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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
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Expanding the clinical picture of the MECP2 Duplication syndromePeople with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.
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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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A fine balance and a shared learning journey: Exploring healthcare engagement through the experiences of youth with Neuromuscular DisordersExplored Youth with Neuromuscular Disorders perceptions of health, health behaviors and healthcare engagement
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Quantitative and qualitative insights into the experiences of children with Rett syndrome and their familiesEarly presentation of Rett syndrome, including regression and challenges for families seeking a diagnosis
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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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Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million birthsThe positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.
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Ovulation induction and subfertile untreated conception groups offer improved options for interpreting risks associated with ARTTo identify and characterise appropriate comparison groups for population studies of health outcomes in ART-conceived births: ovulation induction (OI), subfertile untreated and fertile natural conceptions. Our secondary objective was to examine whether known risks of pregnancy complications and adverse birth outcomes in ART births are elevated in comparison with subfertile (untreated and OI) conception groups.
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Intellectual disability and autism prevalence in Western Australia: impact of the NDISEstimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.
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“Broken fragments or a breathtaking mosaic”: A mixed methods study of self-reported attributes and aspirations of siblings of individuals with and without neurodevelopmental conditionsSiblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs.