Medical Aficionado

Looks like Chinese researchers had no red tape to cut setting up an experiment that could easily be characterized as unethical. Western researchers don’t have that privilege.

To find a better animal model of autism, Chinese researchers generated monkeys that “overexpress” the human gene, known as MECP2. In humans, having too much MECP2 leads to a condition called MECP2 duplication syndrome, which shares core symptoms with autism spectrum disorder.

The research team injected macaque monkey eggs with a virus carrying MECP2. Once fertilized, the resulting embryos were transferred to surrogate monkeys, yielding eight live births. All of the monkeys carried the human gene.

While the monkeys’ mental abilities appeared largely normal, their behaviors did not. Normally, monkeys sit together and groom each other, but the transgenic monkeys in the study were less socially engaged. They also moved about more frequently in repetitive, circular motions. And, they exhibited increased levels of anxiety when faced by a human, as if they were “trying to defend their territory more,” Qiu said.

Ref: http://www.cbsnews.com/news/can-monkeys-help-unravel-the-mysteries-of-autism/

As long as the full data set is made public to the community, I’m not going to criticize or judge.

One of my good friends and fellow Harvard alumni is an internist and part time champion of rare disease prevention and awareness. For those not in medical field, an internist is a internal medicine physician (read more) with a strong focus on diagnosis. Ohhh proper diagnosis, how rare it is!

Aaron’s been helping me lately with contacting medical centers to learn more about their procedures for detecting and diagnosing autism in patients. Obviously without someone on the inside, this is a futile pursuit. We basically contacted any clinics hiring IM physicians in several states using job listing sites (Florida, California, Massachusetts, Chicago, New York, Texas, Pennsylvania) and were able to find someone willing to talk to Aaron based on his credentials and existing connections. I fielded the questions and took notes and will be thinking through my follow up writing ideas to address others in the autism community.

The life of an internist is a highly engaging hustle and bustle. I’m glad I have someone to ping thoughts and ideas off of, thanks Aaron.

I ran across this dated article today on Medscape and was surprised by the optimism it presented to the Primary Care setting. Hoping that ASD screening could be fully integrated into a Family Medicine, Family Practice, or Internal Medicine role was a noble but impractical objective. There exists a continued growing rise of hospital medicine needs with more and more primary care physicians choosing to enter that role because the job market is exploding, leaving little pressure to expand the scope of those medical specialties. The field of medicine needs FM, FP and IM physicians more than ever and compelling them to take on more adjunct industry knowledge must wait until the field stabilizes, if it ever does.

I thought I’d outline the four most common career routes to a medical profession working with autistic children.

Speech-Language Pathologist
Since language and communication hardships are two primary aspects of the autism spectrum disorder, individuals with this specialty training are in high demand in the clinical setting. Speech-language pathologists work with children to improve their motor speech and lessen their cognitive-communication delays. These professionals usually have a master’s or doctoral degree in speech-language pathology.

If you are curious about your potential compensation, you can always browse data on the Bureau of Labor Statistics or just search for current related job postings on MedWorking.com.

Applied Behavior Analyst
Less affectionately known as “behavior modification”, this practice designs systems of interactive backed with positive reinforcement. This is the most common method of behavioral treatment for autistic children. To enter this specialty you’ll want to become a licensed clinical psychologist or achieve a doctoral degree in behavior analysis. Board certification would also be required here.

Occupational Therapist
In this medical specialty we take a step back from direct behavior analysis and look at how an individual relates to their environment. An occupational therapist’s primary goal is to help people feel and live independently. Obviously this is a hugely necessary part of treating autism. A master’s or doctoral degree in occupational therapy is required.

Educator of Special Needs
For those wanting a more fast-track path to a career, consider a non-medical setting. A special education teacher is trained to assist children with a vast array of learning disabilities. Your workplace will almost always be a public or private school. A BA or BS in special education is all you need here.

Very intriguing study on the effects of a Ketogenic diet on autistic children.

“Overall the 18 ketogenic kids presented with improvements in their social behavior and interactions, speech, cooperation, stereotypy, and… hyperactivity, which contributed significantly to their improvement in learning.”

http://www.psychologytoday.com/blog/evolutionary-psychiatry/201104/autism-and-ketogenic-diets

I think mainstream research into Ketogenic diets spiked a bit after the release of ‘The 4-Hour Body’ by Timothy Ferris.

As of May 2013, a new definition of autism will be used by scientists in order to more precisely diagnose kids with the brain disorder. As a result, the diagnosis of Asperger’s syndrome, considered a “higher functioning” form of autism, will disappear. This is a win for all people involved in the cause of educating, treating, and creating awareness of autism. On a high level the terms become simpler to communicate, while simultaneously freeing medical practitioners from the binding division that Asperger’s caused. “There was so much confusion of who had Asperger’s and who didn’t. We were also concerned that there were kids being denied services because Asperger’s sounds like a better diagnosis.” said Dr. Catherine Lord, director of the Center for Autism and the Developing Brain. There is no biological or genetic reason why Asperger’s should be separated on its own. The intent is to ensure that people with Asperger’s receive the same needed interventions and services as those with an autism diagnosis.

Side note: Also being swallowed up into the autism spectrum is Pervasive Developmental Disorder, a term used to classify some developmental issues, including the inability to socialize.

I’m encouraged to see a growing interest in treating and at least understanding autism amongst hospitalists. These hospital medicine physicians are stretched pretty thin as is, what with having to care for all types of hospitalized patients. So it’s understandable if their clinical attention may not have the mental room for high levels of engagement with autistic patients. In particular I’m hearing pediatric hospitalist are taking charge and swallowing the fact that autism rates are on the rise and treating these patients does require much more time and training. Randall Children’s Hospital in Portland states clearly in their job posting positions that pediatric hospitalists will “see a broad range of developmental disorders including autism and intellectual disabilities.” Many other hospitals appear to have at least one hospitalist as the “go to guy” to meet with autistic patients. And the other resident hospital medicine professionals are showing great interest in picking the brain of these local leaders. Can we say job security? 🙂

Ref:
http://www.hospitalmedicine.org/AM/Template.cfm?Section=Hospitalist_Definition&Template=/CM/HTMLDisplay.cfm&ContentID=24835

http://www.allhospitalistpositions.com/

http://www.legacyhealth.org/employment

Why is autism considered a disease and not merely a condition of looking at and experiencing the world differently? The responsibilities of modern society have forced us to coin the terms “high functioning” and “low functioning” autism. These two extremes represent the endpoints on a spectrum defined by how well a person functions in society and handles personal responsibilities. While this may be necessary in order to ensure care and safety as well as provide a fair basis of accountability to laws (for example, what constitutes disorderly conduct for a low functioning autistic person?), it should not justify such a strong pathological insinuation that these individuals must be labeled “diseased”.

It’s my personal belief that our failure or inability to feel comfortable with celebrating autism is partially the fault of intelligence testing. IQ testing in general is tough because no one can define what intelligence is to begin with. So how do you test that which you cannot define? What would Mozart’s IQ have been? How about Shakespeare’s?  If my IQ tested higher than J.K. Rowling’s does that mean I could potentially be a better writer than her? Of course not, such an interpretation is so ridiculous yet unfortunately not so distance from public thought. We’ve glorified an integer, summed up all human potential into an easily boasted rank. Okay, enough of this mini-rant. Now then, autistic people in general do not test well. In order to begin seeing their mental capacity in a new light, we need to “test” them at young ages in ways that can reveal multiple types of intelligence. So what types of intelligence are there? For that I’ll leave you with a direct text from ‘Embracing the Wide Sky’:

Linguistic intelligence: involving both spoken and written language, the ability to learn languages, and the capacity to use language to achieve certain goals. Examples: writers, poets, lawyers, and speakers.

Logical-mathematical intelligence: the capacity to analyze problems, perform mathematical operations, and investigate issues scientifically. Examples: scientists, engineers, and mathematicians.

Musical intelligence: skill in the performance, composition, and appreciation of musical patterns. Musicians of all kinds are obvious examples of this intelligence.

Bodily-kinesthetic intelligence: using parts or the whole of one’s body to solve problems. Examples: athletes, actors, and dancers.

Spatial intelligence: includes having a very good sense of direction, as well as the ability to visualize and mentally manipulate objects. Examples: artists, architects, and engineers.

Interpersonal intelligence: the capacity to understand the feelings, intentions, and motivations of other people. Examples: salespeople, politicians, and therapists.

Intrapersonal intelligence: the ability to understand oneself, one’s feelings, goals, and motivations. Examples: philosophers, psychologists, and theologians.

Naturalistic intelligence: the ability to draw upon certain features of the environment, to grow and nurture new things, and to have a facility for interacting with animals. Examples: farmers, gardeners, and conservationists.

Meet Daniel Tammet, a British writer and educator who possesses an extremely rare form of high-functioning autism. Daniel suffered a life-threatening seizure at a young age that resulted in a mixture of his brain functions – parts of the brain that normally function separately, for him became intertwined and codependent. So what is the observable result of this? One of Daniel’s most publicized feats is memorizing Pi to over 22,000 decimal places in just a couple of weeks. It took him 5 hours to recite the full length of the digits he stored in his memory and he never made even one mistake.

I’m currently reading his latest book ‘Embracing the Wide Sky’ which has successfully helped me locate some of my own deep seated presuppositions about learning and the natural world in general. Daniel sincerely believes his mental gifts are not reserved only for savants and even prefers that he not be “removed from humanity” by being viewed in such a way. He devotes a great deal of time to expressing his admiration of a child’s brain, believing that the key to unlocking our own brain’s potential is through a long process of unlearning and deprogramming.

Please watch Daniel’s five minute introduction to his book: http://www.youtube.com/watch?v=fIDMCC2SJek

I will post updates after I finish reading this great work.

-Ramesh