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BOOK REVIEW
Year : 2013  |  Volume : 138  |  Issue : 1  |  Page : 153-154

Old and new entities with Rett or Angelman syndrome - like intellectual disability


Learning Disability Clinic, Division of Pediatric Neurology, Department of Pediatrics, Lokmanya Tilak Municipal Medical College & General Hospital, Mumbai 400 020, India

Date of Web Publication6-Aug-2013

Correspondence Address:
Madhuri Kulkarni
Learning Disability Clinic, Division of Pediatric Neurology, Department of Pediatrics, Lokmanya Tilak Municipal Medical College & General Hospital, Mumbai 400 020
India
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Kulkarni M. Old and new entities with Rett or Angelman syndrome - like intellectual disability. Indian J Med Res 2013;138:153-4

How to cite this URL:
Kulkarni M. Old and new entities with Rett or Angelman syndrome - like intellectual disability. Indian J Med Res [serial online] 2013 [cited 2020 Aug 12];138:153-4. Available from: http://www.ijmr.org.in/text.asp?2013/138/1/153/116213

Old and new entities with Rett or Angelman syndrome - like intellectual disability, A. Rauch, editor (Karger, Basel, Switzerland) 2012. 142 pages. Price: not mentioned.

ISBN 978-3-8055-9968-9

Angelman and Rett syndromes remain the major genetic disorders associated with mental retardation or intellectual disability (ID) in absence of metabolic markers, gross malformations and major dysmorphic features. There are 12 articles that give reviews of different syndromes in detail. All the syndromes described in this book have a common factor of varying degree of intellectual disability. The articles describe the consensus criteria for clinical dignosis of these two syndromes. There is a detailed description of genetic studies carried out in patients presenting with Angelman syndrome, Rett syndrome and many other Rett-like symdromes.

Molecular biology of UBE3A, MECP2, CDKL5, FOXG1, MEF2C, TCF4, CNTNAP2, NRXN1,22q13.3, EHMT1, FOX P1 and SCN1A and the disorders caused by mutations of these genes are described well in the respective articles. It is interesting to read the history of the syndromes and clinical details of patients studied. Clinical photographs help to identify minor dysmorphic features associated with the well-known disorders and new syndromes described in the articles.

All articles give schematic diagrams of gene abnormalities observed in these disorders. An extensive description of molecular studies of these disorders will be of great benefit to the researchers in the field of mental retardation / intellectual disabilities. Most articles describe genetic counselling and prenatal diagnosis whenever possible. The list of references at the end of each article is exhaustive.

The following [Table 1] provides a summary of information given in the 12 articles
Table 1:

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The articles are written in a simple and lucid language. Most studies add new knowledge to the existing understanding of the syndromes. However, there is repetition of description of Rett syndrome, which could have been avoided.

Natural history, diagnostic testing, genotype-phenotype correlation and differential diagnosis of Angelman syndrome are well described in the first article. Article 2 describes the diagnostic criteria and staging system of clinical symptoms in details. Article on MECP2 duplication syndrome clearly describes clinical features, neuro-radiological features and genotype-phenotype correlation. Article on CDKL5-related disorders gives an overview of clinical features, neuro-radiological features, structure and function of CDKL5 gene. Clinical features of disorder related to chromosome 14q 12 and the structure and function of FOXG1 gene are well described in article on FOXG1 related disorders. Article on Pitt Hopkin syndrome describes clinical features with photographs, natural history and diagnosis in detail. History of 22q13.3 deletion syndrome along with clinical features, photographs, differential diagnosis and natural history is very well described in the article related to Phelan-Mc Dermid syndrome. Article on Kleefstra syndrome lucidly describes molecular data and clinical data with photographs of patients diagnosed with EHMT1 gene abnormalities.

The editor has done an excellent work of compiling these articles and presenting these in a uniformly systematic pattern. It is interesting to learn about extensive genetic studies carried out by researches of European Union.



 
 
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