Provided by the National Institute of Mental Health
Not until the middle of the twentieth century was
there a name for a disorder that now appears to affect an estimated one of every
five hundred children, a disorder that causes disruption in families and
unfulfilled lives for many children. In 1943 Dr. Leo Kanner of the Johns Hopkins
Hospital studied a group of 11 children and introduced the label early infantile
autism into the English language. At the same time a German scientist, Dr. Hans
Asperger, described a milder form of the disorder that became known as Asperger
syndrome. Thus these two disorders were described and are today listed in the
Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR (fourth edition,
text revision)1 as two of the five pervasive developmental disorders (PDD), more
often referred to today as autism spectrum disorders (ASD). All these disorders
are characterized by varying degrees of impairment in communication skills,
social interactions, and restricted, repetitive and stereotyped patterns of
behavior.
The autism spectrum disorders can often be reliably detected by the age of 3
years, and in some cases as early as 18 months.2 Studies suggest that many
children eventually may be accurately identified by the age of 1 year or even
younger. The appearance of any of the warning signs of ASD is reason to have a
child evaluated by a professional specializing in these disorders.
Parents are usually the first to notice unusual behaviors in their child. In
some cases, the baby seemed "different" from birth, unresponsive to people or
focusing intently on one item for long periods of time. The first signs of an
ASD can also appear in children who seem to have been developing normally. When
an engaging, babbling toddler suddenly becomes silent, withdrawn, self-abusive,
or indifferent to social overtures, something is wrong. Research has shown that
parents are usually correct about noticing developmental problems, although they
may not realize the specific nature or degree of the problem.
The pervasive developmental disorders, or autism spectrum disorders, range from
a severe form, called autistic disorder, to a milder form, Asperger syndrome. If
a child has symptoms of either of these disorders, but does not meet the
specific criteria for either, the diagnosis is called pervasive developmental
disorder not otherwise specified (PDD-NOS). Other rare, very severe disorders
that are included in the autism spectrum disorders are Rett syndrome and
childhood disintegrative disorder. This brochure will focus on classic autism,
PDD-NOS, and Asperger syndrome, with brief descriptions of Rett syndrome and
childhood disintegrative disorder on the following page.
Rare Autism Spectrum Disorders
Rett Syndrome
Rett syndrome is relatively rare, affecting almost exclusively females, one out
of 10,000 to 15,000. After a period of normal development, sometime between 6
and 18 months, autism-like symptoms begin to appear. The little girl's mental
and social development regresses—she no longer responds to her parents and pulls
away from any social contact. If she has been talking, she stops; she cannot
control her feet; she wrings her hands. Some of the problems associated with
Rett syndrome can be treated. Physical, occupational, and speech therapy can
help with problems of coordination, movement, and speech.
Scientists sponsored by the National Institute of Child Health and Human
Development have discovered that a mutation in the sequence of a single gene can
cause Rett syndrome. This discovery may help doctors slow or stop the progress
of the syndrome. It may also lead to methods of screening for Rett syndrome,
thus enabling doctors to start treating these children much sooner, and
improving the quality of life these children experience.*
Childhood Disintegrative Disorder
Very few children who have an autism spectrum disorder (ASD) diagnosis meet the
criteria for childhood disintegrative disorder (CDD). An estimate based on four
surveys of ASD found fewer than two children per 100,000 with ASD could be
classified as having CDD. This suggests that CDD is a very rare form of ASD. It
has a strong male preponderance.** Symptoms may appear by age 2, but the average
age of onset is between 3 and 4 years. Until this time, the child has
age-appropriate skills in communication and social relationships. The long
period of normal development before regression helps differentiate CDD from Rett
syndrome.
The loss of such skills as vocabulary are more dramatic in CDD than they are in
classical autism. The diagnosis requires extensive and pronounced losses
involving motor, language, and social skills.*** CDD is also accompanied by loss
of bowel and bladder control and oftentimes seizures and a very low IQ.
*Rett syndrome. NIH Publication No. 01-4960. Rockville, MD: National Institute
of Child Health and Human Development, 2001. Available at http://www.nichd.nih.gov/publications/pubskey.cfm?from=autism
**Frombonne E. Prevalence of childhood disintegrative disorder. Autism, 2002;
6(2): 149-157.
***Volkmar RM and Rutter M. Childhood disintegrative disorder: Results of the
DSM-IV autism field trial. Journal of the American Academy of Child and
Adolescent Psychiatry, 1995; 34: 1092-1095.
What Are the Autism Spectrum Disorders?
The autism spectrum disorders are more common in the pediatric population than
are some better known disorders such as diabetes, spinal bifida, or Down
syndrome.2 Prevalence studies have been done in several states and also in the
United Kingdom, Europe, and Asia. Prevalence estimates range from 2 to 6 per
1,000 children. This wide range of prevalence points to a need for earlier and
more accurate screening for the symptoms of ASD. The earlier the disorder is
diagnosed, the sooner the child can be helped through treatment interventions.
Pediatricians, family physicians, daycare providers, teachers, and parents may
initially dismiss signs of ASD, optimistically thinking the child is just a
little slow and will "catch up." Although early intervention has a dramatic
impact on reducing symptoms and increasing a child's ability to grow and learn
new skills, it is estimated that only 50 percent of children are diagnosed
before kindergarten.
All children with ASD demonstrate deficits in 1) social interaction, 2) verbal
and nonverbal communication, and 3) repetitive behaviors or interests. In
addition, they will often have unusual responses to sensory experiences, such as
certain sounds or the way objects look. Each of these symptoms runs the gamut
from mild to severe. They will present in each individual child differently. For
instance, a child may have little trouble learning to read but exhibit extremely
poor social interaction. Each child will display communication, social, and
behavioral patterns that are individual but fit into the overall diagnosis of
ASD.
Children with ASD do not follow the typical patterns of child development. In
some children, hints of future problems may be apparent from birth. In most
cases, the problems in communication and social skills become more noticeable as
the child lags further behind other children the same age. Some other children
start off well enough. Oftentimes between 12 and 36 months old, the differences
in the way they react to people and other unusual behaviors become apparent.
Some parents report the change as being sudden, and that their children start to
reject people, act strangely, and lose language and social skills they had
previously acquired. In other cases, there is a plateau, or leveling, of
progress so that the difference between the child with autism and other children
the same age becomes more noticeable.
ASD is defined by a certain set of behaviors that can range from the very mild
to the severe. The following possible indicators of ASD were identified on the
Public Health Training Network Webcast, Autism Among Us.3
Possible Indicators of Autism Spectrum Disorders
Does not babble, point, or make meaningful gestures by 1 year of age
Does not speak one word by 16 months
Does not combine two words by 2 years
Does not respond to name
Loses language or social skills
Some Other Indicators
Poor eye contact
Doesn't seem to know how to play with toys
Excessively lines up toys or other objects
Is attached to one particular toy or object
Doesn't smile
At times seems to be hearing impaired
Social Symptoms
From the start, typically developing infants are social beings. Early in life,
they gaze at people, turn toward voices, grasp a finger, and even smile.
In contrast, most children with ASD seem to have tremendous difficulty learning
to engage in the give-and-take of everyday human interaction. Even in the first
few months of life, many do not interact and they avoid eye contact. They seem
indifferent to other people, and often seem to prefer being alone. They may
resist attention or passively accept hugs and cuddling. Later, they seldom seek
comfort or respond to parents' displays of anger or affection in a typical way.
Research has suggested that although children with ASD are attached to their
parents, their expression of this attachment is unusual and difficult to "read."
To parents, it may seem as if their child is not attached at all. Parents who
looked forward to the joys of cuddling, teaching, and playing with their child
may feel crushed by this lack of the expected and typical attachment behavior.
Children with ASD also are slower in learning to interpret what others are
thinking and feeling. Subtle social cues—whether a smile, a wink, or a
grimace—may have little meaning. To a child who misses these cues, "Come here"
always means the same thing, whether the speaker is smiling and extending her
arms for a hug or frowning and planting her fists on her hips. Without the
ability to interpret gestures and facial expressions, the social world may seem
bewildering. To compound the problem, people with ASD have difficulty seeing
things from another person's perspective. Most 5-year-olds understand that other
people have different information, feelings, and goals than they have. A person
with ASD may lack such understanding. This inability leaves them unable to
predict or understand other people's actions.
Although not universal, it is common for people with ASD also to have difficulty
regulating their emotions. This can take the form of "immature" behavior such as
crying in class or verbal outbursts that seem inappropriate to those around
them. The individual with ASD might also be disruptive and physically aggressive
at times, making social relationships still more difficult. They have a tendency
to "lose control," particularly when they're in a strange or overwhelming
environment, or when angry and frustrated. They may at times break things,
attack others, or hurt themselves. In their frustration, some bang their heads,
pull their hair, or bite their arms.
Communication Difficulties
By age 3, most children have passed predictable milestones on the path to
learning language; one of the earliest is babbling. By the first birthday, a
typical toddler says words, turns when he hears his name, points when he wants a
toy, and when offered something distasteful, makes it clear that the answer is
"no."
Some children diagnosed with ASD remain mute throughout their lives. Some
infants who later show signs of ASD coo and babble during the first few months
of life, but they soon stop. Others may be delayed, developing language as late
as age 5 to 9. Some children may learn to use communication systems such as
pictures or sign language.
Those who do speak often use language in unusual ways. They seem unable to
combine words into meaningful sentences. Some speak only single words, while
others repeat the same phrase over and over. Some ASD children parrot what they
hear, a condition called echolalia. Although many children with no ASD go
through a stage where they repeat what they hear, it normally passes by the time
they are 3.
Some children only mildly affected may exhibit slight delays in language, or
even seem to have precocious language and unusually large vocabularies, but have
great difficulty in sustaining a conversation. The "give and take" of normal
conversation is hard for them, although they often carry on a monologue on a
favorite subject, giving no one else an opportunity to comment. Another
difficulty is often the inability to understand body language, tone of voice, or
"phrases of speech." They might interpret a sarcastic expression such as "Oh,
that's just great" as meaning it really IS great.
While it can be hard to understand what ASD children are saying, their body
language is also difficult to understand. Facial expressions, movements, and
gestures rarely match what they are saying. Also, their tone of voice fails to
reflect their feelings. A high-pitched, sing-song, or flat, robot-like voice is
common. Some children with relatively good language skills speak like little
adults, failing to pick up on the "kid-speak" that is common in their peers.
Without meaningful gestures or the language to ask for things, people with ASD
are at a loss to let others know what they need. As a result, they may simply
scream or grab what they want. Until they are taught better ways to express
their needs, ASD children do whatever they can to get through to others. As
people with ASD grow up, they can become increasingly aware of their
difficulties in understanding others and in being understood. As a result they
may become anxious or depressed.
Repetitive Behaviors
Although children with ASD usually appear physically normal and have good muscle
control, odd repetitive motions may set them off from other children. These
behaviors might be extreme and highly apparent or more subtle. Some children and
older individuals spend a lot of time repeatedly flapping their arms or walking
on their toes. Some suddenly freeze in position.
As children, they might spend hours lining up their cars and trains in a certain
way, rather than using them for pretend play. If someone accidentally moves one
of the toys, the child may be tremendously upset. ASD children need, and demand,
absolute consistency in their environment. A slight change in any routine—in
mealtimes, dressing, taking a bath, going to school at a certain time and by the
same route—can be extremely disturbing. Perhaps order and sameness lend some
stability in a world of confusion.
Repetitive behavior sometimes takes the form of a persistent, intense
preoccupation. For example, the child might be obsessed with learning all about
vacuum cleaners, train schedules, or lighthouses. Often there is great interest
in numbers, symbols, or science topics.
Problems That May Accompany ASD
Sensory problems. When children's perceptions are accurate, they can learn from
what they see, feel, or hear. On the other hand, if sensory information is
faulty, the child's experiences of the world can be confusing. Many ASD children
are highly attuned or even painfully sensitive to certain sounds, textures,
tastes, and smells. Some children find the feel of clothes touching their skin
almost unbearable. Some sounds—a vacuum cleaner, a ringing telephone, a sudden
storm, even the sound of waves lapping the shoreline—will cause these children
to cover their ears and scream.
In ASD, the brain seems unable to balance the senses appropriately. Some ASD
children are oblivious to extreme cold or pain. An ASD child may fall and break
an arm, yet never cry. Another may bash his head against a wall and not wince,
but a light touch may make the child scream with alarm.
Mental retardation. Many children with ASD have some degree of mental
impairment. When tested, some areas of ability may be normal, while others may
be especially weak. For example, a child with ASD may do well on the parts of
the test that measure visual skills but earn low scores on the language
subtests.
Seizures. One in four children with ASD develops seizures, often starting either
in early childhood or adolescence.4 Seizures, caused by abnormal electrical
activity in the brain, can produce a temporary loss of consciousness (a
"blackout"), a body convulsion, unusual movements, or staring spells. Sometimes
a contributing factor is a lack of sleep or a high fever. An EEG
(electroencephalogram—recording of the electric currents developed in the brain
by means of electrodes applied to the scalp) can help confirm the seizure's
presence.
In most cases, seizures can be controlled by a number of medicines called
"anticonvulsants." The dosage of the medication is adjusted carefully so that
the least possible amount of medication will be used to be effective.
Fragile X syndrome. This disorder is the most common inherited form of mental
retardation. It was so named because one part of the X chromosome has a
defective piece that appears pinched and fragile when under a microscope.
Fragile X syndrome affects about two to five percent of people with ASD. It is
important to have a child with ASD checked for Fragile X, especially if the
parents are considering having another child. For an unknown reason, if a child
with ASD also has Fragile X, there is a one-in-two chance that boys born to the
same parents will have the syndrome.5 Other members of the family who may be
contemplating having a child may also wish to be checked for the syndrome.
Tuberous Sclerosis. Tuberous sclerosis is a rare genetic disorder that causes
benign tumors to grow in the brain as well as in other vital organs. It has a
consistently strong association with ASD. One to 4 percent of people with ASD
also have tuberous sclerosis.6
The Diagnosis of Autism Spectrum Disorders
Although there are many concerns about labeling a young child with an ASD, the
earlier the diagnosis of ASD is made, the earlier needed interventions can
begin. Evidence over the last 15 years indicates that intensive early
intervention in optimal educational settings for at least 2 years during the
preschool years results in improved outcomes in most young children with ASD.2
In evaluating a child, clinicians rely on behavioral characteristics to make a
diagnosis. Some of the characteristic behaviors of ASD may be apparent in the
first few months of a child's life, or they may appear at any time during the
early years. For the diagnosis, problems in at least one of the areas of
communication, socialization, or restricted behavior must be present before the
age of 3. The diagnosis requires a two-stage process. The first stage involves
developmental screening during "well child" check-ups; the second stage entails
a comprehensive evaluation by a multidisciplinary team.7
Screening
A "well child" check-up should include a developmental screening test. If your
child's pediatrician does not routinely check your child with such a test, ask
that it be done. Your own observations and concerns about your child's
development will be essential in helping to screen your child.7 Reviewing family
videotapes, photos, and baby albums can help parents remember when each behavior
was first noticed and when the child reached certain developmental milestones.
Several screening instruments have been developed to quickly gather information
about a child's social and communicative development within medical settings.
Among them are the Checklist of Autism in Toddlers (CHAT),8 the modified
Checklist for Autism in Toddlers (M-CHAT),9 the Screening Tool for Autism in
Two-Year-Olds (STAT),10 and the Social Communication Questionnaire (SCQ)11 (for
children 4 years of age and older).
Some screening instruments rely solely on parent responses to a questionnaire,
and some rely on a combination of parent report and observation. Key items on
these instruments that appear to differentiate children with autism from other
groups before the age of 2 include pointing and pretend play. Screening
instruments do not provide individual diagnosis but serve to assess the need for
referral for possible diagnosis of ASD. These screening methods may not identify
children with mild ASD, such as those with high-functioning autism or Asperger
syndrome.
During the last few years, screening instruments have been devised to screen for
Asperger syndrome and higher functioning autism. The Autism Spectrum Screening
Questionnaire (ASSQ),12 the Australian Scale for Asperger's Syndrome,13 and the
most recent, the Childhood Asperger Syndrome Test (CAST),14 are some of the
instruments that are reliable for identification of school-age children with
Asperger syndrome or higher functioning autism. These tools concentrate on
social and behavioral impairments in children without significant language
delay.
If, following the screening process or during a routine "well child" check-up,
your child's doctor sees any of the possible indicators of ASD, further
evaluation is indicated.
Comprehensive Diagnostic Evaluation
The second stage of diagnosis must be comprehensive in order to accurately rule
in or rule out an ASD or other developmental problem. This evaluation may be
done by a multidisciplinary team that includes a psychologist, a neurologist, a
psychiatrist, a speech therapist, or other professionals who diagnose children
with ASD.
Because ASD's are complex disorders and may involve other neurological or
genetic problems, a comprehensive evaluation should entail neurologic and
genetic assessment, along with in-depth cognitive and language testing.7 In
addition, measures developed specifically for diagnosing autism are often used.
These include the Autism Diagnosis Interview-Revised (ADI-R)15 and the Autism
Diagnostic Observation Schedule (ADOS-G).16 The ADI-R is a structured interview
that contains over 100 items and is conducted with a caregiver. It consists of
four main factors—the child's communication, social interaction, repetitive
behaviors, and age-of-onset symptoms. The ADOS-G is an observational measure
used to "press" for socio-communicative behaviors that are often delayed,
abnormal, or absent in children with ASD.
Still another instrument often used by professionals is the Childhood Autism
Rating Scale (CARS).17 It aids in evaluating the child's body movements,
adaptation to change, listening response, verbal communication, and relationship
to people. It is suitable for use with children over 2 years of age. The
examiner observes the child and also obtains relevant information from the
parents. The child's behavior is rated on a scale based on deviation from the
typical behavior of children of the same age.
Two other tests that should be used to assess any child with a developmental
delay are a formal audiologic hearing evaluation and a lead screening. Although
some hearing loss can co-occur with ASD, some children with ASD may be
incorrectly thought to have such a loss. In addition, if the child has suffered
from an ear infection, transient hearing loss can occur. Lead screening is
essential for children who remain for a long period of time in the oral-motor
stage in which they put any and everything into their mouths. Children with an
autistic disorder usually have elevated blood lead levels.7
Customarily, an expert diagnostic team has the responsibility of thoroughly
evaluating the child, assessing the child's unique strengths and weaknesses, and
determining a formal diagnosis. The team will then meet with the parents to
explain the results of the evaluation.
Although parents may have been aware that something was not "quite right" with
their child, when the diagnosis is given, it is a devastating blow. At such a
time, it is hard to stay focused on asking questions. But while members of the
evaluation team are together is the best opportunity the parents will have to
ask questions and get recommendations on what further steps they should take for
their child. Learning as much as possible at this meeting is very important, but
it is helpful to leave this meeting with the name or names of professionals who
can be contacted if the parents have further questions.
Available Aids
When your child has been evaluated and diagnosed with an autism spectrum
disorder, you may feel inadequate to help your child develop to the fullest
extent of his or her ability. As you begin to look at treatment options and at
the types of aid available for a child with a disability, you will find out that
there is help for you. It is going to be difficult to learn and remember
everything you need to know about the resources that will be most helpful. Write
down everything. If you keep a notebook, you will have a foolproof method of
recalling information. Keep a record of the doctors' reports and the evaluation
your child has been given so that his or her eligibility for special programs
will be documented. Learn everything you can about special programs for your
child; the more you know, the more effectively you can advocate.
For every child eligible for special programs, each state guarantees special
education and related services. The Individuals with Disabilities Education Act
(IDEA) is a Federally mandated program that assures a free and appropriate
public education for children with diagnosed learning deficits. Usually children
are placed in public schools and the school district pays for all necessary
services. These will include, as needed, services by a speech therapist,
occupational therapist, school psychologist, social worker, school nurse, or
aide.
By law, the public schools must prepare and carry out a set of instruction
goals, or specific skills, for every child in a special education program. The
list of skills is known as the child's Individualized Education Program (IEP).
The IEP is an agreement between the school and the family on the child's goals.
When your child's IEP is developed, you will be asked to attend the meeting.
There will be several people at this meeting, including a special education
teacher, a representative of the public schools who is knowledgeable about the
program, other individuals invited by the school or by you (you may want to
bring a relative, a child care provider, or a supportive close friend who knows
your child well). Parents play an important part in creating the program, as
they know their child and his or her needs best. Once your child's IEP is
developed, a meeting is scheduled once a year to review your child's progress
and to make any alterations to reflect his or her changing needs.
If your child is under 3 years of age and has special needs, he or she should be
eligible for an early intervention program; this program is available in every
state. Each state decides which agency will be the lead agency in the early
intervention program. The early intervention services are provided by workers
qualified to care for toddlers with disabilities and are usually in the child's
home or a place familiar to the child. The services provided are written into an
Individualized Family Service Plan (IFSP) that is reviewed at least once every 6
months. The plan will describe services that will be provided to the child, but
will also describe services for parents to help them in daily activities with
their child and for siblings to help them adjust to having a brother or sister
with ASD.
There is a list of resources at the back of the brochure that will be helpful to
you as you look for programs for your child.
Treatment Options
There is no single best treatment package for all children with ASD. One point
that most professionals agree on is that early intervention is important;
another is that most individuals with ASD respond well to highly structured,
specialized programs.
Before you make decisions on your child's treatment, you will want to gather
information about the various options available. Learn as much as you can, look
at all the options, and make your decision on your child's treatment based on
your child's needs. You may want to visit public schools in your area to see the
type of program they offer to special needs children.
Guidelines used by the Autism Society of America include the following questions
parents can ask about potential treatments:
Will the treatment result in harm to my child?
How will failure of the treatment affect my child and family?
Has the treatment been validated scientifically?
Are there assessment procedures specified?
How will the treatment be integrated into my child's current program? Do not
become so infatuated with a given treatment that functional curriculum,
vocational life, and social skills are ignored.
The National Institute of Mental Health suggests a list of questions parents can
ask when planning for their child:
How successful has the program been for other children?
How many children have gone on to placement in a regular school and how have
they performed?
Do staff members have training and experience in working with children and
adolescents with autism?
How are activities planned and organized?
Are there predictable daily schedules and routines?
How much individual attention will my child receive?
How is progress measured? Will my child's behavior be closely observed and
recorded?
Will my child be given tasks and rewards that are personally motivating?
Is the environment designed to minimize distractions?
Will the program prepare me to continue the therapy at home?
What is the cost, time commitment, and location of the program?
Among the many methods available for treatment and education of people with
autism, applied behavior analysis (ABA) has become widely accepted as an
effective treatment. Mental Health: A Report of the Surgeon General states,
"Thirty years of research demonstrated the efficacy of applied behavioral
methods in reducing inappropriate behavior and in increasing communication,
learning, and appropriate social behavior."18 The basic research done by Ivar
Lovaas and his colleagues at the University of California, Los Angeles, calling
for an intensive, one-on-one child-teacher interaction for 40 hours a week, laid
a foundation for other educators and researchers in the search for further
effective early interventions to help those with ASD attain their potential. The
goal of behavioral management is to reinforce desirable behaviors and reduce
undesirable ones.19, 20
An effective treatment program will build on the child's interests, offer a
predictable schedule, teach tasks as a series of simple steps, actively engage
the child's attention in highly structured activities, and provide regular
reinforcement of behavior. Parental involvement has emerged as a major factor in
treatment success. Parents work with teachers and therapists to identify the
behaviors to be changed and the skills to be taught. Recognizing that parents
are the child's earliest teachers, more programs are beginning to train parents
to continue the therapy at home.
As soon as a child's disability has been identified, instruction should begin.
Effective programs will teach early communication and social interaction skills.
In children younger than 3 years, appropriate interventions usually take place
in the home or a child care center. These interventions target specific deficits
in learning, language, imitation, attention, motivation, compliance, and
initiative of interaction. Included are behavioral methods, communication,
occupational and physical therapy along with social play interventions. Often
the day will begin with a physical activity to help develop coordination and
body awareness; children string beads, piece puzzles together, paint, and
participate in other motor skills activities. At snack time the teacher
encourages social interaction and models how to use language to ask for more
juice. The children learn by doing. Working with the children are students,
behavioral therapists, and parents who have received extensive training. In
teaching the children, positive reinforcement is used.21
Children older than 3 years usually have school-based, individualized, special
education. The child may be in a segregated class with other autistic children
or in an integrated class with children without disabilities for at least part
of the day. Different localities may use differing methods but all should
provide a structure that will help the children learn social skills and
functional communication. In these programs, teachers often involve the parents,
giving useful advice in how to help their child use the skills or behaviors
learned at school when they are at home.22
In elementary school, the child should receive help in any skill area that is
delayed and, at the same time, be encouraged to grow in his or her areas of
strength. Ideally, the curriculum should be adapted to the individual child's
needs. Many schools today have an inclusion program in which the child is in a
regular classroom for most of the day, with special instruction for a part of
the day. This instruction should include such skills as learning how to act in
social situations and in making friends. Although higher-functioning children
may be able to handle academic work, they too need help to organize tasks and
avoid distractions.
During middle and high school years, instruction will begin to address such
practical matters as work, community living, and recreational activities. This
should include work experience, using public transportation, and learning skills
that will be important in community living.23
All through your child's school years, you will want to be an active participant
in his or her education program. Collaboration between parents and educators is
essential in evaluating your child's progress.
The Adolescent Years
Adolescence is a time of stress and confusion; and it is no less so for
teenagers with autism. Like all children, they need help in dealing with their
budding sexuality. While some behaviors improve during the teenage years, some
get worse. Increased autistic or aggressive behavior may be one way some teens
express their newfound tension and confusion.
The teenage years are also a time when children become more socially sensitive.
At the age that most teenagers are concerned with acne, popularity, grades, and
dates, teens with autism may become painfully aware that they are different from
their peers. They may notice that they lack friends. And unlike their
schoolmates, they aren't dating or planning for a career. For some, the sadness
that comes with such realization motivates them to learn new behaviors and
acquire better social skills.
Dietary and Other Interventions
In an effort to do everything possible to help their children, many parents
continually seek new treatments. Some treatments are developed by reputable
therapists or by parents of a child with ASD. Although an unproven treatment may
help one child, it may not prove beneficial to another. To be accepted as a
proven treatment, the treatment should undergo clinical trials, preferably
randomized, double-blind trials, that would allow for a comparison between
treatment and no treatment. Following are some of the interventions that have
been reported to have been helpful to some children but whose efficacy or safety
has not been proven.
Dietary interventions are based on the idea that 1) food allergies cause
symptoms of autism, and 2) an insufficiency of a specific vitamin or mineral may
cause some autistic symptoms. If parents decide to try for a given period of
time a special diet, they should be sure that the child's nutritional status is
measured carefully.
A diet that some parents have found was helpful to their autistic child is a
gluten-free, casein-free diet. Gluten is a casein-like substance that is found
in the seeds of various cereal plants—wheat, oat, rye, and barley. Casein is the
principal protein in milk. Since gluten and milk are found in many of the foods
we eat, following a gluten-free, casein-free diet is difficult.
A supplement that some parents feel is beneficial for an autistic child is
Vitamin B6, taken with magnesium (which makes the vitamin effective). The result
of research studies is mixed; some children respond positively, some negatively,
some not at all or very little.4
In the search for treatment for autism, there has been discussion in the last
few years about the use of secretin, a substance approved by the Food and Drug
Administration (FDA) for a single dose normally given to aid in diagnosis of a
gastrointestinal problem. Anecdotal reports have shown improvement in autism
symptoms, including sleep patterns, eye contact, language skills, and alertness.
Several clinical trials conducted in the last few years have found no
significant improvements in symptoms between patients who received secretin and
those who received a placebo.24
Medications Used in Treatment
Medications are often used to treat behavioral problems, such as aggression,
self-injurious behavior, and severe tantrums, that keep the person with ASD from
functioning more effectively at home or school. The medications used are those
that have been developed to treat similar symptoms in other disorders. Many of
these medications are prescribed "off-label." This means they have not been
officially approved by the FDA for use in children, but the doctor prescribes
the medications if he or she feels they are appropriate for your child. Further
research needs to be done to ensure not only the efficacy but the safety of
psychotropic agents used in the treatment of children and adolescents.
A child with ASD may not respond in the same way to medications as typically
developing children. It is important that parents work with a doctor who has
experience with children with autism. A child should be monitored closely while
taking a medication. The doctor will prescribe the lowest dose possible to be
effective. Ask the doctor about any side effects the medication may have and
keep a record of how your child responds to the medication. It will be helpful
to read the "patient insert" that comes with your child's medication. Some
people keep the patient inserts in a small notebook to be used as a reference.
This is most useful when several medications are prescribed.
Anxiety and depression. The selective serotonin reuptake inhibitors (SSRI's) are
the medications most often prescribed for symptoms of anxiety, depression,
and/or obsessive-compulsive disorder (OCD). Only one of the SSRI's, fluoxetine,
(Prozac®) has been approved by the FDA for both OCD and depression in children
age 7 and older. Three that have been approved for OCD are fluvoxamine (Luvox®),
age 8 and older; sertraline (Zoloft®), age 6 and older; and clomipramine (Anafranil®),
age 10 and older.4 Treatment with these medications can be associated with
decreased frequency of repetitive, ritualistic behavior and improvements in eye
contact and social contacts. The FDA is studying and analyzing data to better
understand how to use the SSRI's safely, effectively, and at the lowest dose
possible.
Behavioral problems. Antipsychotic medications have been used to treat severe
behavioral problems. These medications work by reducing the activity in the
brain of the neurotransmitter dopamine. Among the older, typical antipsychotics,
such as haloperidol (Haldol®), thioridazine, fluphenazine, and chlorpromazine,
haloperidol was found in more than one study to be more effective than a placebo
in treating serious behavioral problems.25 However, haloperidol, while helpful
for reducing symptoms of aggression, can also have adverse side effects, such as
sedation, muscle stiffness, and abnormal movements.
Placebo-controlled studies of the newer "atypical" antipsychotics are being
conducted on children with autism. The first such study, conducted by the NIMH-supported
Research Units on Pediatric Psychopharmacology (RUPP) Autism Network, was on
risperidone (Risperdal®).26 Results of the 8-week study were reported in 2002
and showed that risperidone was effective and well tolerated for the treatment
of severe behavioral problems in children with autism. The most common side
effects were increased appetite, weight gain and sedation. Further long-term
studies are needed to determine any long-term side effects. Other atypical
antipsychotics that have been studied recently with encouraging results are
olanzapine (Zyprexa®) and ziprasidone (Geodon®). Ziprasidone has not been
associated with significant weight gain.
Seizures. Seizures are found in one in four persons with ASD, most often in
those who have low IQ or are mute. They are treated with one or more of the
anticonvulsants. These include such medications as carbamazepine (Tegretol®),
lamotrigine (Lamictal®), topiramate (Topamax®), and valproic acid (Depakote®).
The level of the medication in the blood should be monitored carefully and
adjusted so that the least amount possible is used to be effective. Although
medication usually reduces the number of seizures, it cannot always eliminate
them.
Inattention and hyperactivity. Stimulant medications such as methylphenidate
(Ritalin®), used safely and effectively in persons with attention deficit
hyperactivity disorder, have also been prescribed for children with autism.
These medications may decrease impulsivity and hyperactivity in some children,
especially those higher functioning children.
Several other medications have been used to treat ASD symptoms; among them are
other antidepressants, naltrexone, lithium, and some of the benzodiazepines such
as diazepam (Valium®) and lorazepam (Ativan®). The safety and efficacy of these
medications in children with autism has not been proven. Since people may
respond differently to different medications, your child's unique history and
behavior will help your doctor decide which medication might be most beneficial.
Adults with an Autism Spectrum Disorder
Some adults with ASD, especially those with high-functioning autism or with
Asperger syndrome, are able to work successfully in mainstream jobs.
Nevertheless, communication and social problems often cause difficulties in many
areas of life. They will continue to need encouragement and moral support in
their struggle for an independent life.
Many others with ASD are capable of employment in sheltered workshops under the
supervision of managers trained in working with persons with disabilities. A
nurturing environment at home, at school, and later in job training and at work,
helps persons with ASD continue to learn and to develop throughout their lives.
The public schools' responsibility for providing services ends when the person
with ASD reaches the age of 22. The family is then faced with the challenge of
finding living arrangements and employment to match the particular needs of
their adult child, as well as the programs and facilities that can provide
support services to achieve these goals. Long before your child finishes school,
you will want to search for the best programs and facilities for your young
adult. If you know other parents of ASD adults, ask them about the services
available in your community. If your community has little to offer, serve as an
advocate for your child and work toward the goal of improved employment
services. Research the resources listed in the back of this brochure to learn as
much as possible about the help your child is eligible to receive as an adult.
Living Arrangements for the Adult with an Autism Spectrum Disorder
Independent living. Some adults with ASD are able to live entirely on their own.
Others can live semi-independently in their own home or apartment if they have
assistance with solving major problems, such as personal finances or dealing
with the government agencies that provide services to persons with disabilities.
This assistance can be provided by family, a professional agency, or another
type of provider.
Living at home. Government funds are available for families that choose to have
their adult child with ASD live at home. These programs include Supplemental
Security Income (SSI), Social Security Disability Insurance (SSDI), Medicaid
waivers, and others. Information about these programs is available from the
Social Security Administration (SSA). An appointment with a local SSA office is
a good first step to take in understanding the programs for which the young
adult is eligible.
Foster homes and skill-development homes. Some families open their homes to
provide long-term care to unrelated adults with disabilities. If the home
teaches self-care and housekeeping skills and arranges leisure activities, it is
called a "skill-development" home.
Supervised group living. Persons with disabilities frequently live in group
homes or apartments staffed by professionals who help the individuals with basic
needs. These often include meal preparation, housekeeping, and personal care
needs. Higher functioning persons may be able to live in a home or apartment
where staff only visit a few times a week. These persons generally prepare their
own meals, go to work, and conduct other daily activities on their own.
Institutions. Although the trend in recent decades has been to avoid placing
persons with disabilities into long-term-care institutions, this alternative is
still available for persons with ASD who need intensive, constant supervision.
Unlike many of the institutions years ago, today's facilities view residents as
individuals with human needs and offer opportunities for recreation and simple
but meaningful work.
Research into Causes and Treatment of Autism Spectrum Disorders
Research into the causes, the diagnosis, and the treatment of autism spectrum
disorders has advanced in tandem. With new well-researched standardized
diagnostic tools, ASD can be diagnosed at an early age. And with early
diagnosis, the treatments found to be beneficial in recent years can be used to
help the child with ASD develop to his or her greatest potential.
In the past few years, there has been public interest in a theory that suggested
a link between the use of thimerosal, a mercury-based preservative used in the
measles-mumps-rubella (MMR) vaccine, and autism. Although mercury is no longer
found in childhood vaccines in the United States, some parents still have
concerns about vaccinations. Many well-done, large-scale studies have now been
done that have failed to show a link between thimerosal and autism. A panel from
the Institute of Medicine is now examining these studies, including a large
Danish study that concluded that there was no causal relationship between
childhood vaccination using thimerosal-containing vaccines and the development
of an autism spectrum disorder,27 and a U.S. study looking at exposure to
mercury, lead, and other heavy metals.
Research on the Biologic Basis of ASD
Because of its relative inaccessibility, scientists have only recently been able
to study the brain systematically. But with the emergence of new brain imaging
tools—computerized tomography (CT), positron emission tomography (PET), single
photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI),
study of the structure and the functioning of the brain can be done. With the
aid of modern technology and the new availability of both normal and autism
tissue samples to do postmortem studies, researchers will be able to learn much
through comparative studies.
Postmortem and MRI studies have shown that many major brain structures are
implicated in autism. This includes the cerebellum, cerebral cortex, limbic
system, corpus callosum, basal ganglia, and brain stem.28 Other research is
focusing on the role of neurotransmitters such as serotonin, dopamine, and
epinephrine.
Research into the causes of autism spectrum disorders is being fueled by other
recent developments. Evidence points to genetic factors playing a prominent role
in the causes for ASD. Twin and family studies have suggested an underlying
genetic vulnerability to ASD.29 To further research in this field, the Autism
Genetic Resource Exchange, a project initiated by the Cure Autism Now
Foundation, and aided by an NIMH grant, is recruiting genetic samples from
several hundred families. Each family with more than one member diagnosed with
ASD is given a 2-hour, in-home screening. With a large number of DNA samples, it
is hoped that the most important genes will be found. This will enable
scientists to learn what the culprit genes do and how they can go wrong.
Another exciting development is the Autism Tissue Program (http://www.brainbank.org),
supported by the Autism Society of America Foundation, the Medical Investigation
of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of
California, Davis, and the National Alliance for Autism Research. The program is
aided by a grant to the Harvard Brain and Tissue Resource Center (http://www.brainbank.mclean.org),
funded by the National Institute of Mental Health (NIMH) and the National
Institute of Neurological Disorders and Stroke (NINDS). Studies of the
postmortem brain with imaging methods will help us learn why some brains are
large, how the limbic system develops, and how the brain changes as it ages.
Tissue samples can be stained and will show which neurotransmitters are being
made in the cells and how they are transported and released to other cells. By
focusing on specific brain regions and neurotransmitters, it will become easier
to identify susceptibility genes.
Recent neuroimaging studies have shown that a contributing cause for autism may
be abnormal brain development beginning in the infant's first months. This
"growth dysregulation hypothesis" holds that the anatomical abnormalities seen
in autism are caused by genetic defects in brain growth factors. It is possible
that sudden, rapid head growth in an infant may be an early warning signal that
will lead to early diagnosis and effective biological intervention or possible
prevention of autism.30
For detailed information on autism spectrum disorders research, see NIMH
research fact sheet, Autism Spectrum Disorders Research.
The Children's Health Act of 2000—What It Means to Autism Research
The Children's Health Act of 2000 was responsible for the creation of the
Interagency Autism Coordinating Committee (IACC), a committee that includes the
directors of five NIH institutes—the National Institute of Mental Health, the
National Institute of Neurological Disorders and Stroke, the National Institute
on Deafness and Other Communication Disorders (NIDCD), the National Institute of
Child Health and Human Development (NICHD), and the National Institute of
Environmental Health Sciences (NIEHS)—as well as representatives from the Health
Resource Services Administration, the National Center on Birth Defects and
Developmental Disabilities (a part of the Centers for Disease Control), the
Agency for Toxic Substances and Disease Registry, the Substance Abuse and Mental
Health Services Administration, the Administration on Developmental
Disabilities, the Centers for Medicare and Medicaid Services, the U.S. Food and
Drug Administration, and the U.S. Department of Education. The Committee,
instructed by the Congress to develop a 10-year agenda for autism research,
introduced the plan, dubbed a "matrix" or a "roadmap," at the first Autism
Summit Conference in November 2003. The roadmap indicates priorities for
research for years 1 to 3, years 4 to 6, and years 7 to 10.
The five NIH institutes of the IACC have established the Studies to Advance
Autism Research and Treatment (STAART) Network, composed of eight network
centers. They will conduct research in the fields of developmental neurobiology,
genetics, and psychopharmacology. Each center is pursuing its own particular mix
of studies, but there also will be multi-site clinical trials within the STAART
network.
The STAART centers are located at the following sites:
University of North Carolina, Chapel Hill
Yale University, Connecticut
University of Washington, Seattle
University of California, Los Angeles
Mount Sinai Medical School, New York
Kennedy Krieger Institute, Maryland
Boston University, Massachusetts
University of Rochester, New York
A data coordination center will analyze the data generated by both the STAART
network and the Collaborative Programs of Excellence in Autism (CPEA). This
latter program, funded by the NICHD and the NIDCD Network on the Neurobiology
and Genetics of Autism, consists of 10 sites. The CPEA is at present studying
the world's largest group of well-diagnosed individuals with autism
characterized by genetic and developmental profiles.
The CPEA centers are located at:
Boston University, Massachusetts
University of California, Davis
University of California, Irvine
University of California, Los Angeles
Yale University, Connecticut
University of Washington, Seattle
University of Rochester, New York
University of Texas, Houston
University of Pittsburgh, Pennsylvania
University of Utah, Salt Lake City
The NIEHS has programs at:
Center for Childhood Neurotoxicology and Assessment, University of Medicine &
Dentistry, New Jersey
The Center for the Study of Environmental Factors in the Etiology of Autism,
University of California, Davis
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This brochure was written by Margaret Strock, Office of Communications, NIMH.
Scientific information and review were provided by NIMH staff members Stephen
Foote, MD; Ann Wagner, PhD; Audrey Thurm, PhD; Benjamin Vitiello, MD; Douglas
Meinecke, PhD; and Judith Cooper, PhD, National Institute on Deafness and Other
Communication Disorders. Editorial assistance was provided by Ruth Dubois and
Antoinette Cooper.
--------------------------------------------------------------------------------
All material in this brochure is in the public domain and may be reproduced or
copied without permission from the Institute. Citation of the National Institute
of Mental Health as the source is appreciated.
NIH Publication No.04-5511
April 2004
Citation for this publication:
Strock, Margaret (2004). Autism Spectrum Disorders (Pervasive Developmental
Disorders). NIH Publication No. NIH-04-5511, National Institute of Mental
Health, National Institutes of Health, U.S. Department of Health and Human
Services, Bethesda, MD, 40 pp. http://www.nimh.nih.gov/publicat/autism.cfm
To order a printed copy, call 1-866-615-NIMH (6464) toll-free. For additional
information, please visit the NIMH Web site at: http://www.nimh.nih.gov
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