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Research

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

Research

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.

Research

Functional abilities in children and adults with the CDKL5 disorder

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities

Research

Lack of replication for the myosin-18B association with mathematical ability in independent cohorts

Twin studies indicate that dyscalculia (or mathematical disability) is caused partly by a genetic component, which is yet to be understood at the molecular...

Research

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.

Research

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.

Research

Incidence and associated risk factors for falls in adults with intellectual disability

People with intellectual disability fall at a younger age compared with the broader community

Research

Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review

Synthesized findings demonstrate that people with intellectual disability, who live in community or residential settings, may fall more frequently, and at a younger age

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Risk and protective factors for the health of primary care-givers of children with autism spectrum disorders or ID: a narrative review

We aimed to review original research which described factors impacting the health of primary care-givers of children with Autism or Intellectual Disability

Research

Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome