Background: Children with Prader-Willi Syndrome (PWS) display impaired pretend play abilities, reflective of broader social-cognitive challenges. Pretend play interventions for children with PWS demonstrate preliminary efficacy for improving cognitive and affective processes in play. It is unknown which specific intervention strategies, such as…

Although the last decade has welcomed evidence that individuals with Rett syndrome (RTT) can communicate using alternative and augmentative communication (AAC), less is known about effective procedures for teaching various component skills required for expressive communication of individuals with complex communication needs. The purpose of the…

The vast majority of individuals with Rett syndrome do not utilize natural speech and therefore require alternative and augmentative communication (AAC). The purpose of the current study was to investigate the use of high- and low-tech AAC modalities by three individuals with Rett syndrome given similar instruction for using both modalities. For…

Sleep problems are prevalent among autistic children and children with Rare Genetic Neurodevelopmental Disorders (RGND). Behavioral interventions are commonly used to treat sleep problems, with most involving extinction. While effective, the occurrence of a response burst (i.e., temporary worsening of the behavior) can result in a temporary…

Rett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based…

Rett syndrome is a severe neurodevelopmental disorder that results in both motor and language skill regression with a wide range of severity in symptom presentation. Communication intervention may be particularly challenging for this population due to the decline in speech, motor skills, and motor planning difficulties that characterize the…

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…

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…

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…

Many people with intellectual disabilities (ID) depend on caregivers for pain identification and pain management decisions. Therefore, the aim was to explore caregivers' experience with pain in Prader-Willi syndrome (PWS), Williams syndrome (WS), and Fragile-X syndrome (FXS). A questionnaire was developed to gather third-party reporting of mainly…

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…