Background: Although lives of parents of girls with Rett syndrome (RTT) are centred on the process of care, in the current literature their perceived levels of stress have been rarely investigated. Methods: We analysed levels of stress in a sample of 79 fathers and mothers parenting girls with RTT, who were required to compile the Parenting Stress…

This study is one of the first to explore the use of (drawn) visual vignettes in qualitative research in Africa. The vignette method was used to discuss the sensitive topic of people's attitudes towards people with albinism in Tanzania among high school students. Focus was on two key questions: (i) To what extent was the vignette method…

Since the 1990s an increasing body of genetic studies of Roma people has been conducted and used to understand their lives. This includes research on health issues such as genetic predispositions to obesity or high cholesterol levels and the migration of European Roma from the Indian subcontinent. Such work needs to be contextualised within the…

This study examined parents' perceptions of constraints that impact the attainment of independent walking in children with CHARGE syndrome. This syndrome is a multifaceted syndrome including a degree of vision and hearing loss at birth. The Dynamic Systems Theory (DST) was used as an ecological lens to provide insight into the complexity of issues…

There are no published studies describing educational experiences for girls with Rett syndrome. Given the extensive educational needs associated with Rett syndrome, it is important to understand how families perceive their daughters' educational experiences to inform education service provision. The purpose of this study was to survey parents of…

In the last decade, international efforts have been focused on public engagement, to foster public involvement in the affairs and decisions of policy-makers and scientists, in order to open a mutual sharing of knowledge, values and beliefs. Our study describes a pilot experience of public engagement in a fringe field of biomedical research which…

Sleep plays a key role in the consolidation of newly acquired information and skills into long term memory. Children with Down syndrome (DS) and Williams syndrome (WS) frequently experience sleep problems, abnormal sleep architecture, and difficulties with learning; thus, we predicted that children from these clinical populations would demonstrate…

Purpose: Infant siblings of children with autism spectrum disorder (ASIBs) and infants with fragile X syndrome (FXS) are both at risk for developing autism spectrum disorder (ASD) and communication disorders; however, very few studies have examined 1 of the earliest forms of intentional communication in infants from these groups: gestures. This…

Background: Caregiver skill training and support programs are traditionally offered to adult caregivers, leaving out the over 1 million children and youth who provide care ("young caregivers"). Skill building and support programs are critical to caregiver and patient well-being and can be informed by the knowledge of current caregiver…

Purpose: Congenital amusia is an inborn neurogenetic disorder of fine-grained pitch processing. This study attempted to pinpoint the impairment mechanism of speech processing in tonal language speakers with amusia. We designed a series of perception tasks aiming at selectively probing low-level pitch processing and relatively high-level…

The present longitudinal study investigated the hypothesis that early musical skills (as measured by melodic and rhythmic perception and memory) predict later literacy development via a mediating effect of phonology. We examined 130 French-speaking children, 31 of whom with a familial risk for developmental dyslexia (DD). Their abilities in the…

Purpose: Cluttering is a fluency disorder that has been noted clinically in individuals with fragile X syndrome (FXS). Yet, cluttering has not been systematically characterized in this population, hindering identification and intervention efforts. This study examined the rates of cluttering in male young adults with FXS using expert clinical…

Students with sex chromosome aneuploidies (SCAs) are at increased risk for learning disabilities and often require individualized supports in the school setting. Parents of students with rare disorders such as SCAs possess a unique understanding of their child's educational experiences and play a crucial role in the development of successful…

Purpose: Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmorphisms, motor problems, developmental delay, mild intellectual disability (ID), socialization…

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…