"ATRX" mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic…

The current study examines the efficacy of an 8-week pretend play intervention targeting social-cognitive abilities in children with Prader-Willi syndrome (PWS), ages 6-9. PWS is a rare disorder associated with various social, emotional, and cognitive challenges linked to pretend play impairments, and for which interventions are sparse. Nineteen…

Background: Autistic people without intellectual disabilities have increased perceptual capacity: they can process more information at any given time compared to non-autistic people. We examined whether increased perceptual capacity is evident across the autistic spectrum (i.e. for autistic people with intellectual disabilities) and whether it is…

Purpose: The heterogeneity of autism is well documented, but few studies have studied the heterogeneity of gesture production ability in autistic children. The present study aimed to identify subgroups of autistic children who displayed heterogeneous gesture production abilities and explore the underlying factors, including autism characteristics,…

Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…

Background: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). Methods: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who…

To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving…

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which…

Purpose: Individuals with proximal 16p11.2 copy number variants (CNVs), either deletions (16p11.2DS) or duplications (16p11.2Dup), are predisposed to neurodevelopmental difficulties and disorders, such as language disorders, intellectual disability, and autism spectrum disorder. The purpose of the current study was to characterize language…

Genetic tests, such as Fragile X and Chromosomal Microarray, are recommended as a standard of care during the evaluation of autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, previous research demonstrates low rates of genetic testing. This study aimed to identify the rates of genetic testing and patient demographic…

Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes…

Individuals with fragile X syndrome (FXS) and their parents have a range of experiences navigating the crucial transition period between adolescence and adulthood. Semi structured interviews of 47 mothers of adolescents with FXS (mean child age = 15.89 years) were analyzed to identify mothers' changing expectations during the adolescent period and…

Background: Siblings of children with intellectual disability have unique family experiences, varying by type of disability. Methods: Parents of children with Down syndrome (156) or with Rett syndrome (149) completed questionnaires relating to sibling advantages and disadvantages, experiences of holidays and recreation, and perceived availability…

This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to Japanese individuals with WS (n = 78, 4.4-44.0 years) and ASD (n = 75, 4.7-55.4 years). The scores…

Many individuals with autism experience challenges using language in social contexts (i.e., pragmatic language). Characterizing and understanding pragmatic variability is important to inform intervention strategies and the etiology of communication challenges in autism; however, current manual coding-based methods are often time and labor…