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Research

Expanding the clinical picture of the MECP2 Duplication syndrome

People with two or more copies of MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype called MECP2 Duplication syndrome.

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Caesarean section and risk of autism across gestational age: a multi-national cohort study of 5 million births

The positive association between caesarean section (CS) and autism spectrum disorder (ASD) may be attributed to preterm delivery.

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Trends in pre-existing mental health disorders among parents of infants born in Western Australia from 1990 to 2005

From 1990 to 2005, there was an increase in prevalence of parents with a prior history of mental health disorders in WA.

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The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

The clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.

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Prevalence, clinical investigation, and management of gallbladder disease in Rett syndrome

This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...

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Risk of stillbirth, preterm delivery, and fetal growth restriction following exposure in a previous birth: Systematic review and meta-analysis

Nonrecurrent risk of stillbirth, Preterm birth, and small for gestational age after exposure to one or more of these complications in a previous pregnancy

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The Brain Basis of Comorbidity in Neurodevelopmental Disorders

This review discusses early brain development and the etiological factors that may give rise to atypical developmental trajectories, along with neuroimaging insights

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Respiratory morbidity in Rett syndrome: An observational study

Rett syndrome is associated with increased vulnerability to lower respiratory tract infection requiring hospitalization

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Twenty-Five Year Survival of Children with Intellectual Disability in Western Australia

To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children without intellectual disability.

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Incidence and prevalence of falls in adults with intellectual disability living in the community: a systematic review protocol.

Our objective is to synthesize the best available evidence to determine the incidence and prevalence of falls in intellectually disabled adults in the community