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Showing results for "autism"

Clinical and biological progress over 50 years in Rett syndrome

Review of the clinical and biological progress over 50 years in Rett Syndrome

Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndrome

This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors

Bone mineral content and density in Rett syndrome and their contributing factors

This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort...

Longitudinal hand function in Rett syndrome

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...

Variation over time in medical conditions and health service utilization of children with Down syndrome

Variation over time in medical conditions and health service utilization of children with Down syndrome.

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome

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

Physical and mental health in mothers of children with Down syndrome.

Physical and mental health in mothers of children with Down syndrome.

Predictors of scoliosis in Rett syndrome

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects girls.

CDKL5 deficiency disorder: clinical features, diagnosis, and management

CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy.

Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure

Rett syndrome (RTT) is a severe neurodevelopmental disorder associated with multiple neurobehavioral abnormalities. The Rett Syndrome Behaviour Questionnaire (RSBQ) was developed for pediatric RTT observational studies. Because its application has expanded to adult and interventional studies, we evaluated the RSBQ's psychometric properties in six pediatric (n = 323) and five adult (n = 309) datasets.