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Showing results for "rett"
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Genotype and sleep independently predict mental health in Rett syndrome: An observational studyRett 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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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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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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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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Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male probandComprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations...
In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.
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What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...