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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. 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.

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. 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. Info from NIMH.

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.

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.

Clinicians rely on behavioral characteristics to make a diagnosis when evaluating a child for ASDs. 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.

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.