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Showing results for "autism"

Research

Prevalence and risk factors for parent-reported recurrent otitis media during early childhood

The prevalence of parent-reported rOM was 26.8% (611/2280) and 5.5% (125/2280) for severe rOM in the Study.

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Maternal serum vitamin D levels during pregnancy and offspring neurocognitive development

The objective was to determine the association between maternal serum 25(OH)-vitamin D concentrations and behavioural, emotional and language outcomes...

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qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

This 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.

Research

Factors influencing the attainment of major motor milestones in CDKL5 deficiency disorder

This study investigated the influence of factors at birth and in infancy on the likelihood of achieving major motor milestones in CDKL5 Deficiency Disorder (CDD). Data on 350 individuals with a pathogenic CDKL5 variant was sourced from the International CDKL5 Disorder Database.

Research

Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder

The 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.

Research

Genotype and sleep independently predict mental health in Rett syndrome: An observational study

Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.

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Expanding the clinical picture of the MECP2 Duplication syndrome

Perinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome

Research

Parental perspectives on the communication abilities of their daughters with Rett syndrome

How females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication

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Community participation for girls and women living with Rett syndrome

Participation for girls and women with Rett syndrome could be enhanced by stronger local community supports.

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There is variability in the attainment of developmental milestones in the CDKL5 disorder

Individuals with the CDKL5 disorder have been described as having severely impaired development.