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…

Angelman Syndrome (AS) is a neurodevelopmental disorder most commonly caused by the impaired expression of the maternal "UBE3A" gene on chromosome 15. Though anxiety has been identified as a frequently present characteristic in AS, there are limited studies examining anxiety in this population. Studies of anxiety in other…

This pilot study investigates the feasibility and assesses the impact of "Lactobacillus plantarum" PS128 probiotics on the neurological function in Rett syndrome. We conducted a randomized, double-blind, and placebo-controlled trial on Rett syndrome with MECP2 mutation aged between 1 and 50 years in Taiwan. In this pilot study,…

Objective: This study aimed to investigate the relationship between Cognitive Disengagement Syndrome (CDS) symptoms in children/adolescents and their parents within the Turkish population, examining the association with co-occurring ADHD symptoms, peer/social relationships, and total difficulties. Method: The study included 229 parents aged 18 to…

In this study, we examined trajectories of specific domains of behavior problems (i.e., attention problems, depression/anxiety, and aggressive behavior) from age 6 to 18 in a sample of 55 children with fragile X syndrome. We also examined autism status and early parenting as predictors of subsequent behavioral trajectories. We found that attention…

Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age,…

Behavioral inflexibility (BI) has been highlighted to occur across genetic and neurodevelopmental disorders. This study characterized BI in two common neurogenetic conditions: Fragile X syndrome (FXS) and Down syndrome (DS). Caregivers of children with FXS (N = 56; with ASD = 28; FXS only = 28) and DS (N = 146) completed the Behavioral…

It is well documented that mothers of children with challenging behavior (CB) experience elevated levels of stress and that this persists over time, but less is known about the experience of mothers of children with rare genetic syndromes. This article describes 2 studies, 1 cross-sectional and 1 longitudinal, comparing well-being in mothers of…

Background: There is sparse literature about problem behaviour in young children with Williams syndrome (WS) and little consideration of the perspectives of multiple respondents. Methods: Problem behaviour of 35 children with WS ages 2 to 6 was examined based on both parent and teacher report using the Achenbach preschool forms. Results: The most…

Interpersonal distance regulation is crucial for successful social interactions. We investigated personal space awareness in Williams syndrome (WS) and autism spectrum disorder (ASD) compared to typical development. Parents reported that individuals with WS and ASD were significantly more likely than those developing typically to invade the…

Problem behavior of 52 children with Williams syndrome ages 6 to 17 years old was examined based on both parent and teacher report. Generally good inter-rater agreement was found. Common areas of problem behavior based both on parent and teacher report included attention problems, anxiety difficulties, repetitive behaviors (e.g., obsessions,…

Few published studies have reported on the psychological well-being of family members of individuals with Rett syndrome (RTT). Eighty-seven mothers of girls and women with RTT completed a questionnaire survey about their daughters' behavioral phenotype, current health, and behavior problems, and their own and a sibling's well-being. Mothers…

Children with Autism Spectrum Disorder or Williams syndrome are vulnerable to anxiety. The factors that contribute to this risk remain unclear. This study compared anxiety in autism spectrum disorder and Williams Syndrome and examined the relationship between repetitive behaviours and anxiety. Thirty-four children with autism and twenty children…

Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…

Background: The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in Cornelia de Lange syndrome (CdLS). However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. In this study we examine the ASD profile in CdLS in…