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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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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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Use of equipment and respite services and caregiver health among Australian families living with Rett syndromeThis study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
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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 Promise of Electroencephalography for Advancing Diagnosis and Treatment in Neurodevelopmental DisordersNeurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder, and intellectual disability (ID), commonly emerge during early development and impact functioning across cognitive, social-emotional, communication, and sensorimotor domains.
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Brief Report: Burden of Care in Mothers of Children with Autism Spectrum Disorder or Intellectual DisabilityMothers of children with autism spectrum disorder or intellectual disability have higher rates of treatment episodes for psychiatric disorders
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Family satisfaction following spinal fusion in Rett syndromeWe evaluated family satisfaction following spinal fusion in girls with Rett syndrome
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How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?This paper reviews the disorder Rett syndrome and evidence for the management of scoliosis and poor growth within a clinical ethics framework