Autism in the Adult Q and A Episode: Autism and the Physical Body
Join Dr. Regan for an episode in which she answers listener questions related to autism and the physical body. Topics include genetics, brain pathways and neurology, nature versus nurture, medications, and nutrition/diet.
Neurogenetics: Smith-Magenis Syndrome
Dr. Regan's Resources
New Course for Clinicians: ASD Differential Diagnoses and Associated Characteristics
Book: Understanding Autism in Adults and Aging Adults, 2nd ed
Book: Understanding Autistic Behaviors
Autism in the Adult website homepage
Website Resources for Clinicians
Read the Transcript:
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Hello and thanks for joining me.
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This is Dr Theresa Regan welcoming you to the podcast,
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autism in the adult.
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I am a neuropsychologist,
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a certified autism specialist.
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The director of an autism diagnostic clinic for adolescents,
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adults and aging.
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Adults in Illinois and the parent of a teen on the spectrum.
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Last episode I invited listeners to write in questions they would like me to field in a question and answer podcast.
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So what I've done is that I have gone through and tried to group some of the questions into related categories and I won't get to all of the questions in this episode.
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But I am going to focus on several questions today that have to do with autism and the physical body.
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So we're going to review things like genetics,
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neuro anatomy and the physical brain in autism.
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We're also going to talk about things like nutrition and diet and other physical aspects,
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things that may impact the individual on the spectrum.
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Let's take the topic of genetics First.
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A recent article about the genetics of autism found that at least 80 percent of the likelihood that someone will have autism neurology is driven by the genetic code and it's the code that impacts the development of the neurology within that individual.
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So,
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the neurology includes of course the brain and its nuclei and its pathways,
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genetics includes code,
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parts that are inherited that is,
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there are some families with autism characteristics across multiple family members.
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Some members may not have any characteristics,
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some may have a clustering of autistic characteristics,
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but not a formal diagnosis.
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They don't meet full threshold for the diagnosis and others will meet full threshold.
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So for some people who are diagnosed with autism,
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they can see characteristics,
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qualities of this neurology and various family members,
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genetics also includes possible alterations in the code during development.
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So it can also mean that the genetics were not inherited,
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but that there were some unexpected alterations of the code as the brain and the nervous system were developing.
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That brings forth this autistic neurology and it is not as simple as saying that someone has the gene and someone does not.
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This is a hugely complex Condition that is a reflection of at least 200 likely many more genetic contributions.
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So that can be part of why we see autism on a spectrum that a certain clustering of genetics may produce certain characteristics,
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while another clustering may produce others,
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we just don't know,
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we're not at the point where we have all of that nailed down,
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but what we do know is that genetics plays a role in the development of the nervous system and specifically in the development of the neurology associated with autism.
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Also,
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autism may co occur with other physical conditions that are related to genetics.
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They're related to development.
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Um,
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as guided by the genetic code.
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So,
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for example,
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some individuals have a difference in the way their heart was formed or the kidneys or their palate,
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like a cleft palate.
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Also in some Children who have childhood cancers,
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there's some association with a genetic difference,
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that something in the code has been different and is related to the triggering of this cancer.
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What that can mean is that for people with a heart difference,
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for example,
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that is congenital,
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this is something that happened during development.
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It has been there since birth.
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There can be an increased presence of also a typical neurology that these things that have developed around the same time or secondary to similar parts of the genetic code can co occur.
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So,
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research shows,
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for example,
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that about 30% of individuals with some developmental heart conditions are also on the autism spectrum,
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because various organ systems can be impacted by the code during development.
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The other 20% of the variants that was not assigned to genetics in the research study.
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So,
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if we're saying 80% is driven by genetics,
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the other 20% my understanding is that it includes all of the measurement error.
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So that is kind of um,
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statistical artifact.
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It's just variants that doesn't actually um relate to a causative factor and it can also include things in the environment,
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which can include physical things as well.
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So,
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there have been theories that perhaps for some people,
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um,
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a virus might interact with the genetics or for some people,
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um,
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some type of substance in the environment may trigger uh differences in the way that the neurology has developed.
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So The 20% is not well defined in in very specific ways.
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But the statistics do help us understand the prominence of a genetic factor here and that's one of the reasons that a correct diagnosis of autism can be so important because we see what the foundation of a behavioral pattern might be.
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And at its very base we're trying to distinguish and to figure out whether a behavioral pattern is neurologic or whether it falls into what we more traditionally call a mental health diagnosis.
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And I know that there,
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you know,
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as imprecision and how we might separate neurology from mental health.
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But let's consider an example of mental health as PTSD,
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that we could put that we could put depression into a more traditional mental health category in order to demonstrate why it makes a difference to know if a behavioral pattern is neurologic versus traditionally mental health,
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let's consider a different example,
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let's say that two separate clients go to a psychology appointment for the same concern.
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They both have memory concerns.
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Let's suppose that one client has an evaluation of memory and the psychologist concludes that the profile is very classic for an alzheimer's dementia,
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a very clear neurologic factor that's impacting memory.
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The second client who has the same concern undergoes an evaluation and this person is found to have memory loss due to disassociative episodes secondary to trauma.
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So this is a person who has experienced such significant life trauma that their brain kind of goes offline for periods of time in order to protect the person from re experiencing the trauma.
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But this is not a physically based memory issue.
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This is based in the psychology of trauma.
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So even though they're presenting for the same experience and concern,
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one is clearly in the neurologic domain and one is clearly in the mental health domain.
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Now the implications of that are really important.
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So one is that doing talk therapy with a patient with Alzheimer's or telling them that remembering things is very important and they should do so talking through past histories of relationships or trauma or doing E.
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M.
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D.
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R.
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For trauma,
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reminding them that it's safe to remember.
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These aren't going to be effective as far as improving that person's memory but these approaches as part of psychotherapy for the a person who does have disassociative episodes secondary to trauma,
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these might really be effective.
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So it helps us understand what's likely to be effective and choose um something that's likely to be helpful rather than something that's really not going to change the symptoms because we're not going to change that neurologic base.
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Now,
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one individual asked me to highlight in a bit more detail what parts of the brain are involved in autism and first I'll state that there's really nobody that can outline everything about the neurology of autism at this point.
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There are just so many things to understand from genetics,
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cellular mechanics,
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biochemistry,
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physiological issues.
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There's lots of nuclei and pathways in the brain.
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And even in the area of genetics.
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As I said,
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there are hundreds of possible genes involved and the genetics in one individual,
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the neurology of one individual.
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The biochemistry of one individual is likely to be somewhat different than that and another individual.
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However,
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in broad strokes,
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a lot of the characteristics have to do with the nuclei and the pathways in the center of the brain.
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And this area is called the sub cortical area of the brain,
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sub meaning under and cortex meaning the outer layer.
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In addition to the center of the brain,
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the frontal lobes are also densely connected to the sub cortical pathways and these areas are also uh involved with things that are seen on the autism spectrum.
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Now this is extremely simplistic,
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but it is a place to start in understanding that the sub cortical nuclei in pathways uh and the dense connections to the front of the brain.
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The functions that are impacted by these areas include things like executive function,
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which everyone on the spectrum will have some difficulty with the ability to start, maintain, and complete behaviors.
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Whether that's talking tours tasks,
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the ability to switch gears to handle interruptions to deal with,
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change,
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the ability to show flexibility to think abstractly as opposed to categorically or literally the whole issue of repetition is very key in this part of the brain repetition of speech movements,
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rituals behavior patterns.
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These sub cortical areas are really involved in that kind of repetition,
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motor coordination sequencing.
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There's a lot that goes on in the support sub cortical nuclei with that attention to detail versus seeing the big picture,
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knowing what is most and least important,
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etcetera.
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So there are a lot of the behavioral features seen in the autism neurology that are features having to do with those pathways and those nuclei.
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Now,
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other characteristics of the autism spectrum likely have to do with inter plays between the cortex,
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the outside of the brain and the sub cortical areas,
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the inside things like social communication,
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relationships,
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sensory processing.
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So really when we're talking about the neurology of autism in broad strokes,
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it has a lot to do with the dense connections in the middle of the brain and the front of the brain as well as interplay between more complex areas of the cortex.
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Now that genetics and neurology are being understood at a much deeper level.
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There is a field called behavioral genetics and it's really interesting and I was able to take genetics in my undergrad and then I took behavioral genetics through an online course at University of Minnesota.
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That was also very interesting.
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This was a free online course and really gave me a nice flavor of the types of research that is evolving in this area.
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I've also gotten to read multiple articles and I've seen patients with various genetic differences and one thing that we're seeing is that patients who had a genetic profile done 10 years ago and they didn't find anything different or unexpected.
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You know,
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those same patients are going back to have the genetic code redone and they're seeing these,
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um,
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uh,
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these smaller kinds of micro deletions,
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micro additions,
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so much at a much smaller scale and more detailed scale.
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We're able to see some differences in the genetic code.
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Now,
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the genotype,
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if you hear that term is the code itself in the phenotype is the expression of the code.
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Uh,
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so the phenotype could be eye color or height or hair color.
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And sometimes we talk about phenotype as relates to autism.
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So,
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there are behavioral phenotypes of various genetic conditions or states or combinations of code.
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So,
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the that's basically a complex way of saying that this code does impact this expression of behavior in an individual sometimes for someone who does not meet full criteria for autism,
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but they have characteristics.
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Someone might refer to that as the broader autistic phenotype.
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That just means that there are these expressions there of neurology that are important to understand,
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but the person doesn't meet full criteria for a diagnosis.
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So that's the broader autistic phenotype.
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one of the interesting lines of research is starting to connect repetitive stereotyped behaviors with genetic codes and repetitive stereotyped behaviors is one of the criteria that may be met within autism,
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although it's not required,
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but it is a common um,
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neurologic expression,
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a com common phenotype.
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Ipic expression of the neurology and some people are concerned about the word stereotyped because they feel that it might be a disparaging comment about the autistic individual.
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Um actually,
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stereotyped behaviors are seen all across neurologic states and conditions and they're seen in some conditions,
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but not others.
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So someone with a traumatic brain injury or a stroke is not likely to show stereotyped behaviors,
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but individuals with dementia can start to show these individuals with different genetic or developmental conditions.
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I've seen these um expressions of neurology and people who have had infectious disease or autoimmune kinds of responses to an infection.
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And so it is just a standard neurologic term.
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A stereotyped behavior um,
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is expressed in a similar way every time,
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even though the environment or the context of the behavior changes.
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And so the behavior is not specific to the context,
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It's not required by the context.
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It may be soothing to the individual.
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It may be something the person doesn't even notice,
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but it is the same each time.
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It's the stereotyped replica.
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We could call it a repetitive, replica behavior and you might see that within autism in regards to movement what people say.
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So,
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verbalization is whether that's echoing or repeating words or phrases.
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And you can also see stereotyped use of objects.
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That's where you'll uh kind of see when a youngster might line up their toys or an adult may keep a coin in their pocket that they flip back and forth between two of their fingers.
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This kind of stereotyped repetition.
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This replica um of the behavior,
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it may be soothing to the person,
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or again they may not notice it.
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I've had patients recently who have tongue movements or tongue kind of um curling behaviors that they don't even notice.
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And so it could occur either way,
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but it's neurologically driven.
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If you ask the person to stop it,
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they can stop it in the moment but it will just recur and that is common in neurology.
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So if we think about um you know,
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if I ask you to stop breathing,
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you can stop breathing but it's going to then kick in,
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it's going to recur ... an example in neurology is in Parkinson's disease.
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Part of what you see is changes in the step pattern,
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the gait pattern of walking.
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And you'll start to see neurologically very small shuffling steps.
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That's really classic for a Parkinsonian gait and if you tell the person to lift their feet they can do that.
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Um And you know that's what a physical therapist will say now remember to lift your feet.
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Um But when the therapist isn't there,
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they just and they don't have that verbal cue,
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their brain goes back to their default,
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which is this um just shuffling gait pattern that's neurologic.
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So like other neurologic things.
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These are behaviors that repeat.
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Um but can be suppressed in the moment.
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One of the super interesting things that amazes even me is that genetic studies are starting to link stereotyped behaviors to certain genetic differences.
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And this is not a 1-1 correlation where someone with this genetic difference always does this stereotyped behavior.
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But sometimes it really is astonishing how connected the code in this particular chromosome is to a behavioral pattern.
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I'm going to link in the show notes um a website from the U.
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K.
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That talks about neuro genetic conditions and they're talking about smith magnus syndrome,
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which is a genetic difference that causes the neurology to develop differently.
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And one of the things that's interesting about this condition is that there are a few stereotyped behaviors that could easily go unnoticed at first at least.
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But that um really are very common in people with this genetic pattern.
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And one of these is self hugging.
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So the individual will hug themselves many times in response to being happy about something in the same way that someone could have hand flapping in response to being excited or happy.
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And at first the self hugging is just delightful in these kids.
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But you know,
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as they grow older and as this behavior is repeated without specific context,
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like it starts to look really unusual.
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And indeed it is a repetitive stereotyped behavior that is related to the genetic code.
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The other stereotype that's very common within this genetic pattern is called lick and flip.
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And this happens when the individual licks their hand or their fingers and then uses it to rapidly turn pages in a book,
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lick and flip stereotype.
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And again,
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it looks delightful in a little kid and they'll say,
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oh this person loves reading,
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but actually they're not reading.
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And turning the pages isn't functional,
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but it's a repetitive stereotyped behavior,
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it's neurologic and it's related to the genetic code.
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So what do I want you to walk away from this information with?
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I don't want you to worry about the terminology,
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the statistics.
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What I would like you to take away is this understanding that there is a physical base for our neurology and that is what is the base of the autistic behavioral pattern and that this physical base is related to the genetic code in some way.
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This does not mean that everyone is an automaton.
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Um but I think the value of thinking about the physical aspects of behavior is that it balances out our understanding of a very complex interplay between nature,
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the physical form of the brain and nurture,
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which is our experience in the world,
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and the truth lies in the complexity of the interplay of both.
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But what we tend to do as humans is think in these categorical ways and in our culture,
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we lean very heavily on the nurture point of view,
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at least in this time,
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this generation,
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where um you know,
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it really strikes home to me sometimes when um I was recently traveling and I got to walk through high school and there's all these posters up and you know what I'm talking about,
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they say things like the sky is the limit, reach for the stars.
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The only limit you have is how you limit yourself.
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And if you can dream it,
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you can achieve it.
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So we love that individualistic,
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empowered framework.
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It appeals to this um part of ourselves that does want to be able to make our way,
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I don't want to have limitation,
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I really want to be able to achieve anything if I apply myself hard enough.
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However,
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it's actually not one or the other,
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it's not all effort and it's not all fatalistic that everything is determined,
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it's not that simplistic,
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you know,
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it's not as simplistic as thinking that all we need to do is try hard enough,
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nor is it as simplistic as thinking that there's nothing we can do because our neurology dictates everything.
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It's very hard to hold the complexity of the truth in our minds and as humans,
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we love to be able to take aside or categorize opinions and even when we try to stay centered in the complexity,
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we often slide from one side to the other no matter what the topic,
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but to be able to hold complexity in our minds about something most often is what we need in order to be in the most truth.
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We should feel empowered to work hard because we can influence the outcome of our lives,
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but we should also feel grounded in the fact that there are going to be things that we just can't change.
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And someone pointing out that we have limitations.
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That's not a criticism.
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You know,
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we all have set limitations as a function of being human and my limitations are not the same as yours and vice versa,
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But we can't be 10 ft tall if we try hard enough.
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And the person who is blind cannot see if they try hard enough.
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And the person who wants to live to be 400 isn't going to be able to achieve that with just good attitude and high effort or commitment.
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So this brings me to another topic mentioned in the Q and A emails,
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which is the topic of whether autism is all good.
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That is ... is autism a wonderful reflection of diversity that should always be celebrated or is autism all bad?
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The diagnosis is stigmatizing and limiting and it's something to hide or be ashamed of and it represents something that must be fixed.
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I think it's really easy to find people on each side of this topic.
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But again,
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the truth is in the complexity and I want to invite you to dive back into complexity and be able to live there.
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Every individual whether they're on the spectrum or not has great deep inherent value as a person being on the spectrum or you're neurotypical does not change any of that.
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Every person,
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whether on the spectrum or not has gifts and strengths and can bless people around them.
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Every individual,
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whether on the spectrum or not has limitations,
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challenges and struggles and we need to allow there to be gift and challenge in every autistic individual rather than needing it to be all good or trying to convince people that it's all bad.
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One of the blessings of knowing that there's autism,
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neurology is just understanding the context for this person's strengths and challenges and being able to tap into our understanding of that and also a direction that might be most helpful when things are a challenge.
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I'm going to switch gears just a moment to a few other physical questions I received about the spectrum and then we're going to close up and we'll talk about next episode.
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So one of the questions I was asked is about medication.
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Um and I'll just give a general general kind of summary of medication in autism.
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One of the things to know is that there are often four categories if someone is taking a medication.
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Um it's often within these four categories Of difficulty.
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So one would be attention.
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Another category of difficulty that someone may take a medication or supplement for is sleep,
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that sleep onset is often very difficult or just getting enough sleep.
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Another category is anxiety,
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which is often very prevalent on the spectrum and also depression that goes along with.
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Um,
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some of life experiences and the fourth category has to do with agitation,
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irritability or explosiveness.
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Not everyone on the spectrum benefits from medication,
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but it often can be for some people,
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a nice layer of support in one or more of these areas.
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However,
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medication on the spectrum does not uh show itself as effective um for these challenges as for people who are,
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you're a typical and taking the medication and the reason for that is that it doesn't change the neurologic connectivity that has developed in the nervous system,
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but it can offer a layer of support that the person didn't have before.
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But let's say someone has anxiety related to the autism neurology and another person has anxiety related to something else.
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They don't have autism neurology medications likely to work better for that second person.
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The reason that's important to know is just that sometimes people are,
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are determined to go on a quest to find um this really effective combination of medications that will make things a lot easier and that's not the typical outcome that you'll have.
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Now,
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the medications that are used for autism a lot of times that's not going to change just because you have a diagnosis and the reason for that is that,
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um,
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you know,
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it's symptom based,
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so the medications would be prescribed based on your symptoms,
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not based on your diagnosis,
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but the expected outcome is different if,
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you know,
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that you have autistic neurology and there are sometimes um side effects that can be more common on the spectrum.
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So if you're taking attention medication,
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you may have increased anxiety or some repetitive movements or ticks at a higher rate than someone else.
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Another question was about whether marijuana improved social function or other aspects of functioning for the autistic individual.
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Um,
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my experience and my understanding from the literature and what I've seen with patients and clients is that whether someone's taking CBD oil or smoking marijuana,
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um,
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I just find people responding differently.
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So I have clients that tell me it's extremely helpful and I have clients that tell me it's actually very upsetting and they don't care for it at all.
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And I have clients feel like it really just doesn't doesn't do anything for them.
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So that ends up being kind of an individualized thing that you would discuss with your medical team and your physicians there are studies looking at compounds um from other substances just to see if they can be used um to help even out the anxiety or to help with social interaction.
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Those are really just in a very experimental stages,
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sometimes not even with humans.
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And so I don't know what the outcome will be,
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but everyone's hoping that over time,
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as we understand the neurology better,
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uh we can have some more things to help people who are struggling with some of those characteristics or seasons of life in the final physical question that I was asked has to do with autism and diet.
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And um,
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there is a particular diet out there.
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The gluten free and casein free... casein is a milk protein.
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Um,
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if you've heard of lactose,
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that's actually a milk sugar.
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But typically people find that gluten which is also a protein and casein,
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These are the things that some people will target in their diet by removing them.
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Um,
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and there's not a lot of research support for that.
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However,
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I will say that in our home,
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my son had really extreme difficulties with sleep and colic,
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um,
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which is just a lot of crying and discomfort.
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I was very overwhelmed.
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I had tried lots of things.
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Somebody said I should try this diet.
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I was overwhelmed with the prospect of having to learn a whole new diet and eliminate a bunch of things.
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Um,
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at 18 months,
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I just felt like I had no other choice.
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I really,
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uh,
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I had nothing left to try and I said,
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I'm just going to try this for one month and then I'm not even going to think beyond that because the thought of doing it forever.
390
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Just felt overwhelming.
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So,
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um,
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I did do that.
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And within 2.5 weeks he was,
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um,
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well ever since infancy,
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he took a 20 minute nap twice a day and that's it.
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And he would wake up like five times a night.
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Um,
400
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2 1/2 weeks after the diet began,
401
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he started taking an hour and a half nap,
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sometimes up to three hours.
403
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Uh and believe me,
404
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we had tried everything before and did nothing different except the diet change.
405
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Um He stayed gluten free and casein free um until really just recently in his high school years and now he seems to do okay with without that elimination.
406
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So he is eating gluten and casein now having said that um it is something that you need to um do in conjunction with your medical team being aware so that your child and get enough nutrients and won't be missing out on calcium or other things that dairy might provide or gluten gluten products.
407
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Also,
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what really seems to be true is that many people do not respond to this at all.
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They don't get any benefit from it.
410
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And um I don't know why,
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I just think it's a very individual kind of response.
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So um you know,
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if you feel and you've talked to your doctors and medical team that a trial isn't going to harm anyone's health,
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you can try that.
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Um On the other hand,
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I have not seen adults try it to be honest.
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I really don't know if adults who try it for the first time as an adult would feel benefit.
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Um but that has been my experience with that particular diet.
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Other kinds of diets.
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You can find lots um Bill,
421
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a lot of them are kind of focusing on being healthy.
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So people will take out things like artificial colors or flavors.
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There are other kinds of diets.
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There's just too many to list off other approaches really talk about decreasing sugar.
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Um,
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getting good protein.
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Um,
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so that's a whole um,
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a whole broad journey that you can take if you desire.
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And I know some people who have really benefited from that and I know other people who have tried really,
431
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really hard and just haven't found uh,
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what might help help them feel a little bit better.
433
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So I want to say thank you for the question and answer emails you sent to adult and geriatric autism at gmail dot com.
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And thank you for giving me these ideas for a session here about autism and the physical body,
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the physical condition.
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Next episode,
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I'll be formulating some other themes about emails I received.
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For example,
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I received some questions about parenting,
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some questions about autism in the workplace and more.
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I'll see you then.