Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…

Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to inform intervention strategies. Nineteen parents/carers who observe skin picking shown by the…

Aims: To assess the effectiveness of iPad use on the attention span of a child with Smith Magenis Syndrome (n = 1), compared to attention span while working on the same tasks manually. Methods: An AB design with a baseline and an intervention phase was used. Three manual tasks were chosen for the baseline, which matched the participant's…

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)…

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."…

Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder associated with social cognitive challenges, and pretend play has been demonstrated as a tool to achieve developmental goals. Following previous report on feasibility and acceptability of a remote, play-based parent-training program (Zyga, Russ, & Dimitropoulos, 2018), we now…

Purpose: This study examined relationships among family characteristics, caregiver change in use of strategies, and child growth in spoken language over the course of a parent-implemented language intervention (PILI) that was developed to address some of the challenges associated with the fragile X syndrome (FXS) phenotype. Method: Participants…

Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS,…

Noonan syndrome (NS) is a common genetic disorder that can cause a vast array of health conditions. Characteristics of NS include specific facial features as well as a higher chance of developing congenital heart disease, failure to thrive, and vision abnormalities. These deficits may manifest as behavioral and emotional difficulties, leaving…

This protocol presents the plan for a systematic review that investigates the effect of oral language interventions for children with intellectual disability (ID), language disorder (LD), autism spectrum disorder (ASD), Down syndrome (DS), Williams syndrome (WS), and fragile X syndrome (FXS). Language development is a highly frequent area of…

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…

Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…

Background: Recent studies have shown that it is possible to foster affective involvement between people with congenital deafblindness and their communication partners. Affective involvement is crucial for well-being, and it is important to know whether it can also be fostered with people who have congenital deafblindness and intellectual…

Research has shown that children with Prader-Willi syndrome (PWS) have social-cognitive challenges and decreased quality parent-child interactions. However, given the low prevalence rate, developing interventions for children with PWS is faced with the significant challenge of enrolling enough participants for local studies. To better understand…

Purpose: The aim of this study was to investigate language growth in individuals with fragile X syndrome (FXS) from early childhood to adolescence and the influence of maternal responsivity on language growth. Method: We conducted a longitudinal analysis of language development in 55 youths (44 males, 11 females) with FXS. Data collection spanned…