Background: Children with 22q11.2 deletion syndrome (22q11.2DS) are reported to have socio-communicative impairments. Although many of these children are diagnosed with intellectual disability (ID) and/or autism spectrum disorder (ASD), these populations are seldom used as control groups. Hence, information regarding syndrome-specific…

Background: This phenomenological study explores the perceptions, hopes, and dreams of relationships and parenting of women with a genetic intellectual disability. Method: Five women with both 22q11.2 deletion syndrome (22q11DS) and intellectual disability took part in semistructured interviews. Their subjective interpretations were analysed using…

This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7-13) and Williams syndrome (WS, n = 8, ages 6-12). The researchers re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid…

Background: Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is a genetic syndrome characterised by a unique cognitive profile. Individuals with the syndrome present several non-verbal deficits, including visual memory impairments and atypical exploration of visual information. In this study, we seek to understand how visual attention may…

Background: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that…

Background: Numerous studies have assessed the socio-cognitive profile in Williams syndrome (WS) and, independently, in 22q11.2 deletion syndrome (22q11.2DS). Yet, a cross-syndrome comparison of these abilities between individuals with these two syndromes with known social deficits has not been conducted. Methods: Eighty-two children participated…

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…

Background: People with 22q11.2 deletion syndrome (DS) are assumed to be especially vulnerable to developing mental illness such as psychosis. Aim: The study was established to contribute to knowledge about metyrosine medication in patients with 22q11.2 DS and psychosis. Methods: A case study was established including a woman with intellectual…

The expansion of school-based sexuality education in most countries has taken place with a strong focus on conveying information about sexual and reproductive health. While this is important so too is addressing the actual social contexts where relationships develop and the normalcy of pleasurable sexual and affective encounters. This is not only…

Background: Social vulnerability refers to the ways in which an individual is at risk of being victimised. The Test of Interpersonal Competences and Personal Vulnerability [TICPV] is an Australian assessment tool designed for adults with intellectual disabilities (ID) [Wilson et al. (1996). Vulnerability to criminal exploitation: Influence of…

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…

This study investigates the nature of the social interaction profiles observed among youth with intellectual disabilities (ID), defined while considering their relationships with their parents, peers, and teachers, as well as the implication of these profiles for self-esteem, aggressive behaviors, and prosocial behaviors. A sample of 393 youth…

Background: Many individuals with intellectual disabilities and their caregivers struggle to provide accurate and complete information to healthcare providers. Method: The present authors provided personal medical information cards (PMICs) containing contact and medical information to 52 Canadian adults with 22q11.2 deletion syndrome, a genetic…

Background: Many children experience delayed or missed identification of an intellectual disability diagnosis, meaning that key opportunities for early educational intervention may be lost. Methods: Semi-structured interviews were used to explore the views of teachers, parents, and clinicians (n = 22), about the use of the Child and Adolescent…

Teaching travel skills is an important aspect of special education transition services to overcome barriers to community integration for young adults with intellectual and developmental disabilities (IDD). Ridesharing applications are a viable transportation option to consider to promote independence. In this study, four young adults with IDD,…