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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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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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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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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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Twenty-Five Year Survival of Children with Intellectual Disability in Western AustraliaTo investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.
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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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Safety, tolerability, and effect of a single aural dose of Dornase alfa at the time of ventilation tube surgery for otitis media: A Phase 1b double randomized control trialOne third of children require repeat ventilation tube insertion (VTI) for otitis media. Disease recurrence is associated with persistent middle ear bacterial biofilms. With demonstration that Dornase alfa (a DNase) disrupts middle ear effusion biofilms ex vivo, we identified potential for this as an anti-biofilm therapy to prevent repeat VTI. First, safety and tolerability needed to be measured.
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Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based studyAdvances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
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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.