Phenotypic and genetic overlap between autistic traits at the extremes of the general population.
OBJECTIVE
To investigate children selected from a community sample for showing extreme autistic-like traits and to assess the degree to which these individual traits--social impairments (SIs), communication impairments (CIs), and restricted repetitive behaviors and interests (RRBIs)--are caused by genes and environments, whether all of them are caused by the same genes and environments, and how often they occur together (as required by an autism diagnosis).


METHODS
The most extreme-scoring 5% were selected from 3,419 8-year-old pairs in the Twins Early Development Study assessed on the Childhood Asperger Syndrome Test. Phenotypic associations between extreme traits were compared with associations among the full-scale scores. Genetic associations between extreme traits were quantified using bivariate DeFries-Fulker extremes analysis.


RESULTS
Phenotypic relationships between extreme SIs, CIs, and RRBIs were modest. There was a degree of genetic overlap between them, but also substantial genetic specificity.


CONCLUSIONS
This first twin study assessing the links between extreme individual autistic-like traits (SIs, CIs, and RRBIs) found that all are highly heritable but show modest phenotypic and genetic overlap. This finding concurs with that of an earlier study from the same cohort that showed that a total autistic symptoms score at the extreme showed high heritability and that SIs, CIs, and RRBIs show weak links in the general population. This new finding has relevance for both clinical models and future molecular genetic studies.
Ronald
Angelica
A
Drs. Ronald, Happé, and Plomin are with the Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London; Dr. Price is with the Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia; and Dr. Baron-Cohen is with the Autism Research Centre, Cambridge University, Cambridge, UK. Electronic address: a.ronald@iop.kcl.ac.uk.
Happé
Francesca
F
Drs. Ronald, Happé, and Plomin are with the Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London; Dr. Price is with the Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia; and Dr. Baron-Cohen is with the Autism Research Centre, Cambridge University, Cambridge, UK.
Price
Thomas S
TS
Drs. Ronald, Happé, and Plomin are with the Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London; Dr. Price is with the Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia; and Dr. Baron-Cohen is with the Autism Research Centre, Cambridge University, Cambridge, UK.
Baron-Cohen
Simon
S
Drs. Ronald, Happé, and Plomin are with the Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London; Dr. Price is with the Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia; and Dr. Baron-Cohen is with the Autism Research Centre, Cambridge University, Cambridge, UK.
Plomin
Robert
R
Drs. Ronald, Happé, and Plomin are with the Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London; Dr. Price is with the Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia; and Dr. Baron-Cohen is with the Autism Research Centre, Cambridge University, Cambridge, UK.
D001321:Autistic Disorder / Q000453:epidemiology* / Q000235:genetics*; D002648:Child; D004777:Environment; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D011159:Population Surveillance / Q000379:methods*; D019956:Stereotypic Movement Disorder / Q000453:epidemiology* / Q000235:genetics*; D011795:Surveys and Questionnaires; D014427:Twins / Q000235:genetics*