Background: Social communication skills are critical for full participation in social activities in primary life contexts for adolescents and young adults with neurodevelopmental disorders. Method: Two young adults with Prader Willi syndrome participated in an online socialisation programme with elderly and adolescent conversational partners. We…

Individuals with autism spectrum disorder present with difficulties in social communication, restricted interests or behaviors and other co-morbidities. About 2 to 10% of cases of autism have a genetic cause, and Fragile X Syndrome (FXS) is reported in 0 to 6.5% of individuals with autism. However, the FXS and premutation prevalence among Filipino…

Individuals with Sex Chromosome Trisomies (SCT; XXX, XXY, XYY) have an increased vulnerability for developing challenges in social adaptive functioning. The present study investigates social interaction behavior in the context of varying social load, and Autism Spectrum Disorder (ASD) symptomatology in young children aged 1-7.5 years old, with SCT…

Background: 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome. Parents of emerging adults with 22q11DS have an intense and ongoing involvement in their child's life. This study explores the lived experience of parents in relation to their child becoming independent and establishing intimate relationships. Method:…

Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment,…

Engagement for children with mitochondrial disorder is not self evident. To develop personalised and value-based care for this population, we require knowledge about their perspectives and values with regards to everyday activities. To gain insight into children's perspective on activities by (1) asking what activities they perform, (2) how they…

Children with Coloboma, Heart defects, Atresia choanae, Restricted growth, Genital hypoplasia, and Ear abnormalities (CHARGE) syndrome have many sensory impairments that can cause delays in motor development impacting physical activity, health, and quality of life. However, only one limited study has investigated motor competence in children with…

Episodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populations, including autism spectrum disorders (ASD) and 22q11.2 deletion syndrome (22q11DS). Therefore, the relationship between EFT, AP and SF…

We further extended the use of a microswitch-cluster technology to promote object manipulation and to reduce tongue protrusion in seven children with Angelman syndrome. Study I included seven participants with severe to profound developmental disabilities. An ABB[superscript 1]AB[superscript 1] experimental sequence was implemented. During the…

Children with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism. Here we evaluate HRQoL in…

This paper explores the first-hand accounts of disablist school violence experienced by young people with dwarfism during their secondary education in the United Kingdom. A narrative, qualitative methodology was utilised, which turned nineteen young people with dwarfism into the storytellers of their schooling experiences. Drawing together a…

Movement and mobility are a significant aspect of early childhood. Assistive technology and adapted mobility can be a critical aspect of the early intervention process by promoting access to play, the environment, social opportunities, and development of visual perceptual and navigational skills. This case study describes the design, materials,…

The relationship between sensory processing and ASD-like and associated behaviors in patients with Prader-Willi Syndrome (PWS) remains relatively unexplored. Examining this relationship, 51 adults with PWS were administered the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), Short Sensory Profile (SSP-J), Food-Related…

Phelan-McDermid syndrome (PHMDS)/22q13.3 deletion syndrome is a rare genetic disorder associated with autism spectrum disorder (ASD), intellectual disability (ID), and bipolar disorder. While numerous cases have been reported describing successful pharmacological treatment of bipolar disorder in PHMDS, there is currently little guidance available…

The racialized history of sickle cell disease (SCD) continues to contribute to racial disparities in healthcare and education. In the context of the racialized history of SCD, we begin by outlining subtypes of SCD and explaining that SCD is associated with chronic pain, silent cerebral infarct, overt stroke, and poor overall well-being--all of…