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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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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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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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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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The Sibling ProjectThe Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.
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Altered attainment of developmental milestones influences the age of diagnosis of rett syndromeThis study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.
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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.