SCIENCE • MALE & FEMALE AUTISM
X, Y, and Autism AUTHOR: V. F.
The ABC of ASD Today, as much as 1% of the population
causes of autism. On top of this, sex and
carries the diagnosis of autism or autistic
gender differences in the manifestation of
spectrum disorder (ASD), which is
the disorder further complicate the matter.
described by the American Psychiatric Association (APA) as “a
Genetics plays a major role in the
neurodevelopmental syndrome
development of ASD, but the impact of
characterized by difficulties with social
environmental factors cannot be
reciprocity, social communication,
understated. Even if some ASD-specific
flexibility, and sensory processing”.
alleles have already been identified, the
Moreover, individuals with ASD have
exact genotypic profile is still to be
varying language skills, with the two
mapped. The only fact that is clear so far,
extremities being completely absent
is that the mode of inheritance is not
speech and fluent language. This is where
Mendelian, with identical mutations
the term ”spectrum” comes into play:
potentially being associated with highly
autism is a continuum of developmental
varying phenotypes. De novo mutations
and cognitive states often accompanied by
further play a significant role in the
comorbidities such as epilepsy and other
development of the disorder along with the
physical and psychiatric abnormalities.
identified inherited mutations.
Cognitive development may also vary
6
dramatically, with all the possible
Generally, the age of diagnosis for ASD is
conditions from profound intellectual
relatively high since, at the time of writing,
disability to above-average intelligence.
the diagnosis is still set on a purely
Thus, in the same way that no two
behavioral basis. On average, autistic
snowflakes are identical, no two patients
people receive their diagnosis after the
with ASD will show exactly the same
age of 3 or 4. This is, however, not always
phenotype. The extreme clinical
the case. As will be discussed later, one of
heterogeneity of the disorder is probably
the big challenges with female autism lies
one of the primary obstacles in
in the comparatively higher age of
understanding the pathophysiology and
diagnosis than for males.
medicor • 2021 | ISSUE 1
