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Behavioural phenotypes in clinical practice
European Journal of Paediatric Neurology (2003) 7, 194
www.elsevier.com/locate/ejpn
Book Review Behavioural phenotypes in clinical practice Gregory O’Brien (Ed.); Mac Keith Press, London, UK, 2002, 239 pp, hardback, ISBN 1-89868327-1, £45.00 (US$65.00) The book focuses on almost all aspects of behavioural phenotypes—relatively characteristic patterns of motor, cognitive and behavioural features associated with particular genetic syndromes of disability. The main idea of the book is to emphasize the importance of integrated and multimodal approach to the management of behavioural phenotypes thus leading to maximal improvement of motor, cognitive, linguistic and social functions. This kind of approach will be successful only if carried out by a team of professionals and includes physiotherapy, speech/language therapy, educational and behavioural programs. The book begins with the discussion of the utility of the concept of behavioural phenotypes. Then the most common clinical problems are reviewed, including sleep disorders, self-injury, aggression and autism. Particular attention is paid to the issues of pathogenesis and management. The next chapter is dedicated to clinical and laboratory investigations in behavioural phenotypes. Appendix contains the guide for selection and interpretation of specific diagnostic schedules as well as questionnaires and a table summarizing the key clinical features of 35 principal genetic syndromes. Subsequent parts of the book deal with behavioural and pharmacological treatment modalities. The authors provide comprehensive overview of behavioural analysis and behaviour change techniques. The need for consideration of antecedents and consequences of challenging behaviour are outlined. Pharmacological intervention is also one of the key elements of the multimodal treatment strategy. Pharmacotherapy is commonly applied in the number of conditions occurring in the framework of behavioural phenotypes, including anxiety, depression and other mood disorders; attention deficit hyperactivity disorder; schizophrenia and related paranoid psychoses; sleep disorder; aggression; and self-injury. Special
doi:10.1016/S1090-3798(03)00076-X
emphasis is put on the selection of drugs in various genetic disorders. Educational approaches represent another important aspect of management of behaviour phenotypes. Teaching should be tailored to specific cognitive-linguistic profile of the condition as well as individual characteristics of the patient. However, different genetic disorders often share the same behavioural patterns thus leading to similar educational strategies. It is crucial for the effective management of behavioural phenotypes to ensure close cooperation between the clinician and caregivers. The aim of this collaboration is to maximize development, cognitive functioning, social integration and quality of life of affected individual. The last chapter contains brief summaries on epidemiology, etiology, extent of learning disability and also management guidelines of principle genetic syndromes discussed earlier in the book. Each chapter is accompanied by bibliography containing recent publications and some basic earlier works as well. The index is extensive enough. Unfortunately, the book appears to have some disadvantages. It would to be more comfortable for the reader to place the information concerning clinical features of the principle genetic syndromes and the data on epidemiology, etiology and management of the same conditions more closely. The table dedicated to clinical sings of the syndromes (Appendix 3.4) lacks such salient features as lenticular changes and endocrine disorders in myotonic dystrophy and iris hamartomas (Lish nodules) in neurofibromatosis type I. The impact of pharmacological intervention on behavioural phenotypes with autistic features is not discussed. Thus the book really provides in-depth information concerning almost all aspects of behavioural phenotypes and presents a manual for all categories of professionals involved in this area of practice. Arseni Lavrov Clinic for Nervous Diseases I.M. Setchenov Moscow Medical Academy Moscow, Russia
www.elsevier.com/locate/ejpn
Book Review Behavioural phenotypes in clinical practice Gregory O’Brien (Ed.); Mac Keith Press, London, UK, 2002, 239 pp, hardback, ISBN 1-89868327-1, £45.00 (US$65.00) The book focuses on almost all aspects of behavioural phenotypes—relatively characteristic patterns of motor, cognitive and behavioural features associated with particular genetic syndromes of disability. The main idea of the book is to emphasize the importance of integrated and multimodal approach to the management of behavioural phenotypes thus leading to maximal improvement of motor, cognitive, linguistic and social functions. This kind of approach will be successful only if carried out by a team of professionals and includes physiotherapy, speech/language therapy, educational and behavioural programs. The book begins with the discussion of the utility of the concept of behavioural phenotypes. Then the most common clinical problems are reviewed, including sleep disorders, self-injury, aggression and autism. Particular attention is paid to the issues of pathogenesis and management. The next chapter is dedicated to clinical and laboratory investigations in behavioural phenotypes. Appendix contains the guide for selection and interpretation of specific diagnostic schedules as well as questionnaires and a table summarizing the key clinical features of 35 principal genetic syndromes. Subsequent parts of the book deal with behavioural and pharmacological treatment modalities. The authors provide comprehensive overview of behavioural analysis and behaviour change techniques. The need for consideration of antecedents and consequences of challenging behaviour are outlined. Pharmacological intervention is also one of the key elements of the multimodal treatment strategy. Pharmacotherapy is commonly applied in the number of conditions occurring in the framework of behavioural phenotypes, including anxiety, depression and other mood disorders; attention deficit hyperactivity disorder; schizophrenia and related paranoid psychoses; sleep disorder; aggression; and self-injury. Special
doi:10.1016/S1090-3798(03)00076-X
emphasis is put on the selection of drugs in various genetic disorders. Educational approaches represent another important aspect of management of behaviour phenotypes. Teaching should be tailored to specific cognitive-linguistic profile of the condition as well as individual characteristics of the patient. However, different genetic disorders often share the same behavioural patterns thus leading to similar educational strategies. It is crucial for the effective management of behavioural phenotypes to ensure close cooperation between the clinician and caregivers. The aim of this collaboration is to maximize development, cognitive functioning, social integration and quality of life of affected individual. The last chapter contains brief summaries on epidemiology, etiology, extent of learning disability and also management guidelines of principle genetic syndromes discussed earlier in the book. Each chapter is accompanied by bibliography containing recent publications and some basic earlier works as well. The index is extensive enough. Unfortunately, the book appears to have some disadvantages. It would to be more comfortable for the reader to place the information concerning clinical features of the principle genetic syndromes and the data on epidemiology, etiology and management of the same conditions more closely. The table dedicated to clinical sings of the syndromes (Appendix 3.4) lacks such salient features as lenticular changes and endocrine disorders in myotonic dystrophy and iris hamartomas (Lish nodules) in neurofibromatosis type I. The impact of pharmacological intervention on behavioural phenotypes with autistic features is not discussed. Thus the book really provides in-depth information concerning almost all aspects of behavioural phenotypes and presents a manual for all categories of professionals involved in this area of practice. Arseni Lavrov Clinic for Nervous Diseases I.M. Setchenov Moscow Medical Academy Moscow, Russia