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What is Autism?

Autism is a life-long developmental disorder and the most prevalent of a subset of disorders known collectively as autism spectrum disorders (ASD) or pervasive development disorders (PDD). Autism is characterized by impaired social interaction and communication, and by restricted and repetitive behavior. The diagnosis of autism usually occurs when a child is 2 to 3 years old; children either exhibit developmental delays from birth, or after a period of seemingly normal growth suffer a “regression” and lose social or language skills they had previously gained.

Autism is linked to abnormal biology and chemistry in the brain that affects the development and functioning of crucial parts of the brain, including the amygdala, hippocampus, and cerebellum.1 The neurochemical communication is altered, creating any number of social, language, physical and emotional abnormalities that are identified as symptoms of autism. Current and future research is working to accurately explain these abnormalities.

 

One area of interest with very strong implications is the role of certain antigenic peptides in symptom development and even onset of the disorder. Fragments of gluten and casein proteins (found in wheat and milk, respectively) have been shown pass through the gastrointestinal barrier into the blood stream, where they travel to the brain. Here, they can interfere with brain function by acting upon opioid receptors, mimicking the hormone β-endorphin and causing behavioral symptoms as seen in autistic children. Research is continuing to grow in this area and attempting to determine whether this is a symptom or a cause of autism.

No single cause has been identified for Autism. Given the complexity of the disease, the range of autistic disorders and the variety of symptoms expressed differently from person to person, it is likely that there are a number of causes. Research suggests these may include:

  • Genetic factors – multiple genes have been shown to be involved in autism. Some genes may increase susceptibility to autism while others may affect brain development. Some genetic problems seem to be inherited, and risk of having autism seems to increase if an immediate family member has an ASD.
  • Environmental factors – thought to be in combination with genetic factors; examples include viral infection and air pollutants.

Childhood vaccinations, particularly the measles-mumps-rubella (MMR) vaccine, have been a large topic of controversy since symptoms of the regressive form of autism appear around the time the vaccine is given. Studies have not shown this fact to be true, however, and avoiding vaccinations can place children in danger of catching serious diseases.

 

A number of children with autism have concurrent gastrointestinal (GI) ailments and evidence of inflammation in the gut. Food intolerance has been noted particularly for wheat and cow’s milk, with research showing particular pathophysiologic effects of gluten and casein on the brain in these children.  While there is no evidence that specifies these proteins as causes of the GI inflammation, research continues to investigate their role as a possible cause for improper brain development in affected children.6-8

 

Autism can affect children of all races and nationalities, but certain factors can increase a child’s risk. These include:

  • Gender – boys are more likely to have autism than girls
  • Family history – risk increases for having more than one child with autism
  • Other disorders – higher than normal risk can be associated with fragile X syndrome, tuberous sclerosis, Tourette syndrome and epilepsy.

No two children have the exact same symptoms or severity. Symptoms generally involve four central areas of development, including, but not limited to:

Social interaction

  • Does not make friends; prefers to spend time alone
  • Does not play interactive games; shows little pretend or imaginative play
  • May not respond to eye contact or smiles, or may avoid eye contact
  • Shows a lack of empathy

Communication

  • Cannot start or maintain conversation
  • Develops language slowly or not at all
  • Repeats words or memorized passages; uses nonsense rhyming
  • Does not point to direct attention to things, does not adjust gaze to see what others are looking at
  • Communicates using gestures instead of words

Sensory responses

  • Has heightened or low senses of sight, hearing, touch, smell or taste
  • May withdrawal form physical contact (over-stimulating or overwhelming)
  • Rubs surfaces, mouths or licks objects
  • Have heightened or low response to pain

Behaviors:

  • Has a short attention span
  • Has very narrow interests
  • Uses repetitive body movements; moves constantly
  • Develops specific routines or rituals
  • Has intense tantrums

While most children are slow to gain new knowledge or skills, some have normal to high intelligence. These individuals maintain social and communication problems, yet tend to excel in a specific area such as math, art, or music. These children are often called “autistic savants”.

Autism remains a difficult disorder for children and their families, but with increasing knowledge of the disorder the outlook is getting much better. Social and emotional constraints may form for family members, caregivers, as well as the person with autism. Also, some people with autism will develop seizures. While outlook does depend on severity of the autism, many of the symptoms of autism can be improved with the right therapy.

No cure exists for autism and there is no specific treatment plan that will work for each child. Treatment for autism is most successful when it is started early, is intensive, and appropriate to the individual child’s needs. There are a variety of therapies available, including:

  • Behavior and communication therapy – Programs focusing on social, language, and behavioral difficulties found in autism; focuses on skills development, reducing problem behaviors, and functioning well with the disorder
  • Educational therapy – highly structured education programs with emphasis on behavioral and communication skills
  • Creative therapy – supplemental classes for sensory integration, art or music therapy
  • Medications – no medication can improve the main signs of autism, but some are prescribed for severe symptoms (including anti-depressants and anti-seizure medications)
  • Chelation therapy – said to remove mercury and other heavy metals from the blood (can cause kidney failure)
  • Special diets – several diet strategies have been implemented with autism, including:
    • Restriction of food allergens
    • Probiotics
    • Yeast-free diet
    • Gluten-free, casein-free diet
    • Supplementation of vitamin A, C, B-6, B-12, magnesium, folic acid, and omega-3 fatty acids
 
References:
1. Cook EH. Brief Report: Pathophysiology of Autism: Neurochemistry. J Autism Developm Disorders. 1996; 26(2): 221-5. Hemmins WA. The entry into the brain of large molecules derived from dietary protein. Proc Roy Soc London Ser B. 1978; 200:175-192.
2. White JF. Intestinal Pathophysiology in Autism. Exp Biol Med. 2003; 228:639-49.
3. Baily A, LeCouter A, Gottesman I, Bolton P, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 1995; 25:63-77.
4. Taylor B, Miller E, Farrington CP, et al. Autism and measles mumps rubella vaccine: no epidemiological evidence for causal association. Lancet 1999; 353: 2026-9.
5. Horvath K, Papadimitriou JC, Rabsztyn A, et al. Gastrointestinal abnormalities in children with autistic disorder. J Pediat. 1999; 135:559-563.
6. Black C, Kaye JA, Jick H. Relation of childhood gastrointestinal disorders to autism: nested case-control study using data from the UK. General Practice Research Database. Br Med J. 2002; 325:419-21.
7. Reichelt KL, Knivsberg AM, Lind G, Nodland M. Probable etiology and possible treatment of childhood autism. Brain Dysfunct. 1991; 4:308-19.
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