Responses submitted to the IACC 2010 Request for Information
What issues and topics should be added to the introduction?
Crosscutting themes:
(1) The focus of research needs to be the brain, and how all of the many
etiologies of autism result in the distinctive characteristics of developmental
language disorder, deficits of attention, and repetitive stereotyped motor
mannerisms.
(2) Brain systems involved in language development should be identified, not
synapses everywhere.
Prevention:
(1) Invasive obstetric and neonatal interventions must be considered as
causes of the increased prevalence of autism.
(2) Clamping the umbilical cord immediately at birth terminates natural
transition from placental to pulmonary respiration, and may lead to ischemic
injury of auditory nuclei in the brainstem. Clamping the umbilical cord is
dangerous and should be stopped.
(3) Especially following a lapse in respiration at birth, injections of vitamin K
and vaccines may be dangerous. These interventions were never adequately
tested and should be stopped at least on a trial basis.
When should I be concerned?
Concern should begin before pregnancy. Are birth control pills healthy?
Could these or any other pharmaceutical substances (Tylenol, Prozac, Claritin,
etc.) cause the genetic duplication or micro-deletion mutations associated with
some cases of autistic disorder? During pregnancy no chemical substances
should be used. Thalidomide and valproic acid (depakote) are associated with
cases of autism. Autism has also been associated with fetal alcohol
syndrome. Relevant citations to the medical literature can be found in PubMed
and on my website, conradsimon.org.
How can I understand what is happening?
a. What has been learned about the issues covered in this chapter in the past
year?
METABOLOMICS (see PubMed) may be more important than genomic (gene to
behavior) research. Metabolism is not uniform from person to person.
Metabolic variants are probably the norm. How unusual metabolites may affect
the brain should be investigated, especially how normally non-harmful
metabolites in combination with other factors that are also not injurious to most
people.
Phenylketonuria (PKU) is a genetic disorder associated with autism, and results
from a defective liver enzyme. Phenyl-pyruvic acid is a toxic abnormal
metabolite produced by the defective enzyme in the liver, and this abnormal
metabolite clearly affects the brain. Injury from phenyl-pyruvic acid is probably
similar to that caused by alcohol intoxication, valproic acid, and other toxic
drugs, and should be investigated in research with laboratory animals.
b. What are the remaining gaps in the subject area covered by this chapter?
Look for a “final common pathway” in the brain that might disrupt language
development. Autism is associated with: (1) TUBEROUS SCLEROSIS and
tubers in the temporal lobes, the auditory receptive area end-point of the
auditory system of the brain, (2) NEUROFIBROTAMOSIS and schwanoma
tumors of the auditory system, (3) FETAL ALCOHOL SYNDROME from early in
gestation leads to major deformities (hamartomas) of the brain and
disorganized development of synapse connections.
(4) ALCOHOL exposure late in gestation has been shown in to disrupt aerobic
metabolism in the auditory system [Vingan RD, Dow-Edwards ML, Riley EP.
Cerebral metabolic alterations in rats following prenatal alcohol exposure: a
deoxyglucose study. Alcohol Clin Exp Res. 1986 Jan-Feb;10(1):22-6].
(5) THALIDOMIDE early in gestation results in major malformations.
(6) The effects of thalidomide and VALPROIC ACID late in gestation should be
investigated by the deoxyglucose method as Vingan et al. did for alcohol.
What caused this to happen?
a. What has been learned about the issues covered in this chapter in the past
year?
(1) Trying to associate genetic deletions and duplications with synaptic
connectivity has not been productive. Effects on brain systems development
(especially auditory to temporal and frontal lobe language areas) would be a
simpler starting point.
(2) The brain is not discussed in epidemiological investigations, despite
decades of relevant evidence of the auditory system being especially
susceptible to damage from many causes.
(3) More animal studies should be designed to determine how two or more
factors can in combination compromise vulnerable brain systems.
b. What are the remaining gaps in the subject area covered by this chapter?
The effects on the brain of trauma and asphyxia at birth must be considered as
causes of autism. Experiments with monkeys done more than 50 years ago
demonstrated that clamping the umbilical cord and preventing the first breath
caused ischemic damage within in the brainstem, which was most severe in the
midbrain auditory nuclei the inferior colliculi (Windle WF. Brain damage by
asphyxia at birth. Sci Am. 1969 Oct;221[4]:76-84). Children learn to speak
through hearing. On my website I have cited 12 cases in which the ability to
comprehend speech was lost following injury of the inferior colliculi. See
references 72-83 at
http://conradsimon.org/SpeechComprehensionLoss.html
Which treatments and interventions will help
a. What has been learned about the issues covered in this chapter in the past
year?
Developmental language disorder is the core handicap of children with autism.
b. What are the remaining gaps in the subject area covered by this chapter?
Teach children to hear syllabic stress and boundaries between syllables and
words. Engage researchers with interests in hearing disorders and
development of novel hearing aids.
Where can I turn for services?
a. What has been learned about the issues covered in this chapter in the past
year?
The American Capitalistic society is based on every individual being self-
sufficient, self-supporting, and a productive tax-paying citizen. America's
answer to communism is private insurance. We can't really turn anywhere else
for lifespan support for the disabled.
b. What are the remaining gaps in the subject area covered by this chapter?
I used to fear dying young. Now I fear becoming totally disabled and
dependent on others. None of us knows if or when we might suffer a
debilitating injury. We need a better system for anticipating disaster and
providing long-term care. The IACC should promote enactment of a law to
require mandatory long-term care insurance for every child born. Then if
lifespan care is needed funding will be available without having to beg for
legislatures to come up with allotments from tax revenues. Mandatory long-
term care insurance would also involve actuarial scientists in identifying the
most important areas of research into the causes of autism. See
http://conradsimon.org/Society.html
What does the future hold?
The sorrow continues forever.
Other information
I posted my website on autism, http://conradsimon.org/, ten years ago. My
understanding of brain injury underlying developmental language disorder is
described there. In 1975 and 1976 I published two papers based on the
research I did for my doctoral dissertation:
(1) Simon N. Echolalic speech in childhood autism. Consideration of possible
underlying loci of brain damage. Arch Gen Psychiatry. 1975 Nov;32(11):1439-
46.
(2) Simon N, Volicer L (1976) Neonatal asphyxia in the rat: greater vulnerability
of males and persistent effects on brain monoamine synthesis. J Neurochem.
1976 May;26(5):893-900.
The auditory nuclei in the midbrain, the inferior colliculi, have higher blood flow
and metabolism than any other area of the brain, thus are susceptible to injury
from all of the etiologic factors associated with autism.