Autism Spectrum Disorder (ASD)
Related NDBP Services, URMC Collaborations, and Resources
What is autism spectrum disorder?
Autism spectrum disorder is a neurological and developmental disorder that usually
appears during the first three years of life. A child with autism appears to live
in his or her own world, showing little interest in others, and a lack of social awareness.
The focus of an autistic child is a consistent routine and includes an interest in
repeating odd and peculiar behaviors. Autistic children often have problems in communication,
avoid eye contact, and show limited attachment to others.
Autism can prevent a child from forming relationships with others, in part, because
of an inability to interpret facial expressions or emotions. A child with autism may
resist cuddling, play alone, be resistant to change, and have delayed speech development.
People with autism tend to exhibit repeated body movements, such as flapping hands
or rocking, and have unusual attachments to objects. However, many people with autism
excel consistently on certain mental tasks, such as counting, measuring, art, music,
What causes autism?
Scientists do not know the cause of autism. Research suggests that autism is a genetic
condition. It is believed that several genes are involved in the development of autism.
Research studies in autism have found a variety of abnormalities in the brain structure
and chemicals in the brain, but the findings have not been consistent. One theory
is the possibility that autistic disorder is a behavioral syndrome that includes several
distinct conditions. However, parenting behaviors are not the cause or a contributing
factor to the cause or causes of autism.
Who is affected by autism?
About one in 88 children in the U.S. have an autism spectrum disorder, according to
the CDC. Autism is more prevalent in boys than girls, with four to five times as many
boys affected than girls.
What are the symptoms of autism?
The following are the most common symptoms of autism. However, each child may experience
symptoms differently. Symptoms may include:
Does not socially interact well with others, including parents:
Shows a lack of interest in, or rejection of physical contact. Parents describe autistic
infants as "unaffectionate." Autistic infants and children are not comforted by physical
Avoids making eye contact with others, including parents
Fails to develop friends or interact with other children
Does not communicate well with others:
Is delayed or does not develop language
Once language is developed, does not use language to communicate with others
Has echolalia (repeats words or phrases repeatedly, like an echo)
Demonstrates repetitive behaviors:
Is preoccupied, usually with lights, moving objects, or parts of objects
Does not like noise
The symptoms of autism may resemble other conditions or medical problems. Always consult
your child's doctor for a diagnosis.
How is autism diagnosed?
Standard guidelines have been developed to help identify autism in children before
the age of 24 months. In the past, diagnosis of autism was often not made until late
preschool-age or later. The guidelines can help identify children with autism early,
which means earlier, more effective treatment for the disorder.
According to the guidelines, all children before the age of 24 months should routinely
be screened for autism and other developmental delays at their well-child check-ups.
Children that show developmental delays and other behavior disorders should be further
tested for autism.
The American Academy of Pediatrics recommends that all children should be screened
for autism spectrum disorders at 18 months and 24 months, regardless of whether any
signs are apparent or any concerns have surfaced about a child’s developmental progress.
By screening children early for autism, those diagnosed with the disorder can be treated
immediately and aggressively.
What are the guidelines?
The standardized guidelines developed for the diagnosis of autism actually involve
two levels of screening for autism. Level one screening, which should be performed
for all children seeing a doctor for well-child checkups during their first two years
of life, should check for the following developmental deficits:
No babbling, pointing, or gesturing by age 12 months
No single words spoken by age 16 months
No two-word spontaneous (nonecholalic, or not merely repeating the sounds of others)
expressions by age 24 months
Loss of any language or social skills at any age
No eye contact at 3 to 4 months
The second level of screening should be performed if a child is identified in the
first level of screening as developmentally delayed. The second level of screening
is a more in-depth diagnosis and evaluation that can differentiate autism from other
developmental disorders. The second level of screening may include more formal diagnostic
procedures by clinicians skilled in diagnosing autism, including medical history;
neurological evaluation; genetic testing; metabolic testing; electrophysiologic testing,
such as CT scan, MRI, or PET scan; and psychological testing.
Genetic testing involves an evaluation by a medical geneticist, a doctor who has specialized
training and certification in clinical genetics. This is because symptoms of autism
may be caused by several genetic syndromes, including Fragile-X, untreated phenylketonuria
(PKU), neurofibromatosis, tuberous sclerosis, and a variety of chromosome abnormalities.
A geneticist can determine whether the symptoms of autism are caused by a genetic
disorder, or whether the symptoms have no known genetic cause. If a genetic disorder
is diagnosed, other health problems may be involved. The chance for recurrence in
a future pregnancy would depend on the syndrome found. For example, PKU is an autosomal
recessive disorder with a reoccurrence risk of one in four, or 25 percent, chance,
while tuberous sclerosis is an autosomal dominant disorder, with a reoccurrence risk
of 50 percent.
In cases where no genetic cause for the autism is identified, the couple has a slightly
increased chance for having another child with autism. The reason for this increase
over the general population is thought to be because autism may result from several
genes inherited from both parents acting in combination, in addition to unknown environmental
factors. There is no action or inaction known that parents could have done, or did
not do, to cause autism to occur in a child.
Always consult your child's doctor for a diagnosis and for more information.
Treatment for autism
Specialized behavioral and educational programs are designed to treat autism. Behavioral
therapy is used to teach social skills, motor skills, and cognitive (thinking) skills.
Behavior modification is also useful in reducing or eliminating maladaptive behaviors.
Individualized treatment planning for behavioral therapy is important as autistic
children vary greatly in their behavioral needs. Intensive behavior therapy during
early childhood and home-based approaches training and involving parents are considered
to produce the best results.
Special education programs that are highly structured focus on developing social skills,
speech, language, self-care, and job skills. Medication is also helpful in treating
some symptoms of autism in some children. Mental health professionals provide parent
counseling, social skills training, and individual therapy. They also help families
identify and participate in treatment programs based on an individual child's treatment
needs. Specific treatment will be determined by your child's doctor based on:
Your child's age, overall health, and medical history
Extent of the disorder
Your child's symptoms
Your child's tolerance for specific medications or therapies
Expectations for the course of the disorder
Your opinion or preference
Prevention of autism
Preventive measures to reduce the incidence or severity of autistic disorders are
not known at this time.
Online Medical Reviewers:
- newMentor board-certified, academically affiliated clinician
- Roux, Susan L, ARNP
Related NDBP Services
NDBP provides many services to support families of children newly diagnosed with ASD and ongoing specialty care. This includes state of the art diagnostic evaluation for children suspected of having an ASD. We also provide resources and information and referral services.
University of Rochester is one of 17 sites of the Autism Treatment Network and has one of the largest research programs on ASD in the United States! Many families of children with ASD choose to participate in research which offers children the opportunity to participate in new treatments.
Child Neurology - Assures children have the evaluation and treatment they need for seizures or other neurologic issues.
Pediatric Gastroenterology - Evaluates and offers suggestions for treatment for problems with slow bowel motility, constipation, or gastroesophageal reflux (GER).
Pediatric Sleep Medicine Service - Evaluates and treats sleep problems.
Physical Medicine and Rehabilitation - Provides outpatient evaluation and intense and targeted therapy programs for children and teens. Pediatric physical therapists provide evaluation and treatment of independent daily living skills and equipment needs. Pediatric occupational therapists provide evaluation and treatment of fine motor skills, handwriting, daily living skills, sensory processing, and adaptive equipment needs.
Speech Pathology Department - Meets the needs of children who have difficulties with speech, communication, oral-motor control, and feeding/swallowing.
You can find resources for ASD in our Resource Directory!