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Research

A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

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Modifiable child and caregiver factors that influence community participation among children with Down syndrome

To investigate modifiable child and caregiver factors influencing community participation among children with Down syndrome.

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Oral health education and promotion in special needs children: Systematic review and meta-analysis

To review the effectiveness of oral health education and oral health promotion interventions for children and adolescents with intellectual and developmental disabilities (IDD), in ensuring optimal gingival health, caries experience and oral health-related quality of life, compared to no interventions or alternative interventions.

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Survival of children and adolescents with intellectual disability following gastrostomy insertion

Whilst gastrostomy insertion was associated with lower survival rates than children without gastrostomy, survival improved with time

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Investigating falls in adults with intellectual disability living in community settings and their experiences of post-fall care services

This study will determine the rate of falls among older adults with ID living in community based settings, which will assist to identify the extent of this problem

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The Risk of Neurodevelopmental Disabilities in Children of Immigrant and Refugee Parents: Current Knowledge and Directions for Future Research

We investigated the literature from 2002 to 2016 describing the risk of ASD, intellectual disability and ADHD in children of refugee and immigrant backgrounds.

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Risk of Mortality into Adulthood According to Gestational Age at Birth

To quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.

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Measurement of Sedentary Behaviors or "downtime" in Rett Syndrome

This study aimed to validate measures of sedentary time in individuals with Rett syndrome.

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Mothers of Children with Autism have Different Rates of Cancer According to the Presence of Intellectual Disability in Their Child

Mothers of children with autism without ID had increased risk of cancer, which may relate to common genetic pathways