Validating the Rett Syndrome Gross Motor Scale
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چکیده
منابع مشابه
Validating the Rett Syndrome Gross Motor Scale
Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this population. The current study investigated the validity and reliability of the Rett Syndrome Gross Motor Scale. Video data showing gross motor ...
متن کاملGross motor profile in rett syndrome as determined by video analysis.
Movement impairment is a fundamental but variable component of the Rett syndrome phenotype. This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate the impact of age, genotype, scoliosis and hand stereotypies. Factor analysis enabled the calculation of general and complex gross motor skills scores. Most...
متن کاملGross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.
MECP2 mutations are identifiable in approximately 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis, but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 was carried out using multiplex ligation dependent probe ampli...
متن کامل[Rett syndrome].
REFERENCES 1. Caldwell MB, Rogers MF. Epidemiology of pediatrics HIV infection. Pediatr Clin North Am 1991,38:1-16. 2. Centers for Disease Control. HIV/AIDS Surveillance Report. April, 1990. 3. Jovaisas E, Koch M, Schafer A, et al. LAV, HTLV III in 20 week fetus. Lancet 1985, 2:1129. 4. Zeigler JB, Cooper DA, Johnson RO, et al. Postnatal transmission of AIDSassociated retovirus from a mother to...
متن کاملRett syndrome.
Rett syndrome is a progressive neurodegenerative disease of unknown etiology. Reported here are three children who presented with all clinical features of Rett syndrome. The aim of this presentation is to alert physicians to the existence of this progressive brain disease which only affects girls and so far no specific treatment has been suggested.
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2016
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0147555