Purpose: In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. Method: Participants with fragile X syndrome (n = 27), ages 10-17 years, were matched groupwise on…

We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from a retrospective analysis…

The autism phenotype is associated with an excess of brain volume due in part to decreased pruning during development. Here we aimed at assessing brain volume early in development to further elucidate previous findings in autism and determine whether this pattern is restricted to idiopathic autism or shared within the autistic phenotype (fragile X…

Individuals with Williams syndrome (WS) have impairments in visuospatial tasks and in manual visuomotor control, consistent with parietal and cerebellar abnormalities. Here we examined whether individuals with WS also have difficulties in visually controlling whole-body movements. We investigated visual control of stepping down at a change of…

This report describes a novel, inquiry-based learning plan developed as part of the GENA educational outreach project. Focusing on mitochondrial genetics and disease, this interactive approach utilizes pedigree analysis and laboratory techniques to address non-Mendelian inheritance. The plan can be modified to fit a variety of educational goals…

The link between parental autistic tendency and anxiety symptoms was studied in 491 Taiwanese couples raising biological children with autism spectrum disorders (ASDs). Parental autistic tendency as measured by Autism Spectrum Quotient (AQ) was associated with anxiety symptoms across all domains. Large effect sizes were found in social phobia and…

An understanding of how genomics information, including information about risk for common, multifactorial disease, can be used to promote personal health (personalized medicine) is becoming increasingly important for the American public. We undertook a quantitative content analysis of commonly used high school textbooks to assess how frequently…

Landau-Kleffner syndrome (LKS) is a rare childhood disorder that is often misdiagnosed as autism or childhood psychosis because of overlapping symptom presentation. Favorable prognoses in LKS depend on early diagnosis and treatment. While much is known about the clinical basis for LKS diagnosis, little is known about parents' lived experience with…

This study investigated the attitude towards pre-marital genetic screening among students of Osun State Polytechnics. Descriptive survey design was used for the study. The instrument for data collection was self developed and structured questionnaire in four-point likert scale format. Descriptive statistics of frequency count and percentages were…

An increasing number of children are likely to have a known genetic cause for their special educational needs. One such genetic condition is 22q11.2 deletion syndrome (22qDS), a genetic syndrome associated with early speech and language difficulties, global and specific cognitive impairments, difficulties with attention and difficulties with…

Background: This investigation of children with Angelman syndrome (AS) examined reported uses of electronic augmentative and alternative communication (AAC) devices (i.e. VOCAs), including speech generating devices, in relation to other aided and unaided methods of communication. Materials and Method: A total of 122 parents of children with AS,…

The clinical evaluation of an infant with motor delay, muscle weakness, and/or hypotonia would improve considerably if muscle strength could be measured objectively and normal reference values were available. The authors developed a method to measure muscle strength in infants and tested 81 typically developing infants, 6-36 months of age, and 17…

Purpose: In this article, the authors address the hypothesis that the severe and persistent speech disorder reported in persons with galactosemia meets contemporary diagnostic criteria for Childhood Apraxia of Speech (CAS). A positive finding for CAS in this rare metabolic disorder has the potential to impact treatment of persons with galactosemia…

Approximately 30,000 people in the United States have cystic fibrosis (CF), and each year around 1,000 new cases are diagnosed. About one half of this population consists of school-age youth. With an understanding of the psychosocial and mental health factors surrounding CF, school psychologists are well positioned to support children and…

Background: Executive function is very important in the children's overall development. The goal of this study was to assess the executive function in children with intellectual disability (ID) through the use of the Behavior Rating Inventory of Executive Function (BRIEF) teacher version. An additional goal was to examine the differences in…