Times of India
2 April 2010
By Dr Shiv Gautam

Understanding autism for a better society
Boys are four times more likely to be diagnosed with autism than girls, india has 2 million cases
The disorder is not rare. Most autistic people in India have not been diagnosed and do not receive the services they require. This problem occurs in several countries.

What is Autism?
Autism is a lifelong brain disorder that is normally diagnosed in early childhood. People with autism have difficulties communicating, forming relationships with others and find it hard to make sense of the world around them. Autism is a spectrum disorder varying in severity and differ in impact from individual to individual, ranging from those with no speech and severe learning disabilities to people with IQs in the average range who are able to hold down a job or start a family.

People with autism may also have unusual patterns of language development, narrow interests and engage in repetitive and sometimes challenging behaviours. Asperger’s Syndrome is a form of autism in which speech development and IQ are normal, but in which social disability can be compounded by depression and mental health problems. Some people with autism demonstrate significantly challenging behaviours; most need specialist support and care.

First identified more than 50 years ago, autism affects half a million people in the UK — tens of millions worldwide — and is one of the most common developmental disorders. Boys are four times more likely to be diagnosed with autism than girls. Autism affects people of all racial, ethnic and socio-economic backgrounds.

Prevalence of Autism
Recent estimates have placed the prevalence of autism in the US at approximately 1 in 150 people. At India’s current population, this means there are more than two million autistic persons in the country. Of course, this estimate assumes that there are no significant variations in this rate worldwide, which is a question that has not yet been addressed by epidemiologists outside the West.

While the disorder is not rare, the majority of autistic people in India has not been diagnosed and do not receive the services they need. This problem occurs in many countries, but is especially true in India where there is a tremendous lack of awareness and misunderstanding about autism among the medical professionals, who may either misdiagnose or under diagnose the condition.

Whereas autism once accounted for 3% of all developmental disabilities, in California it now accounts for 45% of all new developmental disabilities. Other countries report similar increases.

What causes Autism?
Finding the causes of autism is one of the most challenging areas of medical science. No one knows exactly why, but the brain develops differently in people with autism. The absence of a clear understanding about what causes autism makes finding effective therapies very difficult. It is now widely accepted by scientists that a predisposition to autism is inherited with the underlying genetic cause of up to 40% of autism cases identified. It is not clear why a genetic predisposition affects some family members and not others. Improved detection, identification and diagnosis means that we now estimate that 1 in 100 people have an autism spectrum disorder. There are currently no biological tests to confirm the disease. Identification of the condition is at present based solely on observed behaviour. Research is on to establish the part played, if any, by environmental factors either prenatally or after a child is born. Autism is no longer attributed, as it once was, to lack of affection of the mother.

Genetics of Autism
Genetics appear to play an important role in causing some cases of autism. Several studies have shown that when one identical twin has autism, the other often has autism. In contrast, when one fraternal twin has autism, the other is rarely autistic. Studies trying to identify specific genes associated with autism have been inconclusive. Currently, it appears that 20 or more genes may be associated with autism. This is in contrast to other disorders, such as Fragile X or Rett’s syndrome, in which single genes have been identified.

A large number of studies have found that autistic individuals often have compromised immune systems. In fact, autism is sometimes described as an autoimmune system disorder. One working hypothesis of autism is that the child’s immune system is compromised genetically and/or environmentally (for example exposure to chemicals). This may predispose the child to autism. Then, exposure to an (additional) environmental insult may lead to autism (for example the MMR vaccine) or mercury-containing vaccine preservatives (for example thimerosal).

If parents have a child with autism, there is an increased likelihood that their children will also develop autism. Many studies have identified cognitive disabilities, which sometimes go undetected, in siblings of autistic children. Siblings should be evaluated for possible developmental delays and learning disabilities, such as dyslexia.


Possible Environmental causes of Autism
Although genetics plays an important role in autism, environmental factors are also involved. There is no general consensus on what those environmental factors are . Since the word “autism” is only a label for people who have a certain set of symptoms, there are likely to be a number of factors that could cause those symptoms. Some of the suspected environmental causes for which there is limited scientific evidence include:

Childhood vaccinations: The increasing number of vaccines given to young children might compromise their immune system. Many parents report their child was normal until vaccinations.

MMR Vaccine: Evidence of measles virus has been detected in the gut, spinal fluid and blood. Also, the incidence of autism began rising significantly when the MMR was introduced in the US (1978) and in the U K (1988). Thimerosal (a mercury-based pre-servative) in childhood vaccines. The number of vaccines given to children has risen over the last two decades, and most of those vaccines contained thimerosal, which is 50% mercury. The symptoms of mercury poisoning in children are very similar to the symptoms of autism.

Excessive use of oral antibiotics: Can cause gut problems, such as yeast/bacterial overgrowth, and prevents mercury excretion. Maternal exposure to mercury (e.g., consumption of seafood high in mercury, mercury dental fillings, thimerosal in RhoGam shots).

Lack of essential minerals: Zinc, magnesium, iodine, lithium, and potassium may be especially important.

Co-occurring conditions
Mental Retardation: Although it has been estimated that up to 75% of people with autism have mental retardation, research studies have frequently used inappropriate IQ tests, such as verbal tests with nonverbal children and, in some cases, estimating the child’s intelligence level without any objective evidence. Parents should request non-verbal intelligence tests that do not require language skills, such as the Test for Nonverbal Intelligence (TONI). Furthermore, regardless of the result, realise that autistic children will develop more skills as they grow older, and that appropriate therapies and education can help them reach their true potential.

Seizures: It is estimated that 25% of autistic individuals also de-velop seizures, some in early childhood and others as they go through puberty (changes in hormone levels may trigger seizures). These seizures can range from mild (e.g., gazing into space for a few seconds) to severe, grand mal seizures. Many autistic individuals have subclinical seizures which are not easily noticeable but can significantly affect mental function.

Chronic Constipation and/or Diarrhoea: An analysis of the ARI’s autism database of thousands of cases show over 50% of autistic children has chronic constipation and/or diarrhoea. Diarrhoea may actually be due to constipation — i.e., only liquid is able to leak past a constipated stool mass in the intestine. Manual probing often fails to find an impaction. An endoscopy may be the only way to check for this problem. Consultation with a pediatric gastroenterologist is required.

Sleep Problems: Many autistic individuals have sleep problems. Night waking may be due to reflux of stomach acid into the esophagus. Placing bricks under the head of the bed may help keep stomach acid from rising and provide better sleep. Melatonin has been very useful in helping many autistic individuals fall asleep. Other popular interventions include using 5-HTP and implementing a behaviour modification program designed to induce sleep. Vigorous exercise will help a child sleep, and other sleep aids are a weighted blanket or tight fitting mummy-type sleeping bag.

Pica (Mud eating): Approximately 30% of children with autism have moderate to severe pica. Pica refers to eating non-food items such as paint, sand, dirt, paper, etc. Pica can expose the child to heavy metal poisoning, especially if there is lead in the paint or in the soil.

Low Muscle Tone: A study conducted by the first author found that 30% of autistic children have moderate to severe loss of muscle tone, and this can limit their gross and fine motor skills. That study found that these children tend to have low potassium levels. Increased consumption of fruit may be helpful.

Sensory Sensitivities: Many autistic children have unusual sensitivities to sounds, sights, touch, taste, and smells. High-pitched intermittent sounds, such as fire alarms or school bells, may be painful to autistic children. Scratchy fabrics may also be intolerable, and some children have visual sensitivities. They are troubled by the flickering of fluorescent lights. If the child often has tantrums in large supermarkets, it is possible that he/she has se-vere sensory oversensitivity. Sensory sensitivities are highly variable in autism, from mild to severe. In some children, the sensitivities are mostly auditory, and in others, mostly visual. It is likely that many individuals who remain non-verbal have both auditory and visual processing problems, and sensory input may be scrambled. Even though a pure tone hearing test may imply normal hearing, the child may have difficulty hearing auditory details and hard consonant sounds.


Treatment of Autism
Includes Psychiatric medications, Educational/Behavioral ap-proaches, Sensory integration, Speech therapy, Occupational therapy, Physical therapy, Auditory interventions, Computer software, Vision training & Irlen lenses, and Relationship development intervention(RDI)

State Services
State Services for Developmental Disabilities Typical state services for people with autism include respite, habilitation, speech therapy, and occupational therapy. In order to qualify for services, children or adults must be diagnosed with autism (not PDD or Asperger’s which do not qualify) by a licensed psychia-trist or psychologist with training in childhood development. Furthermore, the applicant must meet three of seven functional limitations: Self-care, receptive and expressive language, learning, mobility, self-direction, capacity for independent living and economic self-sufficiency.

School Programmes
For children younger than three years old, there are early intervention programs. For children over three years of age, there are pre-school and school programmes available. Parents should contact their local school district for information on their local programmes. In some cases a separate program for special-needs children may be best, but for higher-functioning children integration into a regular school setting may be more appropriate, provided that there is enough support (a part or full-time aide, or other accommodations as needed). It is important that parents work with their child’s teacher on an Individual Education Plan (IEP), which outlines in great detail the child’s educational program. Additionally, meeting with the child’s classmates and/or their parents can be helpful in encouraging other students to in-teract positively with the autistic child.

In some states, home therapy programmes (such as ABA and speech therapy) may be funded by the school district, rather than through the state. However, it may take considerable effort to convince the school district to provide those services.

Early signs of ASD

• No pointing by one year of age
• No baby talk by one year; No single words by 16 months; no two-word phrases by 24 months
• Any loss of language skills at any time
• No pretend playing
• Little interest in making friends
• Extremely short attention span
• No response when called by name

The writer is superintendent, Psychiatric Centre, SMS Medical College