Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database
نویسندگان
چکیده
منابع مشابه
The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.
This study compared the behavior profile of cases in the Australian Rett Syndrome Database (ARSD) with those in a British study using the Rett Syndrome Behavior Questionnaire (RSBQ) and then examined behavioral patterns as measured by the RSBQ by genetic status. There were 145 Australian cases meeting the criteria for the first arm of the study and 135 for the second arm. Comparison of the scor...
متن کاملEpilepsy in Rett syndrome--lessons from the Rett networked database.
OBJECTIVE Rett syndrome is an X-linked dominant neurodevelopmental disorder caused by mutations in the MECP2 gene, and characterized by cognitive and communicative regression, loss of hand use, and midline hand stereotypies. Epilepsy is a core symptom, but literature is controversial regarding genotype-phenotype correlation. Analysis of data from a large cohort should overcome this shortcoming....
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.
متن کاملRett Syndrome
Rett syndrome is an X-linked neurological disorder that is a leading cause of mental retardation among females. The progression of the disease consists of normal neonatal development followed by a regression period during which neurodevelopmental signs such as mental retardation and decline of motor abilities start to appear. The developmental progress of Rett patients is within normal range fo...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2010
ISSN: 0012-1622
DOI: 10.1111/j.1469-8749.2010.03716.x