To date there is no medical test (e.g. blood test, x-ray or urine test) that can be used to detect autism. To further complicate the issue and make the diagnosis and subsequent treatment difficult:
no two children with autism behave the same way nor develop in the same manner
several other conditions may cause symptoms that resemble those of autism (Click here)
It is the;refore prudent to first rule out other disorders (including hearing loss). After that, a visit to a professional with experience in autism is necessary. This may be a child psychiatrist, psychologist, or developmental paediatrician.
The following medical tests may help with diagnosis:
Pre-screening Medical Tests
Hearing Loss Some children with autism can be wrongly diagnosed as deaf because they totally ignore sounds/noises surrounding them. An audiogram and typanogram can tell whether a child really has a hearing impairment. Audiologists or hearing specialists can test the hearing of any individual by measuring responses such as turning their head, blinking, or staring when a sound is presented.
Hearing loss test can now be carried out in most hospitals in Malaysia and Singapore even for very young kids.
Electroencephalogram (EEG)
An EEG measures brain waves that can show seizure disorders, tumours or other brain abnormalities. An EEG is a recording that shows the variations in electrical potentials at a number of scalp sites. An unhealthy brain may have large changes in electrical potential compared a healthy brain. However, in order to observe an unhealthy brain it must be compared to the same brain when it was healthy. (eg., to measure the changes when a brain undergoes a seizure, the EEG must last long enough for seizure to occur.) Often a video-EEG takes a day or even a few days. The patterns are then used to determine whether or not the brain is healthy. The results can also be used to determine which section of the brain is causing problems. Some of the more advanced hospitals in Malaysia and Singapore are equipped to carry out FF0 examinations.
Metabolic Screening
Blood and urine lab tests measure how a child metabolises food and its impact on growth and development. Some individuals with autism may benefit from special diets.
Genetic Testing
This blood test looks for abnormalities in the genes that could cause a developmental disability. It is ccmmon to do a blood test to exclude the possibility of the Fragile X Syndrome. This test is available at the Institute of Medical Research Kuala Lumpur.
Identification and Diagnosis
After the initial screening test, the specialist uses avariety of ways to identify the disorder:
Direct Observation, Interaction, and interviews Assessments
Information about a child’s emotional, social, communication and cognitive abilities is gathered through child-directed interactions and observations in various situations, including structured and unstructured play. By determining the child’s learning style and interaction pattern through play, an assessment can be made Parents and caregivers are also interviewed to gather detailed information about the child’s behaviour and early development. Looking through family videotapes, photos, and baby albums may help parents/caregivers remember when each behaviour first occurred and when the child reached important milestones. Parents/caregivers should be actively involved throughout these assessments. Use of Standardised Instruments
Standardised instruments/tests may be used to determine a child’s general developmental skills, including socialisation skills and coping skills, e.g. Vineland Adaptive Behaviour Scales and Childhood Autism Rating Scale (CARS). Scores are based on parent interviews and evaluator’s observations. Use of Intelligence Tests (IQ)
Intelligence tests may be used in an attempt to determine an individual’s intelligence based on standardised criteria. On the Wechsler Intelligence Scale for Children (WISCIII ), three scores are usually provided: Verbal IQ (VIQ), Performance IQ (PIQ), and a Full Scale IQ (FSIQ). Both the Verbal and Performance IQ scores are composites of five different sub-tests.
It is important to note that Intelligence Tests (IQ) do not necessarily measure a child with autism’s true abilities and unique potential to develop. See also Section 6.1. Other Considerations
Specialists may also consider other conditions that produce many of the same behaviours and symptoms as autism, such as Rett’s Syndrome or Asperger’s Syndrome. Diagnostic Criteria
After assessing observations and test results, the specialist makes a diagnosis of autism only if there is clear evidence of the following areas:
poor or limited social relationships
underdeveloped communication skills
repetitive behaviours, interests, and activities.
People with autism generally have some impairment within each of the above three areas. The diagnostic criteria also require that these symptoms appear by age 3.
However, some specialists are reluctant to give a diagnosis of autism. They fear that it will cause parents to lose hope. As a result, they may use general terms such as “Severe communication disorder with autism-like behaviours,” “multi-sensory system disorder,” and “sensory integration dysfunction” Children with milder or fewer symptoms are often diagnosed as having Pervasive Developmental Disorder (PDD) or “having autistic features” or “having autism like symptom”.
However it MUST be noted that these terms do not significantly change treatment options. Such terms may give parents false hope that the problems are only temporary, which is NOT true. Early intervention is CRITICAL to help such children to improve their chances of leading a normal life.
DSM IV
Diagnostic and Statistical Manual 4th Edition (DSM 1V) is commonly used (especially in USA). Basically, there are 12 diagnostic criteria for autism. These are grouped into 3 groups of characteristics/symptoms (group 1, 2 and 3), each with further subgroups.
Group (1) is related to impairment in social language. There are 4 subgroups of characteristics/symptoms within this group.
Group (2) is related to impairment in speech, language and communication. There are also 4 subgroups within this group.
Group (3) is related to stereotyped behaviours. This group also has 4 subgroups. By DSM IV criteria, a person is autistic when he displays a total of 6 or more characteristics/symptoms from group (1), group (2) and group (3) with at least 2 from group (1) and I each from group (2) and group (3).
It may also be necessary to carry out differential diagnosis to determine whether a child has autism or other closely related disorders.
CHAT
Another method commonly used by professionals for young children is the Checklist for Autism in Toddler (CHAT). With CHAT, it is now possible to detect autism as early as 18 months with reasonable accuracy. The two part CHAT test (listed below) involves:
asking parents a number of questions
Profesional making observations on the child’s behaviour
Section A - Ask Parent:
Does your child enjoy being swung, bounced on your knee, etc?
Does your child take an interest in other children?
Does your child like climbing on things, such as up stairs?
Does your child enjoy playing peek-a-boo/hide-and-seek?
Does your child ever pretend, for example, to make a cup of tea using a toy cup and teapot, or pretend other things?
Does your child ever use his/her index finger to point, to ask for something?
Does your child ever use his/her index finger to point, to indicate interest in something?
Can your child play properly with small toys (e.g. cars or bricks) without just mouthing, fiddling, or dropping them?
Does your child ever bring objects over to you, to show you something? Section B - GP’s observation
During the appointment, has the child made eye contact with you?
Get child’s attention, then point across the room at an interesting object and say “Oh look! There’s a (name a toy)!” Watch child’s face. Does the child look across to see what you are pointing at?
NOTE - to record yes on this item, ensure the child has not simply looked at your hand, but has actually looked at the object you are pointing at.
Get the child’s attention, then give child a miniature toy cup and teapot and say “Can you make a cup of tea?” Does the child pretend to pour out the tea, drink it etc?
NOTE - if you can elicit an example of pretending in some other game, score a yes on this item
Say to the child “Where’s the light?” or “Show me the light”. Does the child point with his/her index finger at the light?
NOTE - Repeat this with “Where’s the teddy?” or some other unreachable object, if child does not understand the word “light”. To record yes on this item, the child must have looked up at your face around the time of pointing.
Can the child build a tower of bricks? (If so, how many?) (Number of bricks...)
NOTE - It is not the intention of this site to help parents make clinical assessment/diagnosis of their children. Such work should be done by trained and qualified professionals
What Other Disorders Display Some of the signs of Autism?
There are several disorders that may have similar traits. These may be caused by a common underlying problem in brain functioning.
Mental Retardation
About 75 to 80 percent of people with autism are mentally retarded to some extent while 15 to 20 percent are considered severely retarded. However autism does not necessarily correspond with mental impairment. More than 10 percent of people with autism have an average or above average IQ. A few show exceptional intelligence.
Seizures
About one-third of the children with autism develop seizures. These can range from brief blackouts to full-blown body convulsions. Seizures start either in early childhood or adolescence. An EEG can help to confirm their presence. In most cases, seizures can be controlled with medication.
Fragile X Syndrome
This inherited disorder is due to a defective piece of the X-chromosome that appears pinched and fragile when seen under a microscope. Fragile X syndrome (aka Martin-Bell syndrome) occurs about 1 in every 1000 to 2000 males. It has been found in about 10 percent of people with autism, mostly males. Females may also be affected but generally in a milder way.
People with Fragile X syndrome are likely to have mental retardation. They also have many of the same symptoms as autism They may have unusual physical features (such as high arched palate, strabismus (lazy eye), large ears, long face, large testicles in males, poor muscle tone, flat feet, and sometimes mild, heart valve abnormalities) that are not typical of autism. Many hospitals and laboratories in Malaysia and Singapore (e.g. IMR in KL) can perform blood tests to diagnose Fragile X Syndrome.
Landau-Kleffner Syndrome (LKS)
Landau-Kleffner Syndrome (LKS) is a form of aphasia (loss of language). It usually develops between 3 and 7 years old. It is twice as common in males. Initially, these individuals have normal speech and vocabulary but gradually or suddenly lose their ability to understand and to speak.
People with LKS have abnormal EEG patterns (i.e. brain waves). Approximately 70% of people with LKS develop epilepsy. These seizures are infrequent, with or without convulsions.
One common characteristic of LKS is the failure to respond to sounds. Thus, parents may suspect their child of hearing loss. Autistic characteristics seen in LKS individuals include pam insensitivity, aggression, poor eye contact, insistence on sameness, and sleep problems. The cause of LKS is not known. It could be caused by a dysfunctional immune system, a virus or brain trauma.
Rett’s Syndrome
Rett’s Syndrome is a neurological disorder affecting mostly females. Children afflicted with Rett’s Syndrome often exhibit autistic-like behaviours, such as repetitive hand movements, prolonged toe walking, body rocking, and sleep problems. Rett’s Syndrome occurs in about 1 in 10,000 to 15,000 births. Typical characteristics include normal development until 1/2 to 1 1/2 years, shakiness of the torso, and possibly the limbs, unsteady, stiff-legged gait, breathing difficulties (hyperventilation, apnea, air swallowing), seizures (approximately 80% have epilepsy), teeth grinding and difficulty chewing, retarded growth and small head and hypo-activity (opposite of hyperactivity). The cause of Rett’s Syndrome is not known. It is likely to be a genetic disorder. In most cases, there is a regression in cognition, behaviour, social, and motor skills throughout their lifetime. Asperger’s Syndrome
Individuals with Asperger’s Syndrome exhibited many idiosyncratic, odd behaviour and
many of the following:
lucid speech even at young age (4-5 years); including good grammar and vocabulary
speech is sometimes stilted and repetitive, voice tends to be flat and emotionless
conversations revolve around self, obsession with complex topics, such as patterns, weather, music, history, etc. (Having very narrow interests and preoccupations)
often described as eccentric
Many with above normal IQ (in verbal ability) but below average range in other performance abilities.
many have difficulty in reading (dyslexia), writing problems, and difficulty with mathematics
lack of common sense
concrete thinkers (versus abstract)
movements tend to be clumsy and awkward
odd forms of self-stimulatory behaviour
socially aware but displays inappropriate reciprocal interaction
Researchers are of the opinion that Aspergerts Syndrome is probably hereditary in nature. Depression and bipolar disorder are often reported in those with Asperger’s Syndrome as well as in family members. In adulthood, many individuals with Aspergers Syndrome lead productive lives, living independently, manage to hold down a job (many are college professors, computer programmers, dentists), and raising a family. Sometimes people assume everyone who has autism and is high functioning has Asperger’s syndrome. However, it appears that there are several forms of high- functioning autism, and Asperger’s Syndrome is one form.
Tourette’s Syndrome
Tourette Syndrome is an inherited neurological disorder. It is characterized by involuntary body movements (tics) and uncontrollable vocal sounds. Symptoms can include eye blinking, repeated throat clearing or sniffing, arm thrusting, kicking movements, shoulder shrugging, or jumping.,which may resemble some of behaviours in children with autism. These and other symptoms typically appear before the age of 18. The condition occurs in all ethnic groups. Males are affected 1.5 to 3 times more often than females. Although the symptoms vary from person to person and range from very mild to severe, the majority of cases fall into the mild category. Associated conditions can include obsessive- compulsive behaviour, problems with attention and impulsiveness. The severity and frequency of the tics tend to decrease in adolescence and adulthood.
