Archive for the ‘Vaccines’ Category

Medical Academy of Pediatric Special Needs 2016 Spring Conference

Sunday, May 1st, 2016

Practitioners, such as myself, find that it is necessary to attend the bi-annual Medical Academy of Pediatric Special Needs conference for two important reasons. First, to listen to experts from all over the world present their knowledge and latest research. Second, to network with, and learn from, other like-minded practitioners.

What I Liked Best
This year, I chose the ADHD path. The workups that were presented tended to be somewhat complex, and perhaps unattainable for many patients. The bottom line was to get a medical evaluation. The differential diagnosis ranges from thyroid to PANDAS. Mostly all agreed that stimulant and psychotropic meds should not be the first line in treatment. One professor spent some time questioning the diagnosis, itself, and how the modern world has contributed to the epidemic.

What I Liked Least
Traveling all the way to Costa Mesa, CA. Course work is 8 hours per day, so no time for Disneyland, etc.

This Year’s Major Focus
Mitochondrial function continued to play a big role in the presentations. The advanced courses involved lots of methylation, detoxification, and energy production diagrams. The newest twist has been the addition of genetic testing to better determine the cause(s) of inadequately functioning biologic pathways. Single nucleotide polymorphisms (SNPs) and ‘epigenetics’ were the buzzwords – how individual genes interact with the environment and within the individual leading to dysfunction and downstream signs and symptoms.

Topics That Were Discussed in Passing
Microarray genetic testing, covering multiple genes, did not play a big part in this year’s talks. Discussions about childhood immunizations underlie a great deal of the members’ conversations; specifically the lack of solid scientific evidence for safety in high risk populations. Attendees are not against vaccinations, by the way. Lyme disease was discussed in general, and as that inflammatory process relates to other infectious-metabolic conditions.

Subjects Not Formally Presented
GcMAF and nagalase levels. Some patients have indicated that a useful, safe supply may become available, so that will help determine future use. As well, chlorine dioxide, hyperbaric oxygen treatment, helminths, medical marijuana, and stem cell therapy were not offered by this year’s presenters.

Conclusion
It is disappointing to return from such conferences without that ‘magic bullet’. Just standing around, listening to Sid Baker speak about how he got interested in autism, or asking him how the ‘ion cleaning’ footpath worked, is worth the price of admission, however. This science started with Dr. Baker, and he continues to be an inquisitive, gentle force for hope, 40 years later.

In the absence of a sufficient population of scientists who are willing and available to address this modern epidemic of childhood developmental problems, this meeting stands as a bastion against the current state of ignorance.

Vaccination Redux

Sunday, April 17th, 2016

TheAutismDoctor has been asked to weigh in on the recent media attention regarding the film Vaxxed, which was scheduled, but not shown, at this year’s Tribeca Film Festival.

Robert De Niro, who helped organize the exposition, announced that he has an 18 year-old son with autism, and felt that the point of view presented in the documentary was important enough to explore. However, he decided to pull the film because the controversy is so heated that it deterred the public’s enjoyment of the rest of the event.

Do Vaccinations cause Autism?
The topic has been covered in this venue over 35 times, so I’m fairly certain that another protestation will confer little additional sanity.

Regardless of the volume and frequency with which Jenny McCarthy, Robert De Niro or Dr. Udell voice the opinion that we are not against childhood inoculations, ‘anti-vaccination’ is usually the way that the information is characterized. Opinions are either, “All or none, for or against, pro-science or anti-vaccination, educated or ignorant, healthy or dangerous.” Such points of view offer no middle ground and so this dispute won’t go away any time soon.

Discussion
I posed the following question to the ‘pro-vax’ father of a 6-month old, “You are asked to enter your baby into a formal study in which there are two groups.”

Group A – Present Schedule

Start at birth (Hepatitis B in hospital)
Fever OK (give Tylenol)
Mild illness OK
9 or more components at once OK
Negative previous reaction OK
‘Make up shots’ (for missed doses) OK
Other medical conditions OK
Development not on track OK

Group B – Other factors considered

Wait to begin until infant is clearly healthy
No shots if child is sick
Fewer components at each time
No pretreatment with Tylenol
Medical evaluation if previous problems
Appropriate testing if medically unstable (e.g. frequent infections, premature, GERD, eczema, asthma, abnormal stooling…)

Dad’s answer? “The safe one!” Really? Is that the one that the ‘scientists’ and government say is all right? And by the way, even if a physician might answer the hypothetical by responding, “Group A is perfectly fine,” their partner would probably protest, “Are you crazy? Not my kid!”

When that scenario is too cumbersome to recite, I pose another question. “Which is a more reasonable statement? ALL vaccinations are good for ALL children ALL of the time,” or “SOME inoculations might not be good for SOME toddlers in SOME situations?”

If the answer is the latter, it begs the question, “Which ones, when, under what conditions?”

Conclusion
Childhood vaccinations have been a true victory for modern medicine. They have prevented a variety of devastating diseases suffered by so many for millennia.

This movie, subtitled, From Cover-up to Catastrophe certainly stokes the controversy, as does its outspoken lightning rod, Andrew Wakefield.

No matter how frequently, dogmatic or pedantic the ‘Vaxxers’ pontificate, this polarization will continue until we understand more abut the present autism epidemic. Once that diagnosis is accurately understood and described, ‘real’ science demands independent, prospective, randomized, controlled, double-blind crossover studies of each and every component of the modern protocol to prove safety and efficacy.

Echolalia in Autism

Sunday, April 10th, 2016

Among the variety of perplexing signs exhibited by patients with autism is speech repetition. Increased understanding of the genesis and purpose of reiteration of words or phrases assists in our knowledge of ASD, and in developing useful therapeutic interventions.

Definition
As applied to autism, echolalia is the immediate or delayed repetition of vocalizations. In our electronic world, sounds don’t only come from other people. Imitation is common as toddlers start to speak, but persistence beyond the age of three continues in 3/4 of children ‘on the Spectrum’.

Representative literature:
1969
Research described echolalia as a contrary language-related rationale emanating from the study and from the literature.

1981
It is argued that researchers who propose intervention programs of echo-abatement may be overlooking the important communicative and cognitive functions echolalia may serve for the autistic child.

1984
The diversity of delayed echolalic behavior is discussed in reference to its conventionality, the presence or absence of communicative intent, and its status as symbolic communicative activity.

2013
Utilizing Behavioral therapy:
… Stimulation and echolalia decreased during treatment, and appropriate behaviors increased.
… Spontaneous social interactions and the spontaneous use of language occurred about eight months into treatment for some of the children.
… IQs and social quotients reflected improvement during treatment.
… There were no exceptions to the improvement, however, some of the children improved more than others.
… Follow-up measures recorded 1 to 4 years after treatment showed that large differences between groups of children depended upon the post-treatment environment (those groups whose parents were trained to carry out behavior therapy continued to improve, while children who were institutionalized regressed).

The Autism Doctor’s observations about the condition:
lightbulb littleIt is not uncommon to observe parents who repeatedly prompt, possibly providing a template for that speech pattern. “Tell the doctor your name. Tell the doctor your name.”

lightbulb littleWhy does the behavior occasionally seem to arise out of nowhere? By observing children who are finally healthy enough to produce vocalizations, they are practicing – singing songs over and over, and stuff that just pops into their heads.

lightbulb littleThe core symptoms of autism include restricted interests and repetitive behaviors. Speech recurrence sometimes appears to represent those issues. Echolalia is not merely, “Not getting it.”

lightbulb littleWith the frequent use of digital media and the ability to observe and listen to scenes over and over, imitation follows naturally.

lightbulb littleSpeech delay, another common sign, results in paucity of language. Children who wish to communicate, but who only possess 30% of ‘normal’ vocabulary, may be repeating each phrase 3 times, just to make up the difference.

Conclusions:
Even today, echolalia is sometimes noted as non-functional at best, or possibly annoying at worst. After all, what parent hasn’t been driven crazy but the oft-repeated phrase, “When we gonna get there?”

As a clue to the deficiency of productive communication in ASD, this sign is important for our understanding of the bigger picture.

Strategies aimed at reduction ought to include expanding useful communication, rather than extinguishing, that vocal activity.

Top Autism Stories of 2015

Tuesday, December 29th, 2015

An end-of-the-year GoogleScholar.com search for publications using the term AUTISM returned ~ 58,000 entries:
√ Treatment = 32,000 results
√ Diagnosis = 19,000 items
√ Cause = 19,000 records
√ Prevention = 10,000 entries

Here are the stories that represent this year’s salient research and experience (according to TheAutsimDoctor, at least):

December
Reduced GABAergic Action in the Autistic Brain
Evidence of this neurotransmitter showing reduced activity in the autistic brain. The supplement form is not able to cross into the brain However, it is sometimes helpful as a calming agent, though the opposite effect also occurs.

Cell cycle networks link gene expression dysregulation, mutation, and brain maldevelopment in autistic toddlers
“Further underscoring the prenatal origins of ASD, researchers… describe for the first time how abnormal gene activity… may underlie abnormal early brain growth in the disorder.”

Antidepressant Use During Pregnancy and the Risk of Autism Spectrum Disorder in Children
This is a BIG DEAL, to be discussed in a future posting.

November
Transcranial Direct Current Stimulation Treatment in an Adolescent with Autism and Drug-Resistant Catatonia
A possible new (and really expensive) treatment for ASD?

October
Oxytocin ‘Love Hormone’ Nasal Spray Shows Promise in Kids With Autism
Previously reviewed here.

EARLY SCREENING OF AUTISM SPECTRUM DISORDER: RECOMMENDATIONS FOR PRACTICE AND RESEARCH
Someone at the American Academy of Pediatrics gets it.

September
Association Between Obstetric Mode of Delivery and Autism Spectrum Disorder
This research bears out my experience as a neonatologist; the type of birth, per se, does not appear to lead to ASD.

August
Draft Recommendation Statement
Autism Spectrum Disorder in Young Children: Screening
A formal recommendation not supporting a toddler screen for ASD! Discussed in depth here.

A New Interactive Screening Test for Autism Spectrum Disorders in Toddlers.
But, if a screen is used, here is a better mousetrap.

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A
How gene function/malfunction can lead to downstream CNS processing errors.

July
A Mechanistic Link between Olfaction and Autism Spectrum Disorder
Patients don’t have Sensory Processing Disorder AND autism. Until it’s called something else, the condition is ASD.

Long-Term Outcomes of Early Intervention in 6-Year-Old Children With Autism Spectrum Disorder
“This is the first study to examine the role of early… behavioral intervention initiated at less than 30 months of age in altering the longer-term developmental course of autism.”

June
Autism risk associated with parental age and with increasing difference in age between the parents
If this is more than a mere association, it provides evidence of the environment interacting on genes (epigenetics).

May
Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample
Nature > Nurture study.

April
Long-Term Outcomes of Early Intervention in 6-Year-Old Children With Autism Spectrum Disorder
Yes, Virginia, early detection and intervention DOES matter.

Prediction of autism by translation and immune/inflammation coexpressed genes in toddlers from pediatric community practices.
A comment from the New England Journal of Medicine: “A Blood Test for Predicting Autism?
It can’t be used for diagnosis just yet, but its findings may form the foundation for a more predictive test.”

Autism Occurrence by MMR Vaccine Status Among US Children With Older Siblings With and Without Autism
Another study proving that ALL vaccinations, given at ANY age, in ANY combination, are good for ALL children, ALL of the time. Lies, damn lies, and statistics.

March
Autism Spectrum Disorder and Particulate Matter Air Pollution before, during, and after Pregnancy: A Nested Case–Control Analysis within the Nurses’ Health Study II Cohort
Higher maternal exposure to toxins during pregnancy, particularly in the last few months, were associated with greater odds of a child having ASD.

The autism-associated chromatin modifier ​CHD8 regulates other autism risk genes during human neurodevelopment
Discussion of epigenetics – how the environment works on genes.

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population
It’s not news to the ASD community… “Autism Genes Found to Be Associated with Brighter Minds

February
Shorter spontaneous fixation durations in infants with later emerging autism
Even the youngest children may demonstrate high risk signs. 

A Pilot Proteomic Analysis of Salivary Biomarkers in Autism Spectrum Disorder
An important step in diagnosing and treating any condition, is to have reproducible lab tests to assess risk, degree of involvement, and efficacy of intervention(s).

January
Explaining the Increase in the Prevalence of Autism Spectrum Disorders
The Proportion Attributable to Changes in Reporting Practices
It’s merely reassignment of diagnosis. NOT.

Is the U.S. Prepared for a Growing Population of Adults With Autism?
Since we aren’t prepared for the present growth of children on the spectrum, how could it be possible that future resources will be available?

Conclusion
Promising Forecast for Autism Spectrum Disorders
This editorial, which appeared in a respected medical journal, crystalizes the differences between what pediatricians think they know about ASD, and what parents actually experience. In practice, progress seems anemic and glacial. Autism is rocket science, mired in a political, emotional, and financial morass.

The top autism stories of 2015 are not enough. We need to recognize the epidemic, publish more information that assures vaccine safety for susceptible populations, address causes, safe and effective treatments, possible preventions, and how to address the aging of the autism population. Affected families just need more of everything.

As always, readers are invited to share their thoughts about this research,
and any other scientific papers 
that should be included.

Top 10 Reasons Why Autism Remains a Mystery

Sunday, October 18th, 2015

As regards the explosion of individuals who are diagnosed with autism, progress  seems agonizingly slow. It is the parents of affected children who are leading the way, and traditional explanations are, literally, the thinking of the last century. Why is information about prevention, cause and treatment so sparse?

Researchers are still debating the existence of an Autism Epidemic. Why should it matter whether there are more affected individuals because of reason “A” or reason “B”? That confusion holds up funding for studies, however.

Professionals continue to argue about the ‘when, how, and who’ of assigning an accurate diagnosis, which impedes trials seeking to explore prevention or treatment.

The likelihood of discovering a ‘magic bullet’ is low. There will probably need to be multiple treatments for the signs and symptoms documented in the DSM 5.0, depending on the myriad of causes and presentations.

There are no practical, accepted biomarkers for diagnosis. This is especially important in order to evaluate treatments(s) in an acceptably objective manner. This discovery alone could significantly advance research.

Surrounding the topic of ASD are highly charged issues, such as vaccinations, or complicated treatments, such as HBOT and chelation. Rather than stimulate further investigation, the situation appears to impede conventional researchers from documenting efficacy (or the lack thereof) in such controversial interventions.

Successful treatments of the various co-morbidites displayed by autistic patients, such as those offered at The Child Development Center of America, which combine biomedical and conventional protocols, are frequently viewed with skepticism, at best. These protocols deserve the attention of the medical establishment.

 We drink red G-2 and it comes out yellow.
Ever wonder where the red goes?
(hint… it’s not digested)

Proven associations, such as toxins, poisoned food and the environment, are not popular areas for discussion. Preventive measures receive little promotion or even acknowledgment. Cleaning up can be accomplished, at a cost. This involves not only public education and policy making, but personal choices, as well.

Antibiotics and steroids continue to be overprescribed by doctors, and are requested or too readily accepted by patients. There is a price to be paid for taking strong pharmaceuticals for every ‘cold’ or rash.

Research findings that implicate genetic variations imply feelings of futility about the plausibility of successful intervention. “If it’s genetic, we can’t fix it.” But, every day there are new discoveries about personalized medical treatments for autoimmune conditions or cancer, for example. Tiny chromosomal errors are not insurmountable.

Tools for early diagnosis and intervention, already proven successful, continue to elude the pediatrician’s black bag. Psychiatrists and neurologists, likewise, employ old-fashioned thinking and potent, risky medications that are barely and rarely effective.

In order to take autism research and treatment into the 21st century, organizations that are responsible for actually providing answers need to address these concerns and get serious about forming a unified and thoughtful approach to this medical puzzle.

Notes from the Autism Education Summit

Sunday, September 27th, 2015
theo and me

September 26, 2015 Dr. Theoharides and me

In the beginning of the autism epidemic, conferences included practitioners and families interested in assisting patients in their journey toward recovery. As the information has become more extensive and complicated, the needs and expectations of various parties have spawned more specific meetings.

Tufts University professor, eminent autism researcher and program sponsor, Dr. T C Theoharides, invited me to lecture at this year’s Generation Rescue conference in Dallas. It was a chance to speak to, and with, a worldwide audience of over 700 parents whose children had an ASD diagnosis.

An Alternative Biomedical Approach to Autism Spectrum
A group of ~ 50 ‘newbies’ attended. The topic was chosen because I wished to simplify the issues and offer hope that, despite what the conventional doctors have declared, recovery is possible.

The take home messages were:
1. Traditional medicine only offers bandaids for very complicated signs and symptoms. When the only tool that a person has at hand is a hammer, everything looks like a nail. The usual medications are very powerful with lots of side effects, and provide little in the way of genuine relief.

2. There is more than one way to skin a cat. Many of the other ‘DAN’ practitioners seem to utilize more complicated and expensive protocols, not necessarily superior to the approach that I find most successful. A basic workup was offered to identify laboratory variances indicating less-than-optimal health. Addressing those areas and improving energy with techniques that are not difficult to understand or institute, usually leads to significant progress.

3. Ultimately, autism really IS ‘rocket science’. There are multiple causes and a variety of presentations that even experienced practitioners are hard-pressed to understand and treat. By understanding the basics, parents can lead a team of professionals to get their affected offspring on the right track towards an optimal outcome.

Other Lectures
For 3 days, there was a full roster of presentations covering cause, effects and treatments. In addition to Dr. Theoharides, world-renowned researchers and practitioners, such as Drs. Dan Rossignol, Richard Frye, Jerry Kartzinel, and Anju Usman, gave their learned and extensive points-of-view about ASD.

It is my belief that sometimes the lectures were too demanding. Although the audience was quite intelligent and knowledgable, they seemed to expect more in the way of treatment options for their child, than basic science.

Jenny Group

Ryan Blair, Jenny, Jodi Gomes, Ryan&Dawn Neufeld, Jacqueline&Chris Laurita

Jenny McCarthy
Cue the music, lights, cameras, video screens and action! To this crowd, the lady is a rock-star. She definitely delivered a great message, filled with personal anecdotes, humor, empathy and hope. A panel discussion followed, consisting of famous, and not-so-famous, warrior moms and dads. This was certainly one of the conference highlights.

Conclusion
When I announced on Facebook that I was attending this conference, one of my ‘followers’ wrote, “I think I’m going to unlike this page now,” presumably because of the ‘misguided’ position of Generation Rescue regarding the issue of vaccine injury.  Talk about the polarized world of autism diagnosis and treatment.

Bottom line – I would definitely recommend this yearly conference to parents who have the time and resources.

Docs, Glocks and Autism

Thursday, July 30th, 2015

gunMiami Herald
July 28, 2015
Appeals court upholds doctor-patient gun law

According to the article, “The law subjects healthcare providers to possible sanctions, including fines and loss of license, if they discuss or record information in a patient’s chart about firearms safety that a medical board later determined was not “relevant” or was “unnecessarily harassing.” The law did not define these terms.”

The law did not define these terms
It has been reported that U.S. Circuit Judge Gerald Tjoflat, the author of the majority opinion, understands that, in a patient at-risk for suicide, this might be a valid medical concern.

How about this case?

A fifteen year-old male who suffers from moderate-to-severe autism (or any other medical – psychiatric condition), takes Zoloft for aggressive behaviors, perseverates on violent video games, and doesn’t seem to grasp the line between fantasy and reality.

Would it be fair to say that a discussion by the physician with the parents about weapons in the home is appropriate?

The risk factors

  • The patient’s sex.
  • The person’s age.
  • Medication(s) use. There is even a ‘Black Box’ warning on SSRIs about the increased possibility of suicide.
  • The predilection for violent video games related to behaviors.
  • The teen’s inability to discern reality vs. fantasy. When asked, “Who is your best friend,” for example, one patient responded with the name of person who he had never met.
  • Constant bickering with parents over school.
  • A loaded gun in the house.

Discussion
Such a situation might be equally as valid when a patient experiences conditions other than ASD. Indeed, people ‘on the spectrum’ are probably less likely to act with outward aggression. Certainly, a discussion about elopement is absolutely a necessity in the face of autism, as are questions about a pool safety and the ability to swim.

Surely, there are a gaggle of gun-toting attorneys who can poke holes in my case. After all, I’m just a healthcare provider.

The lawyers representing the doctors got it wrong. This is not about the first amendment rights of physicians to discuss the issue of guns. This is about public safety. And, let’s face it, when it comes to vaccinations-for-all, as an example, there’s no problem protecting the herd.

Perhaps just as certain, is the possibility that, should a shooting death occur in this scenario, a lineup of litigators would appear on the radar screen, accusing the (ir)responsible doctor of not taking the obvious and necessary steps to prevent such a tragedy. “An Accident Waiting to Happen,” might be the headline.

Conclusion
This is an insane law that supports the NRA’s unyielding position about the rights of gun ownership. It is proof of how corrupted our system has become, due the superabundance of lobbying money.

Gun control is what we need, in the face all the senseless shooting deaths by too many young men, who obviously have mental challenges. However bizarre, it is a standing law that has now been upheld by the Florida Court of Appeals.

More information will be required to illuminate the holes that are created by this imprecise lawyer-speak.

The Media and Autism

Saturday, July 11th, 2015

Emily Willingham, Forbes blogger and self-appointed autism expert, couldn’t let the story about the death of Dr. Jeffrey Bradstreet pass without injecting her two cents.

Dr. W commenced her comments with a 2,000 by 1000 pixel, scary picture of a syringe and needle. I never saw that photo at the beginning of one of her ‘Vaccination is Perfectly Safe‘ stories. She went on to detail the nefarious activities of a doctor administering a dangerous serum to unsuspecting patients. Em, have you ever heard of botox?

Conjecture, innuendo and professional jealousy notwithstanding, Dr. Bradstreet was the parent of an autistic son, and an early adopter, researcher, and lecturer of biomedical treatment for the disorder. He popularized medical evaluation and protocols to address metabolic variations at a time when the generally accepted cause of ASD was considered to be bad parenting.

All but the most conventional treatments are presented as kooky at best, harmful to patients at worst, and a waste of time and money. Some of the latest national news headlines regarding autism will illustrate:

  • ABC – Jim Carrey Apologizes for Posting Photo of Autistic Boy
  • CBS – Authorities: Anti-vaccine doctor dead in apparent suicide
  • CNN – Another study finds no link between MMR vaccine and autism
  • NBC – ‘You Don’t Outgrow Autism’
  • Fox – Woman says diet is healing son’s autism

Perhaps this situation, more than any other circumstance, hinders further worthwhile (i.e. causes and treatments) autism research. Headlines are made when a researcher is proven incorrect, statistics are questioned, and even a teen’s murderous rampage is presaged with possible links to Asperger’s Syndrome.

Regardless of the manner in which autism as a medical condition got so far off track, a new attitude needs to accompany the message that academics, practitioners, parents and charities project. Even skeptics who questioned the HIV/AIDS situation abandoned the ‘it’s their own fault’ line of thinking.

What can be done?

Autism foundations need to work together. Autism Speaks, The Autism Foundation, Autism Societies, and Local chapters have to find a way to advance positive publicity and useful information. There is little room for discord at this time. An unpopular stance, perhaps, but it can only help in the search for effective treatments.

Researchers need to get out in front of the media so that the epidemic proportions are clear, and that real work is being done to further study. Disagreements, such as increased incidence only being a perception, have already been addressed by the CDC.

Knowledgeable parents are doing the most effective job of finding professionals and insisting on protocols to help their affected offspring. Doctors need to join in this effort and announce the remarkable improvements that occur when biomedical and conventional treatments are combined.

Neurologists need to get on board. Frequently, parents are admonished that, “Nothing more can be done.” Improvements following biomedical protocols are either dismissed as coincidence, imagination, or magic.

Other specialists need to get on board. This means that allergists, pediatric psychiatrists, immunologists, dermatologists, gastroenterologists, and pulmonologists, have to broaden their knowledge base and focus on the patient, not their particular subspecialty. Too often, parents are only informed that the problem does not lie in their domain.

Pediatricians and family practitioners need to get on board. This is the childhood epidemic of our time, doctors; embrace it, learn about it, and take the time to talk to your families.

Autism heroes, such as Temple Grandin, Drs. Martha Herbert, Susan Swedo, Robert Naviaux, Richard Frye, and Jill James are modern medical role models for the next generation. The media, including Forbes, needs to highlight these personalities, rather than obfuscating this important issue with titillating stories and dogmatic posturing.

Conclusion
People who have Parkinson’s disease are not Parkinson’s experts, nor are people with cancer oncology specialists. Lorenzo’s oil is the exception, not the rule. Insiders and outsiders alike, need to embrace those who are doing real work to solve this problem.

The autism community includes a large, diverse population of well-meaning, knowledgeable and competent people. Together, we will understand and conquer this devastating scourge on our youngest constituents.

Wouldn’t it be nice if the media extended a helping hand?

What Pediatricians Can Do About the Autism Epidemic

Saturday, June 27th, 2015

Pediatricians are the first line of defense against childhood conditions that have lifelong effects. Traditionally, that has included the Denver Developmental Exam, frequent doctor visits in the first few years, and vaccinations to prevent childhood diseases.

News Flash
There is an epidemic of childhood conditions that include ADHD and ASD, conflicting opinions notwithstanding. That means that pediatricians ‘stand at the door’, and are responsible for prevention and treatment, no matter how much they resist this reality.

Stay up to date on pertinent literature. As the HIV epidemic began to emerge, medical science experienced a quantum leap in our knowledge about the immune system. Similarly, the increasing volume of parents who are concerned about their children’s delayed speech, lack of focus, and hyperactivity, demands more research and knowledge and less kindly reassurance, which is based on the experience of the previous century.

Carry a high index of suspicion. Five or ten minutes spent with a parent and child is not enough time to perform a thorough physical examination and elicit pertinent clinical information. The visit should include a documented nutritional summary.

Make a presumptive (if not definitive) diagnosis. Parents need information, and the child’s pediatrician is the expert. It’s fairly simple – delay in communication, repetitive behaviors and lack of socialization demand an explanation and exploration. Loss of language, lack of eye contact, and poor tone are red flags to be explored, not ignored.

Do a proper workup. At least check the blood count, thyroid, liver and kidney function. What is over-kill about exploring vitamin and mineral deficiencies in a picky eater? Then, the doctor could evaluate whether appropriate intervention makes a difference in the signs and symptoms that concern parents.

Make appropriate consultations as early as possible. In a recent UC Davis study, six of seven high-risk children who received therapy alone lost the presumptive diagnosis. Parents will be more upset with the pediatrician who says, “Let’s wait,” and improvement does not occur, than one who advises, “Let’s err on the side of caution,” even if symptoms could have abated without intervention.

 Advise parents to try the gluten free – casein free diet for a few months. What is there to be afraid of? Uneasiness about creating a nutritional deficiency can be easily checked with laboratory evaluation and documentation of proper growth.

Perform an appropriate evaluation for associated signs and symptoms. Explore the cause of frequent infections, rather than responding with the knee-jerk reaction of prescribing antibiotics. Miralax® should only be given for brief periods and for occasional constipation, and isn’t even approved in children. GERD that is treated with antacid preparations can lead to vitamin deficiencies. Steroids may reduce skin rashes, but do not address to the root cause.

When a child has the diagnosis of ASD, the doctor should explore safety issues. Elopement is not uncommon, so family plans should be devised. Although learning to swim is no insurance against a tragedy, acquiring that skill helps provide some peace of mind. Incongruous laws notwithstanding, discussing gun security is a must.

Provide parents with a reading list. TheAutismDoctor.com is a good start, where discussions are presented to address the polarized world of autism diagnosis and treatment. When possible, the essays have hyperlinks to the original research. The Newsworthy tab includes the most recent and pertinent literature.

Become knowledgeable about the variety of protocols. The doctor who has read the literature (both pro and con) about alternative treatments is the only one qualified to give advice. Practitioners who assert, “I’m not aware of this or that treatment,” may be highlighting their ignorance, rather than providing up-to-date info. Therefore, unless the pediatrician knows about a therapy, the patient will surf the ‘net, and listen to the professional who does.

Understanding Autism Better

Sunday, May 17th, 2015

A growing number of children with tiny genetic differences, known as copy number variations, have accompanied the steady increase of patients who visit The Child Development Center.

Often, the conventional advice is that 1) such anomalies are probably not significant, and/or 2) no information is available about ‘that’ particular abnormality.
Do not believe it if your doctor has only told you that, “The chromosomes were normal.”
Take a moment to read the results yourself.

Chromosomes are structures inside our cells, mostly made of DNA. Genes, the basic building blocks of life, are located there. Suspected errors are sometimes only 1/1000 of an inch long! There seems to be a controversy about how different professionals understand the ‘not enough – too much – transposed’ pieces of DNA. How difficult is it then, for parents evaluate?

The basics about genetic results have been previously discussed here.
A specific description about copy number variation is described here.

Results are already available in children who have had a genetic testing, since they are included in the ‘Fragile X test’ (one of the known genetic causes of ASD).

Why perform a chromosomal test?
It should be required in all children who have a Spectrum diagnosis. It’s much more likely to be positive than an anesthesia-requiring MRI or EEG (especially in the absence of seizures).
The argument that testing is not necessary because, “The mom is not having any more children,” is specious. Such information can be quite important for the patient. If there are other people who have the same small chromosomal variations, they can add a great deal more knowledge about your child than merely Googling the cause and treatment of autism.
Additionally, as the future brings more and more information about the performance of those particular pieces of the chromosome – and the genes residing therein – there is added hope that it will lead to specific treatments, or regimens that might be avoided (such as, say, vaccinations) in affected individuals.

Which is the best chromosomal test?
For ninety-nine bucks, 23andme is not the best bet. A saliva sample yields information about ancestry, predisposition to certain traits (e.g., digestion, taste, metabolism, even HIV resistance). However, the SNPs (tiny genetic variations) that are tested are not indicative of ASD.

According to a formal consensus statement of genetic experts, chromosomal microarray (CMA) testing of the blood, “…offers a much higher diagnostic yield (15%–20%) for genetic testing of individuals with unexplained developmental delay, intellectual disability, ASD or multiple congenital anomalies…”
This is a >$1500 blood test (listed here) .

Lineagen advertises that their buccal smear test (a swab from inside the cheek) identifies the most number of changes that are related to autism diagnoses, and is superior to those offered by other labs.
The cost exceeds $5,000. Without insurance, that amount is often prohibitive. As data accumulates, so will the knowledge about the value and validity of this method.

How to read the results of chromosomal microarray testing?
Unless the microarray contains the text, “XX Normal Female,” or “XY Normal Male, no abnormalities reported,” continue reading and ask the lab or a trusted professional to interpret.

How to use the results of chromosomal microarray testing?
Go to the database SFARI gene,
Click on the Copy Number Variant button,
Click on the gene(s) with variation, and follow the table to the letter that best matches your child’s findings.

Conclusions:
Parents often exclaim, “I don’t care what the exact diagnosis is, just make my child improve!” However, the more precise the analysis, the more likely it is that treatment will better target each individual’s physiology.

Knowing this information about your child is valuable – not only in the future, but adds to understanding and treatment for the present situation, as well.

Addendum:

(New York Times 5.14.15)
U.S. Introduces New DNA Standard for Ensuring Accuracy of Genetic Tests

(Journal American Medical Association (6.15)
Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Chromosome 7 flaws alter chemical tags throughout genome

 

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