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AUTISM SPECTRUM DISORDER
Contents:
AUTISTIC SPECTRUM SYMPTOMS
- Delays in both understanding (receptive) and use (expressive) of Language
- Unusual responses to sensory stimuli
- Resistance to change and insistence on routines
- Difficulties with typical social interactions
TRADITIONAL SYMPTOMS
- Social and emotional unrelatedness
- Intolerance to change-rigidity
- Stereotyped behavior-routines, rituals, attachment to objects
- Absence or delay of language or communications skills
- Lack of eye contact
EMERGING SYMPTOMS
- Impaired small motor skills, including dysphasia and apraxia
- Impaired motor planning
- Auditory processing disturbance
- Fluctuating sensory dysregulation both hypo and hyper, including: Hearing, Taste,
Smell, Touch, Sense of Balance, Sense of Position in space, etc.
- Gastrointestinal dysfunction-diarrhea, gas, etc.
- Eating Disorder - Severe dietary self-limitation, chewing, swallowing problems
- Food and/or environmental hypersensitivity - allergies, behavioral reaction to foods
and dietary and environmental chemicals
- Hyperactivity
- Hypotonia-low muscle tone, soft ears, double jointed, upper body weakness
- Sleep disorders
AUTISM IS NOT A RARE DISORDER
According to the National Institutes of Health (NIH):
- Autism is the most common of the Pervasive Developmental Disorders,
affecting an estimated 1 in 166 births (Autism ALARM,
First Signs, Inc.
2003)
AutismAlarm.pdf This means that as many as 1.5 million Americans today
are believed to have some form of autism.
- If the full range of autism spectrum disorders is included, Autism and PDD
occur in approximately 5 to 15 per 10,000 births. These disorders are four
times more common in boys than girls.
- Autism is more prevalent than Down Syndrome, Childhood Cancer, Cystic Fibrosis
or Multiple Sclerosis
- Autism is now considered to be the third most common developmental disorder.
ECONOMIC BURDEN OF AUTISM
- Total estimated cost of autism in USA = 13.3 Billion dollars per year
- Translates to expenditures of approximately 36.5 Million dollars per day
- Yet, up until 1999 the total annual research dollars granted by NIH and NIMH for
autism research was approximately $25 Million
AGE OF ONSET
Early onset:
- symptoms appear 12 TO 18 Months
- Progressive onset: normal development to 18-24 Months-with change and
development of symptoms appearing at this time
Late onset:
typical for Asperger's Syndrome and Landau-Kleffner Syndrome
BEHAVIORAL SUBGROUPS OF AUTISM SPECTRUM DISORDER
- Autism
- Asperger's Disorder
- Landau-Kleffner Syndrome
- Rett Syndrome
- Disintegrative Disorder
- PDD-NOS
- MSD-Multi-Systems Disorder (under age 3)
IMPORTANT STEPS TO TAKE IN INITIAL SCREENING FOR AUTISTIC SPECTRUM
- Examine for early onset of symptoms
- Watch for history of regression
- Create a team approach between the parents and the professionals involved with
the child
- Provide parents with training and education as to what steps need to be taken
Behavioral Pediatrician, Pediatric Neurologist or Pediatrician needs to set up referrals for:
- Psychological evaluation
- Vision evaluation
- Audiological Evaluation-Auditory Evoked Potential assessment done if needed
- Speech and Language Evaluation
- Occupational Therapy/Sensory Integration Evaluation
- Physical Therapy Evaluation if needed
Pediatrician needs to set up referrals for:
- Complete Blood Work
- Complete Metabolic Work Up
- Chromosome Study-To rule out Fragile X
A referral to Pediatric Neurologist for:
The Diagnostic and Screening Team then needs to set up follow up meetings after all
evaluations have been completed
WHAT OTHER BIO-MEDICAL FIELDS TELL US ABOUT AUTISM:
1. NEUROANATOMY:
Central Nervous System Mechanisms involved in Autism are:
- Medial temporal lobe which impacts:
- Emotions
- Motivation
- Memory
- Learning
- Sensory Association Cortex
- Hippocampus
- Amygdala
- Limbic System
- Septum
- Cerebellum which impacts:
- Role in modulation of emotions
- Role in higher cortical functions
- Cell reduction:
- Purkinje cells
- Olivary neurons
HYPOTHESIS: In normal human fetus a circuit sends information to the brain for the
Purkinje cells to connect with the Olivary neurons. In child with autism this circuit
connection cannot be made.
2. GENETIC FACTORS RELATED TO AUTISTIC SPECTRUM
- 4:1 Ratio of males to females who have this disorder
- There is no clear X Gene Link
- Pattern of inheritance has emerged as demonstrated in Twin Studies
- If identical there is a high probability of Autism (91-93%)
- If non-identical probability drops
- Studies of Families shows that the rate in other siblings is
- There is a need to rule out FRAGILE X Syndrome which masks itself like the
Autistic Spectrum
- There is evidence of a Chromosome 15 abnormality - with an extra piece on the
chromosome 15
- There is evidence that there is altered serotonin metabolism with children with
Autistic Spectrum
3. NEUROCHEMICAL FINDINGS
SEROTONIN:
- More than 25% Autistic children and adolescents are hyperserontonemic
- A mechanism for this has not been determined
- A familial association has been demonstrated for this
OPIATE ACTIVITY:
- Elevated Endorphin levels have been found
GROWTH HORMONE
- a delayed response in -Dopa has been found
4. IMMUNOLOGY OF AUTISM
B R A I N
U
T
I
IMMUNE SYSTEM
M
- 30 - 70% of children with Autism have shown abnormalities in their lymphocytic
functions
- Certain infections can lead to autism:
- Congenital Rubella
- Cytomegalovirus (CMV)
- Herpes Encephalitis
- Influenza Meningitis
- Increased frequency of infections such as Otitis Media or an immunization reaction
may trigger the onset of the autistic symptoms during early development
- In genetically susceptible individuals, common infections may lead to an unusual
cascade of immune responses in the brain during critical periods of development
- Microglia (The Brain's immune cells or macrophage)
- are important in normal brain development
- are normally quiet cells that reside in the brain and turn over slowly
- enter the brain from the bone marrow
- respond quickly to:
- Head Trauma
- Various Stresses
- Infections
- Have a variety of protective functions
Microglia:
- Interacts with glutamate Excitor-Neurotransmitter which governs the plasticity of
brain's learning and memory.
- Source of Beta Micro Globulin Complex with Antigens located in Chromosome 15
- Critical time in fetal development-assault, activating microglia, can cause
differences
5. PHARMACOLOGY WITH AUTISM
PRINCIPAL: Medication should be prescribed only to render child more educable: ONLY
- Target the symptoms which interfere with learning and rule out seizures:
- Obsessive compulsive SSRI - PROZAC
- Anxiety SSRI - PROZAC
- Inattention DEXADRINE
- Aggressiveness
If towards others CLONIDINE If towards self SSRI - PROZAC
Sleep disturbance CLONIDINE or KLONPIN
Seizures TEGRITOL
EEG Abnormality DEPAKOTE, LAMOTRIGINE, LAMETOL
Rules for prescribing of medications:
- Start slow
- Increase dosage slowly
- Chose target symptoms
- Do not deviate
- Work closely with primary observers (parents and teachers)
Lastly be sure that regular blood workups are done to monitor toxicity of
medications
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