In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive…

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…

Sleep problems are prevalent among autistic children and children with Rare Genetic Neurodevelopmental Disorders (RGND). Behavioral interventions are commonly used to treat sleep problems, with most involving extinction. While effective, the occurrence of a response burst (i.e., temporary worsening of the behavior) can result in a temporary…

Background: We investigated how many individuals with Rett syndrome were undergoing interventions to reduce stereotypic hand movements and the factors determining the presence or absence of an intervention. Method: A questionnaire was sent to 194 families. Each survey item was compared between the intervention and non-intervention groups according…

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 study investigated the bidirectional effects of change in maladaptive behaviors among adolescents and adults with fragile X syndrome (FXS) and change in their intergenerational family relationships over a 7.5-year period. Indicators of the intergenerational family relationship between premutation carrier mothers and their adolescent or adult…

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…

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were…

Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a rare genetic disorder affecting at least 2,000 people worldwide (Phelan-McDermid Syndrome Foundation, 2019, How rare is Phelan-McDermid?). PMS has many distinguishing characteristics and many medical specialties have been recommended to treat the clinical features. While…

We further extended the use of a microswitch-cluster technology to promote object manipulation and to reduce tongue protrusion in seven children with Angelman syndrome. Study I included seven participants with severe to profound developmental disabilities. An ABB[superscript 1]AB[superscript 1] experimental sequence was implemented. During the…

The relationship between sensory processing and ASD-like and associated behaviors in patients with Prader-Willi Syndrome (PWS) remains relatively unexplored. Examining this relationship, 51 adults with PWS were administered the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), Short Sensory Profile (SSP-J), Food-Related…

This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural…

Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental…