• Characterized by difficulties with social interaction, problems with verbal and non-verbal communication, and repetitive behaviors or narrow, obsessive interests that usually become apparent before a child is three years old.
• Males are four times more likely than females to have an autism spectrum disorder.
• Autism spectrum disorders (ASDs) have three primary forms:
Pervasive developmental disorder, not otherwise specified (PDD-NOS)
The use of the word spectrum signifies the broad range of autistic-type disorders, including severe autism, high-functioning autism, mild Asperger syndrome, and minor PDD-NOS. Asperger syndrome differs from autism in that it does not involve delays in mental development and language. PDD-NOS is the term used when not all the criteria for autism or Asperger syndrome are met. There have been proposals to eliminate all of these classifications of ASD as separate disorders and simply merge them under a single ASD diagnosis; physicians would then rate the severity of clinical presentation of ASD as severe, moderate, or mild.
Parents of infants with ASD often notice early on that their child is unresponsive to people or focuses intently on one item for long periods of time. In many cases the child appears to be developing normally but then suddenly becomes silent, withdrawn, self-abusive, or indifferent to social overtures.
The appearance of any of the warning signs of ASD is reason to have a child evaluated by a professional specializing in these disorders. Diagnosis is now possible in many cases at 18 months and in some cases as early as 12 months. Early intervention greatly improves outcomes. Early behavioral or cognitive intervention can help autistic children gain self-care, social, and communication skills. For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives.
The number of reported cases of autism increased dramatically in the 1990s and early 2000s. With the new diagnostic practices and classifications, the rate of ASD in the United States is now estimated at 9 cases per 1,000 compared with 1 to 2 per 1,000 worldwide.
Early and Later Signs of ASD
• No babbling or pointing by age 1
• No single words by 16 months or two-word phrases by age 2
• No response to name
• Loss of language or social skills
• Poor eye contact
• Excessive lining up of toys or objects
• No smiling or social responsiveness
• Impaired ability to make friends with peers
• Impaired ability to initiate or sustain a conversation with others
• Absence or impairment of imaginative and social play
• Repetitive or unusual use of language
• Restricted patterns of interest that are abnormal in intensity or focus
• Preoccupation with certain objects or subjects
• Inflexible adherence to specific routines or rituals
The cause of autism is extremely controversial. It does have a strong genetic component, but as with most health conditions, dietary and environmental factors play a huge role in whether and how the genetic predisposition is manifested. Perhaps more important than a specific genetic marker are the factors that determine how genes are expressed, such as environmental and nutritional factors. Although controversies surround the various proposed environmental causes, such as heavy metals, pesticides, or childhood vaccines, there is little doubt that genetic factors on their own are insufficient to lead to autism.
Children with ASD require a combination of specialized and supportive educational programming, communication training (such as speech/language therapy), social skills support, and behavioral intervention. In general, the earlier these interventions are initiated the better the prognosis. Fortunately, the resources available to support children with ASD and their parents have grown considerably as the prevalence has increased.
The Individuals with Disabilities Education Act (IDEA) is a federally mandated program that ensures a free and appropriate public education for children with diagnosed learning deficits. Usually children are placed in public schools and the school district pays for all necessary services. These include, as needed, services by a speech therapist, occupational therapist, school psychologist, social worker, school nurse, or aide. By law, the public schools must prepare and carry out a set of instruction goals, or specific skills, for every child in a special education program. The list of skills is known as the child’s Individualized Education Program (IEP). The IEP is an agreement between the school and the family on the child’s goals.
Common dietary approaches to ADHD (see the chapter “Attention-Deficit/Hyperactivity Disorder”) are also appropriate to ASD, as they aim to enhance brain function. Such dietary recommendations are not a cure, but some children experience significant improvements when food allergies are identified and food additives eliminated. Specifically, sensitivity to gluten and milk (casein protein in particular) seems to be a significant factor in some children with ASD.1,2 Results of a gluten- and casein-free diet are entirely individualized but sometimes can be dramatic. In one study, 19 children with ASD were treated with either a gluten-free and milk-reduced diet or a milk-free and gluten-reduced diet.3 After the diet was followed for one year, social contact had increased, self-mutilating behaviors such as head banging had ceased, and “dreamy state” periods had decreased. These improvements were accompanied by a significant decrease in urinary peptide excretion. The possible mechanism is that children with autism suffer from one or more peptidase defects that fail to break down certain peptides found in milk and wheat.4,5These peptides then gain entry into the brain, where they significantly disrupt brain chemistry. At the very least, a trial of a gluten- and casein-free diet for at least three months seems to be worth the effort.
The presence of other food allergies may also contribute to some of the symptoms of ASD. In fact, determining food allergies may be very important in dealing with the increased intestinal permeability noted in these patients.5For more information, see the chapter “Food Allergy.”
Omega-3 Fatty Acids
Omega-3 fatty acids (such as in fish oils providing EPA + DHA) are thought to be an important nutritional supplement in ASD.6 Despite the potential benefit, there are only a few, very small clinical studies evaluating omega-3 fatty acids in ASD. In the first double-blind study, 13 children ages 5 to 17 with ASD accompanied by severe tantrums, aggression, or self-injurious behavior were given 1.5 g EPA + DHA a day for six weeks.7 Children taking the EPA + DHA showed improvements in hyperactivity and repetitive or ritualistic movement compared with children taking a placebo. In another controlled trial, 27 children ages 3 to 8 with ASD were given 1.3 g EPA + DHA a day for 12 weeks.8 The children showed improvements primarily in hyperactivity. Results may be more significant in younger children than in adults: an open-label study of young adults failed to show the same positive results as the studies of children.9
Vitamin B6 and Magnesium
Abnormalities in serotonin and other neurotransmitters have been reported in ASD. To address these issues, vitamin B6 supplementation in autistic children has been investigated in several double-blind clinical studies.10–13 The results indicate that there is a small subgroup that improves with B6 supplementation. On the average, only about 20% of patients will show moderate improvement in symptom scores, while about 10% will demonstrate dramatic clinical improvement. It has also been observed that B6 supplementation had a greater effect when used in combination with magnesium.11–13
In a 1985 study of 60 autistic children, the children were divided into two groups and given various combinations of vitamin B6, magnesium, and a placebo. Therapeutic effects were measured using behavioral rating scales and urinary excretion of homovanillic acid (HVA). The combination of B6 and magnesium resulted in significant improvement in behavior that was closely associated with decreases in HVA. However, magnesium and vitamin B6 were not significantly effective when used alone.13 More recent studies have shown the same synergistic effect between B6 and magnesium.14
Folic Acid, Vitamin B12, and Vitamin C
The abnormalities in serotonin and other neurotransmitters reported in ASD may be due to a decrease in activity of the enzyme tryptophan hydroxylase. This enzyme is dependent on a molecule known as tetrahydrobiopterin (BH4) that has been shown to be low in people with ASD. Since the mid-1980s, several clinical trials have suggested that treatment with BH4 improves ASD in some individuals. Children with ASD who had low BH4 metabolites in the cerebrospinal fluid or urine were treated with a daily dose of 20 mg/kg BH4. The majority of children (63%) responded positively to treatment. Further research is under way, but it is believed that BH4 therapy will gain wider use if these studies show similar results.15 Unfortunately, BH4 is not readily available, but folic acid, vitamin B12, and vitamin C supplementation may improve the brain’s ability to manufacture its own BH4.
Sleep disturbances are very common in ASD. Clinical studies have demonstrated abnormalities in the production of melatonin or its release in individuals with ASD. Several clinical studies have also shown that melatonin produces significant benefit in improving sleep quality in ASD at dosages ranging from 0.75 mg to 6 mg prior to bedtime. In fact, several meta-analyses of existing data have concluded that melatonin administration in ASD is associated with improved sleep, better daytime behavior, and minimal side effects.16,17 The studies reviewed included three double-blind studies. All three of these studies showed a significantly shorter time to fall asleep and longer sleep duration with melatonin (2–5 mg dosage) compared with a placebo.18–20
In an open trial, 86% of parents of autistic children reported that melatonin produced either complete elimination or significant improvement of sleep disturbance. Of the 107 children treated with melatonin, only three had mild side effects (morning sleepiness).21
L-carnosine is a small protein that was demonstrated in one double-blind placebo-controlled trial involving 31 children with autism to improve expressive and receptive vocabulary; there was also subjective improvement on an autism rating scale over an eight-week trial at a dosage of 800 mg per day.22
• Although there is a strong genetic component to ASD, there is little doubt that diet and environmental factors play a role in the expression of a genetic tendency.
• Children with ASD require a combination of specialized and supportive educational programming, communication training (such as speech/language therapy), social skills support, and behavioral intervention.
• Sensitivity to gluten and milk seems to be a significant factor in some children with ASD.
• Omega-3 fatty acid supplementation has been showed to reduce hyperactivity and repetitive or ritualistic movement.
• There is a small subgroup of ASD patients who respond to magnesium and vitamin B6 supplementation.
• Several clinical trials have suggested that treatment with tetrahydrobiopterin (BH4) improves ASD in some individuals.
• Melatonin produces significant benefit in improving sleep quality in ASD.
• At this time there is no credible evidence that secretin is effective for treatment of ASD.
Secretin is a gastrointestinal hormone that has been extensively studied in autism. It came to light as a potential treatment after a television show highlighted a report of three children showing improvement in symptoms of autism after administration of secretin during endoscopy to examine pancreatic secretions.23 Since then, more than a dozen well-designed studies have failed to demonstrate efficacy of secretin for symptoms of autism.24,25 At this time there is no credible evidence that single or multiple dose intravenous secretin is effective for treatment of ASD.
ASD requires a comprehensive approach to help facilitate the best possible outcomes. Every aspect of supporting a child with ASD should be maximized including appropriate social, speech, nutritional, and medical care. In particular, it is critical to try to address the underlying issues associated with ASD as described above.
Eliminate those dietary factors that play a role in aggravating brain dysfunction including gluten and casein sensitivity, food allergies, nutrient deficiency, and low omega-3 fatty acid levels. Otherwise, follow the general recommendations given in the chapter “A Health-Promoting Diet.”
• A high-potency multiple vitamin and mineral formula as described in the chapter “Supplementary Measures”
• Key individual nutrients:
Vitamin B6: 25 mg two to three times per day
Folic acid: 400 to 800 mcg per day
Vitamin B12: 400 to 800 mcg per day
Vitamin D3: 1,000 to 2,000 IU per day
Magnesium: 250 to 400 mg per day
• Fish oils: 1,500 to 3,000 mg EPA + DHA per day
• L-carnosine: 800 mg per day
• One of the following:
Grape seed extract (>95% procyanidolic oligomers): 150 to 300 mg per day
Pine bark extract (>95% procyanidolic oligomers): 150 to 300 mg per day
Ginkgo biloba extract (24% ginkgo flavonglycosides): 120 to 320 mg per day
• Also consider the following (see the chapter “Attention-Deficit/Hyperactivity Disorder”):
L-theanine: 100 to 200 mg up to three times per day
Melatonin: 1 to 3 mg at bedtime
Carnosine: 800 mg per day