Rezumat: Autism is an etiologically and clinically heterogeneous
group of disorders, diagnosed solely by the complex
behavioral phenotype. On the basis of the high-heritability
index, geneticists are confident that autism will be the
first behavioral disorder for which the genetic basis can
be well established. Although it was initially assumed
that major genome-wide and candidate gene association
studies would lead most directly to common autism genes,
progress has been slow. Rather, most discoveries have come
from studies of known genetic disorders associated with
the behavioral phenotype. New technologies, especially
array chromosomal genomic hybridization (aCGH) and
next generation sequencing (NGS), have both increased
the identification of putative autism genes and raised to
approximately 20% the percentage of children for whom
an autism-related genetic change can be identified.
Incorporating clinical geneticists into the diagnostic and
autism research arenas is vital to the field. Interpreting this
new technology and deciphering autism’s genetic montage
require the skill set of the clinical geneticist including
knowing how to acquire and interpret family pedigrees,
how to analyze complex morphologic, neurologic, and
medical phenotypes, sorting out heterogeneity, developing
rational genetic models, and designing studies. The current
emphasis on deciphering autism spectrum disorders has
accelerated the field of neuroscience and demonstrated the
necessity of multidisciplinary research that must include
clinical geneticists both in the clinics and in the design and
implementation of basic, clinical, and translational research. Cuvinte cheie: autism spectrum disorders,
autism genes, prenatal diagnosis.