Fragile X syndrome is the most common inherited cause of intellectual and developmental disability. The influence of environmental variables on behaviors associated with the syndrome has received only scant attention. The current study explored the function served by problem behavior in fragile X syndrome by using experimental functional analysis…

Cognitive problems are common in children with neurofibromatosis type 1 and they can often complicate treatment. The current literature review examines cognitive functioning in neurofibromatosis type 1, with a specific focus on executive functioning. This includes exploration of how deficits in executive functioning are expressed in children with…

The behavioral phenotype of Williams syndrome (WS) is characterized by difficulties with establishment and maintenance of friendships despite high levels of interest in social interaction. Here, parents and teachers rated 84 children with WS ages 4-16 years using two commonly-used measures assessing aspects of social functioning: the Social Skills…

Recent insight into the underlying molecular and cellular mechanisms of fragile X syndrome (FXS) has led to the proposal and development of new pharmaceutical treatment strategies, and the initiation of clinical trials aimed at correcting core symptoms of the developmental disorder. Consequently, there is an urgent and critical need for outcome…

Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears…

National survey data from 884 families were used to examine the overall health of children and adults with fragile X syndrome. Results indicate the rate of obesity in adults with fragile X syndrome is similar to the general population (30%). Male children with fragile X syndrome, however, had higher rates of obesity (31%) when compared with…

This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and examined relationships between use of these resources and the health of female caregivers. Data was sourced from questionnaires completed by families (n=170) contributing to the Australian…

A functional polymorphism in the promoter of the gene encoding monoamine oxidase A has been associated with problem behavior in various populations. We examined the association of MAOA alleles in adult males with intellectual/developmental disabilities with and without established histories of problem behavior. These data were compared with a…

Factor structure and relationship between core features of autism (social impairments, communication difficulties, and restricted, repetitive behaviours or interests (RRBIs)) were explored in 189 children from the Twins Early Development Study, diagnosed with autistic spectrum disorders (ASDs) using the Development and Wellbeing Assessment (DAWBA;…

Mouse models are a standard tool in the study of many human diseases, providing insights into the normal functions of a gene, how these are altered in disease and how they contribute to a disease process, as well as information on drug action, efficacy and side effects. Our knowledge of human genes, their genetics, functions, interactions and…

Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

In order to investigate unique and shared characteristics and to determine factors predictive of group classification, quantitative comparisons of behavioral and emotional problems were assessed using the Developmental Behavior Checklist (DBC-P) and the Vineland Adaptive Behavior Scales in autistic disorder, Williams syndrome (WS), and…

Fragile X syndrome is the most common heritable form of mental retardation caused by loss-of-function mutations in the "FMR1" gene. The "FMR1" gene encodes an RNA-binding protein that associates with translating ribosomes and acts as a negative translational regulator. Recent work in "Drosophila melanogaster" has shown that the fly homolog of…

Fragile X syndrome (FXS) is the leading inherited cause of mental retardation. In this article, we review what is known about the language and related problems of individuals with FXS. In doing so, we focus on the syndrome-specific features of the language phenotype and on the organismic (i.e., genetic and individual neurocognitive and behavioral)…

The genetic study of ADHD has made considerable progress. Further developments in the field will be reliant in part on identifying the most appropriate phenotypes for genetic analysis. The use of both categorical and dimensional measures of symptoms related to ADHD has been productive. The use of multiple reporters is a valuable feature of the…