CDC reported prevalence was 1 in 150 children. Today, because of
greater awareness with earlier diagnosis, the prevalence is reported
to be 1 in 68 children. ASD is found equally in all racial or ethnic
groups, but it is five times more common in boys. Nearly 83 percent
of children with ASD have a comorbid neurologic or developmental
disorder. Some one in ten children with ASD may have psychiatric
disabilities. But nearly half of children with ASD have average or
above average intelligence, yet because of communication disability,
they may originally be diagnosed with intellectual impairment or
psychiatric dysfunction.
Autism Spectrum Disorder is the phenotypic expression of a
pervasive neurologic disorder, thus the etiology is not singular.
Spectrum is the key word: actual behavior and life experiences vary
considerably. The individual with ASD may be considered “high
functioning” i.e. able to integrate into society, learning the areas of
communication that are best avoided. Or he may be very withdrawn,
needing physical as well as emotional support. Just as with other
conditons, there may be a combination of genetic and external
factors causing the expression of ASD, including social influences.
Genetic conditions such as Fragile X syndrome (ASD, intellectual
impairment, and large ears) have a distinct genetic component.
ASD is more commonly found in children with tuberous sclerosis
or idiopathic seizure disorder than in the general population. On
the other hand, in children who are identical twins, there is variable
expression of the symptoms of ASD. The disorder is felt to be a
life-long condition that impacts the individual’s capacity to communicate orally, interact socially, and manage repetitive behaviors.
People with ASD are more likely to have seizure disorders, as ASD
is among the more common neurobehavioral comorbidities of
children with active epilepsy. Children with ASD are more subject
to sleep disorders and gastrointestinal symptoms. Drug therapy does
not improve the ASD, but may be appropriate for any secondary
medical conditions.
While there is no cure for ASD, there are an increasing number of
studies that demonstrate early intervention by a multidisciplinary
team of family members with pediatricians/family physicians, specialized behavioral health experts, and geneticists may result in
overall better outcomes. This team with the family may pursue a
“medical path” or a “social path.” Within the Autism community,
there are those who define themselves as “people with autism” and
those who call them themselves “Autistic people.”
The advocacy group, Autism Self-Advocacy Network (autisticadvocacy.org) recognizes the label “autistic person” is a way of
self-identification. Advocacy groups then promote the individual’s
recognition of the condition and functioning in life with it. This is
the social and behavioral response to the label in a fashion similar
to advocacy groups for LGBT or ethnic minorities. This allows the
individual to feel a part of a virtual community—something that is
more difficult for them to achieve in a physical environment. Matt
Cottle of Arizona’s Stuttering King Bakery (stutteringkingbakery.
com) has developed high success on social media as he has celebrated his label in cooking, just as my patient has in writing. For
many individuals this is the better approach to life as an autistic
individual. As she told me, “It is a wonderful relief to have a name
for a part of yourself that you were not sure what to call. We are
proud to be Autistic.”
There are others who prefer “people with autism” in recognition
that they are people first and that they have a neurologic condition.
This carries ASD to the medical model - establish a diagnosis and
develop a therapy path. Living here in Philadelphia, I have developed a working relationship with the Genetic Clinics at Geisinger
Medical Center in Danville, Pa. and with their counterparts at
Children’s Hospital of Philadelphia, where I trained. Both centers
recognize that genetic testing for specific conditions such as Fragile
X as well as with micro array analysis can achieve as high as 30%
percent accuracy in predicting future ASD expression in infants
where there is high degree of concern. Families accepting of this
medical model and having genetic testing may not fully benefit
unless they get their child into a multidisciplinary team approach
that includes the family. That team must respect the cultural values
of the family but cannot have all of the therapeutics dictated by the
family. Studies show that by use of practice guidelines developed
through the American College of Medical Genetics, that there can
be improvement in clinical outcomes.
AS SHE TOLD ME, “IT IS A
WONDERFUL RELIEF TO HAVE A
NAME FOR A PART OF YOURSELF
THAT YOU WERE NOT SURE WHAT
TO CALL. WE ARE PROUD TO BE
AUTISTIC.”
As a primary care physician, the early role is gaining trust so as
to better have the conversation with the patient with ASD. What
are their goals? Do they prefer autonomy, and the label of autistic
person? If so, then guiding them toward support or affinity groups
may be more helpful from a social perspective, leaving the physician
to manage any of the neurologic or other medical comorbidities.
On the other hand, the individual who adopts the medical model
may need more direction from the physician in terms of accurate
diagnosis and direction into a treatment plan.
With most conditions a physician manages there is not the option
of moving primarily down