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Down syndrome, also known as Trisomy 21, is one of the most common chromosome abnormalities in humans. It occurs when a child's cells end up with 47 chromosomes instead of the usual 46. Down syndrome causes intellectual disability and other physical and learning challenges.
Tourette syndrome is a neurodevelopmental disorder characterised by uncontrollable movements and vocalisations known as tics.
Systematic sequencing of all X-chromosomal genes in patients with genetic evidence for X-chromosome locus involvement may resolve 58% of Fragile X-negative cases
The deficits associated with intellectual disability (ID) and autism spectrum disorder (ASD)place a burden on their co-residing families which may impact...
Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular...
Mothers of a child with autism spectrum disorder have more psychiatric disorders after the birth of their child.
To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia...
Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.
This study describes, from the perspective of parents, how females with Rett syndrome communicate in everyday life and the barriers and facilitators to...
This paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.