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Resourceful and creative methods are necessary to research rare disordersOur investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
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The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot studyThis study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
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Implementing Telehealth support to increase physical activity in girls and women with Rett syndromeHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
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Multigenerational Familial and Environmental Risk for Autism (MINERvA) NetworkEmma Helen Glasson Leonard BPsych BSc (Hons) PhD MBChB MPH Senior Research Fellow Principal Research Fellow +61 419 956 946 emma.glasson@
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The impact of single gene and chromosomal disorders on hospital admissions of children and adolescents: A population-based studyIt is well recognized that genetic disease makes a significant contribution to childhood illness. Here, we present recent population data describing...
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The use of cross-jurisdictional population data to investigate health indicators of child maltreatmentTo investigate the prevalence, trends, and characteristics of maltreatment and assault related hospital admissions and deaths among children
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Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndromeThere is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
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Hip displacement and scoliosis in Rett syndrome - screening is requiredThe prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management
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The impact of having a sibling with an intellectual disability:parental perspectives in two disordersThis study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.