Sickle cell disease (SCD) is a lifelong chronic medical condition diagnosed through screening at birth. Complications of SCD can significantly burden affected children as they learn to manage their health needs. This study sought to investigate the perceived obstacles that may hinder children with SCD from receiving the necessary support and…

Examining community views on genetic/epigenetic research allows collaborative technology development. Parent perspectives toward genetic/epigenetic testing for autism spectrum disorder (ASD) are not well-studied. Parents of children with ASD (n = 131), non-ASD developmental delay (n = 39), and typical development (n = 74) completed surveys…

Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and…

Introduction: The purpose of this study was to gain information from parents in the United States about their children with albinism. The article focuses on information and services related to medical care and low vision care. Methods: An online questionnaire was used to collect data, and parents had opportunities to submit additional information.…

School psychologists are asked to provide a number of different services in schools, including evaluating and providing recommendations to educators and parents on children and adolescents with rare genetic conditions. One genetic disorder with physical, cognitive, and behavioral features is Prader-Willi syndrome (PWS). PWS is a unique genetic…

ADHD is a disability characterised by hyperactivity, impulsivity and difficulties maintaining attention. Despite extensive research on ADHD, the effects of existing treatments are moderate and inconsistent. Knowledge regarding children's and adolescents' everyday experiences of Attention Deficit Hyperactivity Disorder (ADHD) and their…

Clinical guidelines recommend chromosomal microarray analysis (CMA) for all children with autism spectrum disorders (ASDs). We explored the test's perceived usefulness among parents of children with ASD who had undergone CMA, and received a result categorized as pathogenic, variant of uncertain significance, or negative. Fifty-seven parents…

Objectives: Children and adolescents with chronic physical health conditions are also at elevated risk of poor mental health; the mechanisms to account for this relationship remain unclear. In this narrative review, we used the socio-ecological model to examine research on experiences of school for children with chronic health conditions and how…

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…

The purpose of this study was to determine (a) the general knowledge bases demonstrated by school-based speech-language pathologists (SLPs) in the area of genetics, (b) the confidence levels of SLPs in providing services to children and their families with genetic disorders/syndromes, (c) the attitudes of SLPs regarding genetics and communication…

This study investigated the development of novel metaphor and metonymy comprehension in both typically developing (TD) children and individuals with Williams syndrome (WS). Thirty-one TD children between the ages of 3;09 and 17;01 and thirty-four individuals with WS between the ages of 7;01 and 44 years old were administered a newly developed task…

This article describes the findings of a qualitative study on knowledge, beliefs, attitudes, and practices towards children with spina bifida and hydrocephalus in four regions of Uganda. Focus group discussions and semi-structured interviews were held with parents of children with spina bifida and hydrocephalus, policy-makers, and service…