The research literature notes both biological and operant theories of behavior disorder in individuals with intellectual disabilities. These two theories of genetic predisposition and operant reinforcement remain quite distinct; neither theory on its own is sufficient to explain challenging behavior in genetic syndromes and an integrated approach…

The 22q11.2 deletion syndrome (22qDS) and schizophrenia have genetic and neuropsychological similarities, but are likely to differ in memory profile. Confirming differences in memory function between the two disorders, and identifying their genetic determinants, can help to define genetic subtypes in both syndromes, identify genetic risk factors…

The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbances may indicate underlying causes of sleep problems and these types of sleep disturbances may vary between different genetic syndromes. We examined and compared five types…

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with multiple genetic and environmental risk factors. The interplay between genetic and environmental factors has become the subject of intensified research in the last several years. Vitamin D deficiency has recently been proposed as a possible environmental risk…

A twin study is an excellent means of assessing the contribution of heritability to motor behaviour. We present a movement video-analysis of a monozygotic twins pair with a motor repertoire which is almost totally constituted by persistent and subcontinuous motor stereotypies. Purpose: The specific aim of this study is to verify the heritable…

This study aimed to quantify and compare the gait pattern in Ehlers-Danlos (EDS) and Prader-Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters…

Autism Spectrum Disorders are a class of conditions categorized by communication problems, ritualistic behaviors, and deficits in social behaviors. While evidence supporting a genetic component of Autism Spectrum Disorders (ASDs) is strong, no specific genetic marker has been identified. Thus, professionals have had to utilize intelligence tests…

The current study aimed to investigate temporal processing in Chinese children with Attention-Deficit-Hyperactivity Disorder(ADHD) using time production, time reproduction paradigm and duration discrimination tasks. A battery of tests specifically designed to measure temporal processing was administered to 94 children with ADHD and 100…

Williams syndrome (WS) is a genetic condition characterized by a unique neurocognitive and behavioral profile, including increased incidence of attention deficit/hyperactivity disorder (ADHD). The purpose of the present study was to examine the perceived helpfulness and side effects of medications used to treat ADHD (methylphenidate class,…

This paper aims to describe a general demographic picture of patients with rare diseases in Taiwan and particularly focuses on the prevalence of rare diseases over time, age and gender distributions. We analyzed data mainly from the national disability registry from 2002 to 2011 in Taiwan, Republic of China. The results showed that the number of…

Prader-Willi syndrome (PWS) is characterized by temper tantrums, impulsivity, mood fluctuations, difficulty with change in routine, skinpicking, stubbornness and aggression. Many studies on behavior in PWS are limited by sample size, age range, a lack of genetically confirmed diagnosis of PWS and inconsistent assessment of behavior. The aim of…

Williams syndrome (WS) is a neurodevelopmental genetic disorder characterized in part by anxiety and behavioral difficulties. We examine the effectiveness and adverse effects of antidepressant, anxiolytic, and antipsychotic medications in individuals with WS. A total of 513 parents/caregivers completed a survey of psychotropic medication usage…

Inhibition of inappropriate responses allows to shape the motor behavior accordingly to the context in which a subject acts and is an essential executive function. Inhibition has been poorly investigated in Down Syndrome (DS) patients. We tested, using a countermanding task, the inhibitory control in a group of DS patients and in a group of…

Research continues to try and pinpoint the etiological role of particular genes and brain structure in autistic spectrum disorder (ASD), but despite a host of biological, genetic and neuropsychological research, the symptom profile of pervasive developmental disorders (PDDs) are not yet linked to etiological theory. Debate continues around whether…

The present study examined the effects of age, gender, and causality on the perceptions of persons with mental retardation. Participants rated individuals with mental retardation using a semantic differential scale with three factors: activity, evaluation, and potency. Target individuals in each scenario varied on the variables of age (8, 20, 45),…