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Research
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...
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Barriers to diagnosis of a rare neurological disorder in China-Lived experiences of Rett syndrome familiesFourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
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The diagnostic odyssey to Rett syndrome: The experience of an Australian familyThe diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.
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Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric studyValidated measures capable of demonstrating meaningful interventional change in the CDKL5 deficiency disorder (CDD) are lacking. The study objective was to modify the Rett Syndrome Gross Motor Scale (RSGMS) and evaluate its psychometric properties for individuals with CDD.
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Oral health experiences of individuals with Rett syndrome: A retrospective studySocial advantage may provide some protection for dental health in individuals with Rett syndrome
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Impact of Gastrostomy Placement on Nutritional Status, Physical Health, and Parental Well-Being of Females with Rett SyndromeGastrostomy placement was associated with improvement in BMI in females with Rett syndrome, but its long-term impact on individuals and their families is unclear
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Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practicesAttention to sleep hygiene remains an important management strategy for sleep problems in Rett syndrome
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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trialWe investigated the effects of environmental enrichment on gross motor skills and blood BDNF levels in girls with Rett syndrome.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.