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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome

The genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.

A qualitative investigation of recovery after femoral fracture in Rett syndrome

This study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.

Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

This study aimed to validate measures of sedentary time in individuals with Rett syndrome.

Intellectual disability and psychotic disorders in children: Association with maternal severe mental illness and exposure to obstetric complications

Maternal severe mental illness and exposure to obstetric complications contribute separately to the risk of intellectual disability

Risk of Developmental Disorders in Children of Immigrant Mothers: A Population-Based Data Linkage Evaluation

Increased risk of autism spectrum disorder with intellectual disability and cerebral palsy with intellectual disability for mothers of some foreign-born groups

Intellectual disability in children conceived using assisted reproductive technology

The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002

Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy

Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services

This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem

Down Syndrome

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.