Rett Syndrome - Clinical and Biological Aspects

Rett syndrome - clinical and biological aspects.

Clinical Aspects of Rett Syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder and is the second most common form of severe mental retardation in females. RTT affects 1 in 8,000 births by the age of 15 and does not discriminate between racial or ethnic groups. It is a devastating condition characterised by progressive loss of speech and movement and the development of intellectual disability at a very young age. ...

Rett syndrome: clinical and electrophysiologic aspects.

Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. The clinical course as well as the electroencephalogram pattern are characteristic and have been correlated to the clinical stages of the disease. Sixty to 70 percent of the patients develop epilepsy. The aim of this retrospective study was to investigate the correlation between clinical stages and electroen...

Rett syndrome: clinical and epidemiological aspects in a Brazilian institution.

Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend--learning, hand use and speech--leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. ...

Male Equivalent Polycystic Ovarian Syndrome: Hormonal, Metabolic and Clinical Aspects

Recent studies identified the presence of a male polycystic ovarian syndrome (PCOS), which mainly affects men whose female relatives are afflicted with PCOS, caused by genes responsible for the susceptibility of this syndrome in women. Similar hormonal, metabolic, and clinical alterations occurring in PCOS women have also been reported in their male relatives, suggesting a association between t...