Although individuals recognize the importance of knowing their family's health history for their own health, relatively few people (e.g., less than a third in one national survey) collect this type of information. This study examines the rates of family communication about family health history of cancer, and predictors of communication in a…

Public policy surrounding newborn screening is in flux. New technology allows more screening for more diseases at lower cost. Traditional criteria for target diseases have been criticized by leading health policymakers. The example of newborn screening for Krabbe disease highlights many of the dilemmas associated with population-based screening…

Newborn screening (NBS), since its implementation in the 1960s, has traditionally been successful in reducing mortality and disability in children with a range of different conditions. Lysosomal storage disorders (LSD) are a heterogeneous group of inherited metabolic diseases that result from lysosomal dysfunction. Based on available treatment and…

Background: Williams syndrome (WS) is a neurodevelopmental genetic disorder characterised by physical abnormalities and a distinctive cognitive profile with intellectual disabilities (IDs) and learning difficulties. Methods: In our study, nine adolescents and young adults with WS and 9 age- and sex-matched typically developing (TD) participants…

One of the most intriguing characteristics of Williams Syndrome individuals is their hypersociability. The amygdala has been consistently implicated in the etiology of this social profile, particularly given its role in emotional and social behavior. This study examined amygdala volume and symmetry in WS individuals and in age and sex matched…

Williams syndrome (WS) is a neurodevelopmental disorder characterized by severe impairment of visuospatial abilities. Figure-drawing abilities, which are thought to reflect visuospatial abilities, have yet to be fully investigated in WS. The purpose of the present study was to clarify whether drawing abilities differ between WS individuals and…

Mitochondrial diseases are very heterogeneous and can affect different tissues and organs. Moreover, they can be caused by genetic defects in either nuclear or mitochondrial DNA as well as by environmental factors. All of these factors have made the development of therapies difficult. In this review article, we will discuss emerging approaches to…

Since the 1990s the number of children with disabilities placed within the general education classroom has steadily increased. Many of these children are provided special education services under the generic disability title "intellectual disability." Over the past decade, there has been a significant amount of research concerning rare…

Most research into the effectiveness of Social Stories has focused on children with Autism Spectrum Disorders (ASD). This study examines the use of Social Stories with four adults with learning disabilities and social communication impairments characteristic of ASD. This study employed an N = 1 multiple-baseline, across-participant, AB design with…

Multilevel modeling was used to address the longitudinal stability of standard scores (SSs) measuring intellectual ability for children with Williams syndrome (WS). Participants were 40 children with genetically confirmed WS who completed the Kaufman Brief Intelligence Test--Second Edition (KBIT-2; A. S. Kaufman & N. L. Kaufman, 2004) 4-7…

The aim of this study was to compare the prosodic profiles of English- and Spanish-speaking children with Williams syndrome (WS), examining cross-linguistic differences. Two groups of children with WS, English and Spanish, of similar chronological and nonverbal mental age, were compared on performance in expressive and receptive prosodic tasks…

The purpose of this study is to describe clinical and laboratory data, as well as comorbid disorders in Greek children with autism spectrum disorders (ASD). Data were retrospectively collected for 222 children aged 1.5-9 years. The mean age at diagnosis was 43.7 [plus or minus] 17.6 months. Significantly earlier diagnoses were noted in children…

The present study focussed on a specific type of rare genetic condition: chromosome 14 deletions. Children with this genetic condition often show developmental delays and brain and neurological problems, although the type and severity of symptoms varies depending on the size and location of the deleted genetic material. The specific aim of the…

Aberrant attention is a core feature of fragile X syndrome (FXS), however, little is known regarding the developmental trajectory and underlying physiological processes of attention deficits in FXS. Atypical visual attention is an early emerging and robust indicator of autism in idiopathic (non-FXS) autism. Using a biobehavioral approach with gaze…

Verbal perseveration is a frequently reported language characteristic of males with Fragile X syndrome and may be a defining feature or hallmark of the syndrome. We compared the verbal perseveration of boys with Fragile X syndrome with (n = 29) and without (n = 30) autism spectrum disorder, boys with Down syndrome (n = 27), and typically…