Autism Spectrum Disorders (Pervasive Developmental Disorders) (continued)

A child with ASD may not respond in the same way to medications as typically developing children. It is important that parents work with a doctor who has experience with children with autism. A child should be monitored closely while taking a medication. The doctor will prescribe the lowest dose possible to be effective. Ask the doctor about any side effects the medication may have and keep a record of how your child responds to the medication. It will be helpful to read the "patient insert" that comes with your child's medication. Some people keep the patient inserts in a small notebook to be used as a reference. This is most useful when several medications are prescribed.

Anxiety and depression. The selective serotonin reuptake inhibitors (SSRI's) are the medications most often prescribed for symptoms of anxiety, depression, and/or obsessive-compulsive disorder (OCD). Only one of the SSRI's, fluoxetine, (Prozac®) has been approved by the FDA for both OCD and depression in children age 7 and older. Three that have been approved for OCD are fluvoxamine (Luvox®), age 8 and older; sertraline (Zoloft®), age 6 and older; and clomipramine (Anafranil®), age 10 and older.⁴ Treatment with these medications can be associated with decreased frequency of repetitive, ritualistic behavior and improvements in eye contact and social contacts. The FDA is studying and analyzing data to better understand how to use the SSRI's safely, effectively, and at the lowest dose possible.

Behavioral problems. Antipsychotic medications have been used to treat severe behavioral problems. These medications work by reducing the activity in the brain of the neurotransmitter dopamine. Among the older, typical antipsychotics, such as haloperidol (Haldol®), thioridazine, fluphenazine, and chlorpromazine, haloperidol was found in more than one study to be more effective than a placebo in treating serious behavioral problems.²⁶ However, haloperidol, while helpful for reducing symptoms of aggression, can also have adverse side effects, such as sedation, muscle stiffness, and abnormal movements.

Placebo-controlled studies of the newer "atypical" antipsychotics are being conducted on children with autism. The first such study, conducted by the NIMH-supported Research Units on Pediatric Psychopharmacology (RUPP) Autism Network, was on risperidone (Risperdal®).²⁷ Results of the 8-week study were reported in 2002 and showed that risperidone was effective and well tolerated for the treatment of severe behavioral problems in children with autism. The most common side effects were increased appetite, weight gain and sedation. Further long-term studies are needed to determine any long-term side effects. Other atypical antipsychotics that have been studied recently with encouraging results are olanzapine (Zyprexa®) and ziprasidone (Geodon®). Ziprasidone has not been associated with significant weight gain.

Seizures. Seizures are found in one in four persons with ASD, most often in those who have low IQ or are mute. They are treated with one or more of the anticonvulsants. These include such medications as carbamazepine (Tegretol®), lamotrigine (Lamictal®), topiramate (Topamax®), and valproic acid (Depakote®). The level of the medication in the blood should be monitored carefully and adjusted so that the least amount possible is used to be effective. Although medication usually reduces the number of seizures, it cannot always eliminate them.

Inattention and hyperactivity. Stimulant medications such as methylphenidate (Ritalin®), used safely and effectively in persons with attention deficit hyperactivity disorder, have also been prescribed for children with autism. These medications may decrease impulsivity and hyperactivity in some children, especially those higher functioning children.

Several other medications have been used to treat ASD symptoms; among them are other antidepressants, naltrexone, lithium, and some of the benzodiazepines such as diazepam (Valium®) and lorazepam (Ativan®). The safety and efficacy of these medications in children with autism has not been proven. Since people may respond differently to different medications, your child's unique history and behavior will help your doctor decide which medication might be most beneficial.

Adults with an Autism Spectrum Disorder

Some adults with ASD, especially those with high-functioning autism or with Asperger syndrome, are able to work successfully in mainstream jobs. Nevertheless, communication and social problems often cause difficulties in many areas of life. They will continue to need encouragement and moral support in their struggle for an independent life.

Many others with ASD are capable of employment in sheltered workshops under the supervision of managers trained in working with persons with disabilities. A nurturing environment at home, at school, and later in job training and at work, helps persons with ASD continue to learn and to develop throughout their lives.

The public schools' responsibility for providing services ends when the person with ASD reaches the age of 22. The family is then faced with the challenge of finding living arrangements and employment to match the particular needs of their adult child, as well as the programs and facilities that can provide support services to achieve these goals. Long before your child finishes school, you will want to search for the best programs and facilities for your young adult. If you know other parents of ASD adults, ask them about the services available in your community. If your community has little to offer, serve as an advocate for your child and work toward the goal of improved employment services. Research the resources listed in the back of this brochure to learn as much as possible about the help your child is eligible to receive as an adult.

Living Arrangements for the Adult with an Autism Spectrum Disorder

Independent living. Some adults with ASD are able to live entirely on their own. Others can live semi-independently in their own home or apartment if they have assistance with solving major problems, such as personal finances or dealing with the government agencies that provide services to persons with disabilities. This assistance can be provided by family, a professional agency, or another type of provider.

Living at home. Government funds are available for families that choose to have their adult child with ASD live at home. These programs include Supplemental Security Income (SSI), Social Security Disability Insurance (SSDI), Medicaid waivers, and others. Information about these programs is available from the Social Security Administration (SSA). An appointment with a local SSA office is a good first step to take in understanding the programs for which the young adult is eligible.

Foster homes and skill-development homes. Some families open their homes to provide long-term care to unrelated adults with disabilities. If the home teaches self-care and housekeeping skills and arranges leisure activities, it is called a "skill-development" home.

Supervised group living. Persons with disabilities frequently live in group homes or apartments staffed by professionals who help the individuals with basic needs. These often include meal preparation, housekeeping, and personal care needs. Higher functioning persons may be able to live in a home or apartment where staff only visit a few times a week. These persons generally prepare their own meals, go to work, and conduct other daily activities on their own.

Institutions. Although the trend in recent decades has been to avoid placing persons with disabilities into long-term-care institutions, this alternative is still available for persons with ASD who need intensive, constant supervision. Unlike many of the institutions years ago, today's facilities view residents as individuals with human needs and offer opportunities for recreation and simple but meaningful work.

Research into Causes and Treatment of Autism Spectrum Disorders

Research into the causes, the diagnosis, and the treatment of autism spectrum disorders has advanced in tandem. With new well-researched standardized diagnostic tools, ASD can be diagnosed at an early age. And with early diagnosis, the treatments found to be beneficial in recent years can be used to help the child with ASD develop to his or her greatest potential.

In the past few years, there has been public interest in a theory that suggested a link between the use of thimerosal, a mercury-based preservative used in the measles-mumps-rubella (MMR) vaccine, and autism. Although mercury is no longer found in childhood vaccines in the United States, some parents still have concerns about vaccinations. Many well-done, large-scale studies have now been done that have failed to show a link between thimerosal and autism. A panel from the Institute of Medicine is now examining these studies, including a large Danish study that concluded that there was no causal relationship between childhood vaccination using thimerosal-containing vaccines and the development of an autism spectrum disorder,²⁸ and a U.S. study looking at exposure to mercury, lead, and other heavy metals.

Research on the Biologic Basis of ASD

Because of its relative inaccessibility, scientists have only recently been able to study the brain systematically. But with the emergence of new brain imaging tools—computerized tomography (CT), positron emission tomography (PET), single photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI), study of the structure and the functioning of the brain can be done. With the aid of modern technology and the new availability of both normal and autism tissue samples to do postmortem studies, researchers will be able to learn much through comparative studies.

Postmortem and MRI studies have shown that many major brain structures are implicated in autism. This includes the cerebellum, cerebral cortex, limbic system, corpus callosum, basal ganglia, and brain stem.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 hypothesis" holds that the anatomical abnormalities seen in autism are caused by genetic defects in brain growth factors. It is possible that sudden, rapid head growth in an infant may be an early warning signal that will lead to early diagnosis and effective biological intervention or possible prevention of autism.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 "matrix" or a "roadmap," at the first Autism Summit Conference in November 2003. The roadmap indicates priorities for research for years 1 to 3, years 4 to 6, and years 7 to 10.

The five NIH institutes of the IACC have established the Studies to Advance Autism Research and Treatment (STAART) Network, composed of eight network centers. They will conduct research in the fields of developmental neurobiology, genetics, and psychopharmacology. Each center is pursuing its own particular mix of studies, but there also will be multi-site clinical trials within the STAART network.

The STAART centers are located at the following sites:

• University of North Carolina, Chapel Hill
• Yale University, Connecticut
• University of Washington, Seattle
• University of California, Los Angeles
• Mount Sinai Medical School, New York
• Kennedy Krieger Institute, Maryland
• Boston University, Massachusetts
• University of Rochester, New York

A data coordination center will analyze the data generated by both the STAART network and the Collaborative Programs of Excellence in Autism (CPEA). This latter program, funded by the NICHD and the NIDCD Network on the Neurobiology and Genetics of Autism, consists of 10 sites. The CPEA is at present studying the world's largest group of well-diagnosed individuals with autism characterized by genetic and developmental profiles.

The CPEA centers are located at:

• Boston University, Massachusetts
• University of California, Davis
• University of California, Irvine
• University of California, Los Angeles
• Yale University, Connecticut
• University of Washington, Seattle
• University of Rochester, New York
• University of Texas, Houston
• University of Pittsburgh, Pennsylvania
• University of Utah, Salt Lake City

The NIEHS has programs at:

• Center for Childhood Neurotoxicology and Assessment, University of Medicine & Dentistry, New Jersey
• The Center for the Study of Environmental Factors in the Etiology of Autism, University of California, Davis

Addendum to Autism Spectrum Disorders February 2007

This addendum to the booklet Autism Spectrum Disorders was prepared to clarify information contained in the booklet; and to provide updated information on the prevalence of autism spectrum disorders.

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).¹ The CDC notes that these studies do not provide a national estimate.

For additional data, please visit the autism section of the CDC Web site.

Fragile X

"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 syndrome². 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.