PURPOSE Survival in Rett syndrome remains unclear. Although early estimates were grim, more recent data suggest that survival into adulthood is typical. We aimed to define survival in Rett syndrome more clearly and identify risk factors for early death. METHODS Participants with clinical Rett Syndrome or methyl-CpG-binding protein 2 mutations without clinical RTT were recruited through the Re...

rett syndrome is a neurodevelopmental disorder with a unique clinical presentation that occurs almost exclusively in females. angelman syndrome (happy-puppet syndrome) presents with a characteristic face, severe mental retardation, and epilepsy in 80 to 90 percent of cases. rett and angelman syndromes are both part of the spectrum of neurologic disorders associated with autism. their clinical p...

Rett syndrome is a severe neurodevelopmental disorder of unknown aetiology. A prolonged QT interval has been described previously in patients with Rett syndrome. To investigate QT prolongation and the presence of cardiac tachyarrhythmias in Rett syndrome electrocardiography and 24 hour Holter monitoring were performed prospectively in a cohort of 34 girls with Rett syndrome. The corrected QT va...

Rett syndrome, a neurodevelopmental disorder affecting mainly females, is caused by a mutation of the MeCP2 gene. Girls with Rett syndrome manifest diverse behavioral and cognitive phenotypes, and the reasons for this variability remain unknown. In addition, girls with Rett syndrome often have epileptic seizures and abnormal EEGs, the characteristics of which differ with the patient. The aim of...

Rett syndrome is an X-linked neurodevelopmental disorder resulting in profound psychomotor retardation. It is usually diagnosed by a pediatrician or pediatric neurologist. Adult neurologists may, therefore, overlook the possibility of Rett syndrome in women with psychomotor retardation of unknown etiology. We report the case of a woman diagnosed with Rett syndrome at age 49 years. This report e...

Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. G...

OBJECTIVE Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome. METHODS We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit f...

Herein we present the largest retrospective case-control series of deep sedation in patients with Rett syndrome, including discussion of the unique aspects of Rett syndrome that make these patients at high risk for sedation. Twenty-one patients with Rett syndrome and 21 control patients who received propofol for deep sedation to facilitate lumbar puncture were compared. Patients with Rett syndr...

Since the description of Rett syndrome, only a handful of epidemiologic studies based only on clinical investigation have been reported. Mutations in the MECP2 gene are associated with Rett syndrome and French laboratories have organized a clinical and molecular network to investigate the incidence of Rett syndrome in France including the results of molecular investigations. The present study, ...

We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosis and has osteoporosis sleep problems and sludging in his gall bladder. Prior ...