Archive for the ‘News-Maybe-Worthy’ Category

Digital Devices and Autism

Sunday, August 21st, 2016

iphonepuzzle2Nearly every day, a family enters our office and, within moments, the child obtains some type of digital device. A parent then admits, “I have to give him the iPhone.”

For affected infants, toddlers, and youngsters, this behavior only appears to be obsessive – compulsive disorder. Restricted interests and repetitive behaviors are part of the fabric of Autism Spectrum. Some children draw pictures, play a musical instrument, bang on a table, line up toys, or bounce a ball, for example.

iStuff takes these habits to another level, entirely.

The Good
There is a wide selection of programs, such as Proloquo2Go, Communicate Easy, and GoTalk NOW that can be an invaluable aid for the apraxic child. They streamline effective communication, where before the PECS tended to be kludgy and restricted. The addition of electronics means that the children get to hear words, or even observe lip movement.

Parents will often discover that their child has learned to read by utilizing digital media. Many patients even display an ironic ability to learn another language. “I didn’t know he could do that!”

Hidden abilities, such as videography or photography can take shape. Drawing and other design-assisted skills encourage artistic expression.

Plus, playing games is always fun.

The Bad
Digital stimming promotes OCD behaviors. Older adults may remember their talking childhood doll, Chatty Cathy. Pull the string and she would randomly repeat 1 of ~12 cute phrases. However, after just a few days, the child would be less likely to use the dolly’s cord, and more likely to talk for the doll. It got boring. On an iThing, there are infinite choices.

A parent may point out their child, engrossed in Angry Birds, and inaccurately observe that, “She’s very good with that iPad.” Repetitive behaviors and restricted interests can lead to a great deal of frustration – and aggressive behaviors – when the battery runs out.

A recent study even documents the effect on sleep when children have screens in their bedroom. The loss of proper rest often adds to frustration, a short fuse, confusion and fog.

broken iPhoneThe Ugly
No imagination. For most of the apps, everything is there to entertain children of all ages and all levels of skill. There may be little incentive to go to ‘the next level’, as the present state of perseveration is sufficient. The toy talks to the child, rather than the other way ’round.

No socialization. Individuals can spend hours doing the same iActivity over and over. Whereas the Pong TV Game of the previous century was more interesting when played with another human being, the computer is an engaging opponent. Sharing, which is part of neurotypical development, is rarely promoted, because the scenes are short-lived and mostly interesting in real time. With many games and adventures, there is nothing to show.

Conclusion
Digital devices are not only here to stay, their complexity and power to invade our lives will increase. After watching thousands of patients and talking to their parents,

TheAutismDoctor’s advice is to limit electronics to
the time that is absolutely necessary
for the parent to have a life.

Cooking, caring for siblings, driving, and other chores, often demand the full attention of the adult. Those should be the most acceptable, defined periods of time to offer, or allow, the use of electronic toys. In order to achieve such control, parents should start utilizing such a strategy at the earliest possible age.

Finally, get outside as much as possible.

School Preparation for Special Needs Students

Sunday, August 14th, 2016

Boy in streetBoundless advice is offered on all forms of media that suggests the best ways to handle the coming school year. Here are some tips that may help your not-so-neurotypical youngster who faces the challenges of the next academic season.

  1. Don’t wait to begin a daily routine; sleep time, awakening, toileting, dressing and morning breakfast should be consistent. Try to make that First Day as mundane as possible. Resist the urge to gush over the child, since such shows of affection may add to anxiety.
  2. Get sleep under control now. Consider warm epsom salt baths, essential oils, and special quiet time, especially free of digital devices. Melatonin should be considered. It is safe and effective; so, as the commercials say, “Ask your doctor today.”
  3. If there has been a lapse, re-start the supplements and medications a week or two before The Day. In addition, be prepared for the Fall stressors that may make parents want to re-think the medication schedule, and try to persevere, rather than get on the stimulant +/- anti-anxiety merry-go-round.
  4. When school starts, make sure that the child’s day includes some type of exercise, even if it’s just walking for a half hour. Sometimes, substituting traditional after-school interventions with social activities, such as marshall arts or hippo-therapy, can be quite helpful to the bigger picture.
  5. Double down on previously helpful diets. Consider trying safe supplements, such as probiotics, magnesium, or 5-hydroxy-tryptophan.
  6. Practice reading, math, etc. Those non-preferred activities are not going to get easier on their own. Your child is not lazy, dumb, or forgetful; continued difficulties with processing create challenges beyond those of typical peers.
  7. If necessary, construct easy-to-use, easy to institute, readable lists for teachers, administrators, school nurses, and kitchen staff.
  8. Consider whether the IEP created 3 months ago matches your child’s present skill set. Children who are recovering from autism often experience better improvement when placed in the company of neurotypical role models, rather than aggressive, non-verbal peers.
  9. Meeting the staff, and introducing the child to those individuals can be a great stress reliever. When starting at a new institution, just visiting the school, or even simply driving by, may assist in reducing First Day Anxiety.
  10. Especially in the early part of the semester, pay more attention to behaviors than grades.

Of course, many of these suggestions could assist the neurotypical child, as well.

To NEBA or Not to NEBA? That is the ADHD Question.

Sunday, August 7th, 2016

EEGleftThe traditional method of achieving a diagnosis of Attention Deficit – Hyperactivity Disorder has involved reviewing the patient’s clinical history, utilization of a variety of scales and psychological criteria, and the exclusion of other medical problems.

For the past few years, an additional diagnostic tool called the Neuropsychiatric EEG-Based Assessment Aid (NEBA), has become available. It is a specific type of electroencephalogram (EEG) that focuses on certain brain waves associated with children who are diagnosed with ADHD.

Advantages:
1) NEBA can be done in any doctor’s office. The reading is accomplished via computer evaluation of specific brain wave patterns. Results are interpreted by professionals, then transmitted to the practitioner.

2) It is relatively simple for some children, aged 6-18 years, to sit still for ~15 minutes, watching a video or being read to by Mom.

3) The FDA approved test has supporting scientific literature, which adds to validity.

4) It may assist parents who are uncertain about the diagnosis or treatment.

Disadvantages:
1) The cost is ~$450. In South Florida, patients have rarely succeeded in obtaining medical insurance coverage. The company does offer helpful resources.

NEBA 22) There are more than a few patients who cannot sit still while the electrodes are applied and the test is administered.

3) There are experts who feel that NEBA testing is not fully proven, and/or necessary.

4) It doesn’t take the place of a formal EEG, and if a patient has other neurologic signs or symptoms, such as staring spells.

Discussion
All the FAQs about NEBA, plus supporting literature, can be found at their website.

One opposing point of view was offered by the director of the Center for Children and Families at Florida International University. Dr. Pelham asked, “What’s the point? We’re not going to run out and buy one of these machines to do diagnoses, because it is totally unnecessary.”

Clinicians do not purchase the equipment. It is rented at a reasonable cost on a monthly basis. The physician receives a portion of the payment for administration and interpretation.

There are options. A thorough medical evaluation may reveal nutritional deficiencies or gastrointestinal conditions that correct signs and symptoms that are falsely diagnosed as ADHD. Getting sleep under control is essential for proper focus and attention.

In younger patients, patience may provide the best outcome. Certain diets can be quite effective. Supplements, such as 5-HTP, magnesium, and essential oils may provide enough relief.  Mild medications, such as guanfacine (Intuniv®), Vayarin®, or even caffeine, can buy a symptomatic child more time without stronger pharmaceuticals.

Without performing formal testing, a trial of one kind or another of stimulant medication is often attempted. Since there are so many types of meds, in so many different forms, with a wide range of therapeutic dosing, this approach can be hit-or-miss.

Conclusion
Without a more reliable objective test, ADHD remains an elusive condition. Parents often feel better when there is more evidence, especially when exploring the possibility of strong stimulant medications.

NeBa 3As a doctor caring for so many patients who present with this diagnosis, I have appreciated the format in which the results are provided to the pediatrician. Based on the score, we are presented with 3 categories; confirmation, support for further testing, and support for testing other conditions. The clinician and the family then discuss additional evaluation and treatment options.

With caveats, and at a cost, this technology represents an additional opportunity to get more complete information about your child’s development.

Scripting and Autism

Sunday, July 31st, 2016

lettersFrequently accompanying the emergence of language in children with speech apraxia, are parental concerns that easy questions are only repeated back, or that the child merely recites phrases from videos, etc. They wonder, “How can we fix this?” Well, maybe, it doesn’t need to be fixed.

Definition(s)
It is interesting to note that, one meaning of the word, as it relates to autism, is as a treatmentScripting involves presenting learners with a verbal and/or written description about a specific skill or situation that serves as a model for the learner.”

An end-of-the-century research paper described scripting as, “…high rates of delayed echolalia.” A previously desired goal has been the extinction of that form of language, in order to help the patient appear more ‘normal’.

Described by one speech pathologist is the more commonly accepted definition, “Reciting lines from movies, commercials, books, etc. is a common occurrence… Some experts predict it is a coping mechanism that is used during high stress periods, hence, a form of ‘stimming’.”

Amythest Shaber (“Ask an Autistic”) presents her insightful point of view, by describing two types, echolalial and social scripting. The former is referred to as “TV talk”, while the latter represents language that the individual entrains to express their thoughts about an emotional or complicated situation. Both are forms of communication or opportunities for potential socialization.

Cause(s)
Children are exposed to constant prompting and repetition by therapists, teachers and family. It’s natural. This is one reason that siblings are often so helpful, because they seem to be the ones who best understand their brother or sister, without demanding or correcting.

There is frequent exposure to digital media. Often, an affected child may view just one section of a video over and over. Without constraints on the volume or frequency of viewing time, how can they not have these songs or scenes playing in their head?

You won’t see a 28 month old scripting. Children acquiring language in their second year are not able to observe and recall details like an intelligent 4 year-old. The timing of language acquisition is altered and so the patterns are transformed.

It is the manifestation of limited expressive language. If an individual has only 1/3 of the possibilities for output, repeating a phrase 3 times makes up the difference, regardless of the meaning.

Discussion
In Life, Animated, Pulitzer Prize-winning author Ron Suskind, chronicled his success in reaching his son by encouraging this form of communication.

Likewise, the Son-Rise program advises ‘joining’ your child when they display repetitive scripting behaviors, so that they may be more likely to let the parent into their world.

Parents wish to understand whether such a strategy can be generalized to the ‘real world’? At The Child Development Center, we counsel that this is a good start to useful communication, leading to more coherent speech.

Conclusion(s)
Viewed through the lens of a patient who is recovering from ASD with verbal apraxia, scripting (frequently accompanied by echolalia) represents an expected developmental phase.

Taken one step further, communication reduces frustration and inspires confidence. This encourages more contact with the outside world, and maturity. Parents can then believe in their child’s abilities to enjoy a wider variety of experiences.

When scripting is considered in this light, other new strategies, and successful present ones, should be formalized and tested, in order to help the next generation of patients with ASD to achieve their highest potential.

Acetaminophen And Autism

Sunday, July 10th, 2016
tylenol9

A Tylenol® by any other name; including Xumadol, Paracetamol, Tirol, Calpol, Panadol, etc, etc.

Evidence supporting an another pharmaceutical connection to autism was recently presented in a study entitled, Acetaminophen use in pregnancy and neurodevelopment: attention function and autism spectrum symptoms, which appeared in The International Journal of Epidemiology.

Given our current state of ignorance, support, rejection, and often, polarizing opinions have already surfaced.

The Present Study
The authors concluded, “Prenatal acetaminophen exposure was associated with a greater number of autism spectrum symptoms in males and showed adverse effects on attention-related outcomes for both genders…”

Recent Supporting Evidence
2014: Acetaminophen use during pregnancy, behavioral problems, and hyperkinetic disorders
Conclusion – “Maternal acetaminophen use during pregnancy is associated with a higher risk for HKDs and ADHD-like behaviors in children.”

2014: Associations between Acetaminophen Use during Pregnancy and ADHD Symptoms Measured at Ages 7 and 11 Years
Conclusion – These findings strengthen the contention that acetaminophen exposure in pregnancy increases the risk of ADHD-like behaviors.

2013: Prenatal paracetamol exposure and child neurodevelopment: a sibling-controlled cohort
Conclusion – “Children exposed to long-term use of paracetamol during pregnancy had substantially adverse developmental outcomes at 3 years of age.”

Opposing Opinions
2016: Use of acetaminophen (paracetamol) during pregnancy and the risk of autism spectrum disorder in the offspring.
Summary – “… the empirical data are very limited, but whatever empirical data exist do not support the suggestion that the use of acetaminophen during pregnancy increases the risk of autism in the offspring.”

Dr. James Cusack, research director of Autistica, “…insisted there was “not sufficient evidence” to back the suggestion. “The results presented are preliminary in their nature, and so should not concern families or pregnant women.”

The ‘experts’ say, “Don’t even worry about those studies”
claiming a relationship between Autism and Acetaminophen.
Really?
Where is the proof that it’s SAFE?

Discussion
First available in US in the 1950s, Tylenol Elixir for children became even more popular 30 years later when aspirin was reported as a contributing factor to an often fatal Liver – CNS disorder (Reye’s Syndrome). Interestingly, the authors of a 2007 literature review wrote, “The suggestion of a defined cause-effect relationship between aspirin intake and Reye syndrome in children is not supported by sufficient facts.”

Throughout the globe, there are over 100 names for acetaminophen. Plus, it is an ingredient in hundreds of other over-the-counter remedies. It is widespread and readily available. The increased use of this chemical tracks with the explosion of autism into the 21st century.

The medication can cause liver problems and freely crosses the placenta. There are studies that link pretreatment with Tylenol to address fever associated with childhood inoculations, and an increased risk of ASD. Furthermore, the mechanism of action includes the creation of oxidative stress, which is thought to play a significant role in autism.

Conclusion
What about occasional use? The present research concluded, “These associations seem to be dependent on the frequency of exposure.” However, until further investigations are performed, there could be specific times in pregnancy that are more sensitive than others, regardless of the dose.

A single, relatively uncomplicated question – whether there is an association between Tylenol and ASD – needs to be answered. This is but one example of why numerous other substances in our poisoned environment are so difficult to pin down. And, forget about combinations of substances. Why is the establishment so quick to point out the weakness of the present research, and declare that, “Everything is fine?”

Until more information is collected, conservative advice is warranted. Acetaminophen usage in pregnancy should be placed high on the ‘This Deserves Further Study’ list of important autism associations.

July 4th with Developmentally Challenged Children

Friday, July 1st, 2016

July4While the rest of the country eagerly awaits an exciting and fun-filled day, there are some families who will wonder how to get through the celebration. Here are the top 10 reasons why this can be so challenging.

July4 littleThe trip to see the fireworks may present the first hurdle. The closer the venue is to home, the better. There will be less echolalia, as in “Get there?Get there?” And, if you need to return early, it’s a shorter journey.

July4 little otherProblems at The Beach, The Lake, The Mountain, etc. Dangers abound. Children with sensory issues do not necessarily perceive the experience as pleasurable; and families may be hard pressed to convince a reluctant child otherwise.

July4 littleSleep. Even if you can somehow avoid the hoopla, the neighborhood is awash in sights and sounds that can keep everybody going well into the night.

July4 little otherDangerous smoke bombs, sparklers, and other explosive devices. Parents need to remain constantly vigilant, lest their affected child jumps in to join in the ‘fun’.

July4 littleCrowds. Relatives, friends, neighbors, and strangers are present in sometimes overwhelming numbers. Then, there are pets, clowns, and other terrifying distractions.

July4 little otherParades. Waiting in line and jockeying to improve visibility of revelry that the children may not understand – or even look at – sometimes seems pointless and counterproductive.

July4 littleThe heat, mosquitoes, and outdoor environment can create more than the expected amount of whining, complaints, and rashes.

July4 little otherOff schedule activities. Often, children get used to any type of routine – even in the summertime. This becomes another day to explain why “We can’t do… this or that.”

July4 littleThe food. Many parents have to choose between enforcing a restricted diet, or letting a child ‘cheat’, perhaps leading to aggressive behaviors in the ensuing hours and days.

July4 little otherThe Fireworks! Really loud noises and flashing lights that may terrify even neurotypical youngsters. Not fun for all.

Our national holiday is supposed to be a joyous family affair, and is often remembered fondly. Parents hope to pass the experience on to the next generation. In certain circumstances, the atypical child presents novel tribulations – including more than a few that couldn’t have even been imagined.

A Better Approach to Autism and ADHD

Sunday, June 26th, 2016

When faced with the diagnosis of autism or moderate-to-severe attention deficit/hyperactivity disorder, parents have limited choices. Some may be financially out-of-reach, others could be unproven or even risky. It appears that the available options fall into these categories:

question-mark littleNot to treat
Honestly, when the major concern is ADHD in very young patients, this could be the best alternative. Children may simply need time to gain skills, such as self-control and socialization, that come with maturity. Furthermore, if gains can be achieved by holding the child back a grade, or ‘settling’ for a non-gifted classroom, medical intervention may be overkill.

However, if behavior includes repetitive movements and restricted interests, speech delay or social isolation, the sooner that intervention is begun, the better – with or without a formal diagnosis.

The traditional disciplines, including Occupational, Physical, Speech, and Behavioral Therapies, are the proven place to start.

On the medical front, two major approaches have emerged. The protocols are pictured in the diagram below.

Bomb©theautismdoctor

arrow small downTraditional approach – Top Down
Conventional medical treatment involves dropping a pharmaceutical bomb, to see who ‘gets better’ when the dust settles. Parents should be particularly concerned when the neurologist or psychiatrist prescribes potent central nervous system drugs for youngsters under the age of 5.

“What is the specific diagnosis? Has an adequate workup been performed? What are the risks? Won’t these drugs affect my developing toddler’s brain? How long will my child have to take this stuff?” are all valid questions. And, if the medication is unsuccessful, there’s frequently a switch to another one, in no particular scientifically justifiable order.

When the right drug is given to the right patient, it is truly a wonderful thing. However, the success rate, especially with the initial choice, is low. The risks include alterations in sleep, linear growth, appetite and weight change, and increasing negative behaviors. None claim to induce speech, sociability or maturity.

arrow small upModern approach – Bottom up
The biomedical perspective addresses the multiple individual signs and symptoms that affect people on the spectrum. After a thorough history and physical examination, laboratory evaluation of the patient helps identify specific areas that need medical attention.  Then, the safest interventions that are most likely to address aggression, low tone or ‘fog’ are chosen. Often, that may involve improving gastro-intestinal health or nutritional deficiencies.

Enabling mechanisms that unlock a human’s (?) innate ability to speak becomes paramount. Understanding the response to treatment that is displayed by certain behaviors; including aggression, focus, attention, and sleep are tricky, (?) necessary, (?side-) effects of the treatment regime itself.

Discussion
It takes more of the supplements at the bottom of the diagram to achieve apparent symptomatic relief than those dropped from above. Probiotics are ingested to improve the micro-biome and bowel function, proteins enhance mitochondrial efficiency to enable better motor (and oral-motor) functioning, and dietary changes lift the veil. About such a protocol, parents often say, “They got things started.”

As prescriptions ascend toward nuclear intervention, the risks and side effects become more serious, while the improvements are only as observable as the objective of desired behaviors. So, if compliance is the goal, but fails to assist with speech, the parent may be missing a key developmental opportunity.

Conclusion
New parents are forced to make so many critical decisions. Among the bravest are those who seek answers for the tidal wave of Spectrum youngsters. Often, they believe that there is nowhere to turn.

That has forced an increasing number of families to become more knowledgeable than their doctor about autism. This diagram can be helpful for families and health care professionals as they formulate decisions for children with developmental diagnoses.

Happy Fathers Day – An Autism Perspective

Sunday, June 19th, 2016

Dear Dad,

I don’t speak much (or at all), so you might not hear me say how much I appreciate all that you do. Fathers and kids are supposed to be outside and playing together on a day as special as this. I can do that! Maybe I’m not playing catch or kicking the soccer ball, but I’m having a good time.

I might not show as much love or affection as other children, so you may not see me trying to get your attention and praise. But, some of my stims are doing exactly that – getting your attention. I know that you are trying to figure me out, so thanks for being patient.

I sense things in a different way from others so the foods that everyone eats at this time may not be OK for me to eat. Even if they were, that Dr. Udell has taken away all of the good stuff! Someday I hope to tell you that I know how difficult it is to prepare a GF/CF barbecue.

Lots of people can be a problem for me, so ball games or crowded parks are not my favorite place. Thanks for understanding my issues, and taking us to the beach or just playing by the house so I won’t have a meltdown.

I don’t make friends very well and neighbors or even relatives increase my anxiety, so there won’t be a busy household on your special day. Thanks for keeping me safe and helping me work things out at my own pace.

Everyone is fussing around you today, so I know that they think that you are special, too. Somewhere, inside, I am just like every other kid who loves their Dad, even if I’m not sure what day it is.

Love you, Dad,
Your sons and daughters

Thanks to all the Dads of autistic children for your endurance and support.

Happy Father’s Day

Sincerely,
Brian D. Udell MD

 

Practicing Autism Treatment

Sunday, June 12th, 2016

The identification of supplements, medications, or protocols that demonstrate safety and usefulness in each individual patient of a certain age and sex, who exhibits a specific set of signs and symptoms, is certainly the most daunting part of this new practice of Pediatric Special Needs medicine.

This week, we received some great news about two of our patients with significant speech delay. Both have been has been getting treatment at The Child Development Center for ~18-24 months, experiencing significant speech apraxia that has been resolving only very slowly, in spite of the usual alternative protocols.

 5 year-old Harry:
Hello Dr. Udell,
I met Billy’s mom, who also sees you. Also by chance, ironically she goes to the same speech therapy place as Harry. We started talking and she suggested I put Harry on a special diet. I have amazing news to report. I am not sure if it is coincidence, but I put Harry on a very strict Gluten free/Casein free/Soy free/Sugar free diet this past Saturday (6/4) and on 6/7 he started talking!!!! He is mostly repeating when I prompt him, most of the language is prompted and a lot of it is not completely clear, you can make out what he is saying though. Very similar to when a child first starts talking. He has said in excess of 70 new words in the past 2 days, not including words he is repeating!!!! I am so excited. I am not sure if you can review the supplements he is taking and let me know if you want me to change anything?? Do you want me to give more B12 shots?? He is currently taking them twice a week. Now that he is “talking” I am not sure if we should alter anything and wanted your opinion/advice. I am going to stop in shortly to pick up more glutathione so please let me know… His bowel movements are improving/changing as well. Please let me know what you think and I will bring him with me next week when I pick up more supplements and have him say “hi” to you…. literally!!!!

 Thank you so much Dr. Udell!!!
Dr. U
What a great response… honestly, it’s hard to know why, ’cause he didn’t show a significant IgG elevation against those foods..
It’s peculiar that for some, an SCD diet, GAPS diet, or other specific protocol, helps so much and others not at all.
I would just continue whatever you are doing right now without any changes.
Thanks so much for this information.
As long as you do not mind, I plan on using this as a blog – I will, of course, leave the names anonymous… but it would help so many others re-double their efforts.

Mom
Absolutely, and you can use our names, I don’t mind! (anonymity anyway). I am all for helping as many people as I can with whatever information necessary! I am so grateful to you Dr. Udell for all you have helped us with, I know its still a long road but I am more hopeful then ever. Let me know when you would like to see him next. I will see you sometime next week when I stop in to pick u more GSH…..

 7 year-old Bobby:
Hello wanted to share great news. Bobby scored above average in Reading Comprehension and average in Math. He was promoted to first grade with no issues. Next year he will be in a  Gen Ed classroom for 90 minutes, 5 days a week. He will also share specials and events with his Gen Ed class. 

The teachers wrote, “In the past year, Bobby has come such a long way! Beyond our expectations. God is good. First grade, here we come!!!!”
We would like to thank Dr Udell and his wonderful caring team!  We feel blessed!
Dr. U
What great news… Thanks to all your persistence and hard work, as well.
Really appreciate this update.
Regards,

Discussion
Autism recovery is a marathon, not a sprint. Parents are sometimes quite frustrated when they observe only a fraction of the improvement that they had expected, after only 3 or 4 visits over 6 or 9 months.

Those who discontinue modern alternative autism treatments, delivered by a trained, experienced medical practitioner, are relinquishing valuable time and opportunities for improvement.

Conclusion
The time that it takes to demonstrate improvement varies greatly from patient to patient. Often, the real miracles are the ones that percolate, not the occasional ‘great responder’ who gets better after one or two treatments (as seen on YouTube, of course).

When asked about which intervention generated the most improvement, many parents declare, “Im not sure what made my child better. It was a combination of the doctor and all of the various therapies.”

As long as medical intervention is affordable, safe, and effective, being part of the team that leads to improvement provides more than enough encouragement to continue the fight.

The Importance of Genetic Testing for Autism

Sunday, June 5th, 2016

Although ASD patients share common signs, such as speech apraxia, repetitive behaviors, and social isolation, the wide range of differences in their personalities and abilities demands exploration, as well. The answers will require a better understanding of our genes, which are the most basic building blocks of structure, function, and subsequent behaviors.

Copy Number Variation (CNV)
It’s 2016. The human genome has been mapped, and is even available online. During fetal early infant development, as cells divide and grow, tiny pieces of a chromosome may be missing, duplicated, inverted or transposed.

Genes exist on chromosomes, so variations in the ‘normal’ pattern, could certainly explain alterations in development. Abnormalities help identify susceptible individuals in our toxic environment.

A ‘chromosomal microarray’ test has frequently been part of the work-up for autism, as doctors searched for ‘Fragile X’ syndrome, which had been believed to be the most common genetic cause. That is old-fashioned thinking, and problems with the other 45 chromosomes are ubiquitous. If your child has had this ‘lab’ in the past, have it reviewed by a competent, modern genetic expert. If the child hasn’t had one, it is the best initial evaluation, and much more likely to yield useful information than an MRI or EEG.

GeneGene Testing
This represents an analysis of sections on chromosomes that code for specific products. There now exists the technology to identify many possible gene candidates for autism, with more appearing every year. Results serve as state-of-the-art information to identify certain patients who have significant deviations from typical development.

This examination can be particularly important with the 20% – to – 60+% of cases of ASD associated with some type of convulsion. Patients are often diagnosed with idiopathic epilepsy, which is merely doctor-speak for seizures of unknown origin.

The high cost of such laboratory examinations precludes routine use. However, companies are aware of such limitations, and seem to do a good job of assisting families overcome this obstacle, especially in those patients who demonstrate extreme problems.

MTHFRSingle Nucleotide Polymorphisms (SNPs or ‘snips’)
At an even more granular level are regional changes within genes. Such chemical variations are common in the population and can explain individual differences. Even a single alteration in the composition of DNA may explain why one person is able to detoxify while another is not. It even becomes more complicated as we examine how changes in one area affect expression in another region.

A common example in autism is the variation that occurs in the MTHFR genes that code for the enzyme that activates folic acid (to tetra-hydro-methyl-folate). This is one of the few useful ASD findings from the popular test, 23&me.

Discussion – What good is this information?
Even today, results can detect situations in which potential treatments and avoidance of unnecessary pursuits are elucidated. The polarizing questions of whether/when/who/which vaccinations could effect the incidence of autism might even be more clearly understood, from this point of view.

The additional knowledge from such testing yields more information about future development, including risks of other conditions, such as thyroid, heart disease or cancer.

In extreme cases, the information may help guide decisions about future offspring or screening of other family members.

Importantly, the lack of a measurable abnormality may motivate a family to attempt conventional and alternative treatments with even more vigor.

Conclusions
We cannot let the insurance companies slide on this one. They are the ones who stand to save the most; although at present they see no tangible reduction, because they aren’t adequately paying for necessary services in the first place.

Rather than give up hope, such additional information should provide even more incentive to explore treatment for ASD patients.

Our better understanding will lead to more targeted and therefore effective protocols for this modern epidemic.

Addendum:
9/16 – Genome-wide characterization of genetic and functional dysregulation in autism spectrum disorder

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Brian D. Udell MD
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