Symptoms of autism are frequent in males with fragile X syndrome (FXS), but it is not clear whether symptom profiles differ from those of nonsyndromic ASD. Using individual item scores from the Autism Diagnostic Inventory-Revised, we examined which current symptoms of autism differed in boys with FXS relative to same-aged boys diagnosed with…

Background: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). Aims: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound…

The purpose of this study was to evaluate the effectiveness of an iPad® as a prompting device for teaching five daily living skills to three young adults with disabilities. Identified target tasks were (a) making spaghetti, (b) cleaning the dining room, (c) making macaroni and cheese, (d) cleaning the front porch, (e) cleaning the back porch, (f)…

Introduction: The purpose of this study was to gain information from parents in the United States about their children with albinism. The first article (in this issue) focused on the data from this study that addressed medical and low vision care. This article focuses on information and services related to the education of children with albinism.…

Purpose: The current study examined semantic and phonological processing in individuals with Williams syndrome (WS). Previous research in language processing in individuals with WS suggests a complex linguistic system characterized by "deviant" semantic organization and differential phonological processing. Method: Two experiments…

Cognitive and behavioral correlates of molecular variations related to the FMR1 gene have been studied rather extensively, but research about the long-term outcome in individuals with fragile X spectrum disorders remains sparse. In this review, we present an overview of aging research and recent findings in regard to cellular and clinical…

A variety of technology-aided programs have been developed to help persons with congenital or acquired multiple disabilities access preferred stimuli or choose among stimulus options. The application of those programs may pose problems when the participants have very limited behavior repertoires and are unable to use conventional responses and…

Problem behavior of 52 children with Williams syndrome ages 6 to 17 years old was examined based on both parent and teacher report. Generally good inter-rater agreement was found. Common areas of problem behavior based both on parent and teacher report included attention problems, anxiety difficulties, repetitive behaviors (e.g., obsessions,…

One of the crosscutting concepts in science is cause and effect. A disease model can provide understanding of cause and effect, as teachers scaffold student thinking from molecular changes in the DNA to visible traits in the organism. The project described in this article uses Pompe disease, a rare recessive disorder, as a model of cause and…

The aim of the present study was to compare visuospatial working memory performance in 18 individuals with Williams syndrome (WS) and 18 typically developing (TD) children matched for nonverbal mental age. Two aspects were considered: task presentation format (i.e., spatial-sequential or spatial-simultaneous), and level of attentional control…

This article is targeted to faculty teaching race and ethnicity, racism, diversity, and multicultural courses. Many students equate race with skin color. The premise of this article is that to teach students about the social construction of race, teachers must first know enough science to teach students that race is not biological. This article…

The objectives were to describe the demographic characteristics of children with Fragile X syndrome (FXS) and to determine predictors of attendance at Fragile X (FX) clinics. Findings from the Community Support Network (CSN) and Our Fragile X World (OFXW) samples showed that children who attended FX Clinics were mostly male, high-school aged or…

Apert syndrome is a rare condition, with a birth prevalence of approximately one in 65,000. This article provides an up-to-date review of the literature on Apert syndrome from a variety of perspectives, ranging from surgical management to personal accounts. The purpose of the review is to provide a holistic description of the syndrome which should…

Using a single case design, a parent-mediated spoken-language intervention was delivered to three mothers and their school-aged sons with fragile X syndrome, the leading inherited cause of intellectual disability. The intervention was embedded in the context of shared storytelling using wordless picture books and targeted three empirically derived…

Epidermolysis Bullosa (EB) is a chronic disease, some types of which may have morbidity and mortality. That is why the patients must receive multidisciplinary care in case any complications arise. Families must be informed about the disease, about home care and receive genetic counselling. The importance of genetic counselling cannot be stressed…