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Showing results for "autism"
Research
Feeding experiences and growth status in a Rett syndrome populationFeeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the...
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Research
Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort studyMothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.
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Predictors of Change in Wellbeing and Mental Health of Parents of Autistic Pre-SchoolersParenting is a rewarding experience but is not without its challenges. Parents of Autistic children face additional challenges, and as a result can experience lower levels of wellbeing and more mental health problems (i.e., depression, anxiety, stress). Previous studies have identified concurrent correlates of wellbeing and mental health.
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Description of Total Population Hospital Admissions for Treacher Collins Syndrome in AustraliaTo describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.
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Deletions in the CDKL5 5 untranslated region lead to CDKL5 deficiency disorderPathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy.
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Community participation: Conversations with parent-Carers of young women with Rett syndromeIn this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
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Early progressive encephalopathy in boys and MECP2 mutationsMECP2 mutations mainly occur in females with Rett syndrome. Mutations have been described in 11 boys with progressive encephalopathy...
Research
NTNG1 mutations are a rare cause of Rett syndromeA translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT).