Need for a change in approach and rationale in diagnosing autism

Dr N P Karthikeyen and Subathra Jeyaram throw light on identification, diagnosis, and the therapy aspect for autism

There is an increase in the incidence of autism in India and in the rest of the world. Autism also known as autism spectrum disorder (ASD) includes a group of disorders, all characterised by qualitative abnormalities in reciprocal social interactions and communication; and by restricted, stereotyped, repetitive repertoire of interests and activities.

These qualitative abnormalities are a pervasive feature of the individual’s functioning in all situations, although they may vary in degree both between and within individuals.

How is autism identified?

Parents are usually the first to notice unusual behavior in their child. In many cases, their baby seems “different” from birth, being unresponsive to people and toys, or focusing intently on one item for a long period of time. The first signs of autism may also appear in children who have been developing normally. When an affectionate, babbling toddler suddenly becomes silent, withdrawn, violent, or self-abusive, something is wrong. Even so, it might be a while before the family seeks a diagnosis. Well-meaning friends and relatives sometimes help parents ignore the problems with reassurances that “every child is different,” or “she can talk-she just doesn’t want to”, “boys tend to talk late” or “I spoke late”. Unfortunately, this only delays seeking help, resulting in delays in assessment and treatment for the child.

How is autism diagnosed?

After initial identification, assessment by professionals who specialise in autism is necessary. Such specialists include child psychiatrist, child psychologist, developmental pediatrician, or pediatric neurologist. Autism specialists use a variety of methods to identify the disorder. Using a standardised rating scale, the specialist closely observes and evaluates the child in a variety of settings to assess his communication, play and social behavior.

A structured interview is also used to elicit information from parents about the child’s behavior and early development. Reviewing family videotapes, photos, and baby albums may help parents recall when each behavior first occurred and when the child reached certain developmental milestones. The specialists may also test for certain genetic and neurological problems to rule out other conditions that cause similar behaviors and symptoms as autism.

Are there standard guidelines in assessing autism?

In 1992, the American Psychiatric Association released the Diagnostic and Statistical Manual (DSM-IV), which refined the diagnostic criteria for autistic disorder. The World Health Organisation released a similar diagnostic manual in 1993 known as the International Classification of Diseases (ICD-10). Although both the DSM IV and the ICD 10 have clearly spelt out the diagnostic criterion for autism, there are no prescribed assessment tools to establish the diagnosis. Each criterion is very broadly defined, without any specific reference to age or developmental milestone. These diagnostic criterions are only clinical guidelines that are subject to interpreter’s bias. The lack of clear cut guidelines often lead to controversies in the diagnosis of autism. As a result, autism is often mis-diagnosed, mistaken or overlooked for other developmental disorders.

A brief observation in a single setting rarely helps understand the individual’s abilities and behaviours. Multimodal assessments, i.e. inputs from parents or primary caregivers, developmental history, school and play behaviour, are significant contributors towards an accurate diagnosis. The problem of diagnosis is further compounded by frequently occurring co-morbid disorders such as seizures, hearing loss, global delay in development, etc. Thus, it is important to ascertain autism within an array of overlapping dysfunctions.

Are there any specific investigations?

Although it has been over 60 years since Dr Kanner wrote the first paper on ‘Autism’, the etiology of autism continues to remain an enigma. The lack of insight into the causes of autism has made diagnosis difficult and challenging. An accurate diagnosis can only be made by observing the child’s behaviour, communication, social interaction and developmental milestones. There are no objective medical tests for diagnosing autism.

However, it is routine to order various investigations (such as EEG, metabolic screening, CT/MRI scans, BERA, etc) to rule out the possibility of other potential disorders. However, not too much emphasis should be placed on these investigations and their outcome, as they are rarely conclusive; besides money and precious time is lost in the process.

Very often in some practices in India, there is an emphasis on IQ tests during the assessment process. While children with autism might have intellectual impairment, it is not a diagnostic determinant. Further, it is also argued that standardised intelligence tests cannot be applied to autistic children; because they simply are not equipped to realistically assess the child’s intellectual ability. Children with autism are immersed in their own world, with sensory problems, often even refusing to respond. Usually no response is considered a failure in the task. Most intelligence tests are timed and scores depend on the response rate, whereas children with autism usually take their own time to respond, leading to lower scores.

Standard intelligence tests do not reveal any valuable information about the child that either contributes to the diagnosis or intervention. It is worthwhile to conduct functional or neuro-cognitive assessments to understand the child’s abilities and accordingly plan the intervention. While there is no one test that can detect autism, several screening instruments have been developed that are now used in diagnosing autism. (Childhood Autism Rating Scale (CARS), Checklist for Autism in Toddlers (CHAT), Autism Screening Questionnaire, etc).

How early can autism be diagnosed?

Much to the dismay of many parents, rarely are children with autism diagnosed before three years of age, and some much later. Behaviour scientists are trying to bring down the age of first diagnosis to 18 months or younger. Early diagnosis is critical as research indicates that earlier the diagnosis, better is the prognosis.

In view of the latest findings on microglial activation and ongoing inflammatory damage in the brain; developmental researchers suggest that there are critical periods of child development after which several areas such as language, vision and motor skills become less malleable. And they argue that the same applies to skills such as social behaviours and intellectual abilities (skills often affected in children with autism). Thus, if researchers know how to diagnose autism in children at birth or a little after, they may be able to plan interventions that would reduce the impact of the disorder.

Nevertheless, no matter when the child is diagnosed, it’s never too late to begin intervention.

What are the developments in early identification?

The DSM IV does not prescribe age specific norms or guidelines on the onset of the disorder. Purely based on the DSM OR ICD, autism is difficult to diagnose in infants or in early childhood, because several of the diagnostic criterions (for e.g, children’s relationships with peers) listed in don’t fully develop until later in childhood. According to the DSM-IV, children with autism have difficulty interacting with others; and have a tendency to have narrowly focused and odd interests. While most researchers admit that these traits define autism, they also argue that these diagnostic criterions are not oriented to diagnose autism in children younger than age 2 or 3.

However, recent developments in research have indicated that autism although manifesting itself around 18 moths of age, can be identified much earlier. Autistic infants are different from birth.

Some of the characteristics they may exhibit include:

• Arching their back away from their caregiver to avoid physical contact
  
• Failing to anticipate being picked up

As infants, they are either passive or overly agitated babies. A passive baby refers to one who is quiet most of the time making little or no demands from his/her parents. An overly agitated baby refers to an infant who cries a great deal, sometimes non-stop, during his/her waking hours.

During infancy, many begin to rock and/or bang their head against the crib; but this is not always the case.

Some autistic toddlers reach developmental milestones, such as talking, crawling, and walking, much ahead of time; whereas others are considerably delayed.

The National Institute of Child Health and Human Development (NICHD) have also listed five red flags of autism. This can be achieved through ‘developmental screening’ of infants and during a visit to the paediatrician.

• Does not babble or coo by 12 months n Does not gesture (point, wave, grasp) by 12 months n Does not say single words by 16 months n Does not say two-word phrases on his or her own by 24 months n Has any loss of any language or social skill at any age.

A word of caution

Having any of these signs in itself is not indicative of autism, but warrants further follow up and formal evaluation by a multi-disciplinary team including a neurologist, developmental paediatrician, child psychologist, speech and language pathologist and occupational therapist. In the United States all infants with developmental deviations are closely observed and monitored with appropriate intervention until they are able to reach a definitive diagnosis on the development of the child. This ensures that no child is left out in the system and enables early intervention (where necessary) which is very crucial for prognosis.

This also raises the need to create awareness among the medical community (particularly paediatricians) who have the potential to identify autism early. It has been reported that very often parents who have raised concerns about their child’s development and who were later diagnosed as suffering from autism, were reassured by their doctors that all is well and their fear is unfounded. The is a need to not only educate them but also sensitise them so that they can alter their practice to be more oriented towards screening every child for developmental deviations. Although this runs the risk of raising false alarms, it is better than a child with a deviation going unnoticed.

How can families learn to cope?

When parents learn that their child is autistic, they realise that they have a child who may not live up to their dreams and will daily challenge their patience.

Most wish they could magically make the problem go away.

Some families deny the problem or fantasise about an instant cure. They may take the child from one specialist to another, hoping for a different diagnosis.

However, it is important for the family to eventually overcome their pain and deal with the problem, while still cherishing hopes for their child’s future.

Today, more than ever before, people with autism can be helped. A combination of early intervention, special education, family support, and in some cases, medication, is helping increasing numbers of children with autism to live normal lives.

Is Autism hereditary? Are there any particular risk factors?

Several studies of twins suggest that autism or at least a higher likelihood of some brain dysfunction can be inherited. For example, identical twins are far more likely than fraternal twins to have autism. Unlike fraternal twins, which develop from two separate eggs, identical twins develop from a single egg and have the same genetic makeup. It appears that parents who have one child with autism are at slightly increased risk for having more than one child with autism. This also suggests a genetic link. However, autism does not appear to be due to one particular gene.

However, not all children who are diagnosed with autism show symptoms from early on. About one-half of autistic children appear to develop normally in their infancy (18 to 24 months) and do not exhibit symptoms until their early childhood (24 months to 6 years). These individuals are often referred to as having ‘regressive’ autism (or atypical autism). Here again it is unsure, whether the disorder is present at birth and does not manifest itself until much later, or if the disorder itself was acquired later. Only research can best answer this question. The identification of biological or genetic markers for autism that can accurately diagnose autism at birth would bolster the currently available and limited behavioral measures.

Does research offer hope?

Autism is a very complex disorder; and the individual manifestation of the disorder varies greatly. Adding to this complexity is the ambiguous diagnostic criterion often leading to controversies. However, years of research efforts both traditional and contemporary have contributed to our understanding and treatment of autistic individuals. There is increasing optimism that autism may be treatable and that many interventions exist that can make a significant difference.

Like humans, other primates, such as chimpanzees, apes, and monkeys, have emotions, form attachments, and develop higher-level thought processes. Animal studies have proven invaluable in learning how disruptions to the developing brain affect behaviour, sensory perceptions, mental development and have led to a better understanding of autism.

Extensive research programs sponsored by NIMH USA all over the world may translate into better lives for people with autism. As we get closer to understanding the brain, we approach a day when we may be able to diagnose very young children and provide effective treatment earlier during the child’s development. As data accumulate on the brain chemicals involved in autism, we get closer to developing medications that reduce or reverse imbalances.

At present, if we unite our knowledge and efforts to identify children early, we have training and therapeutic methods which can at least make them self supportive individuals. Someday, we may even have the ability to prevent the disorder. Perhaps researchers will learn to identify children at risk for autism at birth, allowing doctors and other health care professionals to provide preventive therapy before symptoms ever develop. Or, as scientists learn more about the genetic transmission of autism, they may be able to replace any defective genes before the infant is even born.

Dr Karthikeyen is an ENT Surgeon and Jeyaram is a clinical psychologist at DOAST Integrated Therapy Center for Autism, Chennai