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Evaluation Tools Developed for Rett SyndromeRett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it.
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Associations between the human immune system and gut microbiome with neurodevelopment in the first 5 years of life: A systematic scoping reviewThe aim of this review was to map the literature assessing associations between maternal or infant immune or gut microbiome biomarkers and child neurodevelopmental outcomes within the first 5 years of life. We conducted a PRISMA-ScR compliant review of peer-reviewed, English-language journal articles.
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Investigating associations between birth order and autism diagnostic phenotypesBirth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order.
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Quality of life beyond diagnosis in intellectual disability – Latent profilingTo compare quality of life (QOL) across diagnoses associated with intellectual disability, construct QOL profiles and evaluate membership by diagnostic group, function and comorbidities.
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Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency DisorderOur study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy
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What effect does regular exercise have on oxidative stress in people with Down syndrome? A systematic review with meta-analysesThere remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome
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Intellectual disability in children conceived using assisted reproductive technologyThe risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002
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Evolving Trends of Gastrostomy Insertion Within a Pediatric PopulationNew gastrostomy insertion among children who require long-term enteral feeding support increased over the study period
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Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort studyPeople with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives
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Australian children living with rare diseases: health service use and barriers to accessing careChildren with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.