Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X…

22q11.2 deletion syndrome is a rare multisystem genetic disorder with over 200 associated characteristics, occurring in various combinations and severity. Extensive biomedical research has been undertaken on 22q11.2 deletion syndrome, however, there is a dearth of research on families' experiences of managing a family member with this condition.…

Chromosomal abnormalities are now considered a common cause of intellectual disability. With increased genetic testing, phenotyping and technological advancements, many new syndromes have been identified. This review sought to explore parental stress and adjustment in the context of rare genetic syndromes to evaluate their clinical impact. A…

This review aimed to investigate the use of the Cambridge Neuropsychological Automated Testing Battery (CANTAB) for people at risk of cognitive impairment, especially those born with Down syndrome and those born preterm. Six databases were searched according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards,…

Persons with rare, epilepsy-related disorders often have intellectual disability and need long-term care. Informal and formal caregivers need information in order to care for the persons in a safe way. Aims: The aims of this review were: (1) to obtain an overview of caregiver-reported information needs; and (2) to investigate if there are…

Increased attention is arising on the delivery of remote cognitive interventions, which allow performing exercises in everyday settings, favouring rehabilitation continuity. The present study offers an overview of remote cognitive training programs for children with congenital brain malformation or genetic syndrome affecting the central nervous…

Background: The prevalence of anxiety disorders is high in 22q11.2 deletion syndrome (22q11.2DS), an under-recognized multisystem condition. Prominent features include an array of somatic, cognitive, and neuropsychiatric disorders. This case study reports for the first time on the application of individual cognitive behavioral therapy in…

Aims: To assess the effectiveness of iPad use on the attention span of a child with Smith Magenis Syndrome (n = 1), compared to attention span while working on the same tasks manually. Methods: An AB design with a baseline and an intervention phase was used. Three manual tasks were chosen for the baseline, which matched the participant's…

Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age,…

This cross-sectional and descriptive study examined the family quality of life (FQoL) among 72 Brazilian families who have children with Williams syndrome, a rare genetic disorder in which most individuals have an intellectual disability, usually mild. Data were collected using sociodemographic and clinical data forms and the Beach Center FQoL…

The experience of having a rare disorder was summarised in a large study as 'falling outside the vast field of knowledge of the professionals'. Parents (31 mothers and 17 fathers) of 32 persons with Smith-Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes. Four themes…

Non-consensual sterilization is one of the characteristic historical abuses that took place mainly in the first half of the 20th century. People with intellectual disability (ID) were a prime target as part of the ideology of negative eugenics. In certain jurisdictions, laws were in force for several decades that permitted sterilization without…

In Florida, the Agency for Persons with Disabilities provides waivers for adults with the following types of disabilities: intellectual disability, autism spectrum disorder, cerebral palsy, spina bifida, Down syndrome, and Prader-Willi syndrome. This review examined the peer-reviewed literature to indicate and assess the common needs for…

A naturalistic observational single case study was carried out to investigate the form and function of private speech (PS) in a young man with Dandy-Walker variant syndrome and trisomy 22. Video recordings were observed, transcribed and coded to identify all combinations of type and form of PS. Through comparison between theories of PS and the…

Knowledge and understanding of how eugenics has historically affected the lives of people with intellectual disabilities is vital if professionals are to mount an effective defence against its contemporary influences. An online survey of European providers of health, social care and pedagogical education and training courses was undertaken to find…