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Research
Early determinants of fractures in Rett syndromeThe goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...
Research
Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
The Quality of Life Inventory - Disability
Research
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.
Research
“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...
Research
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...
Research
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.
Research
Neonatal complications in public and private patients: A retrospective cohort studyDespite the rates of low Apgar scores being higher in public patients, the rates of special care admission were lower.
Research
The International Collaboration for Autism Registry Epidemiology (iCARE): Multinational Registry-Based Investigations of Autism Risk Factors and TrendsiCARE provides a unique, unprecedented resource in autism research that will significantly enhance the ability to detect environmental and genetic...