Background: Neurodivergence has been established as associated with a significant number of co-occurring physical conditions, particularly for autistic individuals who are at risk for increased pain, hypermobility (including Ehlers-Danlos Syndrome) and gastrointestinal problems. However, data, so far, has been focused on adults and generally…

Purpose: Although Fuchs corneal dystrophy (FCD) is considered an eye disease, a small number of studies have identified genes related to both FCD and hearing loss. Whether FCD is related to hearing loss is unknown. Method: This is a case-control study comparing pure-tone audiometry hearing thresholds in 180 patients with FCD from a hospital-based…

Educators will be tasked with planning for children with many different needs. The aim of this article is to provide specific information about Rubinstein-Taybi Syndrome (RTS) to those who may be interested. This syndrome is rare and has not been well researched. This article contains information about the physical, cognitive, and developmental…

To date, health related quality of life (QoL) has not been systematically evaluated in youth with fragile X syndrome (FXS), the most common single gene cause of autism and the most common inherited form of developmental disability. We describe QoL data gathered using the Pediatric Quality of Life Inventory (PedsQL) completed online by 364 parents…

Introduction: In this study, the author examined the association between general self-efficacy (GSE) and employment status in working-age adults with retinitis pigmentosa (RP; N = 183). The author further examined the associations between employment status and factors that were previously found to be linked to employment outcomes in individuals…

This brief report examines the implementation of dietary intervention utilizing the specific carbohydrate diet (SCD) for the management of gastrointestinal issues in a 4 year old boy diagnosed with Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS). Data relating to anthropometrics, dietary intake, blood markers, gastrointestinal (GI)…

Infantile spasms (IS) is a rare epileptic disorder occurring in children under the age of one that can often lead to severe developmental delays throughout life. Though over 200 etiologies have been associated with this disorder, many cases remain unexplained. Research into the etiology of IS has implicated causes such as exposure to prenatal…

Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother--child relationship.…

Background: There is a need to systematically compare and contrast mortality predictors and disparities in people with intellectual disabilities (ID) for global prevention strategy development. Method: Bibliographic databases and grey literature were searched using systematic review methodology and the machine learning tool "Abstrackr."…

Spinal Muscular Atrophy is a genetic, degenerative disorder, in which individuals become unable to engage in typical motor activities, including speech. The outcome for the most common type of SMA (Type 1), has previously been death before the age of 2, but new medical improvements are showing promising results for life longevity. Research has…

Following on earlier examinations of biology high school textbooks' handling of race, this study examines eleven biology textbooks, intended for US high school use and published between 2014 and 2019. It offers a close reading of these textbooks' treatment of four topics that have been associated with race: genetic disorders, human origins, skin…

In the present study, language performance on standardized assessments (e.g., overall verbal performance, receptive and expressive vocabulary) and spontaneous language produced in play was compared between preschool-aged boys with autism spectrum disorder ([subscript n]ASD, n = 25) and boys with fragile X syndrome (FXS, n = 16). At the…

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…

Sickle cell disorder (SCD) is a serious blood disorder that affects millions of people worldwide. It is particularly prevalent in Africa. The condition can be associated with physical and psychological difficulties. There are no studies of psychological interventions for people affected by SCD in Africa where the majority of affected persons live.…

In language learning, aided language modeling refers to the method by which communication partners provide models of the communication system used by individuals with complex communication repertoires that involving both symbols and speech. Providing aided language models creates opportunities for individuals with complex communication repertoires…