thoughts and ideas about XXY

some thoughts ….

– a survey of XXY about being left-handed or right-handed

( I recently found out with help of an autism specialist that I’m actually left-handed explaining a lot of difficulties with direction of rotation since childhood)

– a survey of XXY about enhanced sensory perception (yes/no, and which senses are affected most often: hearing, visuals, taste, tactile, smell)

(there are communalities between small-scale polls in autism forums and the british XXY forum, both resulting in enhanced sensory issues with hearing and visuals)

if ADD/ADHD are rather symptoms than syndroms (about 50 % of people with autism also have ADHD, about 60 % of people with XXY have also ADHD), and mainly the result of different sensory perception…. it would mean that XXY is one of many possible conditions to obtain a different perception in general.

The idea of, e.g. self-stimulating behavior or special interests as a strategy to manage too much incoming information, social stress, sensory overload, mental overload, etc… is relatively new (but included in the latest DMS-V for diagnosing autism spectrum conditions). If both behavior (stimming and special interests) is less defined, people have to look for other „bad“ copying strategies, like frequent meltdowns, attention deficits, hyperactivity, etc…

(in the few studies about autistic symptomes in XXY, XXY reveal less special interests, repetition behavior as non-XXY autistic people, which could mean that XXY are less able to self-regulate themselves)

Attending symptoms like bad time management, organisation, planning, etc… are shared by all conditions (XXY, ADHD, autism) as a result of executive dysfunctions (something’s working wrong in the frontal lobes).

For a long time, in Germany even now, nobody thought of communalities between these conditions because all symptoms were related to the lack of testosterone. This is another fact I’m quite curious about because hormone imbalances are also reported in autism (and gender dysphoria seems to be more frequent in autism than in the general population), and some autistic women reported too high testosterone values.

I guess the discussion about these relations often stutters because of the usage of the term „autism“: Autism is highly negatively connotated. Nobody wants to be referred to. Parents are often shocked even hearing about this possibility. I approach this topic rather from bottom-up thinking. I gather as much information as possible trying to puzzle it together. I follow the principle of neurodiversity, i.e., the different perception doesn’t express a disorder but a difference. Maybe, this approach gets lost in this strong desire of having categories and stamps, coming with DSM-V and diagnosis (good read: Frances, Allen (2013). Saving Normal: An Insider’s Revolt Against Out-of-Control Psychiatric Diagnosis, DSM-5).

My intention is not to put XXY in additional categories but to destigmatize the existing categories.

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Why I support N#mber

While the german version N#MMER already launched, the english version will be available soon in September 2015 and the worldwide first magazine for people with ADHD and autism edited and written by concerned people themselves. You’ll read interviews with Temple Grandin and Sascha Lobo and…

https://nummer-magazin.de/ see also https://twitter.com/Number_Magazine

a text about 47,XXY as symptomes of ADD/ADHD as well as autism are more prevalent in people with 47,XXY. In my opinion, the magazine covers a lot of difficulties concerning the behavior of people with 47,XXY. I had light bulb moments in nearly every text. As I wrote my text for N#MMER in October 2014, I didn’t have such profound knowledge about 47,XXY, and I looked for proof for any statement in the article. It’s the reason for which the text might have appeared in a school’s magazine rather and is clearly different compared with the other texts. Anyway, I hope I could raise awareness towards the characteristics of Klinefelter/47,XXY. American self-support organisations (like AXYS) assume that a certain number of people with 47,XXY is present among people with autism and ADHD.

To clarify: 47,XXY =/= autism spectrum disorders! The prevalence for autism (and ADHD) is significantly enhanced but far away from 100 % (rather between 10 and 30 % for autism).

Autism Spectrum Disorders and 47,XXY:

Figure 1: The diagram shows the results of the Social Responsiveness Score (SRS) measuring the degree of autistic traits.

  • control group (con): 25
  • extra X: 65 (cut-off for autism: 70)
  • diagnosed people with autism (ASD): 95

Source: https://vimeo.com/130199302

Fig 1. ADI-R-Score

Figure 2: The result of the ADI-R test of autism in the three core domains. The horizontal line depicts the threshold value for clinical relevance, the points mark the individual persons with 47,XXY.

10 persons lied above the cut-off in all domains, 11 persons in 2 domains and 13 in one domain. 17 persons were below the cut-off in all domains. The most prevalent domain has been communication (domain 2), the rarest domain has been stereotype behavior (domain 3). Altogether 27 % of people with 47,XXY fulfilled the diagnose criteria for autism spectrum disorder.

Source: Bruining et al. (2009) bzw. https://factsaboutklinefelter.com/verhalten/

ADHD and 47,XXY:

  • Brian B. Doyle (2006) estimated 80 %
  • Tartaglia et al. (2012) found about 36 %,with the vast majority favoring the inattentive subtype (ADD)
  • Cederlöf et al. (2014) examined 86 000 controls and 860 47,XXY: 6 times higher risk of autism and ADHD.
  • Skakkebaek et al. (2014) founds 63 % ADHD in 47,XXY

Thus there is strong evidence for a link between 47,XXY and ADHD/autism, besides the fact all three conditions show major impairments of executive functions.

  1. Bruining et al. (2009) suggests in figure 2 that domain 3 (rituals, routines and obsessive behavior) is weaker in 47,XXY than in idiopathic (male!) autism.
  2. Tartaglia et al. (2012) states that the quiet subtype of ADHD (also called ADD, without hyperactivity and impulsivity) is dominant in 47,XXY.

Speculating:

People with autism who reveal less symptoms of domain 3 (rocking, flapping, obsessive behavior, mainstream special interests) may be easily overlooked (-> high number of unknown cases in girls and women as well as ‚quiet‘ boys and men).

About 90 % of media reports about attention-deficit disorders deal with hyperactive and impulsive behavior although only 10 % of all tests confirm this diagnose. 30 % of all diagnoses present the inattentive subtype with quiet, non-disturbing dreamers. (the remaining 60 % present the combined type), source: http://weltsichtig.de/typisch-adhs-aber-halo/

Thus there is a large number of unknown cases, again in girls and women with ADD but also quiet boys and men).

If the phenotype of 47,XXY is similar to that of females with ADD and/or autism, both neurologic conditions will be discovered more infrequently in 47,XXY (boys with 47,XXY are often described as shy, passive and quiet).

Result:

Therefore it is important to use any opportunity to address these potential secondary diagnoses as therapeutical approaches, national support and accomodations are much better for people with ADHD and/or autism than for people with a diagnose „Klinefelter syndrome“. Moreover, addressing the hormone deficit is not sufficient to treat all side-effects of having Klinefelter syndrome:

Surprisingly, testosterone levels were not associated with these psychological and social health measures, even though low testosterone has been widely believed to underlie many of these symptoms. “Based on this finding, it is not clear that the testosterone therapy commonly given during puberty will remedy many of the problems that children with Klinefelter syndrome experience,” says Dr. Fennoy.

Whether hormonal therapy plays a role during development or not, the researchers emphasize that early intervention to address psychosocial health risks will help patients and their families manage some of the chronic aspects of Klinefelter syndrome.

Source: http://newsroom.cumc.columbia.edu/blog/2015/08/25/developing-a-new-tool-to-detect-a-frequently-missed-sex-chromosome-disorder-in-boys/

What people with 47,XXY and relatives can do:

If you have the feeling there is more to you than low testosterone values and associated infertility, go to a psychiatrist or psychologist.

When people with 47,XXY are bullied in school, physical appearance may be the cause (weak muscles, body composition, breast development, shame having a shower or in the changing room) but also autistic behavior (difficulties with coordination, shyness, bluntness, naivety, imitating others, isolation and more prone to be a victim). Please take care of your children not to be in agony throughout their school time! They will suffer from bullying, post-traumatic anxiety and depression also throughout their lifetime.

Receiving a dual or secondary diagnose will provide additional therapy approaches and support besides hormone replacement therapy.

It’s essential to inform your environment and the relative’s environment about 47,XXY. If physical symptomes are merely present but behaviorial symptomes are more obvious, it probably makes no sense to hold a long talk about Klinefelter syndrome. A lot of people who are not familiar with Klinefelter may conclude that Klinefelter is equivalent for hormone deficit, needs hormone therapy and subsequent all deficits will be cured. Then it’s possibly more senseful to inform about the secondary diagnose. The genetic reason is rather interesting for academics.

Draw your information and guidelines from concerned people themselves! I linked numberous autistic bloggers in my blog writing about their life and everydaylife with autism. Be skeptical when doubtful things arise like cure of autism with helpf of diets, glute-free food, homeopathy, MMS, etc. A great majority of enlightened people with autism rejects ABA and Autism-Speaks.

Read and spread the word for N#MBER! Diagnosed 47,XXY could be helped with additional diagnoses addressing their psychosocial health. Diagnosed people with autism and/or ADHD might have a genetic underpinning of their presumed primary diagnose. It doesn’t mean that the diagnose is wrong but physical health may also play a role, like enhanced risk for cardiovascular disease, diabetes, osteoporosis, autoimmune disorders, and cancer.

What is mild autism?

Current autism diagnosis in Europe still refers to ICD-10 /DSM-IV where autism is divided into several categories like infantile autism (Kanner autism), Asperger’s syndrome, high-functional autism and pervasive developmental disorder not otherwise specified (PDD-NOS) which addresses to autism as social communication disorder without significant stereotypical behavior, restricted interests or rigid routines.

In the US, the DSM-V is already introduced merging all subtypes of autism into autism spectrum disorders, and determining severity or degree of support with additional numbers.

Most of the subtypes mentioned above are grown historically. Asperger’s syndrome has been called after the Austrian psychiatrist Hans Asperger while Kanner autism has been called after Leo Kanner. High-Functional Autism (HFA) is said to be classic autism from early childhood but with higher intellectual abilities (Tony Attwood doubts the differentation in HFA and Asperger’s syndrome is necessary). PDD-NOS covers the atypical autism when core autism symptomes are present but the development is atypical (which is often the case with 47,XXY-people).

In any case, there are a few key features of autism present in all subtypes:

  • enhanced sensitivity to sensory stimuli (sensory processing disorder, high emotional sensitivity, impaired gross and fine motorics) as „intense world syndrome“
  • different way of thinking, oftentimes pattern or visual thinking
  • difficulties to pick up social cues, prosody, facial expressions, reading between the lines

In some journals, self-support guides and parental reports, Asperger’s syndrome and PDD-NOS are considered as mild autism, attempting to euphemize the consequences of this diagnosis.

The perspective of mild autism may arise from the absence of

  • intellectual disability (i.e., IQ < 70)
  • rigid routines and rituals, stereotypes and repetitive behavior (making everydaylife and employment difficult to organize)
  • inability to speak
  • necessity to have full-time health care or special education/schools.

However, if you ask people with Asperger’s or PDD-NOS themselves, they will probably answer very different how severe they are affected. A study of Asperger’s and HFA asking them about their life quality has shown that the entire lifetime was characterized by ill-defined social development. Social difficulties are highly dominating throughout childhood and youth and will slightly decrease during adulthood. Growing up, the motivation to encounter social contacts increases but friendships are still relatively seldom reaching adulthood. The lack of partnership is specific for HFA/Asperger’s. With respect to therapy and support, comprehension, acceptance and emotional support are considered as most helpful for these persons.

*

Even if someone with Asperger’s syndrome seems to function well in everydaylife, they might suffer from difficulties having and maintaining friendships, from continuous misunderstandings and erraneous picture of their personality. Someone who tends to talk in monologue might be perceived as arrogant and selfish while the opposite is actually the case. What you don’t realize, either, is the degree of sensory processing disorder. They may feel painful when background noise is given and are unable to have a conversation in a loud environment, which is a serious problem going to a busy party, into a loud restaurant or to a concert but also at work when many distractions are present.

You may not notice they have great difficulties with executive functions like planning, organisation, dealing with sudden changes, new things or simple housework stuff. They might have difficulties to accept a phone call or to call a stranger as it is often the case with public authorities. They would enjoy many opportunities but are unable to predict the unexpected to realize it.

As a summary, mild is a relative term because it is a judgement from outside.

  • Some severely autistic people want to be freed from their cage – they’re suffering from high amounts of incoming sensory stimuli.
  • Other severely affected autists may deal better with their situation and perhaps don’t consider themselves as severely affected.

The same holds true for so-called high-functional or Asperger’s or PDD-NOS autists:

  • Some of them might deal so well they are not even officially diagnosed. They have a job, partnership, kids and are satisfied with their life quality.
  • Some are diagnosed soon or later during their lifetime but are still able to manage well their situation.
  • And quite a lot of them are considered to have mild autism but suffer from lacking comprehension and acceptance.

If they tell about their suspicion or even official diagnosis, nonautistic people tend to imagine stereotypic pictures of classic autism and are unable to transfer this prejudice to their close friend or colleague or son/daughter. They may look at their „confession“ as an excuse instead of a reason for their odd behavior. They still believe it would be sufficient to „change the attitude“, „pull one’s socks up“ and „buck up“. To be seen as someone who pushs too hard is very disappointing and hurting for people with „mild“ autism. Life is difficult enough. Comprehension would relieve the lonely pain.

So if you talk or write about mild autism, especially about someone you know or want to describe, just ask them before if they agree with you.

Difference diagnosis and effect on support

I don’t want to spread clichés, so please correct me if I’m wrong. However, if I look at the institutionalized structures, support groups and further advice for people with disabilites in general, also referring to the Disability Act guranteeing the rights of disabled people, there are much better conditions in the United States than in Europe. In Europe, the fundamental rights are presented in the constitution law and in the declaration of human rights. There is also a UN convention concerning people with disabilities which was signed by the Austrian Government in 2008. Anyway, Europe is obliged to treat these people in a similar way like in the USA:

Believe in your strengths and doubt your weaknesses, otherwise they will win.

If you invest in strengths, the weaknesses can be overcome. It’s benefit thinking, not deficit thinking. In Europe, especially in Austria (not to speak from countries in eastern Europe …), people with disabilities are seen as disability instead of benefitting from their strengths. Companies prefer buying themselves free instead of employing a person with a disability. There is too much prejudice and probably thinking in terms of „how much does it cost to modify the working place“ or taking special care of that person. They are seen as ballast and talents and special interests could be easily overlooked.

To my current knowledge, picture of autism in the USA is quite different from UK, Germany or Austria, except for some positive exceptions like companies who employ especially autists to benefit from their computer abilities or general ability to focus on their special interest in a very rigide way; which could be seen also critical as stereotypic picture of autists as computer nerds could be reinforced. Otherwise, numbers are disastrous concerning unemployment. Probably 80 % of Germans within the autistic spectrum are without job, about 40 % for a longer time, in UK only 15 % have a full-time job, some references in Austria even say nearly 100 % are unemployed. What a waste of talent!

As an autist you could have a great knowledge in your special interest, enhanced perception of details which could be used for detecting mistakes and many of them are also visual thinkers or good in expressing themselves in a written form. I can’t list all the advantages people in autism spectrum have – there are better resources than me, e.g. Temple Grandin, Rudy Simone or numberous blogs from autists all over the world who show you their ability. Tony Attwood, e.g., made a list of positive traits and characteristics of autism.

Main problem is however that talent and knowledge could be overwhelming but bad communication skills tend to be present in the foreground and overlap the better skills. And that’s also true for some Klinefelter’s though unemployment rate appears to be not such high as with idiopathic autists. However, irrespective of the underlying mechanisms and resulting diagnosis – if you have difficulties with social communication and interaction, people will likely underestimate your potential.

I really like Christopher Nolans ‚Batman trilogy‘, I could watch it every week, and I especially like the first part.

But it’s not who you are underneath, it’s what you do that defines you.

Though I’m inclined to agree with that statement, it’s appears in another light if you look at in the perspective of someone with impaired social skills. It’s his behaviour surprising, confusing the employer and will likely turn him into rejecting the respective person.  He could have good skills in his area of expertise but he will be unable to sell well in front of colleagues and bosses.

Here is the point where the diagnosis fits in, now with focus on Klinefelter’s syndrome and especially these ones fulfilling many but probably not all autism criteria. The child, adolescent or adult within Klinefelter’s spectrum  could have nearly the same difficulties in social communication and interaction like the child, adolescent or adult diagnosed with autism spectrum condition. However, there is not any handbook or advice for Klinefelter’s children and as long as they don’t let them be diagnosed with autism as well, they will not obtain respective support.

For an adult with Klinefelter’s syndrome revealing the same symptomes like Asperger’s syndrome, it plays a subdominant role whether childhood fits into the clinical picture of Asperger’s. It’s more an academical question if classic autistic traits could be observed. The adult wants to know how to manage current life, in the 40s or 50s. Most of the research deals with children and adolescents, not with adults, unfortunately, and there is little known about the effects of testosterone therapy on adults starting in adulthood, with respect to the behaviour. Most of the testosterone benefits do not affect the diagnose criteria for autism though improving relationship to peers was observed in studies. Bad communication skills could probably endure the therapy and maybe still present after years of testosterone substitution. Moreover, sensory integration disorder is also present with Klinefelter’s and could affect the working environment in a class room or office, too.

So there are two ways to obtain support for men with Klinefelter’s syndrome.

  • Either Klinefelter’s are generally tested for autism (and ADHD though the majority will obtain ADD, if present) and further strategy is to follow the approach for autists …
  • or we need just similar structures like in USA, with detailed descriptions of behavioral and sensory issues which are probably not related to testosterone deficit, and subsequent guidelines how to make things easier for concerned persons in school, at university, on the job and in everydaylife.

As long as we do not have these structures, there will be frustrated some, not all men with Klinefelter’s who suffer from many similar difficulties like people with autism but they just have the „wrong“ name of their diagnosis and will be misunderstood or even ignored.

People with autism and Klinefelter’s syndrome share two of the main criteria for autism: They tend to avoid eye contact and suffer from enhanced sensitivity to sounds, movements or touch, but could also benefit from their enhanced detail perception and ability to focus on their special interest.

Of course, there are differences, e.g. in brain architecture, but as already mentioned, from a current point of view, it only plays an academical role and is not an excluding criteria for autism, as long as it is not proven that testosterone could cure all autistic-like traits in Klinefelter’s spectrum.

Just to sum up a bit:

I strongly recommend to believe in your strengths. It does not make sense to solely focus on your weakness.

Good communication skills are important but should not distract from a person’s talent. For communication, you always need two persons. Use your language as precise as possible.  Don’t be upset if opinions are expressed in a direct and honest way. Smalltalk and wrapping criticism in a smooth way are probably not our best skills.

We need a better understanding of what Klinefelter’s syndrome comprises with respect to sensory and behavioural effects which are not covered by testosterone therapy itself. As a result, we could develop similar structures and guaranteed rights for Klinefelter men, too.

Long way to go but avoiding a long rocky path will continue status quo which is – in my opinion – not satisfying. And aside from Klinefelter’s syndrome, prejudice is also given for ADHD and autism. We are all in the same boat.

Stay tuned and spread the word !

Discovering myself

Since I know there is much more about this additional X-chromosome than testosterone deficit, three months are gone and now I see myself with different eyes.

That new episode of life startet with a scientific paper which I luckily received in full text form. I always had a suspicion being different. I also could not recognize myself in many symptoms of  Klinefelter’s diagnosis. However, I had trouble putting words to it. Of course, I noticed all over the years not getting ahead. Communication has often been doomed to failure. Difficulties arose when I expressed feelings, especially expressing them in a way to be understood. Reluctance to be interested in what peers do and talk about. I also think about assets going beyond the line which would be typical for peers but occasionally became obsessive.

I always occupied myself in an excessive way. Hours and hours, several days. Social contacts became secondary. Better writing another case study to a scientific event, putting another paper on the website. I loved exhaustively researching, spending much time although it was not demanded by my professors during studies. I always did much more for topics I was interested in. I came out of my shell and contacted even external teachers because I liked writing, I enjoyed realizing my english language knowledge.

Feedback encouraged me to continue. It’s the main reason I don’t have much respect to write e-mails to psychologists, physicians and geneticists, just by chance, as most of them will answer.
I realized my strengths by creating two wonderful websites providing a compendium of my special interest which is divided in several subinterests. I could fill books with it.

That passion of writing and irrepressible urge to inform is an important part of myself I cannot exclude. It is not what is commonly accepted for Klinefelter’s syndrome: „Learning difficulties, dyslexia, …“ In contrast, I read since I think and I write since I read. If I were able to set up dialogues, I would have become a professional writer. Sadly I could never imagine how a typical dialogue looks like as I was not able to take the other one’s perspective. Theory of mind – again and again putting a spoke in my wheel. Anyway, my passion to write did not lessen, it rather shifted from fiction to describing everyday life which is exciting enough instead of creating fictional stories.

The result of my IQ test in childhood suggested skills in natural science and weakness in language. In fact, my grades revealed the opposite. My processing time in nature science was too slow to keep up with peers, to solve problems – at least I suppose it now. In contrast, I felt comfortable with languages. I was the only man choosing french (instead of english) for intensive course. Speech has been much more difficult than writing and reading. Logical sentences. I was good in vocabulary. I also taught myself Latin, I read in an old (1970) dictionary for foreign words at home. I learn dialects quite fast, I understand them, I become familiar with the figures of speech and special vocabulary.

I have lots of fun with it and I found a text which took the words right of my mouth: It has been so relieving just to be understood. I have written so much about it without knowing why. The ability to learn languages rapidly but also the necessity to imite other people. I tend to do it too often, though, to send in the frequency of the counterpart instead in my own one.

Each week I am able to put another piece of the puzzle together, another mystery in childhood is illuminated. I cannot fade out days with anger due to the lack of skills to deal with other people, irrespective of a bunch of total strangers  releasing a flight instinct (save being drunk enough, like during a concert) or people being close to me. So it is not necessarily sufficient to know the cause for some behaviour. To know the reason is not the solution at the same time. It is not easy to outthink your mind. Rational thinking is freezing.

You do it because you have something and it leads… ok, that’s a statement, so what? I try to get rid of cursing about what still is not working, but rather try to distract me. I want clarity. My thoughts are free. My environment is inclined to say „you go completely overboard for the idea of any association of Klinefelter’s syndrome with autism!“ For me, however, it’s a feeling like a childs curiousity during first moon landing. Curious about what happens actually and to make a question time out of it.

My question time grows into a period of three months. Since my first contact with the fundamentals of Klinefelter’s and beyond the known facts, my research shed light into the darkness, revealed the basics of something I did not expect. Despite the fact it confirmed a gut feeling much more has been released lying under the surface for a very long time.

As usual I am rational in-depth, despite acting very touchy-feely to the environment. And I’m asking myself: Why? What are the effects of this lack of testosterone in my body, was does it mean to have an additional X chromosome?`Why is my amygdala smaller than with men having typical 46, XY karyotype? How does this bunch of hormones, genes and brain activity interact?

While I’m reading mainly scientific papers published in the recent couple of years, I’m still at the beginning. Suddently, my interest is as big as with my first special interest influencing my life for about 23 years.

For which reason should I stop this search? I act rationally, I know what I do NOT have. I also suppose many XXY men exhibit atypical autism traits if classified with autism spectrum disorder at all. Less manierisms, less stimming, less routines. However, I do NOT know that! As I contacted other XXY men in the first place, I did not know anything about behavorial issues! Autism was something special known from the unluckily stereotyping film Rain Man. So I did not recognize or payed attention to their behaviour. I was not even able to recognize myself in their biography.

In any case, dealing excessively with my life, my being and my underlying genes is a strong feeling of relief, like a whole rock breaking. Every light-bulb moment encourages my self-conciousness to take the bulls by the horns, stepping forward into the public. What could hurt me know? I know why, I work actively against my weaknesses. I DO something.  What else does someone want to blame me for?