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The Western Australian Birth Defects Registry and the Western Australian Cerebral Palsy Register used multiple sources of voluntary notification without...
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
Given the severe risks to the fetus from heavy prenatal alcohol exposure, assessment and recording of alcohol use should be routinely undertaken in maternity...
Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
Although record linkage of routinely collected health datasets is a valuable research resource, most datasets are established for administrative purposes and...
To describe trends, age-specific patterns, and factors influencing hospitalizations for 5 rare craniofacial anomalies.
Pre-eclampsia is a common complication of pregnancy and is a major cause of fetal maternal mortality and morbidity.
CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.
Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population.
Besides motor impairments, up to 90% of the children and adolescents with unilateral cerebral palsy (uCP) present with somatosensory impairments in the upper limb. As somatosensory information is of utmost importance for coordinated movements and motor learning, somatosensory impairments can further compromise the effective use of the impaired upper limb in daily life activities.
Childhood brain tumors (CBT) are the leading cause of cancer death in children, yet their causes are largely known. This study investigated the association...
This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
A programme of monitoring mandatory fortification has been established in Australia.
Siblings of individuals with neurodevelopmental conditions (NDCs) experience distinct challenges and have unique strengths compared to siblings of individuals without NDCs.
Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs.
Children with Developmental Coordination Disorder (DCD) experience difficulty in the acquisition and performance of movement skills, threatening participation and quality of life. Environmental influences on participation and quality of life were investigated in children with DCD and their neurotypical peers.
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.