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Septo-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD.
Septo-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.
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).
A severe neurodevelopmental disorder mostly affecting girls.
Two The Kids Research Institute Australia researchers recognised for their role in building a global database for CDKL5 deficiency disorder are now helping to set the scene for clinical trials of much-needed potential treatments.
While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.
Meet Toby - he has developmental coordination disorder (DCD), a neurodevelopmental condition that causes delays and impairments in fine and gross motor skills.
Developmental Coordination Disorder (DCD) is an under-recognized and often trivialized neurodevelopmental condition impacting five to six percent of children. This study aimed to map the impact of DCD on children and their families in Belgium.
Impact for Tourette's, the first survey of its kind in Australia provides comprehensive national data on the daily challenges faced by children and adults living with tic-related disorders like Tourette syndrome
Impact for Tourette’s is Australia’s first national project evaluating the unmet needs of people with Tourette syndrome and other tic conditions.