AUTISM
Dr. Suchit Tamboli*
Chiranjiv Clinic, Ahmednagar.*
  1. Autism is lifelong disabilityprimarily affecting person's communication and social abilities.
  2. Autistics have been described as being in their own world
  3. History : First described by Leo kanner as 'infantile autism'. Asperger in 1944 used term 'psychopathy'.
  4. Incidence: 3.3 to 16 per 10,000 (2nd to blindness in disabilities) but underdiagnosed till today in India.
  5. Definition: [WHO 1994, American Psychiatric Association (1994)] Autism is classified as a 'pervasive developmental disorder' PDD for children with onset of distortions of multiple psychological functions involving social behavior and language. As deficits are not fully pervasive, many clinicians refer term 'Autistic spectrum disorder'.
  6. Causes of Autism: No specific cause has been exactly found till today:
    • Genetic - Sibling risk for autism 2% - Risk to relatives 0.1%.
    • Pregnancy/Birth complications - Autistic children may have increased history of birth complications
    • Blood serotonin is elevated in 30% of autistic persons. But increased serotonin are not specific to autism.
    • Brainstem hypothesis - etiology is related to compromise brain stem and diencephalic structures.
    • Infective (congenital rubella) Metabolic (PKU) genetic/developmental (tuberous sclerosis, Rett syndrome) Toxic (Fetal alcohol syndrome) or infantile spasms.
  7. Diagnostic Criteria:: Conditions included in autistic spectrum disorder as per DSM IV are
    • Autistic disorder
    • Asperger's disorder
    • Childhood disintegrative disorder
    • Rett's syndrome
    • Pervasive Developmental Disorder (PDD) not otherwise specified

Diagnostic criterion of autism (DSM IV Criterion) (Diagnostic and Statistical Manual of Mental Disorder 4th ed. American Psychiatric Association 1994).
A. A total of six (or more) items from (1), (2) and (3) with at least two from (1) and one each from (2) and (3).
  1. Qualitative impairment in social interaction we manifested by at least two of the following:

    1. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye
    2. gaze, facial expression, body postures and gestures to regulate social interaction.
    3. Failure to develop peer relationships appropriate to developmental level.
    4. A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest).
    5. Lack of social or emotional reciprocity.

  2. Qualitative impairment in communication as manifested by at least one of the following:
    Delay in, or total lack of the development of spoken language (not accompanied by an attempt to compensate) through alternative modes of communication such as gesture or mime)

    In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others Stereotyped and repetitive use of language or idiosyncratic language.

    Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

  3. Restricted repetitive and stereotyped patterns of behavior, interests and activities as manifested by at least one of the following:

    1. Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
    2. Apparently inflexible adherence to specific, nonfiction routines or rituals
    3. Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting or complex whole body movements).
    4. Persistent preoccupation with parts of objects.

B. Delay or abnormal functioning in at least one of the following areas with onset prior to age 3 years.
C. The disturbance is not better accounted for by Rett's disorder or childhood disintegrative disorder.
Diagnosis of autism done by following ways:
DSM IV, HISTORY, ASSESSMENT BY:
a) Screening CHAT (CHecklist for Autism in Toddlers)
  1. During the appointment has the child made eye contact with you?
  2. Get the child's attention, then point across the room at on interesting object and say Oh look there is (name of toy) watch the child face does the child look across to see what you are pointing at:
  3. Get the child's attention, then give child a miniature toy cup and teapot and say can you make a cup of tea (substitute toy picture and glass and say, Can you pour a glass of juice) Does the child pretend to pour out tea (juice) drink it, etc? ]
Sat to the child Where is the light or show me the light Does the child point with his/her index finger at the light can the child build a tower of bricks) blacks) (if so how many?) no. of bricks
  • Autism behavior checklist (ABC) Screening test-cut off 70-75
  • Childhood autism rating scale (ARS)
  • Autism diagnostic interview (ADI) 3 hrs gold standard
  • Autism diagnostic observation scale (ADOS) 3 hrs

Differential Diagnosis:
  • Mental Retardation: Deficits are global in autism while patchy in MR.
  • Schizophrenia
  • Language disorders
  • ADHD
  • Seizure disorder with behavioral problems Co morbidity
  • Medical disorders: Seizure disorder, tuberous sclerosis, herpes encephalitis, measles encephalitis, fragile syndrome
  • Psychiatric disorders: Depression, anxiety disorders, disruptive behaviors disorders such as ADHD, Tics etc.

Diet Advised
Rice, Dal, Pappaya, Chikku, Guava "Gluten free and Casein free diet"

Diet not to be given
Wheat, Jowar, Bajara Maize, Chocolates, Sweets, Sugar, Jaggary, No Apple, Banana and other fruits. No feed with preservatives like Wafers, Sauce, Kurkure, etc.

Treatment Strategy
Unlike other neurodevelopmental disorder (e.g., ADHD), no agreed pharmacological strategy.

Distressing symptoms in ASD
  • 65% of subjects with ASD have co-morbidity (ADHD) depression, OCD, GAD, TS)
  • Stereotyped mannerism 70%, Morbid/unusual preoccupation - 65%
  • Stereotyped utterances - 65%, Compulsions or rituals - 50%
  • Poor attention and concentration 65%, Anxiety or fears - 50%
  • Hyperactivity - 40%, Tics - 8%
  • Obsessive phenomena - 37%, Self-injury - 30%
  • Depression/irritability/agitation - 27%.

Types of Pharmacological Approaches
  • Disorder-specific approach - ADHD, depression, Asperger's syndrome, Tourette's syndrome
  • Symptom-based approach - Hyperactivity, inattention, obsession and rituals, aggression, self-injurious behavior.
Symptom-based Approach
  • Symptoms that are likely to respond to medication - hyperactivity, inattention, obsessions, tics, psychosis, impulsivity, labile mood
  • Symptoms that need behavioral modification as well - aggression, rituals, self-injury,depression
  • Symptoms that require specific remediation - deficits in academic, social or sports domain.
Drug Actions used to Improve Symptoms
Symptom Nor adrenaline Dopamine Serotonin
Obsession - - ++++
Depression ++ - +++
Depression ++ - +++
Hyperactivity ++ + +
Inattention ++ +++ -
Impulsivity + - ++
Aggression - - +
Stereotypes - - +

Haloperidol in ASD
  1. Most widely studied drug in ASD
  2. Shown to reduce anger, hyperactivity, speech problems
  3. Main drawback is tardive dyskinesia - 40/118 children developed drug-related dyskinesia
    - more in those with pre/peri natal complications, large cumulative dose, girls
Treatment
  • Establish goals for educational/vocational training
  • Establish target symptoms for intervention
  • Prioritize target symptoms and/co-morbid conditions
  • Monitor multiple domains of functioning (including behavioral adjustment, adaptive skills, academic skills, social/communicative skills, social interaction with family and peers)
  • Monitor medication for efficacy and side-effects, as appropriate
Conclusion
  • Longterm, multi-disciplinary, multi-agency treatment necessary
  • Suspect presence of co-morbidity if sudden change of behavior occurs
  • Medication - can help improve some disabling symptoms of autism, but is not a cure - Anti-psychotics are not the treatment of choice in chronic aggression - Initiate mediation - as a 6-8 week trial, with clear behavioral targets to decide efficacy - in very small doses, as behavioral activation and other side effects are more common - Re-assess at regular intervals whether the subject requires to remain on medication.
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