Background: The perceptions of individuals with Down syndrome are conspicuously absent in discussions about the use of prenatal testing. Method: Eight individuals with Down syndrome were interviewed about their views and experience of the topic of prenatal testing. Results: Interpretative phenomenological analysis revealed two major themes with…

This study investigated behavioral indicators of social fear in preschool boys with fragile X syndrome (FXS) with a low degree of autism spectrum disorder (ASD) symptoms (FXS-Low; n = 29), FXS with elevated ASD symptoms (FXS-High; n = 25), idiopathic ASD (iASD; n = 11), and typical development (TD; n = 36). Gaze avoidance, escape behaviors, and…

To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to complete the Child Behavior Checklist 6-18. The distribution of raw scores was significantly higher for the Spanish sample than…

Several studies have reported declines in adaptive behavior amongst children with fragile X syndrome (FXS) starting in middle childhood. We examined the effects of maternal responsivity on adaptive behavior in 55 children with FXS visited 5-6 times in their homes from early through middle childhood. Our analyses indicated that sustained maternal…

Purpose: Pragmatic language skills are often impaired above and beyond general language delays in individuals with neurodevelopmental disabilities. This study used a multimethod approach to language sample analysis to characterize syndrome- and sex-specific profiles across different neurodevelopmental disabilities and to examine the congruency of…

Background: Prader-Willi syndrome (PWS) is characterised by hypotonia, hypogonadism, short stature, obesity, behavioural problems, intellectual disability, and delay in language, social and motor development. There is very limited knowledge about visual-motor integration in children with PWS. Method: Seventy-three children with PWS aged 7-17 years…

Purpose: The aim of this study was to investigate language growth in individuals with fragile X syndrome (FXS) from early childhood to adolescence and the influence of maternal responsivity on language growth. Method: We conducted a longitudinal analysis of language development in 55 youths (44 males, 11 females) with FXS. Data collection spanned…

The current study took a multi-informant approach to compare parent to self-report ratings of social vulnerability of adults with Williams syndrome (WS). Participants included 102 pairs of adults with WS and their parents. Parents completed the "Social Vulnerability Questionnaire" and adults with WS completed an adapted version of the…

Using quantitative and qualitative measures, this study examined reports of sexual health education among 300 individuals with skeletal dysplasia (dwarfism). Many participants felt their sex education neglected their specific minority needs. These needs may include body image concerns, medical considerations in sex or pregnancy, and logistics of…

Verbal--spatial discrepancies are common in healthy individuals and in those with neurodevelopmental disorders associated with cognitive control deficits including: Autism Spectrum Disorder, Non-Verbal Learning Disability, Fragile X, 22q11 deletion, and Turner Syndrome. Previous data from healthy individuals suggest that the magnitude of the…

Purpose: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype. Method: Hearing-related data were collected for 133 individuals with SMS aged 1-49 years. Audiogram…

There is limited knowledge on shared and syndrome-specific attentional profiles in autism spectrum disorder (ASD) and Williams syndrome (WS). Using eye-tracking, we examined attentional profiles of 35 preschoolers with ASD, 22 preschoolers with WS and 20 typically developing children across social and non-social dimensions of attention. Children…

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…

Background: On 14 May 2013, Angelina Jolie (AJ), revealed herself to be the carrier of a BReast CAncer 1 (BRCA1) gene mutation and announced her decision to undergo a prophylactic mastectomy, followed by a laparoscopic bilateral salpingo-oophorectomy. This review explores the impact of the "Angelina Jolie Effect" in order to reveal…

The present investigation explored long-term relationships of behavioral symptoms of adolescents and adults with developmental disabilities with the mental health of their mothers. Fragile X premutation carrier mothers of an adolescent or adult child with fragile X syndrome (n = 95), and mothers of a grown child with autism (n = 213) were…