Behavioural Phenotypes: Goals and Methods

Abstract

The field of behavioural phenotypes involves the study of the cognitive and behavioural characteristics associated with genetic syndromes, leading to a fuller understanding of people with syndromes, and permits advances in knowledge regarding both atypical and typical human development. However, behavioural phenotypes offer a number of practical challenges. Behavioural phenotypes can be difficult to measure or even to define. Efforts to study gene–behaviour correlations require researchers to synthesise techniques and data from diverse fields, ranging from statistics to clinical diagnostics. In the course of behavioural phenotype studies researchers must also contend with pervasive biases emerging from ascertainment methods, choice of statistical cohorts or control groups, and so on. In addition to these difficulties, researchers also contend with bioethical difficulties arising from tasks such as studying cognitively impaired subjects.

Key Concepts:

  • Behavioural phenotypes are essential to the study of many genetic syndromes.

  • There is often a range of behavioural phenotypes associated with a genetic syndrome.

  • Behavioural phenotype studies have made important contributions to developmental biology.

  • Research into behavioural phenotypes involves a range of methodological challenges, especially the need for interdisciplinary collaboration.

  • Research into behavioural phenotypes introduces a wide variety of ethical challenges, as gene–behaviour associations can have social repercussions.

Keywords: behavioural phenotypes; cognition; behaviour; genetic syndromes; genotype–phenotype correlations; intellectual impairment

Figure 1.

An autistic child with a teacher. Reproduced from Spence and Thurm , with permission from Elsevier.

Figure 2.

Disease progression in Huntington disease patients. Reproduced from Walker , with permission from Elsevier.

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Further Reading

Burack JA, Hodapp RM and Zigler E (eds) (1998) Handbook of Mental Retardation. Cambridge, UK: Cambridge University Press.

Dykens EM and Hodapp RM (2001) Research in mental retardation: toward an etiologic approach. Journal of Child Psychology and Psychiatry 42: 49–71.

Finegan JK (1998) Study of behavioral phenotypes: goals and methodological considerations. American Journal of Medical Genetics 81: 148–155.

Goldstein S and Reynolds CR (eds) (1999) Handbook of Neurodevelopmental and Genetic Disorders in Children. New York: Guilford Press.

O'Brien G and Yule G (eds) (1995) Behavioral Phenotypes. Cambridge, UK: Cambridge University Press.

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Lloyd, Elisabeth A, and Valles, Sean(Nov 2010) Behavioural Phenotypes: Goals and Methods. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005856.pub2]