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Showing results for "autism"
Research
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThe clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.
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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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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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Relationship between family quality of life and day occupations of young people with Down syndromeThis study aimed to explore relationships between family quality of life, day occupations and activities of daily living of young persons with Down syndrome.
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Gross Motor Profile in Rett Syndrome as Determined by Video AnalysisThis study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...
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Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency DisorderHelen Jenny Peter Leonard Downs Jacoby MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Head, Child Disability
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Charting developmental trajectories from 12 to 36 months and associated early risk and protective factorsTo investigate developmental trajectories in early childhood and predictors of class assignment.
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Linking MECP2 and pain sensitivity: the example of Rett syndromeThis study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.
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Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian databaseStereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically.
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Rett syndrome: establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersThis study investigated the capacity of three accelerometer-type devices to measure walking activity in Rett syndrome