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Case reports consistent with autism exist from the 1890s, but Kanner first
defined the syndrome in 1943, as did Asperger a year later.
The prevailing public face of autism comes from the movie Rain Man in which
actor Dustin Hoffman played an adult with autism with not only the behavioral
rigidity, peculiar language, and social abnormality characteristic of the
syndrome but also the savant abilities present in a quarter of individuals with
autism who also have an intelligence quotient (IQ) of at least 35. Autistic
spectrum disorders include autistic disorder, Asperger disorder, PDD not
otherwise specified (PDD-NOS), Rett disorder, and childhood disintegrative
disorder.
In the US: Current estimates are that slightly more than 0.1% of the
general population has classic autism by DSM-IV criteria. When the full
autism spectrum is viewed, the prevalence is higher, with 0.3-0.7%
having the disorder: Asperger disorder is estimated to occur in 0.2-
0.5% of school-aged children, Rett disorder occurs in 5-15 girls per
100,000, and childhood disintegrative disorder occurs with a frequency
of 1-4 cases in 100,000. Prevalence rates of autistic disorder in more
recent studies have been noted to be as much as 40 times higher than
past studies, but this does not necessarily mean that the true
prevalence of the disorder is increasing. This is because more recent
studies are performed in an environment of higher awareness of the
disorder and use more inclusive diagnostic criteria. Remember that as
recent as the 1970s, autistic children were more commonly labeled as
psychotic, thus making comparisons with this era of data highly
suspect.
Studies have shown 3 consistent factors that relate to improved outcome: (1)
higher IQ, (2) presence of speech, and (3) overall severity of disorder.
Mentally retarded autistic individuals who have not gained useful verbal
communication by age 5 years are unlikely to live independently as adults.
Intensive early preschool intervention of 25 or more hours per week with
either applied behavior analysis (ABA) or other therapies focused on
improving functioning (language and social interactions) have been shown by
a few well controlled and many more retrospective studies to improve
outcomes.
Sex:
Rett disorder was previously believed to never occur in males, but case
reports and improved genetic studies have now shown this is possible.
Age: In most cases, these disorders can be detected and distinguished from
other forms of developmental delay before age 3 years. Parent interviews and
videotapes have demonstrated manifestations as early as age 12 months.
Parental concern develops at the mean child age of 19 months, and they first
seek professional advice at a mean child age of 24 months.
Causes:
Most studies indicate that relatives of individuals who are autistic have
an increased rate of social deficits that are qualitatively similar to those
found in autism. Two studies show that the pattern and the severity of
autism in one family member or between monozygotic twins is of little
or no predictive value in determining the severity or pattern of illness in
the other affected family member. This indicates that even when the
genetic liability is identical, the variations in clinical manifestation are
wide.
Fragile X
Phenylketonuria
Other mental retardation
Schizotypal personality disorder
Schizoid personality disorder
Selective mutism
Expressive language disorder
Mixed receptive-expressive language disorder
Stereotypic movement disorder
Congenital deafness
Congenital blindness
Attachment disturbance/psychosocial deprivation
Epilepsy
Landau-Kleffner syndrome
Obsessive compulsive disorder
Tuberous sclerosis
Tourette disorder
Lab Studies:
Imaging Studies:
Other Tests:
EEG is useful in the presence of symptoms consistent with seizures
because of the high prevalence of seizure disorder in individuals with
autism. Importantly, Landau-Kleffner syndrome (a rare acquired
epileptic aphasia) may make someone appear autistic, but treatment is
uniquely centered on seizure control.
Behavioral interventions
Consultations:
Medications do not treat the disorder itself, although core symptoms in some
individuals may be affected by medications. Most research to date has been
conducted on children, contrary to the usual methodology in medicine. In
general, medications are used to target symptoms, symptom complexes, or
comorbid disorders, such as ADD, obsessive-compulsive disorder,
depression, dysthymia, and tic disorders. Use of medications has become
more common, with the prevalence of autistic children taking medications
(psychotropics, antiseizure medications, megavitamins) rising from 42% in
1995 to 65% in 2003 (Coleman, 2005). Less evidence of efficacy exists in the
other PDDs, so treatment decisions in those cases are often based on the
evidence that exists in autism. As a general rule, autistic children seem to be
more sensitive to psychoactive medications, so the adage of start low and go
slow with every drug trial is particularly applicable to this population.
With regard to opioid antagonists, at one point, it was felt that increased
opiate activity might cause the social and behavioral abnormalities in autism.
Some evidence of abnormalities in this system has been found, but control of
symptoms shows no effect on core symptoms of autism. Studies have shown
a decrease in hyperactivity. No effect on self-injurious behavior has been
shown. One study of Rett disorder showed a more rapid deterioration in the
illness of those receiving naltrexone. Much hope was recently placed on the
use of secretin injections; however, careful evaluation of treatment with this
hormone in autism failed to find significant treatment benefits. Some small-
scale studies showed positive responses to use of stimulants in autism;
however, the use of stimulants is uncommon in this condition. This is because
side effects are particularly frequent, with worsened irritability, aggression, and
insomnia. Stimulant use is best reserved for higher functioning patients with
comorbid symptomsconsistent with ADHD.
Transfer:
Deterrence/Prevention:
Complications:
Prognosis:
Patient Education:
Medical/Legal Pitfalls:
All children aged 3-21 years who are diagnosed with autism or PDD
must by law receive an appropriate education within the public
educational system. Services for children aged younger than 3 years
must be provided, but they may be provided by an agency with
individualized education programs and individualized family service
plans, generally through early intervention programs.