Autism and Asperger's Syndrome
Autism Spectrum Disorder (ASD) is the name given to describe the wide range of behaviours amongst the Autistic population. Autistic children are less able to interact with the world as other children do. Typically they have deficits in three key areas:
- Verbal and non-verbal Communication.
- Social awareness and interactions.
- Imaginative play (variable interests and behaviours).
There are separate labels for different points on the Autism spectrum. At the least affected end, you may find labels such as "Asperger's Syndrome", "High Functioning Autism" and "Pervasive Developmental Disorder - Not Otherwise Specified". At the other end of the spectrum you may find labels such as "Autism", "Classic Autism" and "Kanner Autism".
Autism, Asperger's and Autism Spectrum Disorder: Diagnosis, Assessment and Treatment
We believe that a diagnosis of AUTISM should be the starting point, prompting health professionals to investigate further and initiate assessment and treatment of the possible underlying causes. Unfortunately all too often parents are told that "Autism" is not treatable, leaving the possible root causes uninvestigated and untreated.
At the clinic we treat Autism based on a combination of the research and treatment protocols of DAN, Pfeiffer, Wakefield and Shattock. We have added other components to these protocols based on recent Australian research. This research was presented at the 2005 Autism Victoria conference by Dr. Henry Butt and Dr. Jacques Duff from this clinic.
Investigation and treatment of Biological, nutritional and Metabolic factors have led to improvement of symptoms or complete resolution of symptoms in a multitude of cases worldwide. Autism is treatable and recovery possible (at least in some children).
- Characteristic behaviours in Autism Spectrum Disorder
- Criteria for diagnosis of Autism (DSM-IV)
- Associated problems
- Autism: Hypotheses
- Testing the Hypotheses
- Treating Autism (The recovery)
- Monitoring progress
- Developing language and new skills
The following descriptions give a guide to many of the behaviours observed in children, teenagers and adults with an Autism Spectrum Disorder. It is important to remember that everyone is different and very few children or adults will show all of these characteristics.
The three lists below based on an article "What Is Autism?" written by Dr. Di Boswell and Ms. Helen Baker, is reproduced from the Autism Victoria web site and shows a typical progression from childhood into adulthood.
The preschool autistic child is handicapped in learning and interacting with the world on account of a combination of a number of possible biological and metabolic dysfunctions affecting brain function, discussed in a later section entitled: Autism: a hypothesis. Consequently he falls behind in higher order functions, such as development of language, reasoning, cognitive skills, socialisation, creativity, range of options in situations, imagination and decoding the multitude of symbolic representations that we take for granted as human beings. In addition, his physical ailments discussed in associated symptoms and ailments frustrate and irritate him. Together, the impaired higher order functions and physical ailments result in the behaviours that we label as Autistic.
- Food problems. The child can be resistant to solid foods or may not accept a variety of foods in their diet.
- Unusual responses to other people. A child may show no desire to be cuddled, have a strong preference for familiar people and may appear to treat people as objects rather than a source of comfort.
- The child tends not to look directly at other people in a social way. This is sometimes referred to as a lack of eye contact.
- There may be constant crying or there may be an unusual absence of crying.
- The child often has marked repetitive movements, such as hand-shaking or flapping, prolonged rocking or spinning of objects.
- Many children develop an obsessive interest in certain toys or objects whilst ignoring other things.
- The child may have extreme resistance to change in routines and/or their environment.
- The child may appear to avoid social situations, preferring to be alone.
- There is limited development of play activities, particularly imaginative play.
- The child may have sleeping problems.
- There may be an absence of speech, or unusual speech patterns such as repeating words and phrases (echolalia), failure to use 'I', 'me', and 'you', or reversal of these pronouns.
- There are often difficulties with toilet training.
- The child generally does not point to or share observations or experiences with others.
- The child may be extremely distressed by certain noises and/or busy public places such as shopping centres.
- There is no evidence of disability in the child's physical appearance - many children with an Autism Spectrum Disorder are very attractive in appearance.
The following is the list of criteria from the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). Parents are urged to seek professional advise and not to self-diagnose the disorder in their children. It requires considerable experience and training to become competent at making a diagnosis. Please call the clinic for advice.
|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, as manifested by at least two of the following:
|(2) qualitative impairments in communication as manifested by at least one of the following:|
|(3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:|
|B. Delays 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 Disorder or Childhood Disintegrative Disorder|
While the DSM-IV provides a comprehensive list of symptoms of ASD, every parent with an Autistic child knows that there are associated symptoms not listed above. The following are much more frequently seen in the Autistic children than in non-Autistic children :
- Bothered by touch and physical contact,
- Hypersensitive to stimuli. e.g. noise, light, touch, smells
- Fussy eater, eating a restricted range of foods
- Bothered by the texture of foods, preferring smoother texture-free foods
- Will smell objects and food
- Easily put off by slightly different smells and tastes in their favourite food
- easily frustrated and frequent tantrums that have no apparent reason
- bags or dark circles under the eyes
- dry skin, eczema
- white spots on fingernails
- Tics, obsessiveness and compulsive repetitive behaviours
- frequent colds, flu, ear, nose and throat infections and other ailments suggestive of impaired immunity.
- Gut problems characterised by loose stools or constipation, bloating, excessive wind, lower abdominal discomfort, tenderness or pain.
- poor muscle tone
- failure to thrive
- echolalia (repeating words or phrases)
- Pica (eating non-foods, e.g. paper or dirt)
We believe that autism may be caused when a child with a genetic susceptibility is exposed to one or more of a number of environmental insults resulting in a series of dysfunctional interactions between Genes and Nutrients (Nutrigenomic interactions). These can happen "in utero" (during pregnancy) or post-natally.
Eventually these dysfunctional interactions can affect body systems, most obviously the gastrointestinal, endocrine, immune system and the central nervous system. The complexity of the thousands if not millions of possible interactions may well defy description. We can however, build a basic biomedical model of autism, based on the published scientific evidence to-date.
The model that we developed and continuously refine the process of human development: Genes and nutrients interact to enable a single cell to multiply and differentiate to form multiple cell systems and organs, each with their own specific functions. It is the continuous interaction between the genetic code and nutrients that grows a human being in the womb and early years; and maintains optimum health and function throughout the lifespan. The following is an outline of some of the most common mechanisms implicated in the aetiology of Autism Spectrum Disorder:
- The Genetic code may have flaws. While there is a genetic component to Autism, genetics alone cannot explain the recent rise in Autism in industrialised nations.
- The cell membrane that protects each cell is less than optimum, leaving it vulnerable. There is much support in animal and human studies that a reduced intake in Omega 3 fatty acids results in impaired cell membranes and Neurodevelopmental disorders.
- Antigens (foreign toxic matter, heavy metals, viruses and bacteria) attack vulnerable cells and damage them, resulting in cells that cannot carry out their function normally.
- Antigens can damage or change the genetic code in the cell, and when the cell reproduces itself it does so with the changed code leading to dysfunction in future cells.
- There is emerging evidence that a dysfunctional methylation system may result in abnormal genetic expression leading to dysfunctional cells. Vit. B12, folate, B6 and Magnesium play a central role in regulating Methylation.
- Abnormal methylation can damage metallothionein protein which regulate zinc/copper ratios and other metals in cell membranes.
- Impaired cellular structures can result in multi-systemic disorders, affecting gastrointestinal, Immune, endocrine and central nervous system.
- The delicate balance between beneficial and detrimental bacteria in the gut can be upset by antibiotics, food preservatives and other environmental toxic additives, leading to a condition known as intestinal dysbiosis.
- Opportunistic bacteria in the gastrointestinal tract may irritate a vulnerable gut wall resulting in irritable bowel syndrome, leaky gut and food sensitivities.
- Some bacteria can produce amines. When these bacteria are overgrown, they can produce large amounts of amines. Amines are known to have receptors in the same areas in the brain as neurotransmitter receptors. This can result in a scrambling of brain signals by amines.
(Am. J. Hum. Genet., 77:851-868, November 2005)
This model goes part of the way towards explaining why there is such diversity in Autistic behaviours. It also explains why some interventions work for some children and not others, highlighting the need for conducting Biomedical testing as a basis for formulating hypotheses and initiating treatment.
We can't do anything about the genetic code, but we might be able to normalise some of the nutrient interactions and as a result normalise the cellular structure and function of cells that make up body systems, including: gut, endocrine, immune, gastrointestinal and brain. When we succeed, we see improvements in general health, gut function.
To test the hypothesis a number of blood tests, urine analysis hair mineral analysis and an Extended Faecal Microbiology Investigation is carried out. The test results highlight the dysfunctional systems that need to be addressed and prompt us to initiate treatment
- Remove environmental antigens that upset the gut and trigger autoimmune reactions.
- Chelate heavy metals, preferably with chelating nutrients. Chelating nutrients have no side effects, but work slower than chelating drugs (which unfortunately also chelate nutritional metals).
- Restore the ecology of the gut by normalising the bacteria imbalance.
- Introduce Behavioural intervention (ABA) to help the child learn functional communication and promote adaptive living skills.
- Provide specific nutrients to repair and optimise cellular structures and function.
- Investigate whether there are PANDAS symptoms and treat appropriately.
- When the child has recovered sufficiently conduct QEEG to determine brain function.
- Prescribe exercises that promote cerebellar/motor cortex communication and optimisation.
- Initiate Neurotherapy to redress abnormal brain patterns.
- Initiate reading and speech therapy.
Research over the last 20 years has suggested a relationship between maternal diet and the birth of an affected infant, and recent evidence has confirmed that folic acid, a water soluble vitamin, found in many fruits (particularly oranges, berries and bananas), leafy green vegetables, cereals and legumes, may prevent the majority of neural tube defects.
- Women who have one infant with a neural tube defect have a significantly increased risk of recurrence (40-50 per thousand compared with 2 per thousand for all births).
- A randomised controlled trial conducted by the Medical Research Council of the United Kingdom demonstrated a 72% reduction in risk of recurrence by periconceptional (i.e. before and after conception) folic acid supplementation (0.4mg daily).
- Other epidemiological research, including work done in Australia, suggests that primary occurrences of neural tube defects may also be prevented by folic acid either as a supplement or in the diet.
- This has been confirmed in a randomised controlled trial from Hungary, which found that a multivitamin supplement containing 800mcg folic acid was effective in reducing the occurrence of neural tube defects in first births.
Extract from NHMRC Publication
Whilst 800 mcg of folic acid may help prevent neural tube defects and Down Syndrome in Northern Europe where the Ultra violet (UV) radiation is low. In Australia, and other high UV countries this may not be adequate to protect against Neurodevelopmental disorders. There is evidence to suggest that white skinned people are more prone to folic acid being destroyed in subcutaneous tissues by UV. That's one reason why indigenous people in high UV regions of the world are dark skinned, as the melanin pigment effectively filters UV and affords protection against folic acid being destroyed.
Normal brain development and function depend on the active transport of folate across the blood-brain barrier. A study reported on the clinical and metabolic findings among five children with normal Neurodevelopmental progress during the first four to six months followed by the acquisition of marked irritability, decelerating head growth, psychomotor retardation, cerebellar ataxia, dyskinesias, pyramidal signs in the lower limbs and occasional seizures. After the age of six years the two oldest patients also manifested a central visual disorder. Known disorders had been ruled out by extensive investigations. Despite normal folate levels in serum and red blood cells with normal homocysteine, analysis of Cerebro Spinal Fluid suggested disturbed transport of folate across the blood-brain barrier.
Oral treatment with folinic acid resulted in clinical improvements.
Little, J., Epidemiology of Neurodevelopmental disorders in children. Prostaglandins Leukot Essent Fatty Acids, 2000. 63(1-2): p. 11-20.
This study and others like it supports our contention that normal methylation (involving Vit B12 and Folate) is vitally important for the prevention and treatment of Neurodevelopmental disorders including Autism.
Monitoring is carried out through review consultations, ongoing reassessment of progress and progressive implementation of Biomedical, Nutritional, ABA, Speech therapy and Neurotherapy.
Autistic children can have varying degrees of language impairment. The clinic provides state of the art remote WEB or clinic based language and maths learning programs specifically designed for children with difficulties. See our web pages on Learning difficulties, Central Auditory Processing Disorder and Visual processing difficulties