Autism and genetics

Genes account for 80-90% of autism.

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Originally published in 2014, translated and updated in 2018

 

Several studies have shown autism is highly heritable, with genetic factors explaining around 80-90% of the autism prevalence in the human population. That is incredibly high. Such high heritability, however, does not rule out possible effects from multiple factors in the environment. The final “autism profile,” so to speak, will depend on the genes present and how they interact with each other, when they are “on,” for how long, and a variety of other factors.

When Marisol was diagnosed, I started reading about autism, and one of the topics I studied was precisely the genetics of autism. One of my first thoughts was that a) it could not be a simple dominant gene, because there would be way many more autistic people in any given family; b) my hunch was that it was not a single gen, because of the complexity of the trait (autism). And yes, afterward I read that there are hundreds of genes believed to play a role.

When I think about genetics, I immediately think of Mendel, the monk who discovered the patterns of heredity and who is known as the father of modern genetics. One thing we all have, and that is ruled by simple Mendelian rules, is our blood type. There are three options: O, A, and B. Combined, you get OO, where only O is present; OB or BB, which is manifested as B; OA or AA, which is detected as A, and AB. O is considered to be recessive, while A and B are dominant over O, but co-dominant when they are together (AB). There’s also the Rhesus factor (O+/O-, etc.), but I won’t talk about that topic.

In my family, we have different blood types, so my parents must be OA and OB. In a very simple system, you would have ¼ of possibilities (25%) of being born with one of the four possible combinations: OO, OA (A), OB (B) and AB, as seen in this chart:

Blood type

It turns out that what should be happening does not necessarily happen, though that doesn’t mean the chart is wrong. My siblings and I are O, B and AB, but nobody is A. Statistically speaking, we could all be O, or AB… that’s how it goes.

This is only a parameter, with a simple inheritance pattern. Another example, not as simple, is that brown eyes are considered dominant, and green/blue eyes are considered recessive. My parents have green eyes, mine are brown (of 8 children, 1 has blue eyes, 4 green, 3 brown). I was also extremely surprised to find out that green eyes are uncommon (2% of the population, while 55% of us are brown-eyed), because it is the most common one in my maternal home. My husband’s blood type is O. I’m definitely OB, because one kid is O, the other B. Both of us have brown eyes, and one kid has brown eyes and the other hazel.

If we add more genes to any trait, with different interactions among them, it becomes a never ending story… There are several genes that determine eye color, and other factors, like the amount of melanin and white collagen fibers present in the iris, also play a role in the shade and type of color we see. In autism, which influences brain development and connectivity, and that has multiple manifestations, even within a single family, clarifying the genetics at play seems impossible.

What I did conclude, is that for those hundreds of genes to combine and create unique autism profiles, genes for autism traits must be present in the families of both parents, they don’t just come out of the blue.  That really gets you thinking about your relatives, let me tell you. 😉

Therapies for autistic people

Therapies that aim to improve quality of life of autistic people… emphasis on “the autistic person.”

Published in 2014 in Spanish, English version updated in 2018

 

This post is meant for people who are not immersed in the daily experiences of a family where one member (or more) is on the autism spectrum. It is not comprehensive and the therapies are very simplified.

The therapies for autism can be broadly divided into two categories, one being the search for a non-existent cure, and the second being therapies that aim to improve the quality of life of autistic people. There is no cure, since autism is not an illness. What has been proven, is that there are important and noticeable neurological differences between an autistic and a non-autistic person. Autistic people are born with an autistic brain, which probably started forming as autistic in early gestation.

Treatments for any illness or condition can or not be science-based, with dubious or clear evidence of its efficiency. When they are not evidence-based, meaning that the treatment has not been proven through rigorous scientific studies to work, those treatments are based in anecdotes… and humans have very poor memories. Now, that has been scientifically proven.  We don’t remember facts, we remember what we want to remember, we have a selective memory and our memory is filtered by our prior beliefs, and even our mood or the weather (seriously!). Our poor memory and our wishes to see improvement leads to a therapy or treatment to be used for far too long, despite poor results.

One of the best examples of this is bloodletting. People were bled thinking that this would bring back their body’s balance, ending the illness. It was first used in Egypt, then Greece and Rome, and it was used broadly, for all types of illnesses, despite the fact that way too many of the patients died. The people who died because of this treatment include members of the royalty, and George Washington. It should be noted that William Harvey (British doctor, who carefully described the circulatory system) started speaking against bloodletting in the 17th century. Regardless of his warnings, the practice continued until the beginnings of the 20th century.

Bloodletting was practiced widely and definitely in good faith. Right now, another type of dubious treatment, homeopathy used to “cure” cancer, is under the microscope in Europe as more and more deaths and the stories of how those people languished and died are coming to light. Studies at Yale University are seeing that people using alternative treatments for cancer, instead of chemotherapy or radiation, have a higher chance of dying. The history of medicine is plentiful in advances, as well as in myths and misinformation about all types of illnesses, including diabetes, obesity, cancer, etc. And “cures” for homosexuality, for example. It is not a surprise, then, that there are plenty of charlatans saying they can “cure” autism.

 

Some of the therapies that do help people on the spectrum are:

Speech therapy
Speech therapy is not only used by autistic people; it is used by anybody with communication or speech delays or deficiencies, or with executive function issues, brought by physical or neurological conditions. It does improve the communication skills and speech clarity, but it cannot be determined in advance how much a given person will improve. It depends on the type of physical issue and the person’s neurology, too. The goals and methods used are based on the needs of each person. If the person wants to develop oral language, that can be the goal; but if oral language is not feasible or desired, other communication methods can be used, such as sign language, pictographs, writing, using gestures or body language, or through devices, such as IPad, a laptop, a speech-generating device, etc. All of the non-oral communication methods fall under the umbrella term “augmentative and alternative communication.” A good example of AAC used successfully is Carly Fleishmann, an autistic woman who doesn’t communicate orally. She was thought to be intellectually disabled until she was able to learn to type and start communicating. Other people, like my daughter, speak, but the development of “functional” speech is either delayed or slower than the mean.

 

Occupational Therapy
It is used to treat sensory integration disorder, which is very common in autistic people (though it is not a “disorder” by itself; it is considered a symptom). Occupational therapy can also help improve fine motor skills required to get dressed, use scissors, eat with a spoon or a fork, handwriting, etc. The benefit is seen as the person enjoys more independence, and it does improve the quality of life of the person. Occupational therapy always depends on the needs of the person.

 

Physical Therapy
It is used to improve the processing of sensory input, especially input given by the vestibular and proprioceptive systems. Some of the skills that can be developed are coordination and balance, including standing up, walking and sitting.

 

Proven to work, but controversial–ABA: Applied Behavioral Analysis
ABA is based on behaviorism and on the quantitative analysis of sessions to achieve a given goal (“so-and-so will look at the person calling her or him three out of five times…”). At a practical level and simplifying it enormously, the idea is that you reward desired behaviors and try to eradicate undesired behaviors. The original model, created by Lovaas in California, was pretty much torture: to eradicate undesired behaviors, therapists would yell in children’s ears and used electric shocks. Many autistic adults report psychological damage due to that type of ABA. It has changed considerably, and instead of the brutal methods used to eradicate undesired behaviors, the trend is to ignore undesired behaviors while rewarding the desired behaviors. That has been proven to be much more efficient than punishment. A basic tenant of the evaluation is that the behavior should be observable and measurable, which also led to sessions that were incredibly boring for the children. Many autistic adults who underwent ABA therapy are against it because of the torture, really, that they received. Also, because they consider that ABA, and other therapies that are somewhat similar (such as the Early Start Denver Model, Floortime and others) try to erase autistic behavior to turn the autistic person into a pseudo non-autistic person. Self-advocates also warn that these methods train the person to be compliant, which could potentially lead to unreported abuse.

For example, “stims,” or self-stimulating behaviors–repetitive movements or speech patterns–are a behavior that some therapists and parents want to eradicate. Normally, stims are a reaction to stress or to happiness. Autistic adults have stated that stimming is a natural behavior and should be accepted; without stimming, their happiness is not as profound, and stress cannot be properly alleviated. They believe that wanting them to have “quiet hands” is ableist, and an imposition given by the non-autistic majority. There is actually a book, “Loud Hands: Autistic People, Speaking” comprised of essays written by autistic people about their experiences dealing with an ableist society.

As a parent, I totally agree with them in that stims such as flapping your hands, pacing, balancing your body and similar behaviors, are safe and should be accepted. If they bother someone else, that someone else is free to look elsewhere or go away. Some stims, though, can lead to serious physical problems. There was a girl I saw several times, who had severe bruxism. She would grind her teeth so hard, that you could hear it from far away. That level of bruxism can cause dental issues with serious and life-long sequels. Other behaviors are related to self-harm, such as skin picking or hitting themselves. I can understand the worry of parents and other loved ones in relation to these situations.

 

Some therapies are not backed up by research, but there is also no evidence that, as therapy, they can harm anybody. The inherent risk of each activity does remain. Among those therapies are:

Hippotherapy (horses). The idea is to work on sensory integration, muscle tone, coordination, as well as to lower anxiety, increase attention span, decrease social isolation, etc. Anecdotally, there are many success stories. Even just the contact with animals, such as dogs, has been seen to increase wellbeing. The results do look promising.

Music therapy. The goal is to increase wellbeing and sociability, decrease anxiety and irritability as well as sensory deficiencies. There is no hard evidence backing these claims, but relaxation and an enhanced sense of wellbeing have been reported by a great number of people, autistic and non-autistic.

Supplements. Supplements are sold not just of autism, but for many different populations: for women, for pregnant women, for children, for seniors, and so on. There is  some evidence that they provide no benefit for most people and that, in some cases, it can actually cause problems. Supplements are not recommended for healthy people who eat a balanced diet. Some specific supplements are sold as the “cure” for everything from autism to cancer; none of them has been proven to work.

Melatonin is a hormone, produced by the pineal gland in the brain. Its production is triggered by darkness, and it makes people sleepy. It is recommended for people with insomnia, which affects many autistic people. Some studies have shown that if melatonin is used, the person needs to be exposed to daylight early in the morning. The results are incredibly varied; some people claim it has been amazing, some others don’t see any results or find it helps at the beginning but not later. The scientific results are not conclusive.

 

Up to this point, the therapies or treatments I’ve mentioned do have the goal of improving the quality of life of the autistic person. Some of it is based on the ideas non-autistic people have about autistic people. We (non-autistics) tend to believe, for instance, that “all people” should enjoy looking at others in the eye. Or we can get scared and worried seeing stims that apparently hurt the person, as I mention above. We also could think it is better for the person to try to “fit in” with their peers, to prevent bullying. Some of the goals we can have in a therapy of any kind (ABA, speech, occupational) can be considered by autistic people as a negation of their neurology and their needs. However, those goals, even when mistaken, are planned because the parents, therapists and many times the autistic person think it will improve their social, physical or emotional wellbeing.

 

Then, we have the second group. Those who believe that autism is an illness and should be cured or at the very least, its “symptoms” should be ameliorated. That starts with a negation of their intrinsic being and their unique neurology. It creates the idea that the person is damaged, or that the person is trapped inside of some sort of jail and could emerge once the “bars” are taken out. The results are many times unsatisfactory, and this can lead to an increase in the intensity of “treatments,” or to the use of more, varied types of “cures.”

Some of these “treatments” can have detrimental effects, such as a diet that is free of gluten and casein (GFCF diet). The idea behind this diet is that gluten and/or casein cause or increase “symptoms” of autism. Many studies have proven that these diets are not efficient. Also, the lack of grains and dairy can cause nutritional deficiencies, and gastrointestinal distress due to the low fiber present in these diets. Additionally, gluten-free products are loaded with carbohydrates and many chemicals in a quest to achieve the texture naturally given by gluten.

Some researchers consider that, when a behavioral improvement is seen, most likely what is happening is that the person is autistic and has intolerance to gluten, casein or lactose. The other issue with these reports is that the data is based on observations from parents, who may experience expectation bias, or not remember correctly. For example, a study showed that the idea of “sugar high” is in the parents’ minds. First, it was determined if the mothers believed sugar caused hyperactivity in their children, based on their own experiences. Next, their children were divided into two groups, at random. One group was supposedly eating and drinking sugar, while the other half was to receive sugar free food and drinks. The parents who believed sugar made their children hyperactive and were told their children were ingesting sugar claimed the children were “hyper,” the other parents did not report hyperactivity in their children. As you may guess… all of the children were eating and drinking sugar free items.

There are other “treatments” not approved and that can cause serious injury or death. These “treatments” or cures are also based on the premise that autism is a disease, the cause must be found and fought. Among them are chelation, the use of hyperbaric chambers, bleach (euphemistically called “miracle mineral solution”), antibiotics and others. Mayo Clinic has a good list of treatments and they do mention some of these “alternative” treatments (and they do say these treatments don’t work and are not approved). Unfortunately, many parents are given the idea, sometimes by professionals, that there is no hope for the future and that their children are suffering and living a life not worth living. These parents become desperate and are easy prey of charlatans. That is where the real suffering begins.

Diagnosis: Neurotypical

Are you Neurotypical? What do you do with that?

Originally published April 3, 2018, in Spanish

I’ve been thinking that, were it a medical diagnosis, being Neurotypical would have to be a diagnosis by exclusion. The psychologist or psychiatrist, or some other doctor would tell you: So… we already ruled out attention deficit disorder. And you don’t have autism. Or hyperactivity. Or depression. Or anxiety. Hmmmm… for the time being, we can presume that you are a neurotypical.

And then, what? What would we do after receiving that diagnosis? Would it help us improve certain aspects of our life, of our personality, or our behaviors? After all, people with other diagnoses generally do something: they undergo therapy, take some specific classes, are referred to a specialist, join a support group. Or, at the very least, become conscious that, for instance, they need to give others a chance to speak. Or they start realizing that a terrible situation may not be that awful, in reality. Or they can request extra time to finish a test.

Up to now, it seems—with some valuable exceptions—like our non-existent certificate of neurotypicality has only helped Neurotypicals to look down on others. To pity those that are not neurotypical, but are so beautiful—as if they don’t “deserve” a given disability.  and to admire those that “overcome” their “difficulties” and are able to “succeed” despite having a diagnosis of one thing or another.

They are “inspiring,” we tell them. But that inspiration doesn’t turn into much more than meaningless chatter. And, to be honest, it also makes “us” feel better to know that “we” (phew!) can run, or see, or participate eagerly in meetings with many people, all of them talking at once. Stella Young called it “inspiration porn” (her TED talk is very much worth watching).  That type of inspiration only helps us feel good about ourselves and, maybe, to do something for those “poor people.”

But that is not accepting. That is just being condescending, without trying to include. Acceptance and inclusion in society, in our society, is accepting that this woman, who is mute, is a very talented professor and gives amazing conferences and the attendees remember them for a long time. Or that this man, with severe attention deficit disorder, is a renowned and innovative researcher who has conducted exhaustive and careful research in nuclear physics. It is being fully aware that a disability doesn’t determine what the person can do in the sense of  “OMG listen to this wonderful autistic girl, who sings like the angels” as if autism by itself has anything to do with the vocal cords.

A disability does determine certain aspects of a person. In some cases, it filters how they experience the world and, obviously, the response of the society has much to do with it. But it doesn’t prevent them from achieving their goals. And a disability in one area doesn’t mean they cannot be supremely gifted or skilled in another area.

Instead of just feeling inspired, shouldn’t we start doing? We could learn about the disability our neighbor lives with. Give others time to answer, ignore their filler words when they are speaking, and not pay attention to any tics they may have. Help them advocate for their rights and their needs. Or we could advocate for their rights, without needing a nudge. Is it hard? Sure it is. But it is also important, and valuable.

 

Words matter

A call for accurate and respectful reporting by news outlets and researchers.

If there is one thing every scientist should learn is that the words you use to describe your findings matter. Definitions matter. You need to be as precise as possible, to minimize misunderstanding of your science, and to ensure others are able to fully understand your results. This is a basic premise of scientific research and of science communication.  I was taught that premise during my graduate studies (Master’s and PhD, both in Germany). It was a principle I upheld as a postdoc and later a full professor in Mexico, then again as a postdoc in the US.

I remember the long discussions on terms. My research focused on gametes—egg and sperm cells—as well as embryos (my PhD is in animal reproduction). At some point, I was evaluating 5-7 day old pig embryos. We went back and forth in my lab about calling them a “clutch.” Or a “batch.” I did not like those terms and advocated for “litter,” positing that if I left the embryos I studied inside their sow, they would become an actual litter. This was the topic of many discussions, and afterward we had to defend the use of “litter” to our peer reviewers. One of the reasons one can use to defend the use of a certain noun is precedent. I did find someone who had used “litter” in the same sense I had. Therefore, my use of “litter” was approved.

One has to be careful not to “personalize” sperm. That is, you can say that they move or swim. However, you cannot imply that they are actual, independent organisms. They are cells, they move, and, under the microscope, they seem to have a sense of purpose and intent. Sperm are anthropomorphized in every way possible, and were described as small animals when they were first observed under a microscope.

However, every good reproduction biology scientist I have ever met is very careful with the words they use. We really think at length how to describe a situation or an action. It is actually hard to agree on words that can be used on sperm and that do not convey reflection and thoughtful action, which sperm are incapable of conducting. It takes time and many discussions with colleagues to come up with accurate descriptions and nouns. And, remember, we are studying eggs, sperm, and embryos, which will never read our research and will never misunderstand any of our conclusions.

Many science news organizations, such as Spectrum–an organization that compiles news and analysis of autism research, have started to pay attention to what the autistic community is saying. Spectrum states: Words matter to us at Spectrum. As journalists, we know they have the power not only to inform and educate, but also to shape cultural attitudes. That’s why it’s important to us to use language that is respectful of the autism community and reflects current usage in the field.

Based on this, Spectrum have switched their language to use identity-first (“autistic person”) as well as person-first (“person with autism”), since a majority of autistic self-advocates prefer the use of identity first. This is worthy of praise.

Where Spectrum, other news outlets, researchers, and many clinicians have not been hearing the autistic community and allies is in the use of the term “at risk.” I have made it a habit of pointing it out, to remind them that using “at risk” is not accepted by a majority of autistic advocates. A couple of days ago, I again expressed my disagreement with that wording. And another reader stated I was misunderstanding, “at risk,” because it doesn’t really mean “at risk.” As if it is one of those big scientific words that “the casual reader” (meaning me) could not possibly understand. I’m sure you can imagine how happy I was to read that comment on my lack of understanding of scientific jargon.

What irritated me the most was to discover that the person who refuted my argument this time was not a researcher or co-author in the paper. He is also not a member of Spectrum staff, as far as I can tell. This is somewhat typical: the arguments go back and forth between readers, but the journal or news magazine staff and the researchers keep their distance. That is certainly not appropriate. If there are many readers disagreeing on a term they put forth, the researchers or science communicators have the duty to clear out the misunderstanding. They should not simply let people argue with each other. Especially when the argument in favor of “at risk” reads like: “risk in this sense isn`t used the same way as most people use it. there`s a lot of technical language that uses words in a different way than most people do”[sic]…  without ever explaining what they are understanding.

Once I calmed down, I decided to be a good researcher and do my duty of, yes, researching. So I checked out if “at risk” has at any point and in any manner been used for any purpose other than to denote a risk of developing something considered a negative trait (when have you heard about “people at risk of becoming rich”or  “at risk of having a high IQ”?) but something else (what? I still don’t know).

First I reviewed the official definitions… autism research has its origin in medical research, as we know. The Harvard Dictionary of Medical Terms does not mention “at risk” as such, but does mention risk factors: Any factor that can cause a person to be more likely to develop a disease. For example, smoking is a risk factor for lung cancer.

The Merck Clinical Manual also speaks about risk factors, this time related to autism: For parents of one child with an autism spectrum disorder, risk of having a subsequent child with an autism spectrum disorder is 50 to 100 times greater.

Also from Merck, but this time talking about epidemiology (also relevant in autism research): The population at risk is an extremely important concept in epidemiology and includes members of the overall population who are capable of developing the disease or condition being studied.

The Center for Disease Control and Prevention (CDC) mentions the following about autism: “…genes are one of the risk factors” “…Children who have a sibling with ASD are at a higher risk of also having ASD” “…Children born to older parents are at greater risk for having ASD.”

Since autism research also belongs in the field of psychology, I looked for the definition for that field. According to Psychology Dictionary: [At risk] means vulnerable to an outcome, disorder, or disease. Risk status for an individual is defined by genetic, physical, social, and behavioral factors or conditions. For example, since schizophrenia is somewhat genetic in origin, a child of a schizophrenic parent would be more at risk for developing the disorder than a child of a parent without the disorder.

The National Center for Special Education Research provides the following definition of Disability and Risk of Disability to funding applicants:  Applicants proposing to study children at risk for developing disabilities must present research-based evidence of an association between risk factors in their proposed sample and the potential identification of specific disabilities [….] applicants must identify the disability or disability categories that the sampled children are at risk of developing.

I also reviewed the use of “at risk” in several scientific papers, published in different journals. First, in a supplement article published in 2015, in Pediatrics, focused on early screening, Zwaigenbaum et al., speak about “risk markers” found in children under three years old. In the introduction, they mention that screening sensitivity refers to “the proportion of children with ASD who are correctly identified as “high risk” according to results of screening.” They consider an increased risk, among others, “a positive family history, concerns raised by parents or clinicians…” In the conclusions, they mention another study where “infants at high risk for autism exhibit a different developmental trajectory than typically developing control subjects and that these differences are most evident between 9 and 12 months of age.”

Levy et al., published a Seminar in Lancet (2009) on Autism. The authors mention that previous studies on infants “at risk” (younger siblings of autistic children) found that in those infants “deficits in social responsiveness, communication, and play can be present in those as young as age 6–12 months.” They do mention that autism is highly hereditary:  “Heritability estimates from family and twin studies suggest that about 90% of variance is attributable to genetic factors, making this disorder the neuropsychiatric disorder most affected by genetic factors.” And “Autism spectrum disorder is multifactorial, with many

risk factors acting together to produce the phenotype” with risk factors interacting: “gene–gene or gene–environmental interactions.”

This same writing style is used in many other studies. I’ll only mention the article that prompted me to comment on a post a few days ago. It is an article published in Autism this year (2018), authored by Campbell et al. They consider a child to have a “high risk” if they have an autistic older sibling, and a “low risk” if the older sibling is developing typically. They state: “research has begun to shed light on early signs of ASD and to delineate when [high risk] toddlers who receive an ASD diagnosis diverge from high risk toddlers without a diagnosis ([high risk]-noASD) and from low risk (LR) toddlers with typically developing older siblings on selected behavioral markers that have implications for social and communicative development.” I must mention that this phrase is using “at risk” somewhat correctly in that they are speaking about a genetic risk factor. However, I believe there are ways to express the current situation of these toddlers in a better, more accurate way. Then, there are phrases like this one, from the same article: “the role that language and other cognitive and social delays play in impeding the development of self control in young children with ASD or at risk for ASD.” This last part, toddlers being “at risk for ASD” does convey the idea that ASD is something that can develop.

There are two positions relevant to the use of “at risk” in autism. One is that you believe that autistic people are born autistic; it is a way of being, a type of mind among a diversity of minds that occurs in humans. Or you believe that autism is a disease that is produced by environmental factors, faulty parenting, nutrition or any other post-natal cause.  If you believe that people are born autistic but that the expression of some behavioral aspects of autism can be ameliorated with therapies or treatments, you belong in the first group.

As I hope is clear now, “at risk” in autism research does mean the same as in medicine: a risk factor is a variable that increases the possibility of a condition, disorder or disease to occur. A population at risk could develop the disease, condition or disorder, but does not have it at that point.

If you belong in the first group described above, the use of “at risk” should be limited to genetic or environmental factors happening before birth. Once born, children are no longer “at risk” of “developing” autism—either they are autistic or not. Under this premise, any sign or characteristic mentioned is no longer a risk factor; rather, it is an early sign of autism.

Researchers, please do take this in consideration when writing about your research, be it in scientific conferences or a scientific journal. Members of science news outlets should also pay attention to the way they are presenting the results of such research.

I am aware that many times words stick around, and one continues to use them because it is “the way it has always been.”  However, researchers and clinicians that believe autistic people are born autistic, should refrain from misusing “at risk.” Those who believe autism is a disorder that can be developed or acquired and consider that early signs are risk factors… then do the autistic community a favor, and be clear about your position. The autistic community and their allies need to know where you stand.

Empathy, and its limitations

(originally written on my Facebook wall, on June 16, 2013, then published on El Vuelo de mi Mariposa, March 9, 2014, both times in Spanish).

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Empathy can be defined as the capacity of knowing if another person is happy or sad, and to appropriately react to those feelings. It is possible that empathy is the result of the work of certain neurons, called “mirror neurons.” In studies done on macaques, Dr. Rizzolatti and collaborators discovered that certain neurons were activated when the macaques performed a given activity. In subsequent experiments, they saw it was not necessary for the macaque to perform the activity—the same neuron would become activated if the macaque saw another macaque execute that activity.   This was observed in humans afterward, though in humans what has been observed is the activity of certain regions, not the individual neurons, for ethical reasons. Mirror neurons, then, help us experiment what another person is going through; that is, they help us put ourselves in their shoes.

This capacity to feel what others are feeling has been taken for granted for a long time, even before the mirror neurons were discovered. And it is considered a basic characteristic of human beings, though it has also been observed in other animals, as well as the altruistic behavior that—it is believed—emanates from such empathy. It is considered that autistic people are “deficient” in empathy, though it is not known if it is related to not having capacity for empathy, or if the issue is not recognizing the facial expression that denotes pain or happiness. I should also note that many autistic people say they have excess of empathy, not a deficiency. However, other autistic adults say they cannot recognize emotion in facial gestures, while their own body language is hard to read for non-autistic people.

I’ve seen both extremes with my children. When Didier (non-autistic) was very young, at a time when we were not sure how much he understood of his surroundings, a baby cried on TV. Didier immediately started crying, very desolately.  That would be a very obvious manifestation of empathy: you suffer, I suffer. A few years later, I saw Didier very sad, crying, because his grandparents, granduncle and grandaunt, who had been visiting, were leaving. By his side, Marisol (autistic) was singing the theme song for “Bob the Builder” very happily.

On the other hand, we “neurotypicals” or non-autistics don’t feel as much empathy if we are not or have not been in the same situation, or have a reasonable belief that we could be in that situation. I went to watch “Titanic” when it came out, with my sister, who was already a mom. She started crying watching a scene where a mom puts her kids to bed with the hope that they would be asleep when they died, and would be spared the suffering. I think she was sobbing the rest of the movie. I was single and childless at the time, and didn’t understand her reaction at all. The next day, I talked about my sister’s reaction at work, and a coworker, also a mom, told me that she had also cried quite a bit with that scene. Now that I’m a mother too, I cannot read or watch anything where children are hurt or die. It’s too painful.

After much reflection on this subject, I have come to the conclusion that buying into this idea of empathy is harmful. Additionally, that our capacity for empathy is actually limited and it must be, if we want to survive as a species. There is a disorder called “mirror touch synesthesia.” People with this disorder literally feel what the other person is feeling. Their capacity for empathy, be it because of the mirror neurons or some other system not yet identified, is exaggerated. If they see someone being hurt, they really, literally feel that pain. The positive aspect of the disorder is that if they see someone being embraced, they feel that too. But people with this disorder say it is mostly overwhelming and has more cons than pros.

Our capacity for empathy must be limited. If you really felt absolute empathy for people who are suffering famine, war, illnesses, you would not be able to perform the simplest daily tasks. A surgeon feeling too much empathy would be worthless during surgery.

A problem I see with our overestimation of our own capacity for empathy and the value we give it, is that it can actually lead us to despise others and the way they react to their life’s experiences. If I believe I can put myself in someone else’s shoes, I can judge that person. It is not unusual to read that someone who is a “self-made man/woman” refuses to help others from his or her background, because “I was able to pull myself up by my bootstraps and you should be able to do the same.” A similar situation is seen with sick people. We all have had some physical pain at some point. Pain is incredibly subjective, but we seem not to believe that. Also, it has been proven that humans remember whatever they want (memory bias) so it is possible that we are not even remembering some type of pain accurately. But we believe we do, and that the pain we feel is the same as what other people experience.

A couple of months ago, we went to a birthday party for one of my son’s friends. This boy suffers from migraines; the parents believe it can be triggered by stress and in that sense, it doesn’t matter if it is good or bad stress. This time, the thought of the party triggered the migraine. The party took place, since the location where the party was hosted doesn’t accept last minute cancellations and they had all the food ready, but the birthday boy didn’t attend.  The unwelcome advise given and hurtful comments, undoubtedly made with good intentions, but not so much thought (or true empathy!) included: “Oh, bring him, the migraine will go away!” “How is it possible that a party can trigger a migraine?! He should be happy!” I have suffered some migraines that don’t let me even think and that remain stalking me even after using ad-hoc medication, so I perfectly understood the birthday boy’s and his parents’ attitude. If I had a migraine, I would not go into a place full of children, and would not be in the mood to hear them sing “happy birthday,” even after it went away.

And here we’re talking about the same issue: this situation resonated with me because I suffer from migraine too, even though the cause may differ. But those who have only experienced the occasional headache, simply cannot phantom what a migraine implies. I could add more examples, but basically my point is: we need to recognize that we are not really as empathetic as we believe we are. Meaning: we cannot really understand how another person feels and what options they see, even if we have gone through a similar situation. We need to give others the benefit of the doubt. We must strive to be empathetic, not assume we are.

Back to school

Classes begin tomorrow… we had a long summer break. Both of my children were in summer day camps most of the summer. They met many people, had fun, and had their share of boredom, which is also good.

Now it’s time to go back to the (new) routine. With new and old classmates, new teachers, new classroom, new knowledge to acquire. Didier is starting seventh grade. I’m sure he’ll be fine. He has a good friendship group; he’ll retake his afterschool activities, and may add one more in January. He’ll also begin learning a foreign language (in addition to Spanish, which is more like a second mother tongue).

Marisol is starting fifth grade, her last one in elementary school. It is the same school she has been attending for years, which is an island of stability in a sea of changes. But the school has a new principal, with maybe new rules. And a new speech therapist, too. I don’t know the new principal, or the general education teacher, or the therapist. Ouch! Now that I’m thinking about it, there are a lot of uncertainties. I don’t know who her special education teacher will be, either. In summary:

Knowns: The school itself, cafeteria, schedules, school bus (though I’m going to start taking her to school in the mornings, but for the afternoons), some of her old classmates will take again classes with her, the librarian (who is super nice), and she’ll take classes in the same area of the school she was in last year.

Unknowns: The principal, general education teacher, special education teacher, speech therapist, social worker (she helps out with socialization, among other issues). Obviously, the knowledge will be new, as well as the class routines, amount of homework, academic expectations. And new/old classmates. This last issue is what woke me up at 5 am today. And I guess it’ll keep me up several nights these first weeks.

Waiting for fireworks!
Didier and Marisol, waiting for fireworks to start, each sporting a pair of sunglasses they were just gifted.

I was talking to a friend about how, many years ago (in pre-k) Marisol was not really interacting much with her peers and was not actively looking for friends. However, her interest in being friends with other children has been increasing every year. She needs to feel like she’s part of a group, like she’s accepted and belongs, to be happy. Like the vast majority of people, I guess. But in her case, it anguishes me to think it is possible children will not accept her in a team for school work. Or during recess they won’t play with her. Or won’t eat with her in the cafeteria. She did have several such experiences last year.

I am not worried about academics. I know she can deal with the new material, and with her assignments. If she were to start having issues finishing her assignments or projects by the deadline, or answering the tests, or anything of the sort, it is not really a big deal at this age and grade. I know also that there are many supports and resources available for her to learn how to manage her time and for planning and organizing her projects and assignments, to finish them on time (or get extra time as an accommodation, if needed).

What worries me is the social aspect. Last year implied a lot of learning how to manage situations where a social group obviously excludes you, or feeling that you need to change your personality in order to belong. Well before the end of the year, she started to socialize with others, and made new friends. This experience helped her to be open to meeting many new other children throughout the summer. She attended several day camps, meaning new activities, places, counselors and peers every one or two weeks. She made many new friends, and spoke plenty with them, based on what she’s told us, even comments like “John normally lives in California and was visiting family here,” and that “Sarah likes to fish.” I really hope this continues, that she can find good friends and not be attracted to children that don’t want to be her friends, and that she continues building up her own resilience. Because, obviously, these type of experiences will continue throughout her life. Not because she’s autistic, not because she’s a girl, no reason at all is needed. Most people go through this at different points in life.

This morning we spoke about this. She said that a few months ago, she thought she was the only child excluded. After that, she spoke extensively with her dad, her brother and me. I also showed her a book a friend had recommended to me, “Odd Girl Out,” which was the first book that spoke about relational bullying (this covers excluding others from a social group, as well as trying to dominate other’s social life) at school, and focused specifically on girls. I showed her that the author says she was herself excluded, and when she started to write this book, she discovered most girls had gone through a similar situation at some point. However, nobody spoke about it, they felt ashamed about that experience, and as a result, everyone though they were the only one. Feeling like you’re the only one increases the feeling of being unwelcome or unworthy. I truly hope she won’t be so hurt if it happens again, and that she finds a group of good friends that can accept her as she is (I think she’s amazing, of course!). And… we as parents, I as her mom, need to work on my own resilience…

And I… how “normal” am I?

(originally published in Spanish April 1st, 2014).

Marisol reading
Marisol is siting on a bean bag chair, “reading” a children’s book. There are several other children’s books on the floor and on a shelf. She was four when this picture was taken (video here)

When Marisol was diagnosed, or more exactly, when we were in the middle of the diagnostic evaluations, people would say one of two things: “Oh, I was just like that” or “C’mon, autism? Nah, Marisol is just like you.” The “I was just like that,” meaning “normal,” by the by, turns out to be very amusing if you work at a place where people joke about how at least half the professors and students in certain areas could be diagnosed with autism.

The second comment I would get, “Marisol is just like you” (you were aloof, withdrawn as a kid)… I’m the youngest of eight, a family of ten when you count my parents. My house was always full of noise, people and a thousand conversations going on at once. I was, truthfully, not the most sociable person in the world. I never had tons of friends, or hosted parties with a bunch of people, though I did do my fair share of going to clubs and bar hopping when I was younger. I didn’t like dolls as a girl, and I don’t remember any preferred stuffed animal. What I did have was a blanked that I would carry everywhere, though I don’t remember it—I’ve been told about it.

I absolutely loved to read when I was a little girl—I was an early reader. It is still my favorite hobby. My mom told me a couple of years ago that there were times when it was time to go to school and I would be nowhere to be seen. They would look for me everywhere and they would finally find me reading on the corner of a room. My mom said she would had to carry me to the car, still reading. A dear friend I just saw after too many years told me that when I would go to her house for sleepovers, I would take a book with me. She would ask me to play, and I wanted to read.

Another anecdote related to reading is that I was very much into classical Greek literature, my favorite book was the Aeneid was a favorite. My sister Lili, who is very kind and humors all my geekiness, gifted me the Tragedies of Euripides when I was 11. And the last example is that when I graduated from junior high and was about to leave the school I had attended since I was five years old, a group of moms wanted for all of us to receive a doll (similar to American doll) dressed with the school uniform. I said absolutely no. First of all, I didn’t like dolls, never liked them, and after nine long years wearing that uniform every day, the last thing I wanted was to see it daily. The dolls were also pretty expensive (I just saw them online at $43 USD) and, if my family was going to spend money, I’d rather get a book. Some of the moms were apparently pretty upset and complained to my mom. Honestly, I still don’t understand why these moms were angry at another person’s child not buying a doll.

Now, one must keep two things in consideration. One is that there are good probabilities that the family members of an autistic person have autistic characteristics—sometimes called broad autism phenotype or BAP—or are autistic as well. The second is that they may not have autistic characteristics, but do show features of disorders that can co-occur with autism. Those would be for example hyperactivity, attention deficit disorder, obsessive-compulsive disorder, learning disabilities, executive function issues, etc.

…I should clarify that I’m not saying this about anybody in particular…

People can check if they fit characteristics of the broad autism phenotype online. It was not created for diagnostic purposes, and there is some controversy about the validity of these tests, but many people use it as a first step. If they come as “possibly” autistic in those quizzes, then they could look for a professional opinion. Or self-identify without looking for an official diagnosis, which is a perfectly valid option. There is good information online about the “BAP,” such as articles for the general public, or research published in specialized journals. The Autism Quotient online test (among others) is also available… in case anybody gets curious.

To make a long story short, I started answering online quizzes, like the “Aspie Quiz” that was created for self-evaluation of Asperger’s syndrome and several others, to see if I could fit within the autism spectrum. I was not even remotely close in any of them. I also spoke to a couple of psychologists and clinical social workers that knew me pretty well and they said it would be highly unlikely for me to be diagnoses with autism or the BAP. So… my qualities and challenges don’t have that label.

The fact is that autism is a spectrum and there is a grey area where it is difficult to differentiate, for example, between being gifted, hyperlexic, autistic and several other diagnoses. And, anyway, talking about “normality”—who on Earth is “normal”? We all have “something.” If you’re not autistic, that doesn’t mean you cannot be obsessive, neurotic, depressive… so, are you “neurotypical”?  Andrew Main didn’t agree with the division of “neurotypical”—which was coined by autistic advocates, and “autistic” and proposed “allistic” in jest:

“Allism is a debilitating neurological condition which adversely affects emotional stability, sensory perception, self-awareness, attention, and many other areas of mental function.”

Main explains the meaning of the word “allistic”:

“The word “allism”, invented for this article, is intended to precisely complement “autism”. It is based on the Greek word “allos”, meaning “other”,  just as “autos” (in “autism”) means “self”.”

Going back to my initial point, although I’m not autistic, I don’t think anybody would say I’m the most “normal” person in the world… I hesitate to call myself “neurotypical.” And you? How “normal” are you?