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Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disabilityInvolvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.
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qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndromeThis study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
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Risk of otitis media in offspring following maternal prenatal stress exposureThere is limited but consistent evidence that suggests prenatal factors, including maternal stress, may contribute to susceptibility for otitis media. We aimed to determine the effect of multiple life stress events during pregnancy on risk of acute and recurrent otitis media in offspring at three and five years of age.
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Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal studyLongevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.
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Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorderThe study investigated the effect of seizure and medication burden at initial contact with the International CDKL5 Disorder Database on subsequent development and clinical severity and compared quality of life among those whose development progressed, remained stable, or regressed between baseline and follow-up.
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Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage StudyWe aimed to describe birth prevalence of rare craniofacial anomalies and associations with antenatal and perinatal factors. All live and stillbirths in Western Australia between 1980 and 2010 were identified from the Western Australian Birth Registrations and the Midwives Notification System (also provides information on antenatal and perinatal factors).
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Gestational age as a predictor for subsequent preterm birth in New South Wales, AustraliaThere is no validated evidence base on predictive ability and absolute risk of preterm birth by gestational age of the previous pregnancy. We conducted a retrospective cohort study of mothers who gave birth to their first two children in New South Wales, 1994-2016. For each week of final gestational age of the first birth, we calculated relative and absolute risks of subsequent preterm birth.
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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?These cases, both without seizures but with apparent behavioral symptomatology, together question whether seizures are mandatory in this disorder
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Efficacy of Health Literacy Interventions for Caregivers of Individuals with Neurodevelopmental and Chronic Conditions: A Rapid ReviewCaregivers of individuals with neurodevelopmental and chronic health conditions require health literacy (HL) skills for the long-term management of these conditions. The aim of this rapid review was to investigate the efficacy of HL interventions for these caregivers.
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Eating and drinking abilities and respiratory and oral health in children and young adults with cerebral palsyTo investigate the potential risk factors of respiratory illness (ethnicity, oral health, and eating and drinking ability) in children and young adults with cerebral palsy.