Introduction
Autism is the most common neurodevelopment disorder among the pervasive developmental disorders (PDD). Psychologists also categorize them as autism spectrum disorders (ASD). Persons with this condition show abnormalities in the neurological and/or psychological development resulting in difficulties communicating and interacting socially. They also have repetitive and stereotyped behavior patterns. Some of these patients have significantly lower IQ’s to the point of mental retardation. Newer research is showing that children with autism have often abnormal gut flora, which can make their symptoms worse (see this Time magazine article)
The Spectrum of Pervasive Developmental Disorders (PDD)
Asperger’s syndrome
Cognitive function and language skills are better than in autism, but people perceive them as eccentric with odd behaviors. They are clumsy, have repetitive behavior patterns and are socially isolated. Hypersensitive to noises, smells or tastes. One-sided interests; have difficulties recognizing jokes.
Autism (autistic disorder)
Onset at age 2 or 3 years; impaired language skills, social interaction, communication skills. Stereotyped, repetitive behaviors; some have mental retardation; some have seizures. This condition requires early diagnosis and an aggressive comprehensive treatment program that focuses on child’s deficiencies and helps to overcome these weaknesses. This may lead to independent living in adulthood in 50% of the cases (in the past the success rate used to be only 10 to 15%).
Childhood disintegrative disorder
Initially there is a normal development until the age of 2 years when suddenly a marked regression in development occurs. At least two of the following four functions are deteriorating: bladder and bowel control; language skills; social interaction; motor skills. It can become so severe that the symptoms are worse than in autism. Some of the behaviors may mimic autism or schizophrenia.
Rett syndrome
Affects mainly girls and is inherited by a mutation in the MECP2 gene on the X chromosome (Xq28 location). Following normal development for 6 months the head growth slows down and severe mental retardation sets in. A severe neurodevelopmental disorder with ataxic gait, seizures, loss of speech, loss of hand control and impaired social interaction ensues.
Frequency of autism
Autism has been estimated to occur with a frequency of 10 to 12 cases in 10,000 live birth.
When all PDD cases are included, the frequency of occurrence is about 20 cases per 10,000 live births (Ref.2) or 1 in 500. This was around 2000. Notably, in 2012 the frequency had increased to 1 in 150. Autism is challenging to diagnose accurately as there is a spectrum of severity with regard to symptom expression. A number of autism testing procedures are available as discussed further below. All in all, a team specializing in autism is best at using these testing procedures in combination. It seems like autism can have a variety of causes in combination accounting for the various degrees of severity of symptoms. In addition there is a genetic component as well.
Cytomegaly virus infection and phenylketonuria
It has been determined that most autism cases are unrelated to diseases of the brain, but certain conditions like rubella or Cytomegaly virus infections during the pregnancy as well as the genetic enzyme defect phenylketonuria have been described to cause autism. Overall there is a strong genetic component for autism as parents who have one child with autism (or PPD) have a 75-fold higher probability of getting another child with the same neurodevelopmental disorder. In essence, this has been further confirmed in twin studies where there is a high probability that a monozygotic twin will also have autism when the other twin has been diagnosed with this condition. Several genetic loci have been located on chromosomes 2, 3, 7, 15, 19 and X. Also, some patients have structural abnormalities in the brain, which lead to a higher risk of seizure disorders in addition to autism.
Autism
Symptoms
By and large, the symptoms of autism usually become apparent in the first year of life, as the child is not reaching some of the developmental milestones in time such as sitting, walking, making eye contact and talking. Typically, by the age of 3 all of the autistic signs and symptoms are present. Overall, the main symptom is that the child has difficulties interacting with key persons such as parents, siblings, friends and peers. The autistic person has a problem forming mutual relationships likely due to an inability of imagining how the other person might be thinking when behaving a certain way or as a reaction to saying something in particular. Usually, one of the hallmark symptoms in a 1 year-old child with autism is that the child is unable to point at an object communicatively.
Poorly coordinated gait or stereotyped motions
Also, poorly coordinated gait or stereotyped motions are also common. Most cases have some degree of mental retardation and interestingly, when the intelligence quotient is less than 50, there is also a 25 to 35% chance of a seizure disorder. Some of the more severe cases (about 25%) experience a regression of previously acquired language skills and social skills between 18 and 24 months. Most noteworthy, patients with autism resist change; they favor familiar objects and engage in rituals. They tend to have a marked difference with regard to intellectual performance as follows. The one part of the intellectual functioning has significant limits, but other areas show outstanding development. To sum up, the 1988 movie “Rain Man” popularized the condition of autism and displayed many of the symptoms mentioned above.
Diagnosis
The clinician diagnoses autism clinically by examining the patient, looking for symptoms and doing a number of tests for autism. Researchers developed these tests specifically to diagnose autism. Some of the medical screening tests are tests to rule out phenylketonuria (PKU) and chromosomal analysis to rule out fragile X syndrome. IQ tests help to determine how severe autism is as the more severe forms have a minimized IQ. When autistic children have seizure disorders the health care provider orders EEG studies. To rule out tuberous sclerosis the physician orders a CT or MRI scan. In terms of psychological tests the Childhood Autism Rating Scale (CARS) is a widely used test (Ref.1). This is a good test for initial screening.
Psychological tests for autism
Autism Diagnostic Interview-Revised (ADI-R) is a comprehensive test that will use lifetime skills and is done in an interview setting (Ref. 4). The physician uses this test from age 18 months to adulthood. It also provides the exact diagnosis according to the DSM-IV manual and the ICD-10 criteria. The Autism Diagnostic Observation Schedule-Generic (ADOS-G) test complements the ADI-R test, but requires comprehensive training to apply. There are several modules for different age groups and for different levels of sophistication. This tests communicative skills, social behaviors and play behavior. Together all of these tests will help to establish the diagnosis and also help to prepare the treatment planning process. At the present there is research in progress to develop a screening blood test for autism: This test involves checking for genetic markers of autism.
Treatment
The following points regarding treatment of autism (ASD) or pervasive developmental disorders (PDD) are noteworthy.
Autism and PPD are lifelong chronic disabilities
To the lay person it may be difficult to see why the patient would be disabled as it is a combination of physical, behavioral and mental signs.
In children treatment should start from the day that the condition is diagnosed
Early intervention has been shown to be very successful. This may make the difference between being able to lead a relatively independent life as an adult versus a case of autism of PDD diagnosed in a delayed fashion. For the toddler and the preschool child treatment consists of focusing on language development, imitation skills, recognition skills, responding in a social manner and learning appropriate behavior.
School aged children need a highly structured supportive teaching environment
The emphasis is on early intervention. The school program tailors the curriculum to the needs of the person. It is intensive and stimulating covering all areas of need that the testing methods identified earlier. The teacher should monitor progress as the program goes on and typically should show improvements in all of the targeted areas. Children will autism need more input than children with less severe PDD or Asperger’s syndrome. Autistic children would need a combination of a classroom program tailored to their needs as well private individualized instructions. The teaching program requires a good structure, consistency and have a lot of repetition of what is taught.
Adolescents and adults need to be taught different social, behavioral and communicative skills
The complex life demands have to be addressed in the curriculum. This can be addressed by social skills groups, groups that engage in recreational activities, vocational coaching and individualized psychotherapy. The purpose is to integrate the affected person as much as possible into society and teach them how to lead a full adult life.
Diet: autistic children are very sensitive to food additives
MSG and many food groups that other children would tolerate. First, I like to say: stop putting garbage into a weakened body. The gluten free/casein free (GFCF) diet is a good start. But in my opinion parents should go one step further and try Elaine Gottschall’s Specific Carbohydrate Diet, which has helped thousands of autistic children get better. Certainly, diet coke and corn chips may be gluten free, but are not healthy. Children need fruits, vegetables, lean/clean protein and healthy fats. In my opinion the whole family and particularly the autistic child need to eat organic foods as the standard North American food is full of toxins, antibiotics, recombinant bovine growth hormone (milk and milk products), pesticide residues to just name a few.
About starchy foods, food supplements and magnesium deficiency
In addition, starchy vegetables are not always tolerated by the autistic child; rice is not always tolerated even though it’s gluten free. It’s very hard work when you have a picky eater, but the results are worth all the efforts. Definitely, avoid food intolerances; keep a diary with respect to food intake, so you can monitor what was tolerated and what should be avoided. Food supplements will be necessary, but this changes from autistic child to autistic child. It depends whether the child has leaky gut syndrome, an abnormal bowel flora etc. One frequent deficiency in autistic children is magnesium deficiency. As magnesium is a key component of hundreds of enzymatic reactions in the body, it is a good practice to supplement with oral magnesium. Here is a good review article about magnesium.
Omega-3-fatty acids
Similarly, children on the spectrum have often low levels of omega-3 fatty acids, but unfortunately many children on the spectrum also do not tolerate omega-3 supplements, so this can be a struggle. Krill oil can be tried, if cod liver oil doesn’t work, otherwise flax seed oil may be beneficial. Molecularly distilled fish oil is the best with the highest anti-inflammatory properties. Other supplements may be required after certain blood tests that the doctor may have ordered. In any event, you want to add anything that is low or missing.
Family support is very important
Hopefully the members of a family with an autistic child will find the most appropriate educational and psychological professionals with experience in autism and/or PDD. Altogether, speech and language therapy are also very important as they are necessary to be able to approach any interventional program effectively. Obviously there are often areas of strength. More development is necessary as peers will respect and value it. Ultimately such an area of strength is also useful in future job training.
Special techniques in treating autism
The ABA program, which is explained in detail here; cognitive and behavioral therapy; speech and language programs; concrete pragmatic approaches with an individualized comprehensive intervention plan; develop communicative skills to the fullest potential; occupational and physical therapy to overcome physical limitations and prevent work accidents; look after the mental well being of the family and the patient alike.
One of the fundamental tests that will often identify a child with autism is the Sally Anne test. This test goes right to the center of the “theory of mind” and this is in fact where the majority of autistic children have problems. Children who have successfully completed the ABA should spend time working on “theory of mind” to teach them perspective taking, so you don’t end up with a mostly recovered child/adult who is socially awkward or insensitive.
Refrain from popularized miracle cures for autism
Many of them are one-sided and there is no proof that they have any benefit on the long term. However, having said this, the DAN physicians who specialize in treatment of autism have found the following. They combine two treatments, hyperbaric oxygen (HBOT) and detoxification with chelation treatments. Together they can clean the body of heavy metals that have the reputation to be detrimental for autistic patients. Some autistic children have been able to outgrow their condition.
Intravenous chelation therapy to remove mercury, lead and cadmium
Part of the detoxification that can be used to detoxify the body from heavy metals like mercury, lead and cadmium is by using a non-drug method such as Glutathione/vitamin C mix through an intravenous (anti-aging physicians or DAN physicians offer this). Patients tolerate this much better than EDTA and DMPS chelation. Clostridium difficile is often present in the gut flora of autistic children. Vancomycin treatment can lead to an amazing turn-around, but it has to continue until the gut flora has normalized. Organic yoghurt may also be very helpful in normalizing the bacterial balance in the gut.
Treatment providers can include a treatment team
A common treatment team consists of a physician, psychologist, social worker and the supportive services mentioned.
Medication
I deliberately mentioned medication towards the end of treatment. The reason is that medication is not a substitute for the other treatment steps. The health care provider uses medications only in conjunction with the above described comprehensive treatment program. Antidepressants (particularly selective serotonin reuptake inhibitors) are useful to help suppress ritualized behaviors and preoccupations, which often accompany autism. Stimulants that are normally a medication for ADHD children have sometimes been successful in autistic children. But critical reviews showed effectiveness only when there was an element of hyperactivity and lack of attention span present. Antipsychotic medication (most research with haloperidol) has been a medication to treat the target symptoms. These consist of hyperactivity, agitation, aggression, stereotypic behaviors, and mood lability. There are significant side-effects with conventional antipsychotics.
Atypical antipsychotic medication an anticonvulsants
Lately the newer atypical antipsychotic medications have been in use as a substitute with some degree of success. Anticonvulsant medications turned out not only useful for treatment of concomitant seizures. They were also found useful in treating aggressive autistic patients and when there are episodes of behavioral outbursts. This is particularly so in those patients who have seizures at the same time.
With respect to abnormal bowel flora, a new vaccine has recently been developed, which targets the abnormal Clostridium bowel bacteria and may help in managing the problem of constipation and diarrhea as well as other symptoms of autism. Nystatin may be essential for a chronic yeast infection, although a strict Specific Carbohydrate Diet as mentioned above may solve this problem without Nystatin.
Prognosis
Autism has a better prognosis when the child has adequate language skills by the age of 5 years and the IQ is 70% or higher. The better the cognitive functions are (language, emotional interaction, memory, reasoning), the better the long-term outcome. Studies have shown that about 15% of autistic children turn into independently functioning adults. Modern more intensive and comprehensive treatment protocols as described above have a higher success rate (perhaps 40 to 60% functionality).
As this topic shows, many single steps are needed in combination, and they have to be individually adapted to the needs of the child. Diligent attention to seemingly insignificant details is extremely important to make a difference for a good outcome.
For more info on autism visit my blog.
References
1. Schopler E, Reichler RJ, Renner BR: The Childhood Autism Rating Scale (CARS), Los Angeles, Western Psychological Services, 1988.
2. Jacobson: Psychiatric Secrets, 2nd ed. Copyright © 2001 Hanley and Belfus Section Seven – DIAGNOSIS AND TREATMENT OF PSYCHIATRIC DISORDERS IN CHILDHOOD AND ADOLESCENCE ; Chapter 55 – AUTISM SPECTRUM DISORDERS
3. The Merck Manual, 18th edition, Merck Research Laboratories, © 2006. Chapter 299: Learning and developmental disorders.
4. Lord C, Rutter M, LeCouteur A: Autism Diagnostic Interview—Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994; 24:659-685.
5. Lord C, Rutter M, Di Lavore PC: Autism Diagnostic Observation Schedule—Generic, Chicago, University of Chicago Department of Psychiatry, 1998.
6. Suzanne Somers: “Breakthrough” Eight Steps to Wellness– Life-altering Secrets from Today’s Cutting-edge Doctors”, Crown Publishers, 2008
