants born very preterm. Method Six databases were searched. Quality was evaluated using the Quality Assessment of Diagnostic Accuracy Studies...
Preprint
Full-text available
Background: Preterm infants and infants with perinatal brain injury show higher incidence of neurodevelopmental disorders (NDD). The Infant Motor Profile (IMP) is a clinical assessment which evaluates the complexity of early motor behaviour. More data are needed to confirm its predictive ability and concurrent validity with other common and valid a...
Article
Full-text available
Creatine Transporter Deficiency (CTD) is an inborn error of metabolism presenting with intellectual disability, behavioral disturbances and epilepsy. There is currently no cure for this disorder. Here, we employed novel biomarkers for monitoring brain function, together with well-established behavioral readouts for CTD mice, to longitudinally study...
Article
It is well known how early visual experience is critical for the development of multisensory processing abilities, and for this reason an early vision impairment could hinder the transfer of different sensory information during the exploration and recognition of the surrounding environment. Recently, we verified that visuo-haptic transfer for objec...
Article
New rehabilitation programs based on action observation therapy (AOT) are effective in improving motor function in children with congenital hemiplegia. In this pilot study we tested the potential effects of AOT on the reorganization of the motor system by functional magnetic resonance imaging (fMRI). As part of a randomized trial, 8 subjects (age r...
Article
The aim of this study was to evaluate the relationship between neurodevelopmental disorders, brain anomalies, and copy number variations (CNVs) and to estimate the diagnostic potential of cytogenomical microarray analysis (CMA) in individuals neuroradiologically characterized with intellectual developmental disorders (IDDs) isolated or associated w...
Article
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Aim: To systematically explore the relationship between type and severity of brain lesion on Magnetic Resonance Imaging (MRI) and visual function in a large cohort of children with periventricular leukomalacia (PVL). Methods: 94 children with bilateral cerebral palsy (CP) and history of PVL were recruited at Stella Maris Scientific Institute in...
Article
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Background: Creatine (Cr), an amino acid derivative, is one of the most important sources of energy acting as both a spatial and temporal energy buffer through its phosphorylated analogue phosphocreatine (PCr) and creatine kinase (CK). Maternal Cr biosynthesis and metabolism seem to play an important role in pregnancy, as shown in preclinical and...
Article
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Creatine transporter deficiency is a metabolic disorder characterized by intellectual disability, autistic-like behavior and epilepsy. There is currently no cure for creatine transporter deficiency, and reliable biomarkers of translational value for monitoring disease progression and response to therapeutics are sorely lacking. Here, we found that...
Article
Full-text available
Unilateral Cerebral Palsy (UCP), the most frequent form of Cerebral Palsy, usually affects more the upper limb (UL) than the lower limb. Rehabilitation programs are addressed to improve manual abilities and UL use. In recent years, Information and Communication Technology (ICT) has been introduced in rehabilitation to increase treatment opportuniti...
Article
Full-text available
Educational Robotics (ER) is a new learning approach that is known mainly for its effects on scientific academic subjects such as science, technology, engineering, and mathematics. Recent studies indicate that ER can also affect cognitive development by improving critical reasoning and planning skills. This study aimed to quantify the ability of ER...
Conference Paper
Constraint-induced movement therapy (CIMT) improves upper limb (UL) motor execution in unilateral cerebral palsy (uCP). Additional training targeting motor planning deficits might be of additional value. Here, we investigated the combined effect of action-observation training (AOT) to CIMT and identified factors influencing treatment response. For...
Article
Background: Movement Disorders - Childhood Rating Scale 4-18 (MD-CRS 4-18) is a tool aimed to evaluate movement disorders in developmental age, validated since 2008 and applied in literature. Psychometric properties, including inter- and intra-reliability and construct validity have been evaluated over time on children and adolescents with differe...
Article
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Children with Special Needs represent a highly heterogeneous group in terms of neurofunctional, behavioral, and socio-cognitive characteristics, but they have in common a frequent impairment of Executive Functions. Educational Robotics is generally dedicated to study the effects of constructing and programming robots based on children’s learning an...
Article
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Introduction: Constraint-induced movement therapy (CIMT) improves upper limb (UL) motor execution in unilateral cerebral palsy (uCP). As these children also show motor planning deficits, action-observation training (AOT) might be of additional value. Here, we investigated the combined effect of AOT to CIMT and identified factors influencing treatme...
Article
Aim: To explore the psychometric properties of the general movements optimality score (GMOS) by examining its dimensionality, rating scale functioning, and item hierarchies using Rasch measurement. Methods: Secondary data analysis of the GMOS data for video-recording of 383 infants with uni-, multidimensional, and mixed Rasch partial credit mode...
Article
The great majority of children with neurodevelopmental challenges do not get specific intervention until after their second birthday. This worsens their outcomes, because a great part of the entire neuroplastic window for learning is misspent. There is emerging evidence that the impact on outcomes of early goal-directed training involving the paren...
Article
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Background To systematically review and analyse the effects of Action Observation Training on adults and children with brain damage. Methods Seven electronic databases (Cochrane, EBSCO, Embase, Eric, PubMed, Scopus and Web of Science) were searched up to 16 September 2018 to select Randomized Controlled Trials focused on adults and children with b...
Article
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CareToy (CT) System has been recently developed and validated in preterm infants with positive effects at short-term both on visual and motor development. Objective. We aimed to assess the feasibility of CT training in infants with Down Syndrome (DS) and to evaluate the effects of the CT training in promoting their neurodevelopment. Methods. 10 inf...
Preprint
Full-text available
Introduction Constraint-induced movement therapy (CIMT) improves upper limb (UL) motor execution in unilateral cerebral palsy (uCP). As these children also show motor planning deficits, action-observation training (AOT) might be of additional value. Here, we investigated the combined effect of AOT to CIMT and identified factors influencing treatmen...
Article
Full-text available
The Prechtl General Movement Assessment (GMA) has become a cornerstone assessment in early identification of cerebral palsy (CP), particularly during the fidgety movement period at 3– 5 months of age. Additionally, assessment of motor repertoire, such as antigravity movements and postural patterns, which form the Motor Optimality Score (MOS), may p...
Chapter
This chapter describes a new approach of educational robotics (ER) aimed at empowering higher cognitive functions in school. As robot programming requires mentally planning complex action sequences before the motor act, ER may promote several crucial cognitive processes underlying learning. During robot programming, the child has to first set the t...
Article
Full-text available
Educational robotics (ER) uses robotic kits as a channel for education and collaborative learning in a play setting. Thanks to adaptability of robots, ER could facilitate inclusion of special-needs children, such as children with Down syndrome (DS), in learning programs. In a previous study, we provided evidence that ER could promote superior cogni...