BEHAVIOURAL
PHENOTYPES & THEIR RELEVANCE TO PEOPLE
WITH
DEVELOPMENTAL DISABILITIES & MENTAL HEALTH
CHALLENGES
J.
Turk
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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