Fragile X syndrome (FXS), the leading heritable cause of intellectual disability, has a co-occurrence rate of autism spectrum disorder (ASD) estimated at ~60%. The onset and rates of motor development in FXS are slower relative to neurotypical development, and even more so in the context of co-occurring FXS + ASD. Extant evidence suggests these…

The study characterised differences in costs associated with raising a child between four rare disorders and examined the associations between these costs with clinical severity. Caregivers of 108 individuals with Prader-Willi, Angelman (AS), Chromosome 15q Duplication and fragile X (FXS) syndromes completed a modified Client Services Receipt…

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…

This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with "PTEN" mutations and individuals with macrocephalic ASD. The sample included 38 individuals with "PTEN" mutation and ASD diagnosis ("PTEN"-ASD; M[subscript age] =…

Specialized multidisciplinary supports are important for long-term outcomes for autistic youth. Although family and child factors predict service utilization in autism, little is known with respect to youth with rare, autism-associated genetic variants, who frequently have increased psychiatric, developmental, and behavioral needs. We investigate…

Chromosomal abnormalities are now considered a common cause of intellectual disability. With increased genetic testing, phenotyping and technological advancements, many new syndromes have been identified. This review sought to explore parental stress and adjustment in the context of rare genetic syndromes to evaluate their clinical impact. A…

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…

This study examined gene-environment correlation (rGE) in intellectual and academic development in 561 U.S.-based adoptees (57% male; 56% non-Latinx White, 19% multiracial, 13% Black or African American, 11% Latinx) and their birth and adoptive parents between 2003 and 2017. Birth mother intellectual and academic performance predicted adoptive…

Purpose: The current study addresses a gap in the literature regarding syntactic development of adolescent boys with fragile X syndrome (FXS) and Down syndrome (DS). Specifically, we ask whether syntactic skills plateau or continue to change during adolescence for these groups and whether the profile of syntactic change differs between boys with…

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…

Children with CHARGE syndrome, an extremely complex, highly variable genetic disorder, are significantly delayed in the onset of their motor milestones in comparison with children without disabilities due to sensory and motor deficits as well as lengthy hospitalizations and reduced physical activity. Currently, the role of parents' perceptions and…

We examined the cognitive, language, and instructional predictors of early word-reading ability in a sample of children with Williams syndrome longitudinally. At Time 1, sixty-nine 6-7-year-olds (mean age = 6.53 years) completed standardized measures of phonological awareness, visual-spatial perception, vocabulary, and overall intellectual…

This pilot study sought to identify potential markers of improvement from pre-post treatment in response to computerized working memory (WM) training for youth (ages 8-18) with autism spectrum disorder (ASD) and comorbid intellectual disability (ID) in a single arm, pre-post design. Participants included 26 children with ASD and 18 with comorbid…

This study characterized the rates of attention-deficit/hyperactivity disorder (ADHD) in adolescent and young adult males with fragile X syndrome (FXS) using a multi-method approach integrating a DSM-based parent interview (Children's Interview for Psychiatric Syndromes; P-ChIPS, Fristad et al., 1998) and a parent rating scale (Child Behavior…

Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader-Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12-57 years);…