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Caring for a child with severe intellectual disability in China: The example of Rett syndrome

Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and sup…

Large deletions of the MECP2 gene

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with ... deletion can be associated with clinic…

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trial

Clinical severity and X-chromosome inactivation

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation ... Background Girls and women with Ret…

Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome

The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome

Parental experiences of scoliosis management

Parental experiences of scoliosis management in Rett syndrome. Disability and Rehabilitation. 2009;31(23):1917-24 ... common orthopedic issue for gir…

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...

Down syndrome or Rett syndrome in the family: Parental reflections on sibling experience

Siblings of children with intellectual disability have unique family experiences, varying by type of disability.