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The diagnosis of autism in a female: could it be Rett syndrome?The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...
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Development of a video-based evaluation tool in Rett syndromeThis paper describes the development of a video-based evaluation tool for use in Rett syndrome (RTT).
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Seizures in Rett syndrome: an overview from a one-year calendar studyInformation on daily seizure occurrence and health service utilization and monthly anti-epileptic drug use was provided on 162 Rett syndrome cases for a...
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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
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NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).
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Young adult reflections on life experiences following preterm birth: a cross-sectional descriptive studyIncreasingly, preterm-born children are entering adulthood as survival at earlier gestational ages improves. However, there is little understanding of the lived experience in preterm-born adults.
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Can Respiratory Hospital Admissions in Children with Cerebral Palsy Be Reduced? A Feasibility Randomized Controlled Trial (RESP-ACT)To investigate the feasibility of implementing recommendations of the consensus statement for the Prevention and Management of Respiratory Disease in children with severe cerebral palsy (CP) via RESPiratory hospital Admissions in children with cerebral palsy: a feasibility randomized Controlled Trial (RESP-ACT).
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Evaluating the Introduction of Humidified High-Flow Nasal Cannula Therapy Into an Australian Aeromedical Service Within a Paediatric Population: A Retrospective Cohort StudyHumidified high flow (HHF) oxygen is increasingly used to treat acute respiratory illnesses in children; however, use during aeromedical transfer is not well described. This was a retrospective cohort study. Children who were transferred from rural locations and were initiated on HHF prior to transfer between 1 January 2015 and 31 December 2018 were identified from the Royal Flying Doctors Service database. Clinical variables prior to transfer, during flight and after transfer were collected from medical records and flight records.
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Access to Oral Healthcare in Individuals With Rett Syndrome: A Qualitative Study of Parent PerspectivesIntellectual and developmental disabilities (IDD) are varied in their nature and presentation. Barriers to oral healthcare are reported in studies of general populations with IDD but these may not reflect the barriers experienced by individuals with rare disorders such as Rett syndrome.
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Parental Experiences of Having a Child Diagnosed With Septo-Optic DysplasiaSepto-optic dysplasia (SOD) is a congenital disorder affecting 1 in 10,000 births, defined by the presence of at least two of a clinical triad, consisting of optic nerve hypoplasia, midline brain defects and pituitary hormone deficiency. Children with SOD may have vision impairment, hormonal deficiencies, developmental disorders, or epilepsy, but the clinical picture is highly variable. The complexity of SOD, its interplay with family factors, and the need for multiple specialty commitments can make the diagnosis period a challenging time for families.