Studies of 16p11.2 copy number variants (CNVs) provide an avenue to identify mechanisms of impairment and develop targeted treatments for individuals with neurodevelopmental disorders. 16p11.2 deletion and duplication phenotypes are currently being ascertained; however, sleep disturbances are minimally described. In this study, we examine sleep…

Williams syndrome (WS) is a rare genetic condition associated with high sociability, intellectual disability, and social cognitive challenges. Attention to others' eyes is crucial for social understanding. Orienting to, and from other's eyes was studied in WS (n = 37, mean age = 23, age range 9-53). The WS group was compared to a typically…

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…

Angelman Syndrome (AS) is a rare genetic disorder that impacts 1:20,000 people. Challenging behaviour, such as severe injurious behaviour, aggression and frequent unprovoked episodes of laughter are a significant problem among adults with AS that adversely impacts an individual's quality of life. This study, for the first time, aims understand the…

Individuals with Williams Syndrome (WS) are hypersocial, overfriendly, and experience social skills deficits that may adversely impact their social outcomes. This study examined the relation between social skills, friendship quality, and feelings of loneliness for adults with WS as reported by 114 parent-adult with WS dyads. Results indicate that…

Background: Williams syndrome anxiety research predominantly focuses on disorder prevalence and symptomatology, categorised using standardised mental health classifications. However, the use of these assessments may not fully capture the phenotypic features of anxiety in Williams syndrome. In this study, we examined characteristics of anxiety…

Williams syndrome (WS) is a rare genetic syndrome. As with all rare syndromes, obtaining adequately powered sample sizes is a challenge. Here we present legacy data from seven UK labs, enabling the characterisation of cross-sectional and longitudinal developmental trajectories of verbal and non-verbal development in the largest sample of…

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…

Background: The present study investigated decision-making in patients with Prader-Willi syndrome (PWS) using the Soochow Gambling Task (SGT). The objective was to assess whether adults with PWS have impaired hot executive functions and whether the deficit is specific to PWS or linked to intellectual disabilities. Method: The SGT performance of 26…

Albinism is typically misunderstood, resulting in myths and misconceptions about the condition in different parts of the world. This study explores the misconceptions about albinism in Ghana through the lens of lived experiences of persons living with albinism (PLWA) and other relevant stakeholders to ascertain the level of socio-cultural…

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…

Background: The 22q11.2 deletion syndrome (22q11DS) is characterised by a changing pattern of overlapping intellectual, physical, and mental disabilities along the course of one's life. However, the impact of overlapping disorders (multimorbidity) on educational challenges remains unclear. Method: A survey was conducted with 88 caregivers of…

Programmes which offer integrated services were analysed to identify model international and domestic programmes serving adults with neurodevelopmental disorders. Programmes were assessed according to 11 need domains identified in a previous study: supervision, transportation, housing, communication, finances/employment opportunities, activities…

Background: The present authors aimed (a) to objectively quantify spontaneous physical activity (PA) in adult patients with Prader-Willi syndrome (PWS) and (b) to evaluate the transferability of a home-based exercise training programme in these patients. Method: Physical activity was compared between 10 adult women with PWS (PWS group) and 20…

Adults with Down syndrome are at high risk for Alzheimer's disease (AD), with most individuals developing clinical dementia by their late 60s. This increased risk for AD has been attributed, at least in part, to triplication and overexpression of the gene for amyloid precursor protein (APP) on chromosome 21, leading to elevated levels of amyloid…