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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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Hospital admissions and gestational age at birth: 18 Years of follow up in Western AustraliaThis effect of gestational age on rehospitalisation for infants born preterm is highest in the first year post-discharge, but almost disappeared by adolescence
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Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndromeThis study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome.
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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
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It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndromeThe purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome.
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Family Functioning in Families with a Child with Down syndrome: A Mixed Methods ApproachFamily Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...
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A comparison of autism prevalence trends in Denmark and Western AustraliaPrevalence statistics for autism spectrum disorders (ASD) vary widely across geographical boundaries. Some variation can be explained by diagnostic methods...
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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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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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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.