Background: The present authors aimed (a) to objectively quantify spontaneous physical activity (PA) in adult patients with Prader-Willi syndrome (PWS) and (b) to evaluate the transferability of a home-based exercise training programme in these patients. Method: Physical activity was compared between 10 adult women with PWS (PWS group) and 20…

Translational research means different things to different people. In the biomedical research community, translational research is the process of applying knowledge from basic biology and clinical trials to techniques and tools that address critical medical needs such as new therapies. Translational research then is a "bench to bedside"…

Adults with Down syndrome are at high risk for Alzheimer's disease (AD), with most individuals developing clinical dementia by their late 60s. This increased risk for AD has been attributed, at least in part, to triplication and overexpression of the gene for amyloid precursor protein (APP) on chromosome 21, leading to elevated levels of amyloid…

Smith-Magenis syndrome (SMS) is a rare genetic syndrome. Students with SMS have a neurobehavioural phenotype which has been characterised as challenging for both parents and teachers. Challenging behaviour often has a negative impact on the person's learning ability and is a hindrance in the learning environment. Challenging behaviour also impacts…

Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we…

Broader phenotypes associated with genetic liability, including mild difficulties with pragmatic language skills, have been documented in mothers of children with autism spectrum disorder (ASD) and mothers of children with fragile X syndrome (FXS). This study investigated the relationship between pragmatic difficulties and indicators of maternal…

Autism Spectrum Disorders (ASD) and Williams Syndrome (WS) are frequently characterized as mirror conditions in the socio-cognitive domain, with ASD entailing restrictive social interests and with WS exhibiting hypersociability. In this review paper, we examine in detail the strong points and deficits of people with ASD or WS in the…

PWS Smart-Start is a behavioral caregiver training program developed specifically for caregivers of children with Prader-Willi syndrome (PWS) ages 3 to 14. The purpose of the current study was to evaluate the acceptability and preliminary efficacy of the program. Thirty-four caregivers of children with PWS received the PWS Smart-Start training…

This pilot study investigates the feasibility and assesses the impact of "Lactobacillus plantarum" PS128 probiotics on the neurological function in Rett syndrome. We conducted a randomized, double-blind, and placebo-controlled trial on Rett syndrome with MECP2 mutation aged between 1 and 50 years in Taiwan. In this pilot study,…

Myhre syndrome (MS) is a connective tissue disorder with multisystem involvement with or without intellectual disability. In most cases SMAD4 mutations are reported. To date, 55 individuals have been molecularly confirmed. Autism has been proposed among associate clinical features of MS but no standardized diagnosis was available in previous…

Background: Significant advances in the treatment of Cystic Fibrosis (CF) have extended life expectancy, increasing the number of CF caregivers who deliver demanding daily treatment regimens and manage uncertainty. With the impact these changes have on CF caregivers, it is critical to understand CF caregiver quality of life (QoL). Purpose: To…

We examined the cognitive, language, and instructional predictors of early word-reading ability in a sample of children with Williams syndrome longitudinally. At Time 1, sixty-nine 6-7-year-olds (mean age = 6.53 years) completed standardized measures of phonological awareness, visual-spatial perception, vocabulary, and overall intellectual…

Aided augmentative and alternative communication (AAC) modeling is an important approach to facilitating language learning for individuals with complex communication repertoires. This study examines the implementation of this approach during COVID-19 virtual schooling. Key implementation challenges are identified, along with implications for…

Purpose: This study compared and characterized the tense and agreement productivity of boys with fragile X syndrome (FXS), children with developmental language disorder (DLD), and children with typical development (TD) matched on mean length of utterance. Method: Twenty-two boys with FXS (M[subscript age] = 12.22 years), 19 children with DLD…

We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face…