Skip to content

Search

Showing results for "rett"

Predictors of seizure onset in Rett syndrome

Information on presence and age at onset of seizures, perinatal and developmental history, and genetic status was abstracted on 275 cases in the Aust…

Refining the phenotype of common mutations

(2004). Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics ... abstract. Background Since Rett syndrome was fir…

qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome

This study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative or…

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study

Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type…

The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study

This study assessed the functional skills of three girls with RTT aged 35 years before and during participation in a CE programme.

Linking MECP2 and pain sensitivity

'Linking MECP2 and pain sensitivity: the example of Rett syndrome', American Journal of Medical Genetics ... Background Girls and women with Rett syn…

Participate in InterRett / MECP2 Duplication Research

doctor who is familiar with the individual who has Rett syndrome to complete a Clinician Questionnaire. ... from the database are analysed by the Aus…

A validation study of a modified Bouchard activity record

activity record that extends the concept of 'uptime' to Rett syndrome. Developmental Medicine & Child Neurology ... counted by an accelerometer in gi…