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Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoeaWe report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L
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Epigenome-wide meta-analysis of DNA methylation and childhood asthmaNovel loci differentially methylated in newborns represent potential biomarkers of risk of asthma by school age
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Evening and night work schedules and children's social and emotional well-beingThe findings show that both mothers’ and fathers’ evening and night work schedules are linked to an increase in children's externalizing and internalizing behavior
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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett SyndromeGastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear
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Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic ResponseDespite low ERBB4 mRNA in glioblastoma, the functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target
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Epidemiology and risk factors for recurrent severe lower limb cellulitis: a longitudinal cohort studySevere lower leg cellulitis recurrences are frequent, and each episode increases the likelihood of subsequent recurrence and length of hospitalization
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Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practicesAttention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome
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Development, construct validity and utility of a cross-culturally adapted Otitis Media-6 (OM-6) questionnaire for urban Aboriginal and/or Torres Strait Islander childrenTamara Chris Valerie Veselinovic Brennan-Jones Swift BSc(Hons) MClinAud PhD PhD Clinical Research Fellow Head, Ear and Hearing Health Aboriginal
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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.
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Early Dysglycemia Is Detectable Using Continuous Glucose Monitoring in Very Young Children at Risk of Type 1 DiabetesContinuous glucose monitoring (CGM) can detect early dysglycemia in older children and adults with presymptomatic type 1 diabetes and predict risk of progression to clinical onset. However, CGM data for very young children at greatest risk of disease progression are lacking.