Behavioural Phenotypes in Clinical Practice
Authors: Elena Garralda
Journal: Journal of the Royal Society of Medicine (2003)

The search for an explanation is part of the way parents try to come to terms with having a mentally disabled child. Whilst most explanatory value will come from the identification of genetic, neurological and other medical syndromes, an understanding of characteristic behavioural patterns can also be helpful to parents as well as clinicians. In his introduction to the second edition of Behavioural Phenotypes in Clinical Practice, Dr O'Brien says that many people responded to the first edition with the question, ‘Very interesting, but what do I do about it?’. Accordingly, this new edition gives more attention to management implications.

Does it succeed in assisting management? It does insofar as it describes behavioural phenotypes to inform assessment and management, and it gives helpful general advice for treating associated behavioural problems. Behavioural phenotypes are defined here in terms of motor, cognitive, linguistic and social observations consistently associated with biological disorders. In some instances they will constitute a psychiatric disorder, but generally they do not. The domains addressed are behavioural problems such as aggression and self-injury, sleep and circadian rhythms, eating behaviour, mood, language, motor and social function, autism and sexual function. One is left with doubts about the specificity and boundaries of these phenotypes. Many behavioural features recur across syndromes, none are pathognomonic and differences between syndromes seem often based on qualitative rather than quantitative information. Whilst there is discussion of the advantages and disadvantages of a diagnostic approach to behavioural phenotypes, the validity of such approaches is not fully discussed. Questions about validity might perhaps equally apply to physical features, but this is not within the remit of this book.

The assessment section helpfully emphasizes the importance of performing quantitative assessments of intellectual function and of social and self-care skills. The list of measures to assess psychological problems is less relevant, in that some demand complex research instruments not appropriate for routine clinical use.

The chapters on management tend to be quite broad and would apply to many conditions associated with learning disability. Even so, they contain much helpful guidance. They address psychoeducation and counselling, behavioural treatments and medication. They are predominantly symptom-based and generic rather than syndrome-based, except when it comes to associated psychiatric disorders with specific drug treatments. The chapter on counselling highlights the fact that many parents will have obtained information about behavioural syndromes from internet information and patient support group publications and will wish to discuss implications. The chapter on education points to the various techniques required to reflect the way in which different intellectual strengths and weaknesses affect learning—for example the special weakness in sequential processing but relative strength in simultaneous processing seen in fragile X syndrome and Prader—Willi syndrome; the weakness in language and auditory short-term memory but relative strength in visual memory in Down syndrome. The last chapter is a detailed description of different syndromes with a special section outlining the management of the more common behavioural problems.

Overall this is a helpful update, and a good source of guidance for the clinician on often rare disorders of uncertain specificity.