Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20)…

Background: Phelan-McDermid Syndrome (PHMDS)/22q13.3 deletion syndrome is a rare genetic disorder linked to Autism Spectrum Disorder (ASD) and Intellectual Disability (ID). There are reports of PHMDS co-occurring with psychiatric disorders, but little is known about the assessment of such disorders in PHMDS. Method: A case study focusing on a…

It is well-recognized that measurement options for diagnosing and monitoring children with neurogenetic syndromes (NGS) associated with moderate to severe intellectual impairment are limited (Berry-Kravis, Dev Med Child Neurol 10.1111/dmcn.13018, 2016), and caregivers experience significant concerns regarding the assessment process. However to…

Although informed consent is critical for all research, there is increased ethical responsibility as individuals with intellectual or developmental disabilities (IDD) become the focus of more clinical trials. This study examined decisional capacity for informed consent to clinical trials in individuals with fragile X syndrome (FXS). Participants…

Sickle cell disease is a very common disease throughout the world. We used it to contextualize probability for upper elementary school students. Using Punnett squares, activities guide students' evaluation of inheritance using theoretical probability. Then, students perform trials using tools to compare theoretical and experimental probabilities.

Objective: This study aimed to investigate the relationship between Cognitive Disengagement Syndrome (CDS) symptoms in children/adolescents and their parents within the Turkish population, examining the association with co-occurring ADHD symptoms, peer/social relationships, and total difficulties. Method: The study included 229 parents aged 18 to…

The aim of this study is to use Q methodology to explore how school staff experience the behaviours of children with Smith-Magenis Syndrome (SMS) in school and how they manage working with these children. Q methodology utilises by-person factor analysis to investigate subjectivity. Fourteen school staff of students with SMS in Norway participated…

This pilot study sought to identify potential markers of improvement from pre-post treatment in response to computerized working memory (WM) training for youth (ages 8-18) with autism spectrum disorder (ASD) and comorbid intellectual disability (ID) in a single arm, pre-post design. Participants included 26 children with ASD and 18 with comorbid…

Autism spectrum disorders and Williams syndrome exhibit quite opposite features in the social domain, but also share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative…

Purpose: Recording young children's vocalizations through wearables is a promising method to assess language development. However, accurately and rapidly annotating these files remains challenging. Online crowdsourcing with the collaboration of citizen scientists could be a feasible solution. In this article, we assess the extent to which citizen…

Angelman syndrome (AS) is a rare neurogenetic disorder that is characterized by myriad genetic, physical, and behavioral abnormalities (Buiting et al., 2016; Thibert et al., 2013; Wheeler et al., 2017). Due to complex developmental delays and intellectual disability associated with AS, including gross/fine motor delays, lack of speech, and…

A subset of mothers who carry the "FMR1" premutation may express a unique phenotype. The relationship between the "FMR1" phenotype and mother-child interaction in families with fragile X-associated disorders has not been well characterized, despite the importance of high-quality mother-child interaction for child development.…

Accurate representation of autism spectrum disorder (ASD) in fragile X syndrome (FXS) is necessary for the field. We examined classifications of ASD using three approaches--Autism Diagnostic Observation Schedule (ADOS-2; Lord et al. 2012), Childhood Autism Rating Scale (CARS2-ST; Schopler et al. 2010), and Vineland Adaptive Behavior Scales…

This study investigated which specific behavioural issues is best associated with adaptive functioning in three specific genetic syndromes. Behavioural issues were assessed in neurotypical (NT) (n = 43), Tuberous sclerosis complex (TSC) (n = 19), Down syndrome (DS) (n = 24) and Fragile X syndrome (FXS) (n = 23) participants ranging from 3 to…

Background: Parenting children and young adults with intellectual disabilities, including individuals with fragile X syndrome and Down syndrome, is challenging, joyful, and complicated. Exploring how parents talk about their children, and the quality of the parent/child relationship can provide insight into the home environment and interactional…