AUTISM SPECTRUM DISORDER FACT SHEET

CONTENTS:

1. Autistic Spectrum Symptoms
2. Autism is not a Rare Disorder
3. Economic Burden of Autism
4. Age of Onset
5. Behavioral Subgroups of Autism Spectrum Disorder

What other Bio-medical Fields Tell us about Autism

• Neuroanatomy
• Genetic Factors Related to Autistic Spectrum
• Neurochemical Findings
• Immunology of Autism
• Pharmacology with Autism

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 un-relatedness 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 will affect 1 in every 500 new births.  If the full range of autism spectrum disorders is included, rates may be more than 22 per 10,000.
• Autism is more prevalent than Downs 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.  This 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: Older than 3 years: typical for Asperger's Syndrome and Landau-Kleffner Syndrome

BEHAVIORAL SUBGROUPS OF AUTISM SPECTRUM DISORDER

Autism, Asperger's Syndrome, Landau-Kleffner Syndrome, Rhett 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:

• Baseline EEG
• 24 Hour EEG

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:

• Emotion
• 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 up to 50% higher than in families with no previous incidence of autism
• 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

IMMUNE SYSTEM

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

Microglia have a variety of protective functions:

• 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

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, 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)

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