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) 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
The autism spectrum disorders can often be reliably detected by the
age of 3 years, and in some cases as early as 18 months. 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suddenly becomes silent, withdrawn, self-abusive, or indifferent to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 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,
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.
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. 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
Possible Indicators of Autism Spectrum Disorders
Does not babble, point, or make meaningful gestures by 1 year of
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
At times seems to be hearing impaired
From the start, typically developing infants are social beings. Early
in life, they gaze at people, turn toward voices, grasp a finger, and
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.
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.
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. 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. 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.
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.
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.
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. Reviewing family
videotapes, photos, and baby albums can help parents remember when each
behavior was first noticed and when the child reached certain
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), the modified Checklist for Autism
in Toddlers (M-CHAT), the Screening Tool
for Autism in Two-Year-Olds (STAT), and
the Social Communication Questionnaire (SCQ)
(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
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),
the Australian Scale for Asperger's Syndrome, and the most recent, the Childhood Asperger Syndrome Test
(CAST), 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 ASDs 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. In addition, measures developed
specifically for diagnosing autism are often used. These include the
Autism Diagnosis Interview-Revised (ADI-R)
and the Autism Diagnostic Observation Schedule (ADOS-G). 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). 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.
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.
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
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.