Autism is a neurodevelopment disorder of brain structure characterized by impairment of social interaction, communication delays, and speech and language disorder coupled with restrictive and repetitive behavior. Symptoms usually develop early in life and usually are apparent by the age 3 years.

Human brain constitutes nerve cells and its functioning heavily dependent upon the nerve cell synapses, connections and organization. “In Autism there is derangement in these processes”.

There is strong argument about genetic basis of autism but genes involved are complex. There is some evidence from the twin studies about genetic basis but no clear gene markers so far.

In some cases child develops normally for 2 years and then regress. In others still presentation may be gradual deterioration coupled with behavioral problems, aggression, hyperactive in nature and speech and language delays and developmental issues.

Autism prevalence is 1-2 in 1000 children. However Center for disease control reports prevalence of 9 per 1000 children ( boys are affected 3-4 time more often than  girls). ( Partly because of unawareness and difficult to diagnose early and diagnostic variability “ variable criteria for diagnosis” and due to other conditions symptom overlap, like speech and language delays, Aspergers disorders, Pervasive development disorders NOS, Rett’s disorder, Childhood disintegrations disorder, Mental retardation, etc)

Early intervention in the form of behavior and cognitive intervention can make difference and help the children achieve variable functional capacity. Autism is spectrum condition with different degree of involvement, it is important to understand level of impairment and realistic expectations with correct therapeutic interventions.

Study shows autism affected families usually are either on one end of extreme and expecting cure, leading to doctor shopping and may result sometime causing harmful treatment intervention. ( Like unproven food restrictions and malnourishments) etc

On the other end of spectrum families are not ready to accept it as condition and they take it as normal variation in the human behavior and approach toward life. Delay due to this thought process can lead to irrecoverable loss in some cases.

Presentation

In addition to common signs of autism other then Social delay, Speech and language delays and abnormal movements.

Sensory abnormalities are found in 90% ASDs. There is increased Sensitivity to normal stimuli like (Overly sensitive to, touch, noise, light, smell and taste, they may refuse to wear “Itchy” clothes, etc)

They may be more stressed when routine is changed or even can become irritable or aggressive.

60 % to 80 % having abnormal motor signs like poor muscle tone and poor motor planning and toe walking. They may be prone to walk into things and hyper sensitive to loud noises.

They treat human being as an object

More interested in the part of the toy rather than the wholesome

Perseverating

etc

Early Symptoms

• No babbling by age 12 months
• No gesturing (Like finger pointing, waving bye bye) By 12 months.
• No single word by age 16 months.
• No 2 word sentence by age 24 months.
• There may be loss of language or social skills at any age.

Stereotype Behaviors

• Compulsive behavior
• Ritualistic behavior
• Restricted behavior
• Self injurious behavior

“However variability cannot be ruled out easily from other psychiatric diagnosis”

Diagnostic Challenges

Early diagnosis is required to achieve maximum benefit of early intervention and moving in right direction.

At younger age presentation can be very vague due to huge variation in developmental mile stone for different group of children.

As we believe Autism is Spectrum illness, one end of the spectrum children can be very similar to their age matched children with subtle differences hard to discern even in experienced hands, on the other end of the spectrum Children may suffer debilitating disorder in which they cannot communicate, socialize or even take care of bladder bowl control at the age where it is normally expected. They can be making stereotyped movements, clapping, hand swinging, making noises etc. Growing physically but not mentally, put them at huge risk of being danger to self and/or others because of not being able to differentiate between the harmful and harmless activity.

On the part of the Physician factor there can be either the risk of minimizing the illness due to lack of expertise or exaggeration of the illness due to the fact that “ I don’t want to take chances” Either of these approach may not be productive.  Because minimizing the illness can deprive the child of the benefit of available therapeutic resources, while exaggeration can lead to undue stress and agony to the family and family may not be able to cope with stress and eventually leads to further deterioration.  Until things get clear harm may have already been done in terms of families suffering in many different ways.

Treatment:

Approach should be careful and Empathic, families may have been to too many different doctors and every intervention and assessment leave different impact on the mind of parent/guardian and also understanding the condition and management plan formulation.

Following available treatment modalities depending upon the severity of illness and families resources can be used to improve the functioning.

1)    Behavior modification plans.

2)    Applied Behavior Analysis approach

3)    Speech and Language Therapy

4)    Occupational Therapy

5)    Family therapy and coaching to deal with the loss

6)    Treatment for aggressive and dangerous behavior (Therapy and medications) etc.

•  Medications are usually used for following co morbid symptoms.
• Aggression
• Tantrums
• Outbursts
• Anxiety
• Attention problems
• Extreme compulsions that the child cannot stop
• Hyperactivity
• Impulsiveness
• Irritability
• Mood swings
• Sleep difficulty