What is Autistic Disorder?

Autistic disorder (also called autism; more recently described as "mindblindedness") is a neurological and developmental disorder that usually appears during the first three years of life. A child with autistic disorder appears to live in his/her own world, showing little interest in others, and a lack of social awareness. The focus of an autistic child is a consistent routine and includes an interest in repeating odd and peculiar behaviors. Autistic children often have problems in communication, avoid eye contact, and show limited attachment to others.

More than 500,000 people in the US have been diagnosed with some form of autism. Autism can prevent a child from forming relationships with others (in part, due to an inability to interpret facial expressions or emotions). A child with autistic disorder may resist cuddling, play alone, be resistant to change, and/or have delayed speech development. Persons with autistic disorder tend to exhibit repeated body movements (such as flapping hands or rocking) and have unusual attachments to objects. However, many persons with autistic disorder excel consistently on certain mental tasks (i.e., counting, measuring, art, music, memory).

What causes Autistic Disorder?

The cause of autistic disorder is not known. Research indicates autistic disorder is a genetic disorder. It is believed that several genes are involved in the development of autistic disorder. Research studies in autistic disorder have found a variety of abnormalities in the brain structure and chemicals in the brain, however, there have been no consistent findings. One theory is the possibility that autistic disorder is a behavioral syndrome that includes several distinct conditions. However, parenting behaviours are not the cause or a contributing factor to the cause or causes of autistic disorder.

Who is affected by Autistic Disorder?

Between two and 13 out of every 10,000 children born are diagnosed with autistic disorder. Autistic disorder is more prevalent in boys than girls.

What are the symptoms of autistic disorder?

The following are the most common symptoms of autistic disorder. However, each child may experience symptoms differently. Symptoms may include:

  • does not socially interact well with others, including parents
    • shows a lack of interest in, or rejection of physical contact. Parents describe autistic infants as "unaffectionate". Autistic infants and children are not comforted by physical contact.
    • avoids making eye contact with others, including parents
    • fails to develop friends or interact with other children
  • does not communicate well with others
    • is delayed or does not develop language
    • once language is developed, does not use language to communicate with others
    • has echolalia (repeats words or phrases repeatedly, like an echo)
  • demonstrates repetitive behaviours
    • has repetitive motor movements (such as rocking and hand or finger flapping)
  • is preoccupied, usually with lights, moving objects, or parts of objects
  • does not like noise
  • has rituals
  • requires routines

The symptoms of autistic disorder may resemble other conditions or medical problems. Always consult your child's physician for a diagnosis.

How is autistic disorder diagnosed?

For the first time, standard guidelines have been developed to help identify autistic disorder in children before the age of 1. In the past, diagnosis of autistic disorder was often not made until late preschool-age or later. The new guidelines can help identify children with autistic disorder early, which means earlier, more effective treatment for the disorder.

The standardised guidelines were developed with assistance from 11 different organisations and were published in Neurology, a Journal of the American Academy of Neurology. According to the guidelines, all children before the age of 1 should routinely be screened for autistic disorder and other developmental delays at their well-child check-ups. Children that show developmental delays and other behaviour disorders should be further tested for autistic disorder. According to the guidelines, less than 30 percent of children undergo age-appropriate screening at their well-child check-ups.

By screening children early for autistic disorder, those diagnosed with the disorder can be treated immediately and aggressively.

What are the guidelines?

The standardised guidelines developed for the diagnosis of autistic disorder actually involve two levels of screening for autistic disorder. Level one screening, which should be performed for all children coming to a physician for well-child check-ups during their first year, should check for the following developmental deficits:

  • no babbling, pointing, or gesturing by age 12 months
  • no single words spoken by age 18 months
  • no two-word spontaneous (non-echolalic, or merely repeating the sounds of others) expressions by age 24 months
  • loss of any language or social skills at any age

The second level of screening should be performed if a child is identified in the first level of screening as developmentally delayed. The second level of screening is a more in-depth diagnosis and evaluation that can differentiate autistic disorder from other developmental disorders. The second level of screening may include more formal diagnostic procedures by clinicians skilled in diagnosing autistic disorder, including medical history, neurological evaluation, genetic testing, metabolic testing, electrophysiologic testing (i.e., CT scan, MRI, PET scan), among others.

Genetic testing involves an evaluation by a medical geneticist (a physician who has specialised training and certification in clinical genetics), particularly as there are several genetic syndromes which may cause autism, including Fragile-X, untreated phenylketonuria (PKU), neurofibromatosis, tuberous sclerosis, Rett syndrome, as well as a variety of chromosome abnormalities. A geneticist can determine whether the autistic disorder is caused due to a genetic disorder, or has no known genetic cause. If a genetic disorder is diagnosed, there may be other health problems involved. The chance for autistic disorder to occur in a future pregnancy would depend on the syndrome found. For example, PKU is an autosomal recessive disorder with a reoccurrence risk of one in four, or 25 percent, chance, while tuberous sclerosis is an autosomal dominant disorder, with a reoccurrence risk of 50 percent.

In cases where no genetic cause for the autistic disorder is identified, there is still a slightly increased chance for a couple to have another child with autistic disorder, with ranges averaging from 3 to 7 percent. The reason for this increase over the general population is thought to be because autistic disorder may result from several genes inherited from both parents acting in combination, in addition to unknown environmental factors. There is no action/inaction known that parents could have done, or did not do, to cause autistic disorder to occur in a child.

Always consult your child's physician for a diagnosis and for more information.

Treatment for autistic disorder

Specialised behavioural and educational programs are designed to treat autistic disorder. Behavioural therapy is used to teach social skills, motor skills and cognitive (thinking) skills. Behaviour modification is also useful in reducing or eliminating maladaptive behaviours. Individualised treatment planning for behavioural therapy is important as autistic children vary greatly in their behavioural needs. Intensive behaviour therapy during early childhood and home-based approaches training and involving parents are considered to produce the best results.

Special education programs that are highly structured focus on developing social skills, speech, language, self-care, and job skills. Medication is also helpful in treating some symptoms of autistic disorder in some children. Child and adolescent mental health professionals help families identify and participate in treatment programs based on an individual child's treatment needs. Specific treatment will be determined by your child's physician based on:

  • your child's age, overall health, and medical history
  • extent of the disorder
  • your child's symptoms
  • your child's tolerance for specific medications, procedures, or therapies
  • expectations for the course of the disorder
  • your opinion or preference

Prevention of autistic disorder

Preventive measures to reduce the incidence or severity of autistic disorders are not known at this time.