The term phenotype comes to us from the
study of genetics and refers to observable traits, such as height, eye color
and blood type. A person’s phenotype is determined by both their genetic
makeup, which is called their genotype, and by environmental factors.1 Just as physical traits are shaped by the
interplay of genetic factors and the environment, so too can such factors
influence an individual’s tendencies in interactions, responses, and
personality traits. These characteristic
patterns of social, linguistic, cognitive, and motor observations consistently
associated with a biological or genetic conditions are sometimes referred to
behavioral phenotypes.2
This issue of the Positive Approaches Journal
shares insights from several expert and skilled clinicians into biological and
genetic conditions which have been associated with behavioral phenotypes,
including fetal alcohol spectrum disorder, autism, and Down syndrome (trisomy
21). The field of intellectual and
developmental disabilities in general has recognized the associated
characteristic patterns referenced above for various conditions long before the
term behavioral phenotype, or even the modern understanding of genetics, was
developed. Those familiar with the
historical aspects of the field are well aware that past attempts to
characterize patterns in those with conditions or syndromes at times contributed
to mischaracterizations and to damaging stereotypes of individuals.
Great progress in scientific understanding,
due in part to the remarkable Human Genome Project, along with rigorous
research, and an ever-increasing focus on person-centered approaches has
brought forward new understanding to use in supporting and serving individuals
with intellectual disabilities and autism. Any description of behavioral
phenotypes must always be considered in context. Supporters must always remember that
behavioral phenotypes describe “characteristic patterns” or tendencies. These do not describe the individuals
themselves nor define the individuals’ true capabilities or limits to their
potential. At best, this knowledge
becomes a tool to help support an individual and to help promote their own pathway
forward in achieving an Everyday Life.
On behalf of the Office of Developmental Programs and the Office of
Mental Health and Substance Abuse Services, the editorial board of the Positive
Approaches Journal thanks you for your interest. We welcome your comments and feedback.
Gregory Cherpes MD,
NADD-CC
Medical Director
Office of Developmental
Programs
References
1. Phenotype (genome.gov)
2.
O'Brien, G. (2006). Behavioural phenotypes: Causes and clinical
implications. Advances in Psychiatric Treatment, 12(5), 338-348.
doi:10.1192/apt.12.5.338