The aim of the present study was to examine the association between a variable number tandem repeat (VNTR) functional polymorphism in the promoter region of the MAO-A gene and severity of ADHD and anxiety in boys with ASD. Parents and teachers completed a DSM-IV-referenced rating scale for 5- to 14-year-old boys with ASD (n = 43). Planned…

The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand…

When it comes to people's perceptions of internet usage, stereotypes prevail. There is the assumption that people living in poverty and those with less education do not log on. It is true that their numbers are lower than those of individuals with higher education and incomes, but these statistics may not paint the whole picture. In some…

Children with one of two genetic disorders (chromosome 22q11.2 deletion syndrome and Turner syndrome) as well typically developing controls, participated in three cognitive processing experiments. Two experiments were designed to test cognitive processes involved in basic aspects numerical cognition. The third was a test of simple manual motor…

It has been observed that persons with Cri du chat syndrome (CDCS) have poor language production. However, very few studies have addressed the question whether all aspects of language production are equally afflicted, or whether there are differences between for instance phonological and morphological abilities. The present study was aimed at…

The early and late benign occipital epilepsies of childhood (BOEC) are described as two discrete electro-clinical syndromes, eponymously known as Panayiotopoulos and Gastaut syndromes. Our aim was to explore the clinical features, classification and clinical genetics of these syndromes using twin and multiplex family studies to determine whether…

Individuals with Prader-Willi syndrome have hyperphagia, a characteristic eating disorder defined by a marked delay in the satiety response when compared to controls. This eating disorder has been particularly difficult to control. The authors taught and evaluated effectiveness of regular exercise alone, regular exercise plus healthy eating, and…

Background: Antipsychotic medications have been used extensively to treat aggressive behaviours in persons with intellectual disabilities (ID) when the main psychiatric diagnoses given to them in the past were schizophrenia, childhood psychoses and ID with behaviour problems. Today, antipsychotics are still estimated to comprise 30-50% of all the…

Asian Indians are the third largest and fastest growing Asian subgroup in the U.S. and considered the model minority due to their high education and income level. Unlike other Asian immigrants, they are a more heterogeneous group with a genetic predisposition for diabetes and cardiovascular disease. Current national surveys are incapable of…

Background: Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder that starts in childhood and frequently persists in adults. Electrophysiological studies in children with ADHD provide evidence for abnormal performance monitoring processes and familial association of these processes with ADHD. It is not yet known…

Williams syndrome (WS) is a developmental disorder characterized by relatively spared verbal skills and severe visuospatial deficits. Serious impairments in mathematics have also been reported. This article reviews the evidence on mathematical ability in WS, focusing on the integrity and developmental path of two fundamental representations,…

Turner syndrome is a common disorder with a prevalence of 1:2,500 live female births. Although not associated with mental retardation, there is an increased risk of learning difficulties in this population. In particular, mathematical learning difficulties among girls with Turner syndrome are prevalent, significant, and persistent. As such, the…

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…

Background and Methods: Unusual water intake and drinking behaviour has occasionally been observed in individuals with Prader-Willi syndrome (PWS). The aim of this study is to explore whether this observation is a part of the PWS phenotype and what the consequences may be. The parents of 51 individuals with PWS (age range 2-40 years) were asked by…

Background: Although distinctive neuropsychological impairments have been delineated in children with chromosome 22q11 deletion syndrome (22q11DS), social skills and social cognition remain less well-characterised. Objective: To examine social skills and social cognition and their relationship with neuropsychological function/behaviour and…