Recent statistics suggest that 1 out of every 110 children, 1.5 million people, born every year in the United States will be diagnosed with some form of an autism spectrum disorder. Boys are three times as likely to be affected as girls. Autism is a complex developmental disorder that causes impaired social interaction and communication, as well as causing restricted and sometimes repetitive behavior.
Symptoms are suspected when a child around 18 months has delayed speech development, and has difficulty playing with other children. Genetic causes are suspected to be a large factor, as well as some environmental causes, but a definitive cause is not known.
Treatment consists of several different types of therapy geared towards each patient’s needs, such as physical therapy, speech therapy, and behavioral analysis and modification. Some medications may be appropriate such as anti-anxiety medications (Klonopin, Ativan, Xanax), medications for hyperactivity ((ex. Concerta, Ritalin, Strattera), and risperidone (Risperdal) for irritability and aggression.
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.
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.
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.
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.
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.
Therapy
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” 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.
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.
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.
Symptoms of autism spectrum disorder (ASD) vary from one child to the next, but in general, they fall into three areas:
- Social impairment
- Communication difficulties
- 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. According to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition – Text Revision, 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
- Do not readily 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, children with Asperger syndrome 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. For more information on mental health issues in children with ASD, see the section: What are some other conditions that children with ASD may have?
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.1 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.
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?
Although there are many concerns about labeling a young child with an ASD, the earlier the diagnosis of ASD is made, the earlier needed interventions can begin. Evidence over the last 15 years indicates that intensive early intervention in optimal educational settings for at least 2 years during the preschool years results in improved outcomes in most young children with ASD.
In evaluating a child, clinicians rely on behavioral characteristics to make a diagnosis. Some of the characteristic behaviors of ASD may be apparent in the first few months of a child’s life, or they may appear at any time during the early years. For the diagnosis, problems in at least one of the areas of communication, socialization, or restricted behavior must be present before the age of. 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.
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. 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), the modified Checklist for Autism in Toddlers (M-CHAT), the Screening Tool for Autism in Two-Year-Olds (STAT), and the Social Communication Questionnaire (SCQ) (for children 4 years of age and older).
Some screening instruments rely solely on parent responses to a questionnaire, and some rely on a combination of parent report and observation. Key items on these instruments that appear to differentiate children with autism from other groups before the age of 2 include pointing and pretend play. Screening instruments do not provide individual diagnosis but serve to assess the need for referral for possible diagnosis of ASD. These screening methods may not identify children with mild ASD, such as those with high-functioning autism or 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), the Australian Scale for Asperger’s Syndrome, and the most recent, the Childhood Asperger Syndrome Test (CAST), are some of the instruments that are reliable for identification of school-age children with Asperger syndrome or higher functioning autism. These tools concentrate on social and behavioral impairments in children without significant language delay.
If, following the screening process or during a routine “well child” check-up, your child’s doctor sees any of the possible indicators of ASD, further evaluation is indicated.
Comprehensive Diagnostic Evaluation
The second stage of diagnosis must be comprehensive in order to accurately rule in or rule out an ASD or other developmental problem. This evaluation may be done by a multidisciplinary team that includes a psychologist, a neurologist, a psychiatrist, a speech therapist, or other professionals who diagnose children with ASD.
Because ASDs are complex disorders and may involve other neurological or genetic problems, a comprehensive evaluation should entail neurologic and genetic assessment, along with in-depth cognitive and language testing. In addition, measures developed specifically for diagnosing autism are often used. These include the Autism Diagnosis Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS-G). The ADI-R is a structured interview that contains over 100 items and is conducted with a caregiver. It consists of four main factors—the child’s communication, social interaction, repetitive behaviors, and age-of-onset symptoms. The ADOS-G is an observational measure used to “press” for socio-communicative behaviors that are often delayed, abnormal, or absent in children with ASD.
Still another instrument often used by professionals is the Childhood Autism Rating Scale (CARS). It aids in evaluating the child’s body movements, adaptation to change, listening response, verbal communication, and relationship to people. It is suitable for use with children over 2 years of age. The examiner observes the child and also obtains relevant information from the parents. The child’s behavior is rated on a scale based on deviation from the typical behavior of children of the same age.
Two other tests that should be used to assess any child with a developmental delay are a formal audiologic hearing evaluation and a lead screening. Although some hearing loss can co-occur with ASD, some children with ASD may be incorrectly thought to have such a loss. In addition, if the child has suffered from an ear infection, transient hearing loss can occur. Lead screening is essential for children who remain for a long period of time in the oral-motor stage in which they put any and everything into their mouths. Children with an autistic disorder usually have elevated blood lead levels.
Customarily, an expert diagnostic team has the responsibility of thoroughly evaluating the child, assessing the child’s unique strengths and weaknesses, and determining a formal diagnosis. The team will then meet with the parents to explain the results of the evaluation.
Although parents may have been aware that something was not “quite right” with their child, when the diagnosis is given, it is a devastating blow. At such a time, it is hard to stay focused on asking questions. But while members of the evaluation team are together is the best opportunity the parents will have to ask questions and get recommendations on what further steps they should take for their child. Learning as much as possible at this meeting is very important, but it is helpful to leave this meeting with the name or names of professionals who can be contacted if the parents have further questions.
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.
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. 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.
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.
Living Arrangements for the Adult with an Autism Spectrum Disorder
Independent living.
Some adults with ASD are able to live entirely on their own. Others can live semi-independently in their own home or apartment if they have assistance with solving major problems, such as personal finances or dealing with the government agencies that provide services to persons with disabilities. This assistance can be provided by family, a professional agency, or another type of provider.
Living at home.
Government funds are available for families that choose to have their adult child with ASD live at home. These programs include Supplemental Security Income (SSI), Social Security Disability Insurance (SSDI), Medicaid waivers, and others. Information about these programs is available from the Social Security Administration (SSA). An appointment with a local SSA office is a good first step to take in understanding the programs for which the young adult is eligible.
Foster homes and skill-development homes.
Some families open their homes to provide long-term care to unrelated adults with disabilities. If the home teaches self-care and housekeeping skills and arranges leisure activities, it is called a “skill-development” home.
Supervised group living. Persons with disabilities frequently live in group homes or apartments staffed by professionals who help the individuals with basic needs. These often include meal preparation, housekeeping, and personal care needs. Higher functioning persons may be able to live in a home or apartment where staff only visit a few times a week. These persons generally prepare their own meals, go to work, and conduct other daily activities on their own.
Long-term care facilities.
This alternative is available for those with ASD who need intensive, constant supervision.