Autism Facts

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.

Pediatricians have a routine screening for developmental milestones as part of the “well child” visits, but if you have concerns with your child, have it done sooner. Your observations are critical to identifying any problems early on.

As more children are diagnosed with autism, there is a huge effort and awareness for early detection of the symptoms. 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. These 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.

Your pediatrician should refer you to a Developmental Doctor when he sees any indicators of ASD, further screening and evaluation will have to be implemented.

What is Autism

Autism is a complex developmental disability that typically appears during the first three years of life and is the result of a neurological disorder that affects the normal functioning of the brain, impacting development in the areas of social interaction and communication skills. Both children and adults with autism typically show difficulties in verbal and non-verbal communication, social interactions, and leisure or play activities.¹ In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way objects look. It presents in each individual differently. It is more prevalent in boys than girls.

Most autistic children are perfectly normal in appearance, but spend their time engaged in puzzling and disturbing behaviors which are markedly different from those of normal children. They may stare into space for hours, throw uncontrollable tantrums, show no interest in people (including their parents) and pursue strange, repetitive activities with no apparent purpose. They have been described as living in a world of their own. ²

Early Signs and Symptoms

Children with ASD do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. As this may be manifested by the child either being extremely passive or extremely difficult. Not meeting the expected milestone such as babbling, pointing and responding to social interaction with the parents or siblings are also common indicators. Some children meet all the developmental milestones but begin to lose acquired language and social skills gradually, oftentimes between the age of 12 to 36 months old. The differences in their reaction with other people and emergence of unusual play behaviors become apparent. Some report the change as being dramatic as some children suddenly start to reject people, act strangely and lose any language acquired. These differences between them and other neurotypical peers become more noticeable as the children get older.

Major Characteristics of Autism

Difficulty with social interactions

Many individuals with autism do not spontaneously reach out to others to share information or feelings. They often do not know how to engage in simple social interactions, such as sharing an experience with another person. For example, a three-year-old child with autism may not point to an animal so that his sister will notice it, too. Social skill deficits can make the development of intimate relationships quite difficult. However, with effective treatment, many people with autism eventually learn to initiate interactions and respond to others more successfully.

Difficulty with communication

One of the hallmarks of autism is a delay in or a lack of development of spoken lan-guage. Many individuals with autism do develop speech. Their vocabulary may consist of a few words or many words; sentences may be simple (one or two words) or complex. Common speech abnormalities include echolalia (immediate or delayed repeating of information), unconventional word use, and unusual tone, pitch, and inflection. Even when more complex speech is acquired, individuals with autism typically have poor conversational skills. They may also have difficulty understanding common, nonverbal cues such as body language, facial expressions, and eye contact. Unfortunately, not all children with autism develop functional speech. However, many of these individuals with autism do learn to communicate through picture boards, computers, sign language, and other augmentative devices.

Unusual behaviors

Individuals with autism have a restricted range of interests. For example, a six-year-old child with autism may only play with his or her toy train to the exclusion of all other toys. Additionally, people with autism may engage in peculiar, sustained play activities such as spinning the wheels on a toy car rather than pretending to drive it, or finding a shoestring and dangling it in front of his or her eyes for long periods of time. Individuals with autism can also be very resistant to changes in routine. Even a minor change could be a great upset to a child or adult with autism. ⁴

Associated characteristics

Individuals in the spectrum vary in their manifestation of the disability. Besides the 3 major characteristics, they may also show some or a combination of the following:

Little or no eye contact
Acts as though deaf
Uneven development of skills
Resistance to changes in routine
Marked physical overactivity and/or extreme passivity
Lack of demonstration of typical signs of affection
Little or no apparent fear of real dangers
Unusual responses to sensations, including a high tolerance for pain
Inappropriate laughing or crying
Inappropriate attachments to objects
Eating, sleeping, and toileting difficulties
Aggressive or self-injurious behavior
Savant abilities (present in less than 2% of individuals diagnosed with autism)

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. In ASD, the brain seems unable to balance the senses appropriately. Some ASD children are oblivious to extreme cold or pain. 4 The inability to filter unimportant information may make them over-react to seemingly subtle input to the senses such as a light touch or a background noise.

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 develop seizures, often starting either in early childhood or adolescence. Seizures, caused by abnormal electrical activity in the brain, can produce a temporary loss of consciousness (a "blackout"), a body convulsion, unusual movements, or staring spells. Sometimes a contributing factor is a lack of sleep or a high fever. An EEG (electroencephalogram—recording of the electric currents developed in the brain by means of electrodes applied to the scalp) can help confirm the seizure's presence. In most cases, seizures can be controlled by a number of medicines called "anticonvulsants." The dosage of the medication is adjusted carefully so that the least possible amount of medication will be used to be effective.

Fragile X syndrome

This disorder is the most common inherited form of mental retardation. It was so named because one part of the X chromosome has a defective piece that appears pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. It is important to have a child with ASD checked for Fragile X, especially if the parents are considering having another child. For an unknown reason, if a child with ASD also has Fragile X, there is a one-in-two chance that boys born to the same parents will have the syndrome. Other members of the family who may be contemplating having a child may also wish to be checked for the syndrome.

Tuberous Sclerosis

Tuberous sclerosis is a rare genetic disorder that causes benign tumors to grow in the brain as well as in other vital organs. It has a consistently strong association with ASD. One to 4 percent of people with ASD also have tuberous sclerosis.

Parents will usually raise the concern to their pediatrician when certain milestones are not met. In evaluating a child, clinicians rely on behavioral characteristics to make a diagnosis. 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.

Diagnosing Autism

Problems that may accompany ASD