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Autism, a brain
disorder that affects 1 to 2 in 1,000 Americans, too often
results in a lifetime of impaired thinking, feeling and
social functioning - our most uniquely human attributes.
Autism typically affects a person's ability to communicate,
form relationships with others, and respond appropriately
to the world around them.
Some people
with autism are relatively high-functioning, with speech
and intelligence intact, but others are mentally retarded,
mute, or have serious language delays. For some, autism
makes them seem closed off and shut down; others appear
locked into repetitive behaviors and rigid patterns of
thinking. An infant  with autism may
avoid eye contact, seem deaf, and abruptly stop developing
language. The child may act as if unaware of the coming
and going of others, or physically attack and injure others
without provocation. Affected infants often remain fixated
on a single item or activity, rock or flap their hands,
sniff or lick toys, seem impervious to burns and bruises,
and may even mutilate themselves.
The National
Institute of Mental Health - in collaboration with the
National Institute of Child Health and Human Development,
the National Institute of Neurological Disorders and Stroke,
and the National Institute of Deafness and other Communication
Disorders-is searching for answers about the causes, diagnosis,
prevention, and treatment of this devastating disorder.
Research has made it possible to identify earlier those
children who show signs of developing autism and thus
initiate early intervention. Both psychosocial and pharmacological
interventions can improve the behavioral and cognitive
functioning of individuals with autism. Studies are evaluating
medications such as risperidone and valproate, looking
at mechanisms of action, safety, efficacy, and effects
on cognition, behavior, and development.
Improved early
diagnosis and differentiation of various forms of autism
is a goal of brain imaging studies that are building a
database on normal brain development in children. Scans
of the normal structural and functional maturation of
the brain will be compared with those from individuals
with autism, speeding development of targeted treatments
and evaluations of their effects. Yet, even the most advanced
scanners cannot substitute for post-mortem brain tissue.
Brain banks, such as the Harvard Brain Tissue Resource
Center, are working with families touched by autism to
arrange for tissue donation when affected members die.
Researchers
are comparing the impairments seen in individuals with
autism to impairments found in those with other disorders
that affect the "executive" functions of the brain, such
as schizophrenia, attention deficit disorder and Tourette's
syndrome. In addition to cognitive impairments, individuals
with autism often suffer from multiple psychopathologies,
including impulse-control disorders, psychoses, obsessive-compulsive
disorder, mood and anxiety disorders, and mental retardation.
Evidence suggests
that unaffected family members may share with their ill
relatives genes that predispose for milder behavioral
characteristics that are qualitatively similar to those
of autism. Some relatives of people with autism may exhibit
subtle cognitive problems. Family members may also share
telltale chemical signatures in the cells of brain circuits
that may be implicated in the disorder. Researchers are
studying such families to characterize these behavioral
and biological traits, in hopes of tracing the variations
in the genetic blueprint that contribute to illness.
Once autism-linked
genes are identified, scientists will bring to bear sophisticated
tools to find out what turns them on, what brain components
they code for, and how they affect behavior. The prospect
of acquiring such molecular knowledge holds great hope
for the engineering of new therapies.
Treatment
Both psychosocial
and pharmacological interventions can improve the behavioral
and cognitive functioning of individuals with autism.
A network of five NIMH-supported research centers that
combine expertise in psychopharmacology and psychiatry
are evaluating drug treatments for autism, such as risperidone
and valproate. Studies are examining dose range and regimen
of medications, and their mechanisms of action, safety,
efficacy, and effects on cognition, behavior, and development.
Among studies of psychosocial treatments in autism, two
NIMH-funded research teams are evaluating parent training
interventions that are tailored to the particular characteristics
of the child and family.
NIH Publication
No. 99-4590
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