Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi…

This article explores the potential contribution of modern genetic methods and findings to education. It is familiar to hear that the "gene" for this or that behavior has been discovered, or that certain skills are "highly heritable." Can this help educators? To explore this question, we describe the methods used to relate…

In communities with an increased prevalence of hereditary deafness, social, and linguistic adaptations are found in response. Aulbers (1959) describes a high prevalence of deafness in a fishing village on the Dutch coast: Katwijk aan Zee. This article aims to assess the current prevalence of deafness in Katwijk, as well as the current sign…

The broader autism phenotype (BAP) is a term applied to individuals with personality and cognitive traits that are similar to but milder than those observed in autism spectrum disorder (ASD). Subtle autistic traits in the core diagnostic domains of social communication and rigid behavior were described in family members of people with an ASD even…

Various theorists have argued for the importance of a developmental approach to studying typical development (Karmiloff-Smith, 1998; Lerner, 1996; Lerner & Hood, 1986; Masten & Cicchetti, 2010; Overton, 2014; Overton & Lerner, 2012, 2014), and there are reasons to believe that this issue is even more critical to the study of…

An increase in the number of children with speech-language pathology also having a genetic disorder imposes the need for speech and language pathologists (SLPs) to have sufficient knowledge about genetic basis of speech-language disorders. Research aim was to estimate in Serbian SLPs different aspects of theoretical and practical knowledge about…

Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. Methods: The…

The primary objectives of the current prospective longitudinal study were to (a) describe social functioning outcomes and (b) identify childhood predictors of social functioning in young adults with (22q11.2DS). Childhood predictors of young adult social functioning were examined. Family environment and parental stress in adolescence were…

The new Special Educational Needs and Disability legislation in the Children and Families Act 2014 intends to raise the aspirations of young people with special educational needs and their families, and improve their life outcomes. But what do raised aspirations and better outcomes look like for young people who have a life-limiting impairment?…

Phelan-McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the "SHANK3" gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of…

Background: Social difficulties are often noted among people with intellectual disabilities. Children and adults with 22q.11.2 deletion syndrome (22q11DS) often have poorer social competence as well as poorer performance on measures of executive and social-cognitive skills compared with typically developing young people. However, the relationship…

Children with Prader-Willi syndrome (PWS) are at risk for autism spectrum disorder (ASD), including pervasive social deficits. While play impairments in ASD are well documented, play abilities in PWS have not been evaluated. Fourteen children with PWS and ten children with ASD were administered the Autism Diagnostic Observation Schedule (ADOS)…

Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein-Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals…

Schools in Australia are required to promote equitable access to education and provide support services to students with chronic health conditions (CHCs). This qualitative study was conducted to explore stakeholders' experiences and perceptions regarding school-based support. In-depth interviews were conducted with 38 parents of upper secondary…

According to the Multiple Deficit Model, comorbidity results when the genetic and environmental risk factors that increase the liability for a disorder are domain-general. In order to explore the role of domain-general etiological risk factors in the co-occurrence of learning-related difficulties, the current meta-analysis compiled 38 studies of…