R ett syndrome is an X linked mental retardation syndrome almost exclusively affecting girls, and has long been regarded as an X linked dominant condition lethal in hemizygous males. Mutations in the gene encoding the methyl-CpG binding protein 2 (MECP2) were demonstrated as the cause of Rett syndrome, and confirmed by a number of studies. The vast majority (95%) of MECP2 mutations occurs de no...

Context: Pathologic aerophagia is defined as air swallowing causing abdominal distension and/or repetitive flatulence/belching present for greater than 12 weeks in a year. Pathologic aerophagia, which can be exacerbated by anxious behavior, is common in Rett Syndrome patients and can cause significant distress. Case report: We report a case of an 8-year-old female, with Rett Syndrome, who devel...

OBJECTIVES Interrelationships between Rett syndrome scoliosis and symmetric and asymmetric motor pull, ambulation, and advancement of age were investigated in order to provide a treatment rationale for slowing the progression of scoliosis. METHOD Questionnaires (N = 262) completed by International Rett Syndrome Association families were analyzed with logistic regression, odds ratio, Kruskal-W...

Rett syndrome is a neurologic disorder affecting mainly females after a seemingly normal 6 to 18 months of life. The resulting developmental disabilities include apparent dementia and loss of acquired language, social skills, and purposeful hand use. The present investigation assessed 10 individuals with Rett syndrome and a control group matched for age and sex. The present study aimed to deter...

Rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand and communication skills and the development of hand stereotypies and dyspraxia. Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause Rett syndrome in up to 80% of ...

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the di...

OBJECTIVES Feeding difficulties in Rett syndrome are complex and multifactorial. In this study, we describe the feeding experiences in Rett syndrome and examine the factors affecting growth. MATERIALS AND METHODS Using questionnaire data related to a population-based cohort, ages 2 to 29 years (n = 201), we measured the feeding experiences, growth, and factors affecting growth (enteral nutrit...

PURPOSE OF REVIEW New information on the clinical and molecular aspects of Rett syndrome has emerged at an accelerated pace since the identification of mutations in methyl-CpG-binding protein 2 gene (MECP2) was first reported in 1999. Recent reports not only present new insights into the clinical and molecular understanding of this unique disorder but also have important implications for the ne...

Major speech impairment is a cardinal feature of Rett syndrome. Epilepsy, of variable presentation, is also frequently described. We report a girl who presented rapid speech regression while EEG showed continuous spikes and waves during slow sleep. The clinical picture was consistent with Rett syndrome, confirmed by MECP2 mutation R133C. We hypothesized that speech regression was partially rela...