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MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
The role of the anti-Müllerian hormone (AMH) as an indicator of physical and reproductive health in men is unclear. We assessed the relationships between AMH and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and metabolic parameters, in a cohort of expectant fathers.
The underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need to be elucidated to develop less invasive treatment and prevention strategies.
To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.
Traditional conceptualizations of aggression distinguish between reactive (e.g., rage) and proactive (e.g., reward) functions of aggression. However, critiques of this dichotomy have pointed out these models conflate motivational valence and self-control.
To assess the degree to which timely audiological assessment of congenital hearing loss is achieved at our institution - Perth Children's Hospital, Western Australia, and to review cases which breached this timeframe in order to address barriers to timely assessment. The benchmark used to determine timely assessment is that set out by The Joint Committee on Infant Hearing (JCIH) in which diagnostic audiological testing occurs by three months of age for those who do not pass newborn hearing screening.
Growing evidence from preclinical studies, epidemiology, and randomized controlled trials supports a causal role for diet quality in mental disorder risk, and clinical psychiatric guidelines now place diet, along with other life-style behaviors, as foundational treatment targets for mood disorders.
Evidence indicates that multistrain probiotics benefit preterm infants more than single-strain (SS) probiotics. We assessed the effects of SS versus triple-strain (TS) probiotic supplementation (PS) in extremely preterm (EP) infants.
Citation: Marpole R, Langdon K, Wilson A. Gastrostomy feeding in children with severe cerebral palsy in Western Australia. Acta Paediatr Int J
The relationship between physical activity and child health and development is well-documented, yet the extant literature provides limited causal insight into the amount of physical activity considered optimal for improving any given health or developmental outcome.