What is Autistic Spectrum Disorder (ASD)?

The term Autism Spectrum Disorders (ASD) refers to a group of neurodevelopmental disorder characterized by impairment in three main areas:

• Social interaction,
• Verbal and non-verbal communication or language, and
• Stereotyped restricted or repetitive pattern of behavior, interests and activities.

Most of the time ASD is under-diagnosed or missed, due to lack of awareness about its clinical presentation and acceptance by the parents. Usually they are labeled as speech delay and asked to wait till 3 years of age. Mean age of diagnosing autism is 2-4 yrs. But with awareness and early screening we can diagnose as early as 1 ½ to 2 yrs with red flag signs, so that early intervention and treatment changes the outcome in a significant manner.

The recent increase in identification and incidence of these disorders, the emotional impact they have in families and the challenging financial demands associated with their treatment and support currently make Autism an important public health issue. With the treatments now available for ASD they can achieve a far better quality of life. However, autism is currently incurable and most people with ASD are not receiving specialized treatment or any treatment at all.

Eugen Bleuler coined the term autism and Hans Asperger described the symptoms of autism in 1938.Globally, autism has affected an estimate of 24.8 million people as of 2015. The prevalence of the disease is 4-6 per 1000 and is constantly increasing. It affects all racial, ethnic and socioeconomic groups, although it is found five times more common among boys than girls.

Cause and Risk factors for Autism:

Autism occurs due to a combination of genetic and environmental factors, though exact etiology is unknown. Autism affects information processing in the brain by altering connections and organization of nerve cells and their synapses. Genetics play a major role—about 20% of children with ASD also have certain genetic conditions. Some of the conditions include Down syndrome, fragile X syndrome, and tuberous sclerosis among others. Other risk factors are having a sibling with ASD, having older parents (mother or father > 35 -40 yrs), parental history of psychiatric disorders.

Classification:

Under ASD, Autism is one of the five types of pervasive developmental disorders (PDD) of childhood. Out of five PDD forms, Asperger syndrome (high functioning Autism) is milder form and closest to autism. Rett syndrome and Childhood Disintegrative Disorder are several forms of autism. PDD are not otherwise specified (PDD-NOS), also called atypical autism,which is diagnosed when the criteria are not met for the above.

How Do they Present?

The child develops normally till 1- 1 ½ years, then for no reason slowly regresses in speech and poor eye to eye contact with decreased socialization and communication language. It is usually associated with hyperactivity, stubbornness and behavioral issues. Autism is diagnosed not by a single symptom, but by a characteristic triad of symptoms that become apparent in early childhood, typically before age three:

1. Social Interaction:

Autistic infants show less attention to social stimuli, smile and poor response to name with decreased eye to eye contact. They are into their own world and less social interaction and with family members and other kids.

2. Communication:

Expressive and communication language is grossly affected. They speak random words with poor sentence formation. Children with autism are less likely to make requests or share experiences, and are more likely to simply repeat others words (echolalia) or reverse pronouns.

3. Repetitive Behaviour:

• Stereotyped behaviors: They make repetitive movements, such as hand flapping, head rolling, or body rocking.
• Compulsive behaviors: Time-consuming behaviors intended to reduce anxiety such as placing objects in a specific order, checking things, or hand washing.
• Sameness: Children with autism are resistant to change. For example, insisting that the furniture not be moved or refusing to be interrupted.
• Ritualistic behavior and Restricted interests: Interests or fixations that are abnormal in theme or intensity of focus, such as preoccupation with a single television program, toy, or game.
• Self-injury: Behaviors such as eye-poking, skin-picking, hand-biting and head-banging.

Red Flags for AUTISM:

• Speech delay or speech regression. (No babbling by 12 months, No single words by 16 months, no two-word (spontaneous, not just echolalic phrases by 24 months).
• Repetitive use of language and/or motor mannerisms (e.g., hand-flapping, twirling objects)
• Little or no eye to eye contact, poor response to name
• Lack of interest in peer relationships
• Lack of spontaneous play and doesn’t show body parts when asked
• Persistent fixation on parts of objects
• No gesturing (pointing, waving, etc.) by 12 months.
• Any loss of any acquired language or social skills, at any age.

Nearly half of the parents of children with ASD notice their child’s unusual behaviors by age 18 months, and about four-fifths notice only by age 24 months.

Screening Instruments:

Several diagnostic instruments are available. The Modified Checklist for Autism in Toddlers (M-CHAT) and The Childhood Autism Rating Scale (CARS) are used widely to diagnose ASD.

Management

Early identification, assessment and diagnosis are the first step. Early intervention improves prognosis in a significant proportion of children with ASD. The main goals when treating autism are to lessen associated deficits and family distress, and to increase quality of life and functional independence.

Multi-disciplinary approach, which includes Pediatric Neurologist, child psychologist, early intervention therapist, speech therapist and occupational therapist, must comprehensively treat the child. As of now few medications like high dose of vitamins, omega fatty acids, L- carnosine have been tried. Also co-morbidities like epilepsy, hyperactive, behavioral issues, irritability, sleeping disorders are treated with medications.

Available approaches to treat children with autism include applied behavior analysis (ABA), developmental models, structured teaching, speech and language therapy, social skills therapy, and occupational therapy.

Prognosis:

Autism is a life-long disability. It is under-diagnosed and requires awareness and education for early detection and intervention for better outcome. Overall, it can be said that the vast majority of children with ASD will continue to show deviance and difficulties in social interactions throughout their lives. Acquiring language before age six, having an IQ above 50, and having a marketable skill all predict better outcomes. People diagnosed with severe autism will be less likely to be able to live independently.

Prognosis should be discussed with the family to avoid unrealistic expectations. It is essential to put in all efforts for early intervention and fostering family involvement and knowledge, as well as community participation.