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Assessment and management of nutrition and growth in rett syndromeWe developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...
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Using a large international sample to investigate epilepsy in Rett syndromeThe aim of this study was to identify characteristics of epilepsy in Rett syndrome (RTT), and relationships between epilepsy and genotype.
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“I have a good life”: the meaning of well-being from the perspective of young adults with Down syndromeThe purposes of this study were to explore what makes for a "good life" from the perspective of young adults with Down syndrome and to identify the barriers...
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The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot studyThis study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.
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Early mortality and primary causes of death in mothers of children with intellectual disability or Autism spectrum disorderMothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers.
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The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.
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Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population studyAssisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.
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Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal ageThis study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.
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Autism and Attention-Deficit/Hyperactivity Disorder Content in Highly Viewed TikTok VideosSocial media allows users to connect with others’ experiences and points of view, with TikTok being the fastest-growing platform worldwide. Highly viewed videos related to neurodiversity on TikTok have an increasing role in understanding and acceptance of neurodivergent individuals.
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Facilitators, barriers, and strategies for supporting shared decision-making with people with intellectual disability: A West Australian primary healthcare professional perspectiveShared decision-making between patients and primary healthcare professionals positively impacts health outcomes. However, people with intellectual disability face additional barriers and require supported shared decision-making (SSDM) to participate. Little is known about how healthcare professionals use SSDM with this population. This paper explores the facilitators and barriers experienced, and strategies/resources employed by healthcare professionals working with people with intellectual disability.