Journal of Intellectual Disability Research doi: 10.1111/j.1365-2788.2006.00869.x

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Book review

Book reviewBook review

Book review

Velo–Cardio–Facial Syndrome: A Model for Understanding Microdeletion Disorders

Kieran C. Murphy & Peter J. Scambler (eds)

Cambridge University Press, Cambridge. 2005. 243 pp., £65.00 (hbk). ISBN 139780521821851.

Velo–Cardio–Facial Syndrome (VCFS) is a genetic disorder with a wide range of associated features. Clinicians began to describe patients with the syn-drome in the

s, although the term VCFS itself was not coined until the

s. Research interest increased significantly in the

s when, following great advances in molecular genetics at the time, it was discovered that the disorder is caused by the deletion of chromosome

q

.

. The resulting hap-loinsufficiency (reduced gene dosage) of one or prob-ably several genes in this region is widely thought to cause problems in fetal development (probably of neural crest cell origin) leading to multiple anoma-lies. VCFS is the most common interstitial deletion syndrome known, with incidence of approximately

in

births. Most cases of VCFS arise from

de novo

mutations, although it is inherited in an autosomal dominant pattern (although not strictly so because VCFS is unlikely to be a single gene syndrome). Although the phenotype is of variable expression, VCFS can affect every major system in the body; there have been more than

associated anomalies reported, especially cardiac (over

%), endocrine and immunological abnormalities, as well as speech and language disorders.

In

, it was reported that VCFS, and other closely related syndromes such as Di George syn-drome, all shared similar microdeletions in the region of chromosome

q

.

. Now VCFS is gen-

erally accepted as the prevailing term for this and the other variants previously described, including the recent suggested acronym of CATCH

, a title Sprintzen condemns in his opening chapter of his-torical review as one that is insulting to the suffer-ers and their families. After Prescott and Scambler’s chapter on the molecular genetics of VCFS, which includes a consideration of the likely candidate gene(s) causing the anomalies, the book provides an account of the full clinical impact of VCFS. There are chapters considering all its major manifesta-tions, including cardiac, ear, nose and throat (ENT), urological, gastrointestinal and opthalmo-logical and immune deficiency features. There are also chapters describing genetic counselling for VCFS and discussing its impact on families.

Three chapters will probably be of most interest to the readership of the special issue of the JIDR. Stevens and Murphy review the strong association of VCFS with psychiatric disorders. In children, atten-tion deficit hyperactivity disorder, anxiety and affec-tive disorders are associated with VCFS. It is though the association of schizophrenia in adults with VCFS that has made this genetic syndrome so interesting for mental health researchers. The frequency of schizophrenia is increased in VCFS, there is increased frequency of VCFS in people with schizophrenia, and linkage studies have provided evidence for a suscep-tibility locus for non-VCFS related schizophrenia on

q

. In their chapter describing the cognitive spec-trum in the syndrome, Campbell and Swillen argue that there is evidence for a specific profile, with par-ticular verbal, visuospatial and mathematical impair-ments. Eliez and van Amelsvoort then review the evidence base from neuroimaging, including those studies that have examined people with VCFS and

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schizophrenia and those that have examined VCFS alone.

It is important to remember that the mean IQ of people with VCFS is

. Thus, many adults with VCFS will have significant intellectual disabilities, but many will have IQ in the normal range. Those in the mental health in intellectual disability field read-ing this book must therefore always consider the research evidence cited carefully, for as so often, those with IQ less than

were excluded from many

of the reported studies. However, this book should be of value both to clinicians seeing VCFS patients and to all those with interests in the genetics of psy-chosis and cognitive impairment.

Colin Hemmings

Estia Centre

Institute of Psychiatry

King’s College London