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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.

Perspectives of parents are integral to the assessment of communication abilities and inform communication interventions for girls and women with Rett Syndrome

Bone mass and density are low in females with Rett syndrome.

Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families

This study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome

A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome

This paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...

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.

This study aimed to describe overall survival and adult health in those with Rett syndrome.