Abstract of J. Turk lecture


J. Turk
St. George's & Institute of Psychiatry, University of London, UK

A behavioural phenotype describes psychiatric, psychological &
behavioural aspects attributable to underlying biological (usually
genetic) conditions usually occurring early in development. Many
conditions have characteristic developmental & psychological features
which are important diagnostically & therapeutically. Diagnosis is
crucial for the following reasons: individual’s & family’s basic right to
know, relief from uncertainty regarding cause of disabilities, facilitation
of grief resolution, focusing towards future, possible genetic
counselling for extended family, information on likely strengths &
needs, instigation of interventions relevant to strengths & needs,
potential for identifying with & belonging to support groups.
Behavioural phenotypes often comprise challenging behaviours,
autism & ADHD. Frequently there are characteristic social,
communicatory & attentional profiles not necessarily fulfilling
psychiatric diagnostic criteria. There is a conceptual clash between
clinical diagnoses such as Autism & ADHD, & characteristic signature
profiles of social, communicatory, attentional cognitive & other
psychological functions witnessed in specific genetic variations. This is
exemplified by individuals with Down Syndrome, Fragile X Syndrome
& Smith-Magenis Syndrome to name but a few. Responsibilities of
professionals include: alertness to biological contributions to
behavioural disturbance, knowledge to advise & counsel about
biopsychosocial interactions, knowledge to assist others in developing
multimodal support packages, facilitating clinical genetic involvement,
maintaining a balanced view of biological, psychological & social
issues. The talk presents new research & clinical data to increase
awareness of prevalence, nature & presentation of behavioural
phenotypes & why they are important diagnostically & therapeutically.

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