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Research
Side effects of medications used to treat childhood interstitial lung diseaseInterstitial lung disease in children comprises a range of different rare diseases
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Excess stroke incidence in young Aboriginal people in South Australia: Pooled results from two population-based studiesThe excess stroke incidence in Aboriginal South Australians appears substantial, especially in those aged <55 years
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Maternal smoking and low family income during pregnancy as predictors of the relationship between depression and adiposity in young adultsWe aimed to investigate the influence of antenatal and postnatal factors on the increasing incidence of overweight/obesity and mental health disorders in young adults
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Construct validity and responsiveness of the functional Tactile Object Recognition Test for children with cerebral palsyThe functional Tactile Object Recognition Test demonstrated preliminary construct validity, and was positively associated with an upper limb activity measure
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Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortThe purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort
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Navigating 'the system' to find supports and services for people with developmental disability: How can research help make this a better journey?Parents navigate what can be a confusing world of early intervention services, residing in the health, disability and/or education sectors
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Cohort Profile: The New South Wales Child Development Study (NSW-CDS)-Wave 2 (child age 13 years)The New South Wales Child Development Study was established to enable a life course epidemiological approach to identifying risk and protective factors
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Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.
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Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital MicrocephalyThe recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.
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The unmet clinical needs of children with developmental coordination disorderThe aim of this study was to understand the challenges experienced by families obtaining a diagnosis and therapy for developmental coordination disorder (DCD). Parents of 435 children aged 4-18 years with persistent motor difficulties consistent with a diagnosis of DCD completed an online survey. Diagnostic timeline and diagnostic label/s received were examined, along with therapies accessed.