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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.

Rett Syndrome: Revised diagnostic criteria and nomenclature

The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.

Monitoring child abuse and neglect at a population level: patterns of hospital admissions for maltreatment and assault

To investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children;

Unpacking the complex nature of the autism epidemic

The etiology of autism spectrum disorders is unknown but there are claims of increasing prevalence in many countries.

Valproate and risk of fracture in Rett syndrome

This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions to that of cases with different MECP2 mutations

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Epilepsy and mental retardation limited to females (EFMR) is an intriguing X-linked disorder affecting heterozygous females and sparing hemizygous males.

Hip displacement and scoliosis in Rett syndrome - screening is required

The prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management

Guidelines for management of scoliosis in Rett syndrome patients based on expert consensus and clinical evidence

To develop guidelines for the clinical management of scoliosis in Rett syndrome through evidence review and consensus expert panel opinion.