Introduction: The objectives of the study reported here were to describe the physical and psychological health of persons with Usher syndrome Type II (USH2) and to explore any differences in terms of gender. Methods: The participants were recruited from the Swedish Usher database. In the first step, 122 persons received the questionnaire by mail,…

The participation of a student with Sickle Cell Anemia in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of students with Sickle Cell Anemia and present basic solutions to improve the experience of these students in the recess setting. Initially the definition,…

Science education in the United States will increasingly be driven by testing and accountability requirements, such as those mandated by the No Child Left Behind Act, which rely heavily on learning outcomes, or "standards," that are currently developed on a state-by-state basis. Those standards, in turn, drive curriculum and instruction.…

Individuals with Prader-Willi syndrome (PWS) are often overweight or obese because of their delayed satiety response. Three individuals with PWS participated in a long-term, multicomponent mindfulness-based health wellness program to reduce their obesity by changing their lifestyles. The components included (a) physical exercise, (b) food…

Aim: To study the aetiology of intellectual disability in patients presenting to hospital and the diagnostic yield of a standardized examination. Method: Over a 1-year period, the first three children presenting to the paediatric outpatients department (OPD) on 2 selected weekdays with developmental delay, suspected intellectual disability, or…

Objective: Velocardiofacial syndrome (VCFS; 22q11.2 deletion syndrome) represents one of the highest known risk factors for schizophrenia. Insofar as up to 30% of individuals with this genetic disorder develop schizophrenia, VCFS constitutes a unique, etiologically homogeneous model for understanding the pathogenesis of schizophrenia. Method:…

Research into the determinants and developmental course of fragile X syndrome (FXS) has made remarkable progress over the last 25 years. However, treatments to ameliorate the symptoms of FXS have been less forthcoming. While there is optimism in the field that the pace of intervention research is quickening, there has been a bias toward…

Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive…

Rubinstein-Taybi syndrome (RTS) is a rare genetic developmental disorder that often shows associated language delay. However, literature on language development in RTS is very limited, particularly for the period of early communicative development, when standardized testing can be minimally informative. The purpose of the current study was to…

The phenotypic and etiologic relation between internalizing and autistic-like traits is studied using a community-based twin sample. Internalizing and autistic-like traits showed moderate phenotypic overlap but have specific genetic influences.

Background: Sleep disorders are common in individuals with neurodevelopmental disorders and may adversely affect daytime functioning. Children with Williams syndrome have been reported to have disturbed sleep; however, no studies have been performed to determine if these problems continue into adolescence and adulthood. Methods: This study…

The authors examined receptive and expressive language profiles for a group of verbal male children and adolescents who had fragile X syndrome along with varying degrees of autism symptoms. A categorical approach for assigning autism diagnostic classification, based on the combined use of the Autism Diagnostic Interview--Revised and the Autism…

This article reports findings of a questionnaire completed by 44 families living in the UK with a child (aged 15 years or younger) with a medical diagnosis of CHARGE syndrome. The questionnaire contained three sections, namely Diagnosis (including medical and health issues), Child development, and Educational provision. This article reports on the…

Objective: Many investigators now routinely classify children with fragile X syndrome (FXS) according to whether or not they also meet diagnostic criteria for autism. To determine whether this classification is appropriate, we examined the profiles of autistic behaviors shown by boys and girls with FXS. Method: Individuals with FXS, aged 5 to 25…

Objective: To predict prodromal psychosis in adolescents with velocardiofacial syndrome (VCFS). Method: A total of 70 youth with VCFS, 27 siblings of youth with VCFS, and 25 community controls were followed from childhood (mean age = 11.8 years) into mid-adolescence (mean age = 15.0 years). Psychological tests measuring intelligence, academic…