Autism Spectrum Disorders

Course Objectives

1.  Describe the criteria necessary for diagnosing autism spectrum disorder.

2.  Identify the causes of Autism spectrum disorder.

3.  Describe the medications used to treat Autism.

4   Identify co-occurring disorders and the differential diagnosis of Autism.

 Introduction

Not until the middle of the twentieth century was there a name for a disorder that now appears to affect an estimated 3.4 every 1,000 children ages 3-10, 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 When an engaging, babbling toddler suddenly becomes silent, withdrawn, self-abusive, or indifferent to social overtures, something is wrong.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 below.

Prevalence

In 2007 - the most recent government survey on the rate of autism - the Centers for Disease Control (CDC) found that the rate is higher than the rates found from studies conducted in the United States during the 1980s and early 1990s (survey based on data from 2000 and 2002). The CDC survey assigned a diagnosis of autism spectrum disorder based on health and school records of 8 year olds in 14 communities throughout the U.S. Debate continues about whether this represents a true increase in the prevalence of autism. Changes in the criteria used to diagnose autism, along with increased recognition of the disorder by professionals and the public may all be contributing factors. Nonetheless, the CDC report confirms other recent epidemiologic studies documenting that more children are being diagnosed with an ASD than ever before.

Data from an earlier report of the CDC's Atlanta-based program found the rate of autism spectrum disorder was 3.4 per 1,000 for children 3 to 10 years of age. Summarizing this and several other major studies on autism prevalence, CDC estimates that 2-6 per 1,000 (from 1 in 500 to 1 in 150) children have an ASD. The risk is 3-4 times higher in males than females. Compared to the prevalence of other childhood conditions, this rate is lower than the rate of mental retardation (9.7 per 1,000 children), but higher than the rates for cerebral palsy (2.8 per 1,000 children), hearing loss (1.1 per 1,000 children), and vision impairment (0.9 per 1,000 children).3 The CDC notes that these studies do not provide a national estimate.

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.

**Fombonne, 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 A recent study of a U.S. metropolitan area estimated that 3.4 of every 1,000 children 3-10 years old had autism.3 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.”

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.4

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. 5 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. 6 Other members of the family who may be contemplating having a child may also wish to be checked for the syndrome.

A distinction can be made between a father's and mother's ability to pass along to a daughter or son the altered gene on the X chromosome that is linked to fragile X syndrome. Because both males (XY) and females (XX) have at least one X chromosome, both can pass on the mutated gene to their children.

A father with the altered gene for Fragile X on his X chromosome will only pass that gene on to his daughters. He passes a Y chromosome on to his sons, which doesn't transmit the condition. Therefore, if the father has the altered gene on his X chromosome, but the mother's X chromosomes are normal, all of the couple's daughters would have the altered gene for Fragile X, while none of their sons would have the mutated gene. Because mothers pass on only X chromosomes to their children, if the mother has the altered gene for Fragile X, she can pass that gene to either her sons or her daughters. If the mother has the mutated gene on one X chromosome and has one normal X chromosome, and the father has no genetic mutations, all the children have a 50-50 chance of inheriting the mutated gene.

The odds noted here apply to each child the parents have 7 in terms of prevalence, the latest statistics are consistent in showing that 5% of people with autism are affected by fragile X and 10% to 15% of those with fragile X show autistic traits.

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.8

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.9

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.9 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),10 the modified Checklist for Autism in Toddlers (M-CHAT),11 the Screening Tool for Autism in Two-Year-Olds (STAT),12 and the Social Communication Questionnaire (SCQ)13 (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),14 the Australian Scale for Asperger's Syndrome,15 and the most recent, the Childhood Asperger Syndrome Test (CAST),16 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.9 In addition, measures developed specifically for diagnosing autism are often used. These include the Autism Diagnosis Interview-Revised (ADI-R)17 and the Autism Diagnostic Observation Schedule (ADOS-G).18 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).19 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.9

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 righ” 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.

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”20 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.21, 22

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.23

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.24

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.25

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.5

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.26

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.

On October 6, 2006 the U.S. Food and Drug Administration (FDA) approved risperidone (generic name) or Risperdal (brand name) for the symptomatic treatment of irritability in autistic children and adolescents ages 5 to 16. The approval is the first for the use of a drug to treat behaviors associated with autism in children. These behaviors are included under the general heading of irritability, and include aggression, deliberate self-injury and temper tantrums.

Olanzapine (Zyprexa) and other antipsychotic medications are used "off-label" for the treatment of aggression and other serious behavioral disturbances in children, including children with autism. Off-label means a doctor will prescribe a medication to treat a disorder or in an age group that is not included among those approved by the FDA. Other medications are used to address symptoms or other disorders in children with autism. Fluoxetine (Prozac) and sertraline (Zoloft) are approved by the FDA for children age 7 and older with obsessive-compulsive disorder. Fluoxetine is also approved for children age 8 and older for the treatment of depression.

Fluoxetine and sertraline are antidepressants known as selective serotonin reuptake inhibitors (SSRIs). Despite the relative safety and popularity of SSRIs and other antidepressants, some studies have suggested that they may have unintentional effects on some people, especially adolescents and young adults. In 2004, after a thorough review of data, the Food and Drug Administration (FDA) adopted a "black box" warning label on all antidepressant medications to alert the public about the potential increased risk of suicidal thinking or attempts in children and adolescents taking antidepressants. In 2007, the agency extended the warning to include young adults up to age 25. A "black box" warning is the most serious type of warning on prescription drug labeling. The warning emphasizes that patients of all ages should be closely monitored, especially during the initial weeks of treatment, for any worsening depression, suicidal thinking or behavior, or any unusual changes in behavior such as sleeplessness, agitation, or withdrawal from normal social situations.

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 inser” 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.27 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“atypica” 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®).28 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-developmen” 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.

Disorders/Vaccinations

The Institute of Medicine (IOM) conducted a thorough review on the issue of a link between thimerosal (a mercury based preservative that is no longer used in vaccinations) and autism. The final report from IOM, Immunization Safety Review: Vaccines and Autism, released in May 2004, stated that the committee did not find a link.

Until 1999, vaccines given to infants to protect them against diphtheria, tetanus, pertussis, Haemophilus influenzae type b (Hib), and Hepatitis B contained thimerosal as a preservative. Today, with the exception of some flu vaccines, none of the vaccines used in the U.S. to protect preschool aged children against 12 infectious diseases contain thimerosal as a preservative. The MMR vaccine does not and never did contain thimerosal. Varicella (chickenpox), inactivated polio (IPV), and pneumococcal conjugate vaccines have also never contained thimerosal.

A U.S. study looking at environmental factors including exposure to mercury, lead and other heavy metals is ongoing.

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.29 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.30 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 hypothesi” 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.31

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“matri” 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

Causes

Scientists don't know the exact causes of autism spectrum disorder (ASD), but research suggests that both genes and environment play important roles.

Genetic factors

In identical twins who share the exact same genetic code, if one has ASD, the other twin also has ASD in nearly 9 out of 10 cases. If one sibling has ASD, the other siblings have 35 times the normal risk of also developing the disorder. Researchers are starting to identify particular genes that may increase the risk for ASD.

Still, scientists have only had some success in finding exactly which genes are involved. For more information about such cases, see the information below about Fragile X syndrome and tuberous sclerosis.


Most people who develop ASD have no reported family history of autism, suggesting that random, rare, and possibly many gene mutations are likely to affect a person's risk. Any change to normal genetic information is called a mutation. Mutations can be inherited, but some arise for no reason. Mutations can be helpful, harmful, or have no effect.


Having increased genetic risk does not mean a child will definitely develop ASD. Many researchers are focusing on how various genes interact with each other and environmental factors to better understand how they increase the risk of this disorder.


Environmental factors


In medicine, "environment" refers to anything outside of the body that can affect health. This includes the air we breathe, the water we drink and bathe in, the food we eat, the medicines we take, and many other things that our bodies may come in contact with. Environment also includes our surroundings in the womb, when our mother's health directly affects our growth and earliest development.


Researchers are studying many environmental factors such as family medical conditions, parental age and other demographic factors, exposure to toxins, and complications during birth or pregnancy.


As with genes, it's likely that more than one environmental factor is involved in increasing risk for ASD. And, like genes, any one of these risk factors raises the risk by only a small amount. Most people who have been exposed to environmental risk factors do not develop ASD. Scientists are studying how certain environmental factors may affect certain genes—turning them on or off, or increasing or decreasing their normal activity. This process is called epigenetics and is providing researchers with many new ways to study how disorders like ASD develop and possibly change over time.


ASD and vaccines


Health experts recommend that children receive a number of vaccines early in life to protect against dangerous, infectious diseases, such as measles. Since pediatricians in the United States started giving these vaccines during regular checkups, the number of children getting sick, becoming disabled, or dying from these diseases has dropped to almost zero.


Children in the United States receive several vaccines during their first 2 years of life, around the same age that ASD symptoms often appear or become noticeable. A minority of parents suspect that vaccines are somehow related to their child's disorder. Some may be concerned about these vaccines due to the unproven theory that ASD may be caused by thimerosal. Thimerosal is a mercury-based chemical once added to some, but not all, vaccines to help extend their shelf life. However, except for some flu vaccines, no vaccine routinely given to preschool aged children in the United States has contained thimerosal since 2001. Despite this change, the rate of children diagnosed with ASD has continued to rise.


Other parents believe their child's illness might be linked to vaccines designed to protect against more than one disease, such as the measles-mumps-rubella (MMR) vaccine, which never contained thimerosal.


Many studies have been conducted to try to determine if vaccines are a possible cause of autism. As of 2010, none of the studies has linked autism and vaccines.


Early Signs & Symptoms


Symptoms of autism spectrum disorder (ASD) vary from one child to the next, but in general, they fall into two areas:

  • Social impairment, including difficulties with social communication
  • Repetitive and stereotyped behaviors.

Children with ASD do not follow typical patterns when developing social and communication skills. Parents are usually the first to notice unusual behaviors in their child. Often, certain behaviors become more noticeable when comparing children of the same age.


In some cases, babies with ASD may seem different very early in their development. Even before their first birthday, some babies become overly focused on certain objects, rarely make eye contact, and fail to engage in typical back-and-forth play and babbling with their parents. Other children may develop normally until the second or even third year of life, but then start to lose interest in others and become silent, withdrawn, or indifferent to social signals. Loss or reversal of normal development is called regression and occurs in some children with ASD.


Social impairment


Most children with ASD have trouble engaging in everyday social interactions. For example, some children with ASD may:

  • Make little eye contact
  • Tend to look and listen less to people in their environment or fail to respond to other people
  • Rarely seek to share their enjoyment of toys or activities by pointing or showing things to others
  • Respond unusually when others show anger, distress, or affection.

Recent research suggests that children with ASD do not respond to emotional cues in human social interactions because they may not pay attention to the social cues that others typically notice. For example, one study found that children with ASD focus on the mouth of the person speaking to them instead of on the eyes, which is where children with typical development tend to focus. A related study showed that children with ASD appear to be drawn to repetitive movements linked to a sound, such as hand-clapping during a game of pat-a-cake. More research is needed to confirm these findings, but such studies suggest that children with ASD may misread or not notice subtle social cues-a smile, a wink, or a grimace-that could help them understand social relationships and interactions. For these children, a question such as, "Can you wait a minute?" always means the same thing, whether the speaker is joking, asking a real question, or issuing a firm request. Without the ability to interpret another person's tone of voice as well as gestures, facial expressions, and other nonverbal communications, children with ASD may not properly respond.


Likewise, it can be hard for others to understand the body language of children with ASD. Their facial expressions, movements, and gestures are often vague or do not match what they are saying. Their tone of voice may not reflect their actual feelings either. Many older children with ASD speak with an unusual tone of voice and may sound sing-song or flat and robotlike.


Children with ASD also may have trouble understanding another person's point of view. For example, by school age, most children understand that other people have different information, feelings, and goals than they have. Children with ASD may lack this understanding, leaving them unable to predict or understand other people's actions.


Communication issues


According to the American Academy of Pediatrics' developmental milestones, by the first birthday, typical toddlers can say one or two words, turn when they hear their name, and point when they want a toy. When offered something they do not want, toddlers make it clear with words, gestures, or facial expressions that the answer is "no."


For children with ASD, reaching such milestones may not be so straightforward. For example, some children with autism may:

  • Fail or be slow to respond to their name or other verbal attempts to gain their attention
  • Fail or be slow to develop gestures, such as pointing and showing things to others
  • Coo and babble in the first year of life, but then stop doing so
  • Develop language at a delayed pace
  • Learn to communicate using pictures or their own sign language
  • Speak only in single words or repeat certain phrases over and over, seeming unable to combine words into meaningful sentences
  • Repeat words or phrases that they hear, a condition called echolalia
  • Use words that seem odd, out of place, or have a special meaning known only to those familiar with the child's way of communicating.

Even children with ASD who have relatively good language skills often have difficulties with the back and forth of conversations. For example, because they find it difficult to understand and react to social cues, some highly verbal children with ASD often talk at length about a favorite subject, but they won't allow anyone else a chance to respond or notice when others react indifferently.
Children with ASD who have not yet developed meaningful gestures or language may simply scream or grab or otherwise act out until they are taught better ways to express their needs. As these children grow up, they can become aware of their difficulty in understanding others and in being understood. This awareness may cause them to become anxious or depressed.


Repetitive and stereotyped behaviors


Children with ASD often have repetitive motions or unusual behaviors. These behaviors may be extreme and very noticeable, or they can be mild and discreet. For example, some children may repeatedly flap their arms or walk in specific patterns, while others may subtly move their fingers by their eyes in what looks to be a gesture. These repetitive actions are sometimes called "stereotypy" or "stereotyped behaviors."


Children with ASD also tend to have overly focused interests. Children with ASD may become fascinated with moving objects or parts of objects, like the wheels on a moving car. They might spend a long time lining up toys in a certain way, rather than playing with them. They may also become very upset if someone accidentally moves one of the toys. Repetitive behavior can also take the form of a persistent, intense preoccupation. For example, they might be obsessed with learning all about vacuum cleaners, train schedules, or lighthouses. Children with ASD often have great interest in numbers, symbols, or science topics.


While children with ASD often do best with routine in their daily activities and surroundings, inflexibility may often be extreme and cause serious difficulties. They may insist on eating the same exact meals every day or taking the same exact route to school. A slight change in a specific routine can be extremely upsetting. Some children may even have emotional outbursts, especially when feeling angry or frustrated or when placed in a new or stimulating environment.


No two children express exactly the same types and severity of symptoms. In fact, many typically developing children occasionally display some of the behaviors common to children with ASD. However, if you notice your child has several ASD-related symptoms, have your child screened and evaluated by a health professional experienced with ASD.


Who Is At Risk?


Studies measuring autism spectrum disorder (ASD) prevalence—the number of children affected by ASD over a given time period—have reported varying results, depending on when and where the studies were conducted and how the studies defined ASD.


A survey by the Centers for Disease Control and Prevention (CDC)  of health and school records of 8-year-olds in 11 communities throughout the country found that in 2010, the rate of ASD was higher than in past U.S. studies, around 1 in 68 children. Boys face about four to five times higher risk than girls.


Experts disagree about whether this shows a true increase in ASD prevalence. Since the earlier studies were completed, guidelines for diagnosis have changed. Also, many more parents and doctors now know about ASD, so parents are more likely to take their children to be diagnosed, and more doctors are able to properly diagnose ASD. These and other changes may help explain some differences in prevalence numbers. Even so, the CDC report confirms other recent studies showing that more children are being diagnosed with ASD than ever before.


Diagnosis


Autism spectrum disorder (ASD) diagnosis is often a two-stage process. The first stage involves general developmental screening during well-child checkups with a pediatrician or an early childhood health care provider. Children who show some developmental problems are referred for additional evaluation. The second stage involves a thorough evaluation by a team of doctors and other health professionals with a wide range of specialties. At this stage, a child may be diagnosed as having ASD or another developmental disorder.


Children with ASD can usually be reliably diagnosed by age 2, though research suggests that some screening tests can be helpful at 18 months or even younger. Many people—including pediatricians, family doctors, teachers, and parents—may minimize signs of ASD at first, believing that children will "catch up" with their peers. While you may be concerned about labeling your young child with ASD, the earlier the disorder is diagnosed, the sooner specific interventions may begin. Early intervention can reduce or prevent the more severe disabilities associated with ASD. Early intervention may also improve your child's IQ, language, and everyday functional skills, also called adaptive behavior.


Screening


A well-child checkup should include a developmental screening test, with specific ASD screening at 18 and 24 months as recommended by the American Academy of Pediatrics. Screening for ASD is not the same as diagnosing ASD. Screening instruments are used as a first step to tell the doctor whether a child needs more testing. If your child's pediatrician does not routinely screen your child for ASD, ask that it be done.


For parents, your own experiences and concerns about your child's development will be very important in the screening process. Keep your own notes about your child's development and look through family videos, photos, and baby albums to help you remember when you first noticed each behavior and when your child reached certain developmental milestones.


Types of ASD screening instruments


Sometimes the doctor will ask parents questions about the child's symptoms to screen for ASD. Other screening instruments combine information from parents with the doctor's own observations of the child. Examples of screening instruments for toddlers and preschoolers include:

  • Checklist of Autism in Toddlers (CHAT)
  • Modified Checklist for Autism in Toddlers (M-CHAT)
  • Screening Tool for Autism in Two-Year-Olds (STAT)
  • Social Communication Questionnaire (SCQ)
  • Communication and Symbolic Behavior Scales (CSBS).

To screen for mild ASD in older children, the doctor may rely on different screening instruments, such as:

  • Autism Spectrum Screening Questionnaire (ASSQ)
  • Australian Scale for Asperger's Syndrome (ASAS)
  • Childhood Asperger Syndrome Test (CAST).

Comprehensive diagnostic evaluation


The second stage of diagnosis must be thorough in order to find whether other conditions may be causing your child's symptoms.


A team that includes a psychologist, a neurologist, a psychiatrist, a speech therapist, or other professionals experienced in diagnosing ASD may do this evaluation. The evaluation may assess the child's cognitive level (thinking skills), language level, and adaptive behavior (age-appropriate skills needed to complete daily activities independently, for example eating, dressing, and toileting).
Because ASD is a complex disorder that sometimes occurs along with other illnesses or learning disorders, the comprehensive evaluation may include brain imaging and gene tests, along with in-depth memory, problem-solving, and language testing. Children with any delayed development should also get a hearing test as part of the comprehensive evaluation.


Although children can lose their hearing along with developing ASD, common ASD symptoms (such as not turning to face a person calling their name) can also make it seem that children cannot hear when in fact they can. If a child is not responding to speech, especially to his or her name, it's important for the doctor to test whether a child has hearing loss.


The evaluation process is a good time for parents and caregivers to ask questions and get advice from the whole evaluation team. The outcome of the evaluation will help plan for treatment and interventions to help your child. Be sure to ask who you can contact with follow-up questions.


What are some other conditions that children with ASD may have?
Sensory problems


Children with autism spectrum disorder (ASD) either overreact or underreact to certain sights, sounds, smells, textures, and tastes. For example, some may:

  • Dislike or show discomfort from a light touch or the feel of clothes on their skin
  • Experience pain from certain sounds, like a vacuum cleaner, a ringing telephone, or a sudden storm; sometimes they will cover their ears and scream
  • Have no reaction to intense cold or pain.

Researchers are trying to determine if these unusual reactions are related to differences in integrating multiple types of information from the senses.


Sleep problems


Children with ASD tend to have problems falling asleep or staying asleep, or have other sleep problems. These problems make it harder for them to pay attention, reduce their ability to function, and lead to poor behavior. In addition, parents of children with ASD and sleep problems tend to report greater family stress and poorer overall health among themselves.


Fortunately, sleep problems can often be treated with changes in behavior, such as following a sleep schedule or creating a bedtime routine. Some children may sleep better using medications such as melatonin, which is a hormone that helps regulate the body's sleep-wake cycle. Like any medication, melatonin can have unwanted side effects. Talk to your child's doctor about possible risks and benefits before giving your child melatonin. Treating sleep problems in children with ASD may improve the child's overall behavior and functioning, as well as relieve family stress.


Intellectual disability


Many children with ASD have some degree of intellectual disability. When tested, some areas of ability may be normal, while others—especially cognitive (thinking) and language abilities—may be relatively weak. For example, a child with ASD may do well on tasks related to sight (such as putting a puzzle together) but may not do as well on language-based problem-solving tasks. Some children with ASD (such as those formerly diagnosed with Asperger’s syndrome) often have average or above-average language skills and do not show delays in cognitive ability or speech.


Seizures


One in four children with ASD has seizures, often starting either in early childhood or during the teen years. Seizures, caused by abnormal electrical activity in the brain, can result in

  • A short-term loss of consciousness, or a blackout
  • Convulsions, which are uncontrollable shaking of the whole body, or unusual movements
  • Staring spells.

Sometimes lack of sleep or a high fever can trigger a seizure. An electroencephalogram (EEG), a nonsurgical test that records electrical activity in the brain, can help confirm whether a child is having seizures. However, some children with ASD have abnormal EEGs even if they are not having seizures.


Seizures can be treated with medicines called anticonvulsants. Some seizure medicines affect behavior; changes in behavior should be closely watched in children with ASD. In most cases, a doctor will use the lowest dose of medicine that works for the child. Anticonvulsants usually reduce the number of seizures but may not prevent all of them.


Fragile X syndrome


Fragile X syndrome is a genetic disorder and is the most common form of inherited intellectual disability, causing symptoms similar to ASD. The name refers to one part of the X chromosome that has a defective piece that appears pinched and fragile when viewed with a microscope. Fragile X syndrome results from a change, called a mutation, on a single gene. This mutation, in effect, turns off the gene. Some people may have only a small mutation and not show any symptoms, while others have a larger mutation and more severe symptoms.


Around 1 in 3 children who have Fragile X syndrome also meet the diagnostic criteria for ASD, and about 1 in 25 children diagnosed with ASD have the mutation that causes Fragile X syndrome. Because this disorder is inherited, children with ASD should be checked for Fragile X, especially if the parents want to have more children. Other family members who are planning to have children may also want to be checked for Fragile X syndrome.

Tuberous sclerosis


Tuberous sclerosis is a rare genetic disorder that causes noncancerous tumors to grow in the brain and other vital organs. Tuberous sclerosis occurs in 1 to 4 percent of people with ASD. A genetic mutation causes the disorder, which has also been linked to intellectual disability, epilepsy, and many other physical and mental health problems. There is no cure for tuberous sclerosis, but many symptoms can be treated.


Gastrointestinal problems


Some parents of children with ASD report that their child has frequent gastrointestinal (GI) or digestion problems, including stomach pain, diarrhea, constipation, acid reflux, vomiting, or bloating. Food allergies may also cause problems for children with ASD. It's unclear whether children with ASD are more likely to have GI problems than typically developing children. If your child has GI problems, a doctor who specializes in GI problems, called a gastroenterologist, can help find the cause and suggest appropriate treatment.


Some studies have reported that children with ASD seem to have more GI symptoms, but these findings may not apply to all children with ASD. For example, a recent study found that children with ASD in Minnesota were more likely to have physical and behavioral difficulties related to diet (for example, lactose intolerance or insisting on certain foods), as well as constipation, than children without ASD. The researchers suggested that children with ASD may not have underlying GI problems, but that their behavior may create GI symptoms—for example, a child who insists on eating only certain foods may not get enough fiber or fluids in his or her diet, which leads to constipation.


Some parents may try to put their child on a special diet to control ASD or GI symptoms. While some children may benefit from limiting certain foods, there is no strong evidence that these special diets reduce ASD symptoms. If you want to try a special diet, first talk with a doctor or a nutrition expert to make sure your child's nutritional needs are being met.


Co-occurring mental disorders


Children with ASD can also develop mental disorders such as anxiety disorders, attention deficit hyperactivity disorder (ADHD), or depression. Research shows that people with ASD are at higher risk for some mental disorders than people without ASD. Managing these co-occurring conditions with medications or behavioral therapy, which teaches children how to control their behavior, can reduce symptoms that appear to worsen a child's ASD symptoms. Controlling these conditions will allow children with ASD to focus more on managing the ASD.


Related Disorders


Rett syndrome is another developmental disorder which includes a regression in development. Only 1 of every 10,000 to 22,000 girls has Rett syndrome.


Unlike ASD, Rett syndrome mostly affects girls. In general, children with Rett syndrome develop normally for 6–18 months before regression and autism-like symptoms begin to appear. Children with Rett syndrome may also have difficulties with coordination, movement, and speech. Physical, occupational, and speech therapy can help, but no specific treatment for Rett syndrome is available yet.


With funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, scientists have discovered that a mutation in the sequence of a single gene is linked to most cases of Rett syndrome. This discovery may help scientists find ways to slow or stop the progress of the disorder. It may also improve doctors' ability to diagnose and treat children with Rett syndrome earlier, improving their overall quality of life.


Treatments


While there's no proven cure yet for autism spectrum disorder (ASD), treating ASD early, using school-based programs, and getting proper medical care can greatly reduce ASD symptoms and increase your child's ability to grow and learn new skills.


Early intervention


Research has shown that intensive behavioral therapy during the toddler or preschool years can significantly improve cognitive and language skills in young children with ASD. There is no single best treatment for all children with ASD, but the American Academy of Pediatrics recently noted common features of effective early intervention programs. These include:

  • Starting as soon as a child has been diagnosed with ASD
  • Providing focused and challenging learning activities at the proper developmental level for the child for at least 25 hours per week and 12 months per year
  • Having small classes to allow each child to have one-on-one time with the therapist or teacher and small group learning activities
  • Having special training for parents and family
  • Encouraging activities that include typically developing children, as long as such activities help meet a specific learning goal
  • Measuring and recording each child's progress and adjusting the intervention program as needed
  • Providing a high degree of structure, routine, and visual cues, such as posted activity schedules and clearly defined boundaries, to reduce distractions
  • Guiding the child in adapting learned skills to new situations and settings and maintaining learned skills
  • Using a curriculum that focuses on
    • Language and communication
    • Social skills, such as joint attention (looking at other people to draw attention to something interesting and share in experiencing it)
    • Self-help and daily living skills, such as dressing and grooming
    • Research-based methods to reduce challenging behaviors, such as aggression and tantrums
    • Cognitive skills, such as pretend play or seeing someone else's point of view
    • Typical school-readiness skills, such as letter recognition and counting.

One type of a widely accepted treatment is applied behavior analysis (ABA). The goals of ABA are to shape and reinforce new behaviors, such as learning to speak and play, and reduce undesirable ones. ABA, which can involve intensive, one-on-one child-teacher interaction for up to 40 hours a week, has inspired the development of other, similar interventions that aim to help those with ASD reach their full potential. ABA-based interventions include:

  • Verbal Behavior—focuses on teaching language using a sequenced curriculum that guides children from simple verbal behaviors (echoing) to more functional communication skills through techniques such as errorless teaching and prompting
  • Pivotal Response Training—aims at identifying pivotal skills, such as initiation and self-management, that affect a broad range of behavioral responses. This intervention incorporates parent and family education aimed at providing skills that enable the child to function in inclusive settings.

Other types of early interventions include:

  • Developmental, Individual Difference, Relationship-based(DIR)/Floortime Model—aims to build healthy and meaningful relationships and abilities by following the natural emotions and interests of the child. One particular example is the Early Start Denver Model, which fosters improvements in communication, thinking, language, and other social skills and seeks to reduce atypical behaviors. Using developmental and relationship-based approaches, this therapy can be delivered in natural settings such as the home or pre-school.
  • TEACCH (Treatment and Education of Autistic and related Communication handicapped Children)—emphasizes adapting the child's physical environment and using visual cues (for example, having classroom materials clearly marked and located so that students can access them independently). Using individualized plans for each student, TEACCH builds on the child's strengths and emerging skills.
  • Interpersonal Synchrony—targets social development and imitation skills, and focuses on teaching children how to establish and maintain engagement with others.

For children younger than age 3, these interventions usually take place at home or in a child care center. Because parents are a child's earliest teachers, more programs are beginning to train parents to continue the therapy at home.


Students with ASD may benefit from some type of social skills training program. While these programs need more research, they generally seek to increase and improve skills necessary for creating positive social interactions and avoiding negative responses. For example, Children's Friendship Training focuses on improving children's conversation and interaction skills and teaches them how to make friends, be a good sport, and respond appropriately to teasing.


Working with your child's school


Start by speaking with your child's teacher, school counselor, or the school's student support team to begin an evaluation. Each state has a Parent Training and Information Center and a Protection and Advocacy Agency that can help you get an evaluation. A team of professionals conducts the evaluation using a variety of tools and measures. The evaluation will look at all areas related to your child's abilities and needs.


Once your child has been evaluated, he or she has several options, depending on the specific needs. If your child needs special education services and is eligible under the Individuals with Disabilities Education Act (IDEA), the school district (or the government agency administering the program) must develop an individualized education plan, or IEP specifically for your child within 30 days.
If your child is not eligible for special education services—not all children with ASD are eligible—he or she can still get free public education suited to his or her needs, which is available to all public-school children with disabilities under Section 504 of the Rehabilitation Act of 1973, regardless of the type or severity of the disability.


During middle and high school years, your child's teachers will begin to discuss practical issues such as work, living away from a parent or caregiver's home, and hobbies. These lessons should include gaining work experience, using public transportation, and learning skills that will be important in community living.


Medications


Some medications can help reduce symptoms that cause problems for your child in school or at home. Many other medications may be prescribed off-label, meaning they have not been approved by the U.S. Food and Drug Administration (FDA) for a certain use or for certain people. Doctors may prescribe medications off-label if they have been approved to treat other disorders that have similar symptoms to ASD, or if they have been effective in treating adults or older children with ASD. Doctors prescribe medications off-label to try to help the youngest patients, but more research is needed to be sure that these medicines are safe and effective for children and teens with ASD.


At this time, the only medications approved by the FDA to treat aspects of ASD are the antipsychotics risperidone (Risperdal) and aripripazole (Abilify). These medications can help reduce irritability—meaning aggression, self-harming acts, or temper tantrums—in children ages 5 to 16 who have ASD.
Some medications that may be prescribed off-label for children with ASD include the following:

  • Antipsychotic medications are more commonly used to treat serious mental illnesses such as schizophrenia. These medicines may help reduce aggression and other serious behavioral problems in children, including children with ASD. They may also help reduce repetitive behaviors, hyperactivity, and attention problems.
  • Antidepressant medications, such as fluoxetine (Prozac) or sertraline (Zoloft), are usually prescribed to treat depression and anxiety but are sometimes prescribed to reduce repetitive behaviors. Some antidepressants may also help control aggression and anxiety in children with ASD. However, researchers still are not sure if these medications are useful; a recent study suggested that the antidepressant citalopram (Celexa) was no more effective than a placebo (sugar pill) at reducing repetitive behaviors in children with ASD.
  • Stimulant medications, such as methylphenidate (Ritalin), are safe and effective in treating people with attention deficit hyperactivity disorder (ADHD). Methylphenidate has been shown to effectively treat hyperactivity in children with ASD as well. But not as many children with ASD respond to treatment, and those who do have shown more side effects than children with ADHD and not ASD.

FDA warning about antidepressants


Antidepressants are safe and popular, but some studies have suggested that they may have unintended effects on some people, especially in teens and young adults. The FDA warning says that patients of all ages taking antidepressants should be watched closely, especially during the first few weeks of treatment. Possible side effects to look for are depression that gets worse, suicidal thinking or behavior, or any unusual changes in behavior such as trouble sleeping, agitation, or withdrawal from normal social situations. Families and caregivers should report any changes to the doctor. A child with ASD may not respond in the same way to medications as typically developing children. You should work with a doctor who has experience treating children with ASD. The doctor will usually start your child on the lowest dose that helps control problem symptoms. Ask the doctor about any side effects of the medication and keep a record of how your child reacts to the medication. The doctor should regularly check your child's response to the treatment.
You have many options for treating your child's ASD. However, not all of them have been proven to work through scientific studies. Read the patient information that comes with your child's medication. Some people keep these patient inserts along with their other notes for easy reference. This is most useful when dealing with several different prescription medications. You should get all the facts about possible risks and benefits and talk to more than one expert when possible before trying a new treatment on your child.


Living With


After your child is diagnosed with autism spectrum disorder (ASD), you may feel unprepared or unable to provide your child with the necessary care and education. Know that there are many treatment options, social services and programs, and other resources that can help.
Some tips that can help you and your child are:

  • Keep a record of conversations, meetings with health care providers and teachers, and other sources of information. This will help you remember the different treatment options and decide which would help your child most.
  • Keep a record of the doctors' reports and your child's evaluation. This information may help your child qualify for special programs.
  • Contact your local health department or autism advocacy groups to learn about the special programs available in your state and local community.
  • Talk with your child's pediatrician, school system, or an autism support group to find an autism expert in your area who can help you develop an intervention plan and find other local resources.

Understanding teens with ASD


The teen years can be a time of stress and confusion for any growing child, including teenagers with autism spectrum disorder (ASD).


During the teenage years, adolescents become more aware of other people and their relationships with them. While most teenagers are concerned with acne, popularity, grades, and dates, teens with ASD may become painfully aware that they are different from their peers. For some, this awareness may encourage them to learn new behaviors and try to improve their social skills. For others, hurt feelings and problems connecting with others may lead to depression, anxiety, or other mental disorders. One way that some teens with ASD may express the tension and confusion that can occur during adolescence is through increased autistic or aggressive behavior. Teens with ASD will also need support to help them understand the physical changes and sexual maturation they experience during adolescence.


If your teen seems to have trouble coping, talk with his or her doctor about possible co-occurring mental disorders and what you can do. Behavioral therapies and medications often help.


Preparing for your child's transition to adulthood


The public schools' responsibility for providing services ends when a child with ASD reaches the age of 22. At that time, some families may struggle to find jobs to match their adult child's needs. If your family cannot continue caring for an adult child at home, you may need to look for other living arrangements. For more information, see the section, "Living arrangements for adults with ASD."
Long before your child finishes school, you should search for the best programs and facilities for young adults with ASD. If you know other parents of adults with ASD, ask them about the services available in your community. Local support and advocacy groups may be able to help you find programs and services that your child is eligible to receive as an adult.


Another important part of this transition is teaching youth with ASD to self-advocate. This means that they start to take on more responsibility for their education, employment, health care, and living arrangements. Adults with ASD or other disabilities must self-advocate for their rights under the Americans with Disabilities Act at work, in higher education, in the community, and elsewhere.


Living arrangements for adults with ASD


There are many options for adults living with ASD. Helping your adult child choose the right one will largely depend on what is available in your state and local community, as well as your child's skills and symptoms. Below are some examples of living arrangements you may want to consider:

  • Independent living. Some adults with ASD are able to live on their own. Others can live in their own home or apartment if they get help dealing with major issues, such as managing personal finances, obtaining necessary health care, and interacting with government or social service agencies. Family members, professional agencies, or other types of providers can offer this assistance.
  • Living at home. Government funds are available for families who choose to have their adult child with ASD live at home. These programs include Supplemental Security Income, Social Security Disability Insurance, and Medicaid waivers. Information about these programs and others is available from the Social Security Administration (SSA). Make an appointment with your local SSA office to find out which programs would be right for your adult child.
  • Other home alternatives. Some families open their homes to provide long-term care to adults with disabilities who are not related to them. If the home teaches self-care and housekeeping skills and arranges leisure activities, it is called a "skill-development" home.
  • Supervised group living. People with disabilities often live in group homes or apartments staffed by professionals who help with basic needs. These needs often include meal preparation, housekeeping, and personal care. People who are more independent may be able to live in a home or apartment where staff only visit a few times a week. Such residents generally prepare their own meals, go to work, and conduct other daily activities on their own.
  • Long-term care facilities. This alternative is available for those with ASD who need intensive, constant supervision.

Clinical Trials


Many recent research studies have focused on finding the earliest signs of autism spectrum disorder (ASD). These studies aim to help doctors diagnose children at a younger age so they can get needed interventions as quickly as possible.


For example, one early sign of ASD may be increased head size or rapid head growth. Brain imaging studies have shown that abnormal brain development beginning in an infant's first months may have a role in ASD. This theory suggests that genetic defects in growth factors, which direct proper brain development, cause the brain abnormalities seen in autism. It's possible that an infant's sudden, rapid head growth may be an early warning signal, which could help in early diagnosis and treatment or possible prevention of ASD. Current studies on ASD treatment are exploring many approaches, such as:

  • A computer-based training program designed to teach children with ASD how to create and respond to facial expressions appropriately
  • A medication that may help improve functioning in children with Fragile X syndrome
  • New social interventions that can be used in the classroom or other "everyday" settings
  • An intervention parents can follow to reduce and prevent ASD-related disability in children at high risk for the disorder.
Screening and Diagnosis

Diagnosing autism spectrum disorder (ASD) can be difficult, since there is no medical test, like a blood test, to diagnose the disorders. Doctors look at the child’s behavior and development to make a diagnosis.
ASD can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable However, many children do not receive a final diagnosis until much older. This delay means that children with an ASD might not get the help they need.
Diagnosing an ASD takes two steps:

  • Developmental Screening
  • Comprehensive Diagnostic Evaluation

Developmental Screening


Developmental screening is a short test to tell if children are learning basic skills when they should, or if they might have delays. During developmental screening the doctor might ask the parent some questions or talk and play with the child during an exam to see how she learns, speaks, behaves, and moves. A delay in any of these areas could be a sign of a problem.
All children should be screened for developmental delays and disabilities during regular well-child doctor visits at:

  • 9 months
  • 18 months
  • 24 or 30 months
  • Additional screening might be needed if a child is at high risk for developmental problems due to preterm birth, low birth weight or other reasons.

In addition, all children should be screened specifically for ASD during regular well-child doctor visits at:

  • 18 months
  • 24 months
  • Additional screening might be needed if a child is at high risk for ASD (e.g., having a sister, brother or other family member with an ASD) or if behaviors sometimes associated with ASD are present

It is important for doctors to screen all children for developmental delays, but especially to monitor those who are at a higher risk for developmental problems due to preterm birth, low birth weight, or having a brother or sister with an ASD.


If your child’s doctor does not routinely check your child with this type of developmental screening test, ask that it be done.
If the doctor sees any signs of a problem, a comprehensive diagnostic evaluation is needed.


Comprehensive Diagnostic Evaluation


The second step of diagnosis is a comprehensive evaluation. This thorough review may include looking at the child’s behavior and development and interviewing the parents. It may also include a hearing and vision screening, genetic testing, neurological testing, and other medical testing.
In some cases, the primary care doctor might choose to refer the child and family to a specialist for further assessment and diagnosis. Specialists who can do this type of evaluation include:

  • Developmental Pediatricians (doctors who have special training in child development and children with special needs)
  • Child Neurologists (doctors who work on the brain, spine, and nerves)
  • Child Psychologists or Psychiatrists (doctors who know about the human mind)
Screening and Diagnosis for Healthcare Providers

Developmental screening can be done by a number of professionals in health care, community, and school settings. However, primary health care providers are in a unique position to promote children’s developmental health.


Primary care providers have regular contact with children before they reach school age and are able to provide family-centered, comprehensive, coordinated care, including a more complete medical assessment when a screening indicates a child is at risk for a developmental problem.


Screening Recommendations


Research has found that ASD can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable However, many children do not receive a final diagnosis until they are much older. This delay means that children with an ASD might not get the help they need. The earlier an ASD is diagnosed, the sooner services can begin.


The American Academy of Pediatrics (AAP) recommends that all children be screened for developmental delays and disabilities during regular well-child doctor visits at:

  • 9 months
  • 18 months
  • 24 or 30 months

Additional screening might be needed if a child is at high risk for developmental problems because of preterm birth or low birth weight.


In addition, all children should be screened specifically for ASD during regular well-child doctor visits at:

  • 18 months
  • 24 months

Additional screening might be needed if a child is at high risk for ASD (e.g., having a sibling with an ASD) or if symptoms are present.


It is important for doctors to screen all children for developmental delays, but especially to monitor those who are at a higher risk for developmental problems due to preterm birth, low birth weight, or having a sibling or parent with an ASD.


Developmental Screening in Pediatric and Primary Care Practice


Integrating routine developmental screening into the practice setting can seem daunting. Following are suggestions for integrating screening services into primary care efficiently and at low cost, while ensuring thorough coordination of care.

Involving Families in Screening


Research indicates that parents are reliable sources of information about their children’s development. Evidence-based screening tools that incorporate parent reports (e.g., Ages and Stages Questionnaire, the Parents’ Evaluation of Developmental Status, and Child Development Inventories) can facilitate structured communication between parents and providers to discover parent concerns, increase parent and provider observations of the child’s development, and increase parent awareness. Such tools can also be time- and cost-efficient in clinical practice settings. A 1998 analysis found that, depending on the instrument, the time for administering a screening tool ranged from about 2 to 15 minutes, and the cost of materials and administration (using an average salary of $50/hour) ranged from $1.19 to $4.60 per visit.


Screening children and providing parents with anticipatory guidance―that is, educating families about what to expect in their child’s development, how they can promote development, and the benefits of monitoring development―can also improve the relationship between the provider and parent. By establishing relationship-based practices, providers promote positive parent-child relationships, while building the strongest possible relationship between the parent and provider. Such practices are fundamental to quality services. 


Developmental Screening Tools


Screening tools are designed to help identify children who might have developmental delays. Screening tools can be specific to a disorder (for example, autism) or an area (for example, cognitive development, language, or gross motor skills), or they may be general, encompassing multiple areas of concern. Some screening tools are used primarily in pediatric practices, while others are used by school systems or in other community settings.


Screening tools do not provide conclusive evidence of developmental delays and do not result in diagnoses. A positive screening result should be followed by a thorough assessment. Screening tools do not provide in-depth information about an area of development.


Selecting a Screening Tool


When selecting a developmental screening tool, take the following into consideration:

  • Domain(s) the Sreening Tool Covers
    What are the questions that need to be answered?
    What types of delays or conditions do you want to detect?
  • Psychometric Properties
    These affect the overall ability of the test to do what it is meant to do.
    • The sensitivity of a screening tool is the probability that it will correctly identify children who exhibit developmental delays or disorders.
    • The specificity of a screening tool is the probability that it will correctly identify children who are developing normally.
  • Characteristics of the Child
    For example, age and presence of risk factors.
  • Setting in which the Screening Tool will be Administered
    Will the tool be used in a physician’s office, daycare setting, or community setting? Screening can be performed by professionals, such as nurses or teachers, or by trained paraprofessionals.

Types of Screening Tools
There are many different developmental screening tools. CDC does not approve or endorse any specific tools for screening purposes. This list is not exhaustive, and other tests may be available.
Selected examples of screening tools for general development and ASD:

  • Ages and Stages Questionnaires (ASQ)
    This is a general developmental screening tool. Parent-completed questionnaire; series of 19 age-specific questionnaires screening communication, gross motor, fine motor, problem-solving, and personal adaptive skills; results in a pass/fail score for domains.
  • Communication and Symbolic Behavior Scales (CSBS)
    Standardized tool for screening of communication and symbolic abilities up to the 24-month level; the Infant Toddler Checklist is a 1-page, parent-completed screening tool.
  • Parents’ Evaluation of Developmental Status (PEDS)
    This is a general developmental screening tool. Parent-interview form; screens for developmental and behavioral problems needing further evaluation; single response form used for all ages; may be useful as a surveillance tool.
  • Modified Checklist for Autism in Toddlers (MCHAT)
    Parent-completed questionnaire designed to identify children at risk for autism in the general population.
  • Screening Tool for Autism in Toddlers and Young Children (STAT)
    This is an interactive screening tool designed for children when developmental concerns are suspected. It consists of 12 activities assessing play, communication, and imitation skills and takes 20 minutes to administer.

A more comprehensive list of developmental screening tools is available from the American Academy of Pediatrics (AAP), including descriptions of the tools, sensitivity and specificity. The list includes general screening tools, as well as those for ASDs.

Author: National Institute of Mental Health
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