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Showing results for "autism"
Rett syndrome is a rare but serious neurological disorder that affects about 1 in 9,000 girls. Even more rarely, boys may be affected.
Research
Assessing the quality, efficiency and usefulness of the Western Australian population-based Intellectual Disability Exploring Answers (IDEA) surveillance systemThe IDEA system is a valuable resource to address the needs of people living with intellectual disability
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Child protection involvement of children of mothers with intellectual disabilityChildren born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.
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Factors Influencing Postoperative Experiences in Adult Cochlear Implant Recipients: A Multistakeholder PerspectiveTo explore factors influencing postoperative experiences of adult cochlear implant (CI) recipients, determine the impact of each factor, and conceptualize recipients' postoperative journey.
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Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysisNonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy
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Association between interpregnancy interval and adverse birth outcomes in women with a previous stillbirth: an international cohort studyConception within 12 months of a stillbirth was common and was not associated with increased risk of adverse outcomes in the subsequent pregnancy
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Low maternal serum vitamin D during pregnancy and the risk for postpartum depression symptomsPregnancy is a time of vulnerability for vitamin D insufficiency, and there is an emerging literature associating low levels of 25(OH)-vitamin D with...
Functional capacity assessments help families and the NDIS ensure that children receive the right level of support, resources, and funding to achieve their goals.
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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndromeThis study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.