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Research

Modifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...

Research

Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...

Research

To investigate specific child and parental factors associated with increased vulnerability to substantiated child maltreatment.

Research

Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis.

Research

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Australian...

People

Head, Child Disability

Research

We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome.

Research

Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships

Research

There were differences in the presentation of clinical features occurring in the CDKL5 disorder and in Rett syndrome.

Research

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