Individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS) have been shown to have impairments in processing spatiotemporal information. The authors examined whether children with 22q11.2DS exhibit impairments in spatial working memory performance due to these weaknesses, even when controlling for maintenance of attention. Children with…

Evidence is emerging that individuals with Fragile X syndrome (FXS) display emotion recognition deficits, which may contribute to their significant social difficulties. The current study investigated the emotion recognition abilities, and social approachability judgments, of FXS individuals when processing emotional stimuli. Relative to…

In the 1950's, many experts believed hyperkinesis was a neurotic reaction to inner conflicts arising from early family experiences. In the 1990's, many experts believed ADHD to be "genetic" (without a mechanistic explanation of what that meant). Both views appear naïve today in a scientific world grappling with the complexity…

Purpose: The current study examined semantic and phonological processing in individuals with Williams syndrome (WS). Previous research in language processing in individuals with WS suggests a complex linguistic system characterized by "deviant" semantic organization and differential phonological processing. Method: Two experiments…

Purpose: This research explored whether sustained maternal responsivity (a parent-child interaction style characterized by warmth, nurturance, and stability as well as specific behaviors, such as contingent positive responses to child initiations) was a significant variable predicting vocabulary development of children with fragile X syndrome…

Individuals with 22q11.2 deletion syndrome (22q11.2DS) are impaired at exploring visual information in space; however, not much is known about visual form discrimination in the syndrome. Thirty-five individuals with 22q11.2DS and 41 controls completed a form discrimination task with global forms made up of local elements. Affected individuals…

Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure…

This study aimed to characterize social cognition, executive functions (EFs), and everyday social functioning in adolescent girls with fragile X syndrome, and identify relationships among these variables. Participants were 20 girls with FXS and 20 age-matched typically developing peers. Results showed significant between-groups differences in…

Rett syndrome (RTT) is associated with a range of serious neurodevelopmental consequences including severe communicative impairments. Currently, no evidence-based communication interventions exist for the population (Sigafoos et al., 2009). The purpose of the current study was to examine the effectiveness of functional assessment (FA) and…

It is well established that speech, language and phonological skills are closely associated with literacy, and that children with a family risk of dyslexia (FRD) tend to show deficits in each of these areas in the preschool years. This paper examines what the relationships are between FRD and these skills, and whether deficits in speech, language…

Background: Studies conducted on mild intellectual disability (MID) in children are infrequent and the prevalence rates vary widely. This study aimed to estimate the prevalence of MID in children in a French county (Isère), to describe the clinical signs and associated comorbidities, and to specify the aetiologies of this disability. Methods: The…

Duchenne muscular dystrophy (DMD) is a progressive genetic condition that affects both muscle and brain. Children with DMD are at risk of psycho-social difficulties such as poor academic achievement and behavioural and socio-emotional problems. This article by Janet Hoskin and Angela Fawcett, both from the University of Swansea, describes how 34…

Objective: The study objective was to explore athletes' perspectives of National Collegiate Athletic Association (NCAA)--mandated sickle cell trait (SCT)--screening policy by examining race- and gender-related differences in athletes' perceptions regarding risk of having SCT and concern about loss of playing time. Participants:…

Fragile X syndrome (FXS) is a well-described inherited cause of intellectual disability and the most common known genetic cause of autism. Social deficits in girls with FXS are not well understood. To better understand barriers to social functioning that may contribute to mental health outcomes, we administered a theoretically based social…

Emerging findings from studies with infants at familial high risk for autism spectrum disorder (ASD), owing to an older sibling with a diagnosis, suggest that those who go on to develop ASD show early impairments in the processing of stimuli with both social and non-social content. Although ASD is defined by social-communication impairments and…