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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...
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Expanding the clinical picture of the MECP2 Duplication syndromePerinatal characteristics, early childhood development and medical co-morbidities in MECP2 Duplication syndrome
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Parental perspectives on the communication abilities of their daughters with Rett syndromeHow females with Rett syndrome communicate in everyday life and the barriers and facilitators to successful communication
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Family functioning in families with a child with Down syndrome: A mixed methods approachThis study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
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Community participation for girls and women living with Rett syndromeParticipation for girls and women with Rett syndrome could be enhanced by stronger local community supports.
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The triple challenges associated with age-related comorbidities in Down syndromeMajor increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring...
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There is variability in the attainment of developmental milestones in the CDKL5 disorderIndividuals with the CDKL5 disorder have been described as having severely impaired development.
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Onset of maternal psychiatric disorders after the birth of a child with intellectual disability: A retrospective cohort studyMothers of a child with intellectual disability (ID) have more psychiatric disorders after the birth of their child than other mothers.
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Rett syndrome: Establishing a novel outcome measure for walking activity in an era of clinical trials for rare disordersRett syndrome is a pervasive neurological disorder with impaired gait as one criterion.