Thursday, November 7, 2019

Ehlers-Danlos Syndrome: An Autistic Autism Researcher's Insights

Dr. Emily Casanova 
[image: Black-and-white headshot of a white woman
with medium-dark, chin-length waved hair.]
Ehlers-Dahlos syndromes are disorders that affect connective tissues. It is both under-researched, and a common co-occurring condition in autistic people. We wanted to know more about how Ehlers-Danlos gets diagnosed (and overlooked) and the state of the research, so we spoke with autistic autism researcher Dr. Emily Casanova, who presented on this topic at INSAR 2019, the annual meeting of the International Society For Autism Research.

Thinking Person's Guide to Autism: First you can tell us a little bit about you and your work?

Dr. Casanova: My work has two major foci. The first centers around the relationship between Ehlers-Danlos Syndromes (EDS)/hypermobility spectrum disorders (HSD) and autism, trying to tease apart their shared biology so we can better define and understand precisely what these overlapping conditions are. The second branch of my work focuses on the genetics underlying autism. I am particularly interested in the evolutionary patterns of these genes and their functions within prenatal development across species. Many rare genetic variations that are associated with autism occur in developmental genes, which are extremely old and are highly conserved across most species.

TPGA: How is Ehlers-Danlos diagnosed?

Dr. Casanova: EDS and the closely related HSDs are diagnosed primarily through physical assessment and taking patient histories. Genetic testing is also an option, and is currently used to rule out other hereditary connective tissue disorders (HCTD). There are different types of EDS, with the most common form being hypermobile EDS (hEDS). This type of EDS, as well as the related HSDs, are diagnosed using the hEDS Criteria Checklist, which you can find on the Ehlers-Danlos Society website:

Generalized joint hypermobility (GJH) (as defined by a score of 5+ for adults under 50 on the Beighton scoring system) is considered a central feature of these diagnoses, as well as chronic musculoskeletal pain and/or instability (see Criteria 1 and 2c). Other features associated with HCTD, such as effects to the skin, the heart, and the skeleton are also observed (Criterion 2a).
Finally, the clinician will note whether any 1st degree family members also meet criteria for hEDS.

These criteria were published in 2017 and are much stricter than previous iterations. The broad HSD category is also a new diagnostic entity that subsumes people with previous diagnoses of Joint Hypermobility Syndrome (JHS) or localized/historical features of hypermobility who have features of musculoskeletal pain/instability but don’t meet full hEDS criteria. Some individuals with a previous diagnosis of hEDS prior to the 2017 criteria change may also now fall under the HSD umbrella.

Although EDS was once considered a rare condition, occurring in about 1:2,500-5,000 people, most clinicians believe that the hEDS type is common, although prevalence estimates are not yet available in part due to the recency of changes in diagnostic criteria.

TPGA: Do you have a sense of how many subtypes of EDS are there, including related conditions like Hypermobility Spectrum Disorder?

Dr. Casanova: Currently, there are 13 recognized types of EDS, although that will probably continue to expand with time and further research. With the exception of hEDS, most forms of EDS have gene associated mutations and are believed to be rare conditions. (“Rare” is typically defined as occurring in no more than 1 in 2,000-3,000 people.) hEDS on the other hand is likely a common condition and there are currently no identified mutations associated with it (although that will probably change in coming years due to ongoing genetics studies).

HSDs are even more common than hEDS. Previous research suggests that generalized HSD (G-HSD), which are people who have GJH and musculoskeletal pain/instability but don’t meet Criteria 2a or 2b in the hEDS Checklist, occur in approximately 2% of the general population. Meanwhile, GJH occurs in about 20% of the population. It’s currently uncertain how many people have what is known as localized hypermobility, which is hypermobility in 1-4 joints but who don’t meet criteria for generalized hypermobility.

TPGA: What are some typical and atypical traits of EDS that people should look out for?

Dr. Casanova: The typical traits of hEDS are GJH, chronic issues with musculoskeletal pain and/or instability, and usually other effects to the connective tissue like soft mildly pliable skin, easy bruising, abdominal hernias, Marfan-like (“Marfanoid”) features such as long arms or fingers, and some mild heart malformations like mitral valve prolapse.

While these are currently considered the core characteristics of EDS/HSD, because connective tissue is in almost all parts of the body, it sometimes seems that there are few symptoms that can’t occur in association with these conditions. So rather than try to list them all here, I highly recommend following the blog, Oh TWIST!, by Jan Groh, which has an incredible wealth of information on EDS/HSD and related conditions:

TPGA: Does anyone have good statistics on the percentage of autistic people who also have Ehlers-Danlos?

Dr. Casanova: Unfortunately, there are few studies on this topic. One Swedish study back in 2016 estimated that approximately 3% of those with EDS in Sweden also have an autism diagnosis. However, because hEDS/HSD is predominantly diagnosed in women and autism is notoriously underdiagnosed in females, those are probably underestimates of co-occurrence. I personally suspect we may see as much as 10% overlap, but we are in desperate need of more research to determine whether this is the case.

TPGA: What advice do you have for people who suspect they have EDS but can't get a diagnosis? (Besides venting on #DoctorsAreDickheads.) Why is it so hard to get a diagnosis for so many people?

Dr. Casanova: Circumstances are complicated. Many doctors are either unaware, untrained, or—worse—misinformed about what EDS/HSD is and how it presents. If a genetics center is available and taking referrals, that is often the best place to seek an assessment. Geneticists are usually very experienced in identifying and measuring physical malformations (e.g., hypermobility), as well as offering genetics services for those interested. However, any EDS-experienced clinician should be capable of performing an assessment.

Some genetics centers have unfortunately stopped accepting referrals for hEDS/HSD for two primary reasons: 1) because hEDS/HSD are common conditions (in contrast to the usual rare conditions that most geneticists see), these centers are being overrun with referrals, spreading resources thin; 2) because we have yet to identify rare mutations consistently in this population, geneticists often feel like there’s not much they can do, aside from perform a physical assessment and take a history.

Unfortunately, there are also those instances in which age-old prejudices that center around female-dominated conditions like EDS/HSD also play a role, leading to dismissal of patients’ concerns or, worse still, outright patient abuse. For a population that comes into frequent contact with the medical establishment due to complex ongoing physical problems, sadly there are few patients who have not experienced these unfortunate and painful events, leading to higher rates of medically-induced posttraumatic stress disorder (PTSD) in this population. Finding a supportive physician is therefore of paramount importance for those with EDS/HSD.

TPGA: What about BAPpy folks (Broad Autism Phenotype with a sub-clinical set of autistic traits)? Do they have a tendency towards EDS as well, as yet another one of those shared traits?

Dr. Casanova: There do seem to be a lot of BAP folks on the EDS/HSD spectrum. I’m not sure how often BAP individuals present with EDS/HSD symptoms, but I’d assume a portion of them do. We’re hoping in future to at least get an estimate of the frequency of BAP in EDS/HSD.

TPGA: Are you aware of any approaches like diet or exercise that can help improve the quality of life for people with EDS?

Dr. Casanova: A good book on physical therapy and exercise specifically for those with EDS/HSD is Living Life to the Fullest with Ehlers-Danlos Syndrome. Diet also can be a tricky issue for many with EDS/HSD because, with comorbid mast cell activation syndrome (MCAS), there’s considerable variability in how individuals react to different foods. Some people try a low histamine diet, others do a trial by error diet. For those who can handle it without GI side effects, I’m personally a firm believer in consumption of amino acids, such as things like bone broth.

Since in hEDS/HSD we seem to experience chronic inflammation and probably rapid turnover of connective tissues, it’s a good idea to supplement the diet so that the body has ample supply for repair. Antioxidants are also probably another helpful supplement, although be cautious about overdosing, but they are also important for cell repair. But most importantly, if the individual is experiencing gastrointestinal problems, an elimination diet may be helpful to determine if any particular food products are triggering reactions. However, not all GI issues are solely the result of an immune reaction but may be due to autonomic disorders associated with EDS/HSD, especially in the case of constipation and gastroparesis (slow emptying of the stomach), etc.

TPGA: Any other advice you'd want to give people who have EDS, from a personal or research perspective?

Dr. Casanova: If you have a current diagnosis of hEDS (based on the 2017 criteria), I highly recommend trying to enroll in the Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) Study, which is a genetics study aiming to identify rare genetic variations that may occur in some people with hEDS. I’m not personally involved in this study, but the importance of this can’t be underestimated as this will help us better understand the biology(ies) of this common complex condition, how it may overlap with other hereditary connective tissue disorders, and hopefully how to better treat it and improve the quality of life for those on the hEDS spectrum.

Thursday, October 31, 2019

Book Review: Communication Alternatives In Autism

Book cover with a background that is blue on the left and yellow on the right. A red bar in the upper center contains white text reading, "Communication Alternatives in Autism," followed by smaller yellow text reading, "Perspectives on Typing and Spelling  Approaches for the Nonspeaking." Below, two hands hold a white tablet device with a keyboard visible and white text on black reading, "Hello my name is ..." Below, red text reads, "Edited by Edlyn Vallejo Peña"
[Image: Book cover with a background that is blue on
the left and yellow on the right. A red bar in the upper
center contains white text reading, "Communication
Alternatives in Autism," followed by smaller yellow
text reading, "Perspectives on Typing and Spelling
Approaches for the Nonspeaking." Below, two hands
hold a white tablet device with a keyboard visible and
white text on black reading, "Hello my name is ..."
Below, red text reads, "Edited by Edlyn Vallejo Peña"]
Communication Alternatives in Autism contains the perspectives of ten autistic self-advocates, who "share their experiences with alternative forms of communication. Their narratives document the complexities that autistic individuals navigate—in both educational and community settings—when choosing to use approaches that utilize letter boards and keyboards."

Review by Olympia Eleni Ellinas

Autistic children and adults, around the world, are being treated as if they aren’t humans, as if they aren't capable of sentient thought. This is highly disconcerting, and I feel a need to aid change. Whilst reading this book, I felt relief at the end of each essay; the individuals ascertained a status of fair treatment and respect from others. The general theme of each person suffering intensely at first due to misunderstanding and discrimination, reminds me all too well that this is endemic: I hope that by reading this book, the general public and educators will realise that standardised testing rarely assesses autistic strengths properly.

The thing that strikes me the most is how all the autistics in Communication Alternatives in Autism so greatly strive for a high-quality education compared to many youths these days who dislike school and try hard to skip classes. The autistics in this book are representative of the general population of autistics in my experience, as I personally know many autistics who have passionate interests in certain areas and will pursue and acquire large volumes of information about them.

"Not talking is not the same as not thinking," says one of the authors,  Ido Kedar, [p. 69], and this is a common theme in this book. Just because one cannot speak, it doesn’t mean that one cannot possess thought, including abstract and independent thought. It does not mean one cannot learn. Yet Applied Behavioural Analysis (ABA) ‘therapy’ (in inverted commas because it is rather a form of torture!) is used on autistic children to basically ‘train’ them “like a pet,” says Philip Reyes [p. 154] and does not encourage independent thought, which is one reason much of the autistic community strongly disagrees with the practice.

In this book, I see examples of how ABA has been used on the authors, who have described it as no less than a living torture. One author, Amy Sequenzia, states that she was forced into ABA to ‘fix’ her, by people who discouraged use of Facilitated Communication (FC). Who think that any method for autistics to eloquently communicate is an anathema, who believe autistics are not people. Amy was placed in institutions. “Institutionalised ‘care’ is about non-disabled people celebrating their perceived superiority over us, the ‘not-quite-humans,’ while making us feel exactly like that: sub-humans” says Amy Sequenzia [p. 65]—this is a very Lovaas-influenced and extremely damaging concept. But, like the other authors, Amy’s life improves.

Criticism about FC are worth noting, but so is the fact that one cannot just expect an autistic child to suddenly walk to an iPad and start typing, when they do not have the motor skills. We need to initially assist them in typing. Initial assistance is even more important when autistic people have co-occurring conditions such as hypotonia and severe apraxia. An important point is made that FC often leads to independent use of a letter board or keyboard. Tracy Thresher [p. 44] states that he needed his hand supported whilst using FC, otherwise his hand types echolalic words and phrases. Many professionals against FC do not understand this, or the common theme in the way that FC trainers teach people like this book’s authors: those trainers know that autistics can learn. This is vital.

The editor of the book, Edlyn Vallejo Peña, is also the mother of another author, Diego. She had a drive to give Diego the communication choices he is happiest with. This is logical. Too many parents let preconceived judgements take over and refuse to acknowledge that their child is already trying to communicate, before they have a chance to formally communicate. Or they force one very limited style of communication, even if it doesn’t work. Children that use very basic communication tools often grow into adults using the same basic tools. Adults need far more choices than ‘I want a drink.’ And it is my belief that Augmentative and Alternative Communication (AAC) training that focuses solely on basic requesting and simple sentences is frankly abusive.

The essays in Communication Alternatives in Autism show how eloquent and descriptive many autistics can be when they are given the opportunity to learn to type their words out. Philip Reyes’s mother's persistence in obtaining the best communication method for him is key. Autistics, quoting author Samuel Capozzi, “have an incredible propensity for language and communication once given a reliable means to communicate” [p. 97]. Samuel’s speed in progressing, once he was ALLOWED to pass communication onto people, reflects well on the potential of autistics. Many autistics are a huge potential source of intellect waiting to be utilised. However, wisely, Samuel says “this list is not to boast, instead it’s a list to demonstrate potential” [p. 101]. We shouldn’t model him as a protagonist who’s elevated above the rest, many autistics out there have this type of potential, we just need accommodations.

Too often when autistics have very limited, or unreliable, speech, people think that that is all they have. Nope. Everyone is capable of communicating, plus this book shows that many autistics can have potent skills. Sadly, standardised tests do not consider the skills and competency of autistics with minimal speech and apraxic motor skills (the ‘mind-body disconnect’ [p. 107]). Testing labels such autistics as learning disabled (having intellectual disability), even when that is not the case.
“I want people to know that not speaking is not the same as not thinking; that poor fine motor is not the same as not thinking; that impulsive actions are different than not understanding right from wrong; that poor facial affect is not the same as not having feelings; that boring people to death is denying them life, liberty and the pursuit of happiness” Ido Kedar, [p. 34] 
This quote really struck me. Autistics are often deprived of consistent forms of communication, and often treated with powerfully sedating medications because of “behaviour,” which can actually be frustration at not being able to communicate, and/or apraxic motor skills deficits. Apraxia can turn meaningful intentions into disorganised and chaotic involuntary movements. It does not reflect on the person’s capability or worth. In Ido’s essay, he clearly shows frustration at not having his innate abilities respected; it would be horrific if he were treated as if he lacked those abilities, for his entire life. Perhaps the diagnostic evaluations for communication disabilities should be redesigned?

While there is nothing wrong with having a learning or intellectual disability, sometimes people mistake apraxia or sensory processing differences for  those conditions. “[I]t is not a cognitive issue for me instead it is a motor issue” [Samuel Capozzi, p103]. I also experience this, I have a degree in pharmacology, but my behaviour often resembles that of a person with a learning disability, resulting in many incorrect assumptions. Another of the authors, Dillan, describes this eloquently: “I am sorry you don’t get to experience autism, but I am happy that you do not have to deal with being made to think something is so wrong with you that you should not ever think that you deserve more out of life” [p. 107]. This is the truth of autism. It can have many benefits. The disadvantages are often placed upon us by a loud and cruel world.

Apraxia is something I also have. It causes me to be quite wild and crazy in my movements and actions, much like author Larry Bissonnette, who after finding a communication avenue writes, “It was Larry the artist now rather than Larry the wild and crazy autistic guy” [p. 57].  Sadly, I have been denied the help I need to integrate my sensory and motor systems. Similarly, Emma Zurcher Long describes herself as laughing out loud when someone is sad, which leads to people thinking she has no empathy. This is not the case. She feels empathy very strongly, and she emotively describes this. But we autistics may appear to have inappropriate emotions in response to emotive situations, because apraxia can cause us to not act in a way we intend to. But we relate to emotions. We feel them.

Author Samuel says that his speech is full of “blurts” [p. 98]. I experience these too, the frustration that I have from not saying what I actually want to say is great, and often my speech just switches off from the exhaustion of it. Author Henry Frost’s section, called “Autistic Freedom,” made me think about my situation. I so strongly want to use AAC when I require it, but I still receive discrimination from healthcare staff and others. I end up experiencing my own “blurts,” which end up as derailing, highly pressured speech, not useful, and can be plain annoying to everyone.

A recurring theme in this book is institutionalisation. “Institutionalised ‘care’ is about non-disabled people celebrating their perceived superiority over us, the ‘not-quite-humans,’ while making us feel exactly like that: sub-humans,” says Amy Sequenzia, [p. 65]. And Larry was trapped in an institutionalised, low expectations life, and only breaks free later in his childhood. His story reminds me of the way I got out of being a revolving-door patient in psychiatric institutions, being misunderstood and mislabelled. The term ‘low-functioning’ used to describe so many autistics like Larry is an example of how useless and abusive that term is. Larry discovers his talent in the arts, and he makes a career out of it. Low-functioning, did you say? Functioning labels are a moot point, as Samuel describes on p. 94.

The harsh reality of a world that won’t consider the intricacies of autism is stated: “I was doomed to remain trapped,” said Dillan Barmache [p.108]. Professionals just see the outer layer of autism. Dillan emotively describes the psychological pain he felt when he was misunderstood, and measured solely by his apraxia and not his true capabilities. The theme in these essays comes to show that ‘thinking outside the box’ works, whenever an educator sees beyond the apraxia, when behaviour is not always communication.

As an aside, I enjoyed author Henry’s classification of ableists, and his point on how special education classes too often disserve all students: “teachers’ attitudes affect performance” [p.129]. Teachers who do not want to acknowledge a pupil’s abilities will only hinder them. Special education classes too often do not challenge pupils. Amy [p. 62] states, “[t]here wasn’t any learning” in her special education classes, but that she had the “expectation was that [she] reacted to any event, changes or demands in a non-disabled way.” I personally am thankful that my parents refused to ever have me in inappropriate classes and placed me in a private gifted education primary school, after I had been expelled twice. I flourished in my school. If I had been forced to endure inappropriate education merely because my behaviour was problematic, I wouldn’t be alive today as the failure of the system would be unbearable.

Ido [p. 80] describes how professionals who organise special education programmes and ABA training often have most things about teaching students like him all wrong. And if this is realised, these professionals then clash with the parents and the child. Ido [p. 87-91] outlines advice to educators and parents, showing that he himself is a good educator. Perhaps autistics should educate the professionals?

Henry states “the best early intervention for them as parents would have been meeting and learning from disabled people” [p. 128]. Only disabled people can say what disability feels like. An essential concept needs to be taught to all educators: “[o]nly a person by your side who has total faith and confidence in your having thoughts that are intelligent even when you are out of control will you ever have any hope to be able to handle all the challenges that really never stop happening” [Dillan Barmache, p.113].

Dillan also has a section, “The Guide to Reaching Your Students” [p.117-121], which gives logical and compassionate advice to all educators of nonspeaking autistics. About the state of special education, he states, “it’s not early education, it’s early torture!” [p. 119]. Seeing the autistic as a person with feelings and thoughts, not just a set of deficits, is what is needed. “No kid should ever grow up feeling that they or their neurology are their problems” [Henry Frost, p. 126].

I grew up thinking that I was broken, a set of faulty goods. But now that I am surrounded by friends and helpful family members, I am building up self-confidence. Emma’s private non-special schooling is what should be more common. Philip’s experience of meltdowns when first going to mainstream education is pretty much universal for autistics. It reminds me of when I was having meltdowns in my Montessori nursery school because it was noisy and lacked structure. I struggled to learn there. Like Philip, I resented the condescending way that so many people talk to apraxic autistics; I detested being talked down to in simple terms as a child; I felt relief when I was talked to like an adult.

One must not neglect accommodations in mainstream education for autistics, so a theme in this book is integrating autistics into mainstream education. But, Henry says, “accommodations are not optional for access” [p. 130]. Here in England, the Equality Act and the Autism Act are supposed to enforce ‘reasonable adjustments’ (i.e. accommodations). Yet even now, in 2019, accommodations are often not made for disabled people, in education and employment. Then people’s capabilities are being failed by the system, particularly in special education, which also often expects the pupils to fail. This is why Rapid Prompting Method trainers can be a relief, as they expect their students to be capable.

“No one expected me to fail. They thought I was intelligent, ” says author Rhema Russell [p.168]; . Rhema’s voice is being heard all around the world, she has a gift of getting the message across in quite exquisite language. She also makes a point about repetition not being helpful for many autistics. Many of us get it the first time. I take in everything, there is no filter for me. Yet in my second school, I had things repeated to me often. I didn’t need that.

The book also stresses that inclusion is important, but, as Larry states, we autistics need more than inclusion as mere politically-correctness. We need to be with peers and be a part of their lives, and have friends, just like any other person. Real inclusion means being treated the same, and not exaggerating differences. We need to end the segregation of autistics; it is grossly damaging and it teaches the falsity that autistics are not good for the mainstream world. As to why so many people cannot see that “inclusion is including all learners” [Henry Frost, p. 132], I do not understand. UK schools could learn a lot from the inclusive arrangements in America. (As an example, out of 700 girls at my secondary school, when I was in year 10, I was the only autistic pupil.)

The sensory world of autism is also emphasized in this book. The way that Emma [p.130-131] processes sounds is something I have read about before in a book called The Neurobiology of Autism (2nd edition). When I hear speech, with a moderate amount of background noise, I will hear the words as a series of syllables; I must manually add up those syllables in my mind, to form the words (Emma’s mind “hears all sounds equally and does not discriminate” [p. 150], a common auditory processing disorder phenomenon).

I relate to Emma to a high degree and have watched some of her YouTube videos. She also has an expansive sensory memory: she says “My brain doesn’t think in words the way most people’s do” [Emma Zurcher Long, p. 149], and, “I wonder if I am too aware of my surroundings” [Zurcher Long, p. 148]. I can confidently say that such a memory is almost the rule in autism. I know someone with a full sensory eidetic (photographic) memory, and I myself think cinematographically; my brain never switches off whilst I am awake, and even my dreams are full sensory.

Emma is sensory seeking, especially to music, like me. She does not just love her music, she needs her music. Similarly, Rhema states that “[n]umbers each have their own notes that make a beautiful song” [p. 166]; this is synaesthesia, which is common in autistics. Autistics are often diagnosed as also having ADD/ADHD, but I believe it is in fact the sensory hyper-alertness that comes with autism, that distracts.

This book is a good start in demolishing old beliefs about autism. This is appropriate. I am writing a textbook on the neurobiology of autism and I hope to do this too. Autistics, like the authors here, given the opportunity, are fierce advocates. Communication is a human right. Autistics have been through so much misunderstanding, so much torture. It is vital that people listen to us about our lives.