Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…

"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…

Background: The affective expression of sexual behaviour in individuals with Williams syndrome can lead to risky behaviours, especially if parents do not have information on how to provide sex education or support from specialised professionals. Method: The Attitudes to Sexuality Questionnaire for Individuals with Intellectual Disabilities was…

Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X…

Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…

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,…

Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder associated with social cognitive challenges, and pretend play has been demonstrated as a tool to achieve developmental goals. Following previous report on feasibility and acceptability of a remote, play-based parent-training program (Zyga, Russ, & Dimitropoulos, 2018), we now…

One of the overriding hopes of the Down syndrome (DS) research community is to arrive at a better understanding of how trisomy 21 affects brain development and function, and that doing so will improve quality of life and independence for people with DS. In searching for the underlying causes of intellectual disability in DS, researchers and…

The purpose of the study was to characterize repetitive phenomena in Williams syndrome (WS). The parents of 60 subjects with WS completed the Yale-Brown Obsessive Compulsive Scale (Y-BOCS) or Children's Y-BOCS, the Yale Global Tic Severity Scale, the Stereotyped Behavior Scale, and the Spence Children's Anxiety Scale--Parent Version. Nineteen…

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…

The present study investigated the role of demographic and personal factors concerning the attitudes toward intellectual disability. Our sample consisted of 482 Romanians aged 18 to 74. We measured the overall attitudes toward intellectual disability, as well as some specific dimensions, i.e., integration or segregation, social distance, private…

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…

Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…