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AAPI’S NUTRITION GUIDE TO OPTIMAL HEALTH: USING PRINCIPLES OF FUNCTIONAL MEDICINE AND NUTRITIONAL GENOMICS physical examination, assessment of the child’s communication skill and cognitive development, and standardized parental interviews.(4) Diagnosis of ASD is based on clinical findings with a focus on developmental delay or regression of social interaction, social communication, or behavior before the age of 3. Childhood Disintegrative Disorder (CDD) and Rett disorder must be excluded. Several diagnostic tools exist, such as the Child Autism Rating Scale, but none are specifically recommended or standardized.(5) The gold standard for diagnosis is considered to be the Autism Diagnostic Observation Schedule-Generic, but it requires expertise to administer.(6) Beside ruling out CDD and Rett disorder, the differential diagnosis of ASD includes developmental disorder and delay, hearing impairment, reactive attachment disorder, OCD, anxiety, and language-based learning disability. Consideration for metabolic and genetic testing is warranted based on clinical suspicions. Current theories regarding the pathophysiology of ASD revolve around the concept of brain injury, inflammation, and oxidative stress. This injury may result from a number of pathways, such as mitochondrial dysfunction, cerebral hypoperfusion, auto-antibodies toward brain tissue, gut inflammation, autoimmunity, and impaired detoxification systems.(7) Reviewing the different theories regarding the pathophysiology of autism will allow us to understand the potential mechanism of action of HBO therapy for this disorder. Cerebral hypo-perfusion in autistic patients was first identified by advanced brainscanning in the late 1980s and early 1990s. (8,9) Two studies revealed bilateral hypoperfusion localized to the temporal lobes. A recent review of these studies points out that this particular sulcal area of the temporal lobes connects the frontal lobes, the limbic system, and auditory areas.(10) Hypoperfusion was confirmed by an Indian study which showed bilateral frontal and temporal lobe 144 involvement.(11) Dysfunction of the temporal lobe brain region suggests a plausible construct to understanding the wide variety of behavioral and emotional abnormalities displayed by autistic patients (social, emotional, and perceptual respectively). The cause of cerebral hypoperfusion has not been explored in the scientific literature. CNS inflammation may play a role in the pathophysiology of autism, and inflammatory markers have been identified in the brains and cerebrospinal fluid of autistic patients. Cerebrospinal fluid from autistic subjects was found to contain a ‚unique profile‛ of inflammatory cytokines; furthermore, biopsy specimens from the cerebral cortex and cerebellum revealed an active inflammatory process.(13) Disruption of the gastrointestinal and brain blood barrier may also be a mechanism for the promotion of CNS inflammation and therefore ASD. This finding is supported by the ten-fold increased rate of ASD in patients who have a rare condition called mast cell activation syndrome.(14, 15) Gastrointestinal disturbances are common among autistic individuals and intestinal inflammation has also been associated with autism. de Magistris et al. looked at the heritable nature of ‚barrier function deficit‛ in 90 children and 146 of their relatives. Lactulose/mannitol testing for intestinal hyperpermeability was performed and found to be significantly elevated in those with autism (46.7%) as well as their relatives (21.2%) versus controls (4.8%). The authors recommend hyper-permeability testing to identify the subgroup of autistic patients who may benefit from dietary changes to reduce the inflammatory response of the immune system to food products.(16) Intestinal microflora imbalance may also play a role in ASD. (17,18) The role of oxidative stress in ASD has been explored as well as biological markers indicating upstream metabolic derangements which may play a role in the disorder. (19,20) Free 2012
AAPI’S NUTRITION GUIDE TO OPTIMAL HEALTH: USING PRINCIPLES OF FUNCTIONAL MEDICINE AND NUTRITIONAL GENOMICS radical formation can lead to oxidative stress. Biomarkers related to the body’s ability to compensate for oxidative stress include carnitine, urinary 8-isoprostane, vitamin D, glutathione, ammonia, lactic acid, transferrin and ceruloplasmin. (21) These biomarkers have been identified as useful in estimating the oxidative burden and guiding the nutrient management of autistic patients. Other biomarkers considered for use in establishing a treatment regimen for patients with ASD include organic acids, intestinal permeability testing, calprotectin levels, stool cultures, methylation and transsulfuration markers. Autistic children in particular may be more vulnerable to oxidative stress in the form of lipid peroxidation and deficient antioxidants.(22,23) Mitochondrial disease (MD) is likely present in a subset of autistic individuals. Mitochondrial dysfunction can lead to multiple metabolic problems. The incidence of genetic MD in the general population is greater than 1:2000. (24) Statistically, if ASD and MD were unrelated, they would uncommonly occur together as 17 million people would be required to find 76 patients with both disorders. However, studies indicate between 4-8% of autistic patients have MD. (25) Furthermore, multiple organ dysfunction is common in patients with MD with the most common systems affected being the brain, skeletal muscle, and the gastrointestinal tract creating a wide variety of seemingly divergent symptoms. (26) Gastrointestinal symptoms are very commonamong ASD patients. One study compared children with ASD to normal controls and those with developmental disability. GI complaints were present in seventy percent of children with ASD versus 28% and 42% in the normal and disability group, respectively. (27) This may only indicate that GI symptoms are more bothersome to ASD patients since other studies have not supported an increased prevalence in ASD.(28) Because every cell in the human body depends on mitochondria, these patients often experience multiple system disorders with the end result involving neuroinflammation and cytokine release. 145 Autism is characterized as a neurodegenerative disease involving decreased cerebral perfusion, inflammation, and oxidative stress and researchers have explored the use of HBO therapy to address ASD.(33) HBOT has been successfully used in the treatment of neuropathy (29), closed head injury (30), stroke (31) and Crohn’s disease (32) all of which involve similar mechanisms of injury. Therefore, it seems reasonable that autistic individuals may benefit from HBO treatment and this has recently been explored. A prospective open-label pilot study performed in 2007 looked at the potential role of HBOT on oxidative stress in ASD. Eighteen children ages 2-16 underwent multiple HBO treatments following two protocols. Assessment included parental symptoms rating and evaluation of C-reactive protein and glutathione levels before and after the completion of treatments. HBOT was found to not worsen oxidative stress and to significantly reduce the CRP values; parental symptoms ratings were favorable.(34) These same authors subsequently performed a multicenter, randomized, double-blind, controlled trial to assess the efficacy of HBOT in autistic children. The study randomized sixty-two children ages 2-7 to 40 one-hour treatments of either HBO therapy or pressurized room air. The study concluded that, compared to children treated with slightly pressurized air, the HBOT group had significant improvements in ‚overall functioning, receptive language, social interaction, eye contact, and sensory/cognitive awareness.‛(35) In a similar study, 16 patients with ASD underwent 40 HBOT treatments to evaluate the effect on behavior. No significant effect was observed among the observed behaviors studied.(36) These authors did not look at the effect of HBOT on inflammatory and oxidative stress markers. Finally, a small Thai study evaluated social, fine and gross motor, language, and self- help domains before and after 10 HBO treatments, reporting that 75% of participants showed 2012
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