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Showing results for "rett"
Research
qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndromeThis 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.
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Level of purposeful hand function as a marker of clinical severity in Rett syndromeWe investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
We investigated our data from family questionnaires to see how feeding difficulties related to age, the type of MECP2 mutation, and the use of gastrostomy.
We developed a measure of hand function, and then investigated relationships between hand function, type of MECP2 mutation, age and severity of symptoms.
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Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal studyLongevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course of RTT in adults in order to improve medical care management and quality of life.
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Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotypePrevalence and determinants of sleep problems in Rett syndrome
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Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
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CAGE-defined promoter regions of the genes implicated in Rett SyndromeA comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
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Pubertal trajectory in females with Rett syndrome: A population-based studyThe aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.
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A qualitative investigation of recovery after femoral fracture in Rett syndromeThis study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.