Rett syndrome: A rare case
Rett syndrome (RTT) is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modific...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Medical Journal of Dr. D.Y. Patil University |
| Subjects: | |
| Online Access: | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2016;volume=9;issue=2;spage=241;epage=243;aulast=Verma |
| _version_ | 1819149165464125440 |
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| author | Deepika Verma Daniel Saldanha Aneek Saha Kushagra Verma |
| author_facet | Deepika Verma Daniel Saldanha Aneek Saha Kushagra Verma |
| author_sort | Deepika Verma |
| collection | DOAJ |
| description | Rett syndrome (RTT) is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modifications in neuronal function. We report a case of RTT in a 7-year-old female child and use of behavioral techniques and social skill training to control the behavioral symptoms. |
| first_indexed | 2024-12-22T13:57:16Z |
| format | Article |
| id | doaj.art-e66ca1ec53784480aa0031db351dc376 |
| institution | Directory Open Access Journal |
| issn | 0975-2870 |
| language | English |
| last_indexed | 2024-12-22T13:57:16Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Medical Journal of Dr. D.Y. Patil University |
| spelling | doaj.art-e66ca1ec53784480aa0031db351dc3762022-12-21T18:23:32ZengWolters Kluwer Medknow PublicationsMedical Journal of Dr. D.Y. Patil University0975-28702016-01-019224124310.4103/0975-2870.177675Rett syndrome: A rare caseDeepika VermaDaniel SaldanhaAneek SahaKushagra VermaRett syndrome (RTT) is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modifications in neuronal function. We report a case of RTT in a 7-year-old female child and use of behavioral techniques and social skill training to control the behavioral symptoms.http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2016;volume=9;issue=2;spage=241;epage=243;aulast=VermaMethyl-C-phosphate-G-binding protein 2Rett syndromemental retardation |
| spellingShingle | Deepika Verma Daniel Saldanha Aneek Saha Kushagra Verma Rett syndrome: A rare case Medical Journal of Dr. D.Y. Patil University Methyl-C-phosphate-G-binding protein 2 Rett syndrome mental retardation |
| title | Rett syndrome: A rare case |
| title_full | Rett syndrome: A rare case |
| title_fullStr | Rett syndrome: A rare case |
| title_full_unstemmed | Rett syndrome: A rare case |
| title_short | Rett syndrome: A rare case |
| title_sort | rett syndrome a rare case |
| topic | Methyl-C-phosphate-G-binding protein 2 Rett syndrome mental retardation |
| url | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2016;volume=9;issue=2;spage=241;epage=243;aulast=Verma |
| work_keys_str_mv | AT deepikaverma rettsyndromeararecase AT danielsaldanha rettsyndromeararecase AT aneeksaha rettsyndromeararecase AT kushagraverma rettsyndromeararecase |