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Research
Intraoperative neurophysiology monitoring in scoliosis surgery in childrenOur study adds to the literature supporting the role of intraoperative neurophysiology monitoring in scoliosis surgery in children
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Association of Genetic and Environmental Factors with Autism in a 5-Country CohortBased on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%
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Birth seasonality and risk of autism spectrum disorderIn the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden
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The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a severe treatment-resistant form of early-onset epilepsy. Current treatment options are often ineffective and associated with adverse effects, forcing families to seek alternative therapies for their children including products derived from cannabis. Reportsof miraculous cures and a public preferencefor 'natural' therapies have resulted in considerable public interest, and so this study aimed to characterize the use of cannabis in these individuals, as well as compare caregiver perceptions of efficacy and safety to objective evidence of seizure control and number of antiepileptic drugs used.
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Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-beingFor mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeInvestigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder
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Transition to adulthood for young people with intellectual disability: the experiences of their familiesA number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood
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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delaysParents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals
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Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndromeThe aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.
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An exploration of the use of eye gaze and gestures in females with rett syndromeEye gaze is used more frequently than gestures for communication, and this is related to age, MECP2 mutation type, and gross motor abilities