The association between behavior and genotype in Rett syndrome using 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 کاملSelf-injurious behavior in Rett syndrome: interactions between features of Rett syndrome and operant conditioning.
Operant and biological theories of the cause of self-injurious behavior (SIB) in people with a mental handicap are often viewed as mutually exclusive. In this single case study, interactions between features of Rett syndrome and operant conditioning as determinants of SIB are examined. Functional analysis by analog methodology indicated different functions for two forms of SIB shown by the subj...
متن کاملDoes genotype predict phenotype in Rett syndrome?
Mutations in the X-linked gene encoding the methyl-CpG binding protein MeCP2 are the primary cause of classic and atypical Rett syndrome and have recently been shown to contribute to other neurodevelopmental disorders of varying severity. To determine whether there are molecular correlates to the phenotypic heterogeneity, numerous groups have performed genotype-phenotype correlation studies. Th...
متن کاملDescribing the phenotype in Rett syndrome using a population database.
BACKGROUND Mutations in the MECP2 gene have been recently identified as the cause of Rett syndrome, prompting research into genotype-phenotype relations. However, despite these genetic advances there has been little descriptive epidemiology of the full range of phenotypes. AIMS To describe the variation in phenotype in Rett syndrome using four different scales, by means of a population databa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
سال: 2006
ISSN: 1552-4841,1552-485X
DOI: 10.1002/ajmg.b.30270