Posts Tagged ‘ASD’

Fixing Facebook Autism

Sunday, July 19th, 2015

IMG_6413-highA couple of years ago, I wrote complaining of TheAutismDoctor.com’s condition of Facebook Autism. The symptoms included social media isolation, repetitive posting of signs and symptoms, and trouble with digital communication.

But recently, merely by posting a change in my Facebook profile picture, I got more ‘hits’ than stories that took hours to research and report. The uploaded photo was actually a mistake. I just wanted to comment about my interesting Amsterdam trip, for those who might have been wondering what I was doing out of the office for a week.

My beautiful and patient wife, Jackie, remarked that, the increased interest was because I was finally telling something about myself, and sometimes people want a real person behind the blog.

Why autism means so much to me…
There are many similarities between the present epidemic and my career in neonatology. I have been a pediatrician for over 40 years, and I was one of the earliest adopters of machines, monitors and medicines for the tiniest premature babies.

Many of our patients were ‘cocaine babies’, and considered to have incurable conditions that were futile to address. They were broken children and families that needed our help. I was able to optimize the infants’ environment and nutritional status, and many of our patients went to wonderful parents who were quite pleased.

The next epidemic that affected my practice was HIV/AIDS. Like autism, I was taking care of patients for many months and wasn’t aware of the scope of the problem. At first, there were no diagnostic tests, and after they were available, it could take weeks to get results. There were no medications for treatment, and the future looked bleak. Patients were going to foreign countries for exotic treatments. Even when the first antiretroviral drugs were introduced, it was difficult to get them for our mothers and children.

Epidemics are so interesting because, by solving a finite problem(s), there are many other affected patients who can be assisted, as well.

Also, I probably have a few autistic tendencies myself…
I admit that I have some sensory issues. I prefer to control my personal space, and so I like to have healthcare and grooming performed by familiar professionals.

I would rather not have more than 2 or three items on the plate at the same time. At first, I wasn’t aware that I was a picky eater.  However, at a recent ‘surprise’ dinner, for example, the waitress asked if there were any foods that I didn’t wish to order. “Do you have a notebook handy?” I asked.

I possess a high predilection toward computer products. I was an Apple programmer (machine language) in the olden days, and still spend way too much time on digital devices.

My patients are well aware that I ask that medical protocols are followed, as directed. Introduction of  a new medication or supplement should take place one at-a-time, with alteration only reserved for a possible negative reaction.

I can relate. 

Conclusion
OK, enough about me, let’s move on to helping your children affected by ASD.

 

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?

Cali-Vaccination Law

Sunday, July 5th, 2015

Senate Bill 227, mandating childhood vaccinations, will take effect in California in 2016, joining 36 other states that no longer allow an exemption for personal or religious beliefs. Non-compliant families will not be able to use licensed daycare facilities, in-home daycare, private or public preschools, and after-school care programs.

Children who are not up-to-date will be required to home school. Also, the legislature may add any additional vaccines that they deem necessary. Parents are left with few viable alternatives.

Exemptions
Ironically, unvaccinated students with IEPs will still be able to access those programs.
Those with a preexisting personal exemption may continue until the next school year.
Parents requesting a medical exception must provide a physician’s statement that details which ‘shots’ are not OK, and the reason(s) for non-compliance.

The Government Doesn’t Always Get it Right
According to the Innocence Project, 330 post-conviction DNA exonerations have occurred since 1989. Twenty people were on death row and the average length of time served per exoneree was 14 years. Whoops.
The CDC keeps dropping the ball with the flu vaccines. After admitting that the 2015 ‘shot’ is ineffective, as in previous years, the universal message given to the public from the government and mainstream media was to “get the flu shot anyway.” There is evidence that some flu vaccines could make things worse.
As demonstrated in the case of antibiotic overuse, the FDA can’t regulate even when scientific research is convincing. Important practical issues, such as incorrect vaccine labelling and storage have never been adequately addressed.

Future studies may identify specific individuals, such as those with genetic Copy Number Variations, G-I, and immune system difficulties, who are susceptible to vaccine injury. Differences have recently been identified regarding the effects of medications on men vs. women, infants vs. adults, and there are now even individualized chemo treatments. In medicine, one size does not fit all.

The herd has been protected so far.
Even though the number of cases increased sharply in 2014, there were still less than 700 reported measles and 1150 mumps cases. Many patients had  previously been vaccinated, or were too young to get a shot. Worldwide, there were ~ 400 cases of polio reported in 2013. Working together (mutually beneficial relationships), drug companies and governments have done a fairly effective job.
With CDC surveillance and public health reporting, outbreaks can be detected using appropriate testing with inoculations to avert tragedy.

Based on an incidence of 1/68 children, the number of patients with autism equalled nearly 60,000 in the US.

Conclusions
There doesn’t seem to a great deal of wiggle room for parents who remain convinced that an inoculation altered the course for their typically developing child. Does a previous child with autism after a shot count? How about those who are already not developing normally? Many children have fevers and diarrhea following a vaccination, so that is significant. Should febrile seizures be a concern? Does a child with Tuberous Sclerosis who does not show signs of autism (yet) count?

An already elevated titer against a disease seems to be a contraindication to revaccination. There are patients with high or low white blood cell counts, so this might become a possible possible temporary exemption.

Finding a physician willing to assist in the process is one part of the journey. Crossing t’s and dotting i’s to adhere to regulations will take time for already-resource strapped families.

The change in the law is a knee-jerk reaction based on inadequate scientific information, conflicts of interest from those who are supposed to be protecting us, and presents an unnecessary barrier for thoughtful, intelligent, concerned parents.

For many parents, homeschool dot-coms may be the most preferable alternative.

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.

Video Games and Autism – ADHD

Sunday, June 21st, 2015

“Watching that TV is going to make you stupid!” Such has been the advice of older generations since the first Philco screens appeared in our living rooms over a half-century ago.

In 1980, University of Pennsylvania professors wrote in the Journal of Broadcasting, “…television has inhibited intellectual development on a broad social level; it discourages students from reading, fun concentration skills, and impedes the acquisition and practice of scholastic discipline.” Apparently, that advice was not heeded.

tv graph 1In 2004, a paper in the Journal of Genetic Psychology concluded, “In sum, children who watched more television tended to spend less time doing homework, studying, and reading for leisure. In addition, their behaviors became more impulsive, which resulted in an eventual decrease in their academic achievement.” Viewing continued to increase.

“Playing those video games is going to make you stupid!” Again, the advice offered by older generations since Super Mario became popular a quarter-century ago. TIME magazine reported that “… the average U.S. gamer age 13 or older spent 6.3 hours a week playing video games during 2013. That’s up from 5.6 hours in 2012, which was up from 5.1 hours in 2011. “

Differences have evolved, however, in society and technology, so that children of all ages may be at risk for impaired neuro-typical abilities, especially in the social domain.

The i-Differences

Ease-of-Use (for those under 40)
Doctors should research how Steve Jobs was able to reach the most basic areas of the brain. Easily managing the user interface is a skill that children barely out of infancy can achieve. It doesn’t make the child “…good with computers.”
Entertainment that comes with so many movements, bells, and whistles is very attractive to developing minds. Non-electronic toys require real imagination and encourage socialization. Previously, dolls and such that talked usually ‘sucked’ because they were boring. With iPhone, there are infinite possibilities.

Variety of Formats
No longer are kids sitting on the same couch doing the same activity. One might be texting her BFF while another is annihilating aliens on the big screen. On personal devices, it is not necessary for another human to be present. And, even if present, it is not necessary for someone to exist in the same room (or country).
This situation adds to the disconnection that already exists in our world. When asked, “Who is your best friend?” patients are frequently stumped.

Games are Violent and Graphic
Similar concerns accompanied the warning about promoting violence in previous technologies. This time, however,  the viewer has control. There are blurred lines determining good and evil, spirituality, or even a sense of humor. A 2007 paper demonstrated, “… a physiological desensitization to violence.”
As 3D and VR improves, there are blurred lines about reality, as well.

Nature of ASD and ADHD
Anger, frustration, anxiety, lack of focus and attention, distractible, short-fuse, non-social, in-their-own-world, bossy, and sensory overload are not characteristics that a parent would ever want to encourage in a child who has developmental difficulties.
Sleep may be disturbed by a teen’s insistence on continuing play. Homework, already a non-preferred activity, may become a major distraction.
A new wrinkle in the video game arena is ‘you-tubing’ another player play. What is that about? Lots of teenage patients spend HOURS each day viewing this. “Why, I ask?” “It’s funny!” is a typical response. One parent offered, “He’s learning techniques.” I never got better at golf by watching golf.

Conclusion
On health-related issues alone, researchers noted, “… while television use was not related to children’s weight status, video game use was.”

The next generation of video experience represents a possible sea change for childhood growth and development. A recent analysis concluded, “The evidence strongly suggests that exposure to violent video games is a causal risk factor for increased aggressive behavior, aggressive cognition, and aggressive affect and for decreased empathy and prosocial behavior.

Pathological gaming has been noted in those who, “… spent twice as much time playing as nonpathological gamers and received poorer grades in school; pathological gaming also showed comorbidity with attention problems. Pathological status significantly predicted poorer school performance even after controlling for sex, age, and weekly amount of video-game play.”

Neuro-diversity may take years for understanding, and biases endure. This technological circumstance may be an advantage that encourages certain skills, but could be a deal-killer for others, especially those with academic and social challenges.

 

 

Toilet Training and Autism

Sunday, June 14th, 2015

iPotty. Available @Amazon.com ~$30

Every parent faces the chore of imparting proper potty skills. Then, there is toilet training toddlers affected with autism.

I was recently interviewed about the special challenges that face parents as their affected offspring embark upon this important developmental milestone. Here are the questions and answers:

What challenges do children with autism have, either mental, social, or physical that would make learning a skill like potty training difficult?

Many children who are affected with autism have other medical conditions – known as comorbidities – that affect their health, especially in the gastro-intestinal tract. Poor G-I function can lead to diarrhea, constipation, GERD, and inflammation. Sometimes it can occur following the overuse of PPIs, antibiotics, or Miralax™.

Multiple sensory issues, accompanied by increased pain tolerance (or decreased perception) need to mature, so that traditional techniques are more likely to be successful.

Decreased energy production leading to decreased abdominal and rectal muscular function presents physical challenges for affected patients.

As these issues are successfully addressed, parents see improved toileting abilities.

Toilet Electric

Patent US 4162490 A 1978 Fang-Cheng Fu, Chien-Hung Fu A battery-powered toilet training device… to provide improved training of toddlers… A non-contact electronic sensor is used to detect the presence of urine and stool in the receptacle. A battery-powered toy is used to produce an audible signal and a mechanical motion to reward the toddler and to signal the trainer when the toddler’s elimination begins.

What effect does parental support or having a parent who is educated on autism have on the development of a child with autism?

Understanding that schedules are important to many children with ASD can be a key feature for achieving success. I usually ask parents to try to put the child on the potty one or two more times than the number of stools per day. That way, the child has more chance for success. Some schools will take children frequently.

Knowledgeable parents pay attention to the signs that the child wants to/ needs to/ is going to… “do number 2″. Sometimes, they are lucky, and catch it early enough. Literally.

Assistance is provided by achieving G-I health with non-inflammatory, non-processed, lower sugar, better digested foods.

There are even special sensory challenges, such as the noise from a bathroom hand dryer, that make facilitating acceptable auditory functioning paramount for success in that venue.

Have you ever had parents come to you needing support or information in the area of potty training?

This is a common problem that becomes increasingly noticeable as children enter preschool years. General-education staff are usually resistant to students who have not acquired this skill. There are lots of websites, but most parents have explored that route.

Behavioral, occupational, physical and neurodevelopment interventions by professionals can be quite helpful, especially when referred by previous successful families.

Do you have any research or stats on the relationship of potty training and autism, or on the topic of potty training as it pertains to autism?

The earliest work on this actually appeared when Dr. Leo Kanner first described Autistic Disturbances of Affective Contact 75 years ago. A majority of the children displayed gastrointestinal signs and symptoms that were overlooked at the time (by the father of modern child psychiatry).

Another unfortunate reality is that, medical evaluation has been slowed by the inclusion of all ‘retarded’ children in many of the early studies about this problem. A 1970’s article entitled, Toilet Training of Normal and Retarded Children, appeared in the Journal of Applied Behavioral Analysis.

In the 90’s, Additive Benefits of Laxative, Toilet Training, and Biofeedback Therapies in the Treatment of Pediatric Encopresis represented the state of the art. Comorbidities were not recorded, and autism was not an outcome measure.

At last, in this century, research documenting ‘normal‘ acquisition of bathroom skills appeared in a respected pediatric journal. A review entitled, Toilet training individuals with autism and other developmental disabilities concluded, “Shortcomings to currently available programs are highlighted and future areas of study are suggested.”

A ‘model for treatment‘ has been offered in a respected research journal. It was based on two patients.

There is plenty of room for improvement in our understanding and treatment of this difficult problem.

Stopping the Autism & ADHD Supplements

Saturday, June 6th, 2015

I once asked Dr. Dan Rossignol how to cut back on the multitude of supplements that children take for ASD and ADHD. The leader of the Medical Academy of Pediatric Special Needs, simply stated, “Brian, it’s easier to get kids on them, than off.”

Often, a really difficult patient arrives at the Clinic with many, many medical issues. ‘Stims’ appear way out of control. Language is at a bare minimum, if at all. This is not the time to stop anything. Or, it may be the time to stop everything! Another patient is doing great, and the family wants to travel – perhaps without a suitcase of vitamins.

Until more research and information is available regarding the specific cause(s) and treatment(s) for developmental conditions known as Autism Spectrum, practitioners need to figure out our own protocols for starting AND stopping the myriad of sometimes helpful products.

Methyl B12 injections. Let’s begin with a favorite, as far as kick-starting the difficult sign of speech apraxia. Reasons to stop may include:
1. There are just more ‘stims’, without any vocalization improvements.
2. G-I problems appear to interfere and amplify aggression-frustration-distraction-focus. In this case, there may only be a temporary halt.
3. If the child just won’t ‘shut up’, it may be time to give this vitamin a rest.

Antifungals. Medications, such as fluconazole, require frequent laboratory evaluation and should be discontinued as much as is tolerable for the patient and family. Citrus seed extract, turmeric, apple cider vinegar, and the like, may be given as long as they are accepted.

Multivitamin preparations. Once the child achieves a healthy, varied diet, it’s probably OK to discontinue this fairly expensive supplement. Let’s see… a healthy, varied diet… that will be… ~2025?

Oral glutathioneWhen the correct liposomal protein is utilized, it is one of the most effective products for attention, tone and apraxia. Once inflammation from known and unknown sources is reduced to a point that the child’s immune and detoxification systems can handle it, there may be no further need. Let’s see… reduction in environmental toxins and the high-risk patient’s overreaction to inflammation… that will be… ~2025?

Probiotics. Today’s children are exposed to genetically modified foods, steroids, antibiotics in everything, and attacks from all new kinds of cooties. The best way to battle this situation is a dense concentration of varied strains of high quality bacteria. Let’s see… a decrease in toxic substances and germ killing products… that will be… not in this century.

Special diets. Many parents are eager to re-introduce the forbidden foods. Once a diet is undertaken and positive results are observable, plan on about 2 years of restrictions. When the diet is expanded, choose one at-a-time, at weekly intervals, in order to notice any problems.

Calming supplements. To the extent that magnesium, tryptophan, theanine, taurine, GABA, and/or pycnogenol, are helping, subsequent decrease in self control or aggression might follow their discontinuation. This should be relatively simple for a parent to observe. Restart as needed.

Metabolic enhancements. Stopping products, such L-carnitine, L-carnosine, CoQ10, and/or others may result in observable behaviors, such as weakness, tiring, easy fatiguability, poor attention and focus.

Knowing when to say no:
Combining biomedical treatments with the proven traditional therapies, such as Behavioral, Speech & Language, Occupational and Physical Therapies, results in palpable improvement. Discontinuation may be a real mistake.

At the end of the day, as long as a supplement is safe, possibly effective, reasonably priced, well-tolerated, and doesn’t result in any prolonged negative behaviors, parents are quite satisfied when development gets on a normal trajectory.

Likewise for stopping them. If it doesn’t appear to make a difference (even after 2-4 weeks), doesn’t seem to be worth the $, may be causing more prolonged negative behaviors than improvements, and development proceeds at a normal course without it, there may be an opportunity to discontinue. Then, watch closely.

Aspertools for Asperger’s Spectrum

Sunday, May 31st, 2015

There is a great deal of medical information to be learned about the autism epidemic of this century. Aspertools: The Practical Guide to Understanding and Embracing Asperger’s, Autism Spectrum Disorders, and Neurodiversity is a useful book to read and keep in our growing libraries.

It’s an interesting story in it’s own right.
The author is an orthopedic surgeon, professional heavyweight boxer, writer and film maker. That background, plus his life as the loving father of a special needs child, weaves a fascinating thread throughout the text.

This book is helpful for many parental challenges, not just Asperger’s Syndrome.
“Everyone… should be encouraged to discover their passion and then pursue it. If you can make a living at it, and if you can help others while you do it, so much the better.” Dr. Reitman talks about behaviors that get “amplified” in an Asperger’s patient, so many of the insights could work with ADHD, ASD, and oppositional behaviors, as well.

It’s best read by both the Asperg-er and the Asper-gee (those interacting with an Aspie).
Each chapter is presented from multiple points of view, including an expert teacher and the author’s daughter, who has the condition (and more), and provides helpful hints and useful action plans.

It’s a great place to start for a family looking for answers.
Patients with Asperger’s Syndrome have some common challenges, for sure. However, on closer examination, there is a great deal of diversity.
Dr. Reitman covers topics such as anxiety, meltdowns, sensory issues, transitioning, repetitive thoughts and “hyper-interests”, and socialization, with common sense techniques that deserve a trial.

The book also provides insights for experienced parents.
Aspertools contains information that makes sense and is easily applied to real life situations. Understanding that video games provide (virtual) socialization and an increased level of control, provides food for thought. Additionally, there are tips for limiting choices “to avoid ‘No!'”, practical concepts, such as breaking larger tasks into smaller ones, and the importance of time management.

Neurodiversity
Historically, the difference between Asperger’s and Autism was the age of language acquisition (later in the latter). The DSM 5.0 has subsumed the diagnosis under Spectrum Disorder. The delay in typical socialization is now being recognized as a common factor.

Autism expert (and patient) Jim Sinclair first spoke about the concept of neurodiversity in 1993. Aspertools contains informative vignettes, insightful humor, pathos, and practical ways to chart a successful course for an ‘Aspie’. In short, Dr. Reitman emphasizes the need to look at the world through another’s eyes.

In some ways, being less obvious than their ASD cousins, Asperger’s patients get the short side of research and successful intervention. This text paves the way for a better life for affected families.

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

 

Talking At TACA

Sunday, May 3rd, 2015

I had the privilege of speaking at the Talk About Curing Autism Conference, which was held in Philadelphia this weekend (5.1.15).

The topic that I was asked to present was Mast Cells. Dr. T C Theoharides is a world’s expert on this subject, but couldn’t attend, so I was asked to lecture in his absence.

The Talk
Mast cells are a type of white blood cell that exist is various locations throughout the body, and are responsible for protection and healing. They do their work by discharging chemicals, such as histamine, from packets that are contained within the specialized cell.

Dr. ‘Theo’ has published a great deal of the research about these critters, and among his discoveries are the following:
 Mast cells exist in relative abundance in the skin, but also in key areas of the brain that ultimately affect sensory and cognitive function.
 The cells have an intimate physical and chemical relationship with the blood vessels, nerves, and other immune cells inside the brain.
 Mast cells function differently inside the brain than in the skin, releasing their chemical contents in different ways and with a variety of substances other than histamine.
 They could be responsible for ‘brain allergy’ and many of the signs and symptoms of ASD, such as brain ‘fog’ and irrational outbursts.
 Prevention of mast-cell release inside the brain may be a valuable tool in the treatment of autism.

TACA
The organization was founded at the beginning of this century as a parent support group to discuss the growing epidemic about which doctors and other professionals did not seem to have a clue – from diagnosis, to cause, to treatment or prevention.

The mission statement includes a belief “in early diagnosis, intensive therapies and medical intervention for children affected by autism. With early intervention, medical treatment unique to each person’s needs and necessary support services for families many children can improve greatly and some can recover from their autistic symptoms.”

“From a grassroots beginning in Southern California, TACA expanded nationwide and now has a physical presence via our Chapters in 23 states and a virtual presence in the rest of the nation.”

Final thoughts
In the beginning, there was ‘Defeat Autism Now!’  – a group of physicians (DAN! doctors) and parents, searching for answers about how to understand and help patients affected with ASD.

That organization has grown and given rise to the Autism Research Institute and The Medical Academy of Pediatric Special Needs. Now, Autism Speaks, The Autism Society of America, Generation Rescue, and many other local organizations have emerged, dedicated to bringing relief to this modern epidemic.

In the medical vacuum that has appeared since the rise of ASD, doctors have yet to really fill the void with solid research or reliable interventions. What the autism community needs is either a cohesion of the disparate charities that already exist, or a new entity that helps to raise dollars for primary and clinical research that yields even more knowledge and hope.

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