functional medicine and nutritional genomics - American Association ...
functional medicine and nutritional genomics - American Association ...
functional medicine and nutritional genomics - American Association ...
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AAPI’S NUTRITION GUIDE TO OPTIMAL HEALTH: USING PRINCIPLES OF FUNCTIONAL MEDICINE AND NUTRITIONAL GENOMICS<br />
physical examination, assessment of the child’s<br />
communication skill <strong>and</strong> cognitive development, <strong>and</strong><br />
st<strong>and</strong>ardized parental interviews.(4)<br />
Diagnosis of ASD is based on clinical findings<br />
with a focus on developmental delay or regression<br />
of social interaction, social communication, or<br />
behavior before the age of 3.<br />
Childhood Disintegrative Disorder (CDD) <strong>and</strong> Rett<br />
disorder must be excluded. Several diagnostic tools<br />
exist, such as the Child Autism Rating Scale, but<br />
none are specifically recommended or<br />
st<strong>and</strong>ardized.(5) The gold st<strong>and</strong>ard for diagnosis<br />
is considered to be the Autism Diagnostic<br />
Observation Schedule-Generic, but it requires<br />
expertise to administer.(6)<br />
Beside ruling out CDD <strong>and</strong> Rett disorder, the<br />
differential diagnosis of ASD includes<br />
developmental disorder <strong>and</strong> delay, hearing<br />
impairment, reactive attachment disorder, OCD,<br />
anxiety, <strong>and</strong> language-based learning disability.<br />
Consideration for metabolic <strong>and</strong> genetic testing is<br />
warranted based on clinical suspicions.<br />
Current theories regarding the pathophysiology of<br />
ASD revolve around the concept of brain injury,<br />
inflammation, <strong>and</strong> oxidative stress. This injury may<br />
result from a number of pathways, such as<br />
mitochondrial dysfunction, cerebral hypoperfusion,<br />
auto-antibodies toward brain tissue, gut<br />
inflammation, autoimmunity, <strong>and</strong> impaired<br />
detoxification systems.(7) Reviewing the different<br />
theories regarding the pathophysiology of autism<br />
will allow us to underst<strong>and</strong> the potential<br />
mechanism of action of HBO therapy for this<br />
disorder.<br />
Cerebral hypo-perfusion in autistic patients was<br />
first identified by advanced brainscanning in the<br />
late 1980s <strong>and</strong> early 1990s. (8,9) Two studies<br />
revealed bilateral hypoperfusion localized to the<br />
temporal lobes. A recent review of these studies<br />
points out that this particular sulcal area of the<br />
temporal lobes connects the frontal lobes, the<br />
limbic system, <strong>and</strong> auditory areas.(10) Hypoperfusion<br />
was confirmed by an Indian study which<br />
showed bilateral frontal <strong>and</strong> temporal lobe<br />
144<br />
involvement.(11) Dysfunction of the temporal lobe<br />
brain region suggests a plausible construct to<br />
underst<strong>and</strong>ing the wide variety of behavioral <strong>and</strong><br />
emotional abnormalities displayed by autistic<br />
patients (social, emotional, <strong>and</strong> perceptual<br />
respectively). The cause of cerebral hypoperfusion<br />
has not been explored in the scientific<br />
literature.<br />
CNS inflammation may play a role in the<br />
pathophysiology of autism, <strong>and</strong> inflammatory<br />
markers have been identified in the brains <strong>and</strong><br />
cerebrospinal fluid of autistic patients.<br />
Cerebrospinal fluid from autistic subjects was found<br />
to contain a ‚unique profile‛ of inflammatory<br />
cytokines; furthermore, biopsy specimens from the<br />
cerebral cortex <strong>and</strong> cerebellum revealed an active<br />
inflammatory process.(13) Disruption of the<br />
gastrointestinal <strong>and</strong> brain blood barrier may also<br />
be a mechanism for the promotion of CNS<br />
inflammation <strong>and</strong> therefore ASD. This finding is<br />
supported by the ten-fold increased rate of ASD<br />
in patients who have a rare condition called mast<br />
cell activation syndrome.(14, 15)<br />
Gastrointestinal disturbances are common among<br />
autistic individuals <strong>and</strong> intestinal inflammation has<br />
also been associated with autism. de Magistris et<br />
al. looked at the heritable nature of ‚barrier<br />
function deficit‛ in 90 children <strong>and</strong> 146 of their<br />
relatives.<br />
Lactulose/mannitol testing for intestinal hyperpermeability<br />
was performed <strong>and</strong> found to<br />
be significantly elevated in those with autism<br />
(46.7%) as well as their relatives (21.2%)<br />
versus controls (4.8%). The authors recommend<br />
hyper-permeability testing to identify the subgroup<br />
of autistic patients who may benefit from dietary<br />
changes to reduce the inflammatory response of<br />
the immune system to food products.(16)<br />
Intestinal microflora imbalance may also play a<br />
role in ASD. (17,18)<br />
The role of oxidative stress in ASD has been<br />
explored as well as biological markers<br />
indicating upstream metabolic derangements which<br />
may play a role in the disorder. (19,20) Free<br />
2012