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eight children and caring for her gradually more mentally disturbed husband Robert Schumann (1810–1856). In summary, in spite of the limited examples of paedia- tric disabilities or sufferings, these books are highly recommended to anyone interested in the fascinating interface between artistic creativity and neurological or neuropsychiatric dysfunctions. The editors have accom- plished an impressive and comprehensive review of renowned artist and their specific personalities. Carl Lindgren [email protected] DOI:10.1111/j.1651-2227.2011.02154.x Genetics of Mental Retardation – An Overview Encom- passing Learning Disability and Intellectual Disability. Edited by Knight Samantha JL. In: Monographs in Human Genetics, edited by M. Schmid. Vol 18. XII+166p., 31 fig., 15 in colour, 12 tab., hard cover. Karger 2010. 168, $US 235. ISBN 978-3-8055-9280-2, e-ISBN 978-3-8055-9281-09. This is the 18th book in the series Monographs in Human Genetics which is devoted to genetics of mental retardation. It covers all new techniques in the modern work of clinical genetics. The book is divided into 13 different chapters by 13 different authors or group of authors. Mental retardation has scientifically been studied extensively over a long time. During the last years, the technology revolution in the mole- cular genetic field has improved the diagnostic capability in clinical genetics. As a result, gene mutations and structural rearrangements of the genome are today known to be the most important factor in the aetiology and understanding of developmental delay. Genetic studies of mental retardation are very important for genetic counselling. They can provide the basis for accurate prognostic information, development of guidelines for clinical care and to fulfil and educational needs and to be the backbone when considering future pre- ventive and therapeutics regimes. In Chapter 1, a parent’s perspective of a daughter with mental retardation is presented. It took a long time to get the correct diagnosis of this girl. The mother strongly demonstrates the importance of getting a diagnose of the child for the medical care and for the family planning in the future. In Chapter 2, definition and classification as well as the aetiology of mental retardation are presented. The negative perceptions associated with the term mental retardation are discussed, but as there is no better word, the editor did chose to continue with this word in this book. This chapter is the only one that covers the syndromes of mental retarda- tion, which are well known since a long time back, such as Down syndrome and Fragile X syndrome. The value of the present book had increased if more efforts had been put to cover the knowledge about those syndromes. There are medical care programme for most of those syndromes which could have been presented here. In Chapter 3, the technology advances such as subtelo- meric fluorescent in situ hybridization (FISH) and array comparative genomic hybridization are described. Advan- tages and disadvantages of FISH, multiplex ligation-depen- dent probe amplification as well as micro array analysis are presented. Copy number variations are discussed, and both the benign as well as the pathologic variations are presented. In chapter 4, the importance of the genomic architecture in mental retardation is discussed. The genomic features associated with genomic instability and recurrent rearrange- ments are reviewed. In one table, the clinical and genomic features associated with 33 well-known genomic disorders, such as William, Sotos, Angelman and Prader-Willi syn- dromes, are presented. Chapter 5 covers the clinical evaluation, including the psychometric tests that are used for diagnosis of mental retardation. The definition of mental retardation is described as well as the degrees of MR according to DSM- IV. A diagnostic flow chart in patients with MR is presented. In Chapter 6, the help one can get from databases for eva- luation of mental retardation is described. By collecting phenotypes with genotypes, it will become possible in the future to understand genetic causes of mental retardation. A summary of relevant databases with web-links is reviewed. In Chapter 7, the new 3D shape analyses of facial dysmor- phology associated with cognitive developmental disorders is described. This method will perhaps in the future become a valuable method for distinguishing syndromes in patients, but is still not very useful in the daily routine work of paediatrics. In chapter 8, several monogenic causes of mental retarda- tion are presented. Especially X-linked disorders are dis- cussed. To date, more than 80 genes on the X chromosome have been identified where a mutation results in syndromic or non-syndromic mental retardation. It is likely that muta- tions in more than 1400 genes on the autosomes give rise to mental retardation. Although many genes have been identi- fied, the biological mechanism by which each gene causes disease is, however, still poorly understood. In Chapter 9, newly recognized mental retardation micro- deletion duplication syndromes are presented and in Chap- ter 10 Mendelian copy number variants (CNVs) causing Book Reviews Book Reviews ª2011 The Author/Acta Pædiatrica ª2011 Foundation Acta Pædiatrica 2011 100, pp. 629–630 629

Genetics of Mental Retardation – An Overview Encompassing Learning Disability and Intellectual Disability

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Page 1: Genetics of Mental Retardation – An Overview Encompassing Learning Disability and Intellectual Disability

eight children and caring for her gradually more mentallydisturbed husband Robert Schumann (1810–1856).

In summary, in spite of the limited examples of paedia-tric disabilities or sufferings, these books are highlyrecommended to anyone interested in the fascinatinginterface between artistic creativity and neurological orneuropsychiatric dysfunctions. The editors have accom-plished an impressive and comprehensive review ofrenowned artist and their specific personalities.

Carl [email protected]

DOI:10.1111/j.1651-2227.2011.02154.x

Genetics of Mental Retardation – An Overview Encom-passing Learning Disability and Intellectual Disability.Edited by Knight Samantha JL. In: Monographs in HumanGenetics, edited by M. Schmid. Vol 18. XII+166p., 31 fig., 15in colour, 12 tab., hard cover. Karger 2010. €168, $US 235.ISBN 978-3-8055-9280-2, e-ISBN 978-3-8055-9281-09.

This is the 18th book in the series Monographs in HumanGenetics which is devoted to genetics of mental retardation.It covers all new techniques in the modern work of clinicalgenetics. The book is divided into 13 different chapters by13 different authors or group of authors. Mental retardationhas scientifically been studied extensively over a long time.During the last years, the technology revolution in the mole-cular genetic field has improved the diagnostic capability inclinical genetics. As a result, gene mutations and structuralrearrangements of the genome are today known to be themost important factor in the aetiology and understanding ofdevelopmental delay. Genetic studies of mental retardationare very important for genetic counselling. They can providethe basis for accurate prognostic information, developmentof guidelines for clinical care and to fulfil and educationalneeds and to be the backbone when considering future pre-ventive and therapeutics regimes.

In Chapter 1, a parent’s perspective of a daughter withmental retardation is presented. It took a long time to getthe correct diagnosis of this girl. The mother stronglydemonstrates the importance of getting a diagnose of the

child for the medical care and for the family planning in thefuture.

In Chapter 2, definition and classification as well as theaetiology of mental retardation are presented. The negativeperceptions associated with the term mental retardation arediscussed, but as there is no better word, the editor didchose to continue with this word in this book. This chapteris the only one that covers the syndromes of mental retarda-tion, which are well known since a long time back, such asDown syndrome and Fragile X syndrome. The value of thepresent book had increased if more efforts had been put tocover the knowledge about those syndromes. There aremedical care programme for most of those syndromeswhich could have been presented here.

In Chapter 3, the technology advances such as subtelo-meric fluorescent in situ hybridization (FISH) and arraycomparative genomic hybridization are described. Advan-tages and disadvantages of FISH, multiplex ligation-depen-dent probe amplification as well as micro array analysis arepresented. Copy number variations are discussed, andboth the benign as well as the pathologic variations arepresented.

In chapter 4, the importance of the genomic architecturein mental retardation is discussed. The genomic featuresassociated with genomic instability and recurrent rearrange-ments are reviewed. In one table, the clinical and genomicfeatures associated with 33 well-known genomic disorders,such as William, Sotos, Angelman and Prader-Willi syn-dromes, are presented.

Chapter 5 covers the clinical evaluation, including thepsychometric tests that are used for diagnosis of mentalretardation. The definition of mental retardation isdescribed as well as the degrees of MR according to DSM-IV. A diagnostic flow chart in patients with MR ispresented.

In Chapter 6, the help one can get from databases for eva-luation of mental retardation is described. By collectingphenotypes with genotypes, it will become possible in thefuture to understand genetic causes of mental retardation. Asummary of relevant databases with web-links is reviewed.In Chapter 7, the new 3D shape analyses of facial dysmor-phology associated with cognitive developmental disordersis described. This method will perhaps in the future becomea valuable method for distinguishing syndromes in patients,but is still not very useful in the daily routine work ofpaediatrics.

In chapter 8, several monogenic causes of mental retarda-tion are presented. Especially X-linked disorders are dis-cussed. To date, more than 80 genes on the X chromosomehave been identified where a mutation results in syndromicor non-syndromic mental retardation. It is likely that muta-tions in more than 1400 genes on the autosomes give rise tomental retardation. Although many genes have been identi-fied, the biological mechanism by which each gene causesdisease is, however, still poorly understood.

In Chapter 9, newly recognized mental retardation micro-deletion ⁄ duplication syndromes are presented and in Chap-ter 10 Mendelian copy number variants (CNVs) causing

Book Reviews Book Reviews

ª2011 The Author/Acta Pædiatrica ª2011 Foundation Acta Pædiatrica 2011 100, pp. 629–630 629

Page 2: Genetics of Mental Retardation – An Overview Encompassing Learning Disability and Intellectual Disability

mental retardation and developmental disorders are dis-cussed. In Chapter 11, genetic overlaps related to CNVs inmental retardation, autism and schizophrenia are discussed.One region on chromosome 22q13 where rearrangementsoften occurs has been found to be implicating in causingdevelopmental delay and autistic spectrum disorder is pre-sented in detail in Chapter 12. An example is the very dis-tinct constitutional deletion of 22q13 that result in thePhelan-McDermal syndrome.

Finally, in Chapter 13, the advances in genetic researchand in the translation into clinical diagnostics and in healthservices are discussed.

The quality varies between the chapters. In three chap-ters, CNV are described and discussed, which is goodbecause this is the new issue in genetic diseases. This makesthe book important for clinical geneticists working in thefield of paediatric genetics. Disorders, such as Down syn-drome and Fragile X syndrome, which were described for arather long time ago are however more scarcely described.This is a problem and makes the book less valuable for gen-eral paediatricians.

Goran [email protected]

Book Reviews Book Reviews

630 ª2011 The Author/Acta Pædiatrica ª2011 Foundation Acta Pædiatrica 2011 100, pp. 629–630