Current Problems of Psychiatry

Current Problems of Psychiatry

Silent angels; the genetic and clinical aspects of Rett syndrome

Milczące anioły, aspekty genetyczne i obraz kliniczny zespołu Retta (Rett syndrome)

CASE REPORT
Curr Probl Psychiatry 2016; 17(4): 282-296
DOI: 10.1515/cpp-2016-0028
© 2016 Medical University of Lublin. This is an open access article distributed under the Creative CommonsAttribution-NonComercial-No Derivs licence (http://creativecommons.org/licenses/by-nc-nd/3.0/)

Ewelina Dziwota1, Urszula Fałkowska2, Katarzyna Adamczyk2, Dorota Adamczyk2,
Alena Stefańska3, Justyna Pawęzka1, Marcin Olajossy1

1 Second Department of Psychiatry and Psychiatric Rehabilitation, Department of Psychiatry at the Medical University of Lublin
2 Students Scientific Society at the Second Department of Psychiatry and Psychiatric Rehabilitation
3 Department of Clinical Psychology and Cardiology, Medical University, Lublin

Abstract

Rett syndrome is a neurodevelopmental genetic disorder and, because of some behavioral characteristics, individuals affected by the disease are known as silent angels. Girls with Rett syndrome perform stereotyped movements, they have learning difficulties, their reaction time is prolonged, and they seem alienated in the environment. These children require constant pediatric, neurological and orthopedic care. In the treatment of Rett syndrome physical therapy, music therapy, hydrotherapy, hippotherapy, behavioral methods, speech therapy and diet, are also used. In turn, psychological therapy of the syndrome is based on the sensory integration method, using two or more senses simultaneously. In 80% of cases, the syndrome is related to mutations of the MECP2 gene, located on chromosome X. The pathogenesis of Rett syndrome is caused by the occurrence of a non-functional MeCP2 protein, which is a transcription factor of many genes, i.e. Bdnf, mef2c, Sgk1, Uqcrc1. Abnormal expression of these genes reveals a characteristic disease phenotype. Clinical symptoms relate mainly to the nervous, respiratory, skeletal and gastrointestinal systems. Currently causal treatment is not possible. However, researchers are developing methods by which, perhaps in the near future, it will be possible to eliminate the mutations in the MECP2 gene, and this will give a chance to the patient for normal functioning.
The paper presents the etiology and pathogenesis of the disease, genetic, clinical, pharmacological aspects and other forms of Rett syndrome treatment.

Keywords

Rett syndrome, ASD, MECP2 gene, MeCP2 protein

Słowa kluczowe

zespół Retta, ASD, gen MECP2, białko MeCP2

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