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.

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.

Statement der Woche:

„Es gibt nichts, was den therapeutischen Effekt für mich hätte wie das Zeichnen und das Malen. Für mich wird das Selbstbewusstsein nicht dadurch gestärkt, dass ich einer Frau nachlaufe, weil ich sie unbedingt brauche, oder dass ich irgendwem nachlaufe, weil ich jetzt unbedingt der Arme bin, der Autist ist, sondern ich stärke mein Selbstbewusstsein dadurch, dass ich selber etwas schaffe. Und das dann präsentiere.“

Gregor Balint ist Autist. Als wir ihn vor zwei Jahren kennenlernten, war er Mitte 40 und hatte immer noch keinen Job, trotz hervorragender Qualifikationen:
Die Matura hatte er mit Auszeichnung absolviert, sein Studium an der Universität für Bodenkultur erledigte Gregor Balint im Handumdrehen. Er spricht Deutsch, Ungarisch, Englisch und Spanisch. Womit er sich schwertut, sind Menschen. Mit den Emotionen der anderen kann Gregor wenig anfangen.

Die Sendung „Am Schauplatz: Happy End“ (ab Min 27 mehr zu Gregor) im ORF ist noch bis 3. September 2015 in der Videothek abrufbar. Mehr zur Sendung hier.

Lack of Impulse Control: When Communication is Overdosed.

Recently, I published a blog text about online dependence leading to a greater dispute about the question whether online communication could be considered as addictive behavior.

I understand the intention of people with autism to refuse their special interests and excessive online communication to be considered as addictive behavior. As I went into behavorial therapy a few years ago, I accidently happened to meet a specialist for prevention of addiction – not online but drugs in general. Addictive behavior is divided into substance (alcohol, drugs) and non-substance (buying, betting, sports, internet). It is caused by loosing impulse control and leads to self-damaging behavior without recognizing it.

As I tapped into the trap of addictive behavior, I was far away from knowing about my neurologic conditions. Executive dysfunctions are core features of autism and 47,XXY. My former therapist didn’t know about my conditions, either, and did consider my online addictive behavior as main reason for difficulties in everydaylife. He tried to shift my focus to (offline) everydaylife but I didn’t succeed because of my verbal communication difficulties.

I tried a cold turkey because I thought my internet behavior is the main reason. Ok, ten years ago, it would have been possible to stay out of the virtual world for a certain period. Today, however, in 2015, situation has changed. Moreover, the majority of my special interests is only possible with aid of internet tools, like weather charts, radar, weather data in general and a lot of other things, like writing blogs, communicating with journalists, etc. A cold turkey would have destroyed me in the long term since I had difficulties to manage my everydaylife.

Therefore I’d like to emphasize it for everyone of you who wants to slam this in my face „I’m not addicted, I need it to survive!!“: A therapist without any knowledge about the cause of „online addictive behavior“ is capable of producing serious damage to a not-recognized autist or XXY forcing him to a cold turkey! Psychologists specialised in addictive behavior should be aware of internet addictive behavior as a symptome, as it is also written in Allen Frances “Saving Normal: An Insider’s Revolt Against Out-of-Control Psychiatric Diagnosis, DSM-5, Big Pharma, and the Medicalization of Ordinary Life

I didn’t make official definitions. We have to deal with offical definitions also for autism which are probably insulting for us, like special interests seen as a symptom of a disability as well as lack of eye contact which is common in other cultures in the world. So please don’t blame me for using the the ICD-10 definition for addictive behavior:

  1. A strong wish or kind of obsession to consume substance causing addiction.
  2. Reduced ability to control start, termination and quantity of the substance.
  3. Physical acute delirium when consumption is finished or reduced.
  4. Proof of tolerance: To obtain the effect of originally lower amounts of the substance, increasingly higher amounts are necessary.
  5. Progressing negligence of other interests and pleasure in favour of the consumption of the addictive drug and/or enhanced expenditure of time to acquire and consume the substance or to recover from the effects.
  6. Persistent drug abuse despite the evidence of clearly damaging consequences (physical, psychological and social)

Source: http://www.suchtmr.de/index.php?id=140

The factors 1-5 seem to be typical for special interests in autism spectrum conditions. Moreover, we feel much more relaxed communicating in a written form instead of a phone call or a face-to-face meeting. I don’t want to list up all advantages. Most of you know them well, otherwise you wouldn’t read my blog.

Despite having great advantages of using internet excessively, I had some serious negative impact I can’t blend out.

In 2003, I missed the famous aurora in Central Europe because I preferred to chat instead of going onto the balcony.
In 2005, I missed a tornado because I preferred to chat in ICQ and write in a weather forum instead of going outdoor.
I cancelled a dinner with a friend he made for me with high effords because I preferred to stay at home and chat. I rapidly lost concentration and focus on reading scientific books and papers well as learning for exams if a computer stood nearby in the same room. I also felt uncomfortable when I couldn’t go online for a longer time than a few hours.

I almost fucked up my studies because I lost the balance of being online and offline (number 5)

Being excessively online (or using a computer in general) had also serious physical consequences: I ate too much fast food because cooking prevented me from staying online. I lacked physical training and was rapidly exhausted in rare occasions like hiking tours. As a result of sitting for hours and days, I tended to have frequent gastrointestinal troubles and constipation. Physical and sleep hygiene has been suffering, too. I couldn’t manage my everydaylife anymore (number 6)

I was asked whether the inability to manage everydaylife is the cause or effect of being online.

In the case of people with social communication difficulties, it might be both of it. On the one hand, social communication and chances to manage everydaylife with internet tools, is a blessing for us. We need it to express our feelings and wishes, opinion and existence. We stay in persistent contact with people we like and people who help us. We will likely have a much harder time without it, especially if the social environment isn’t holding but detrimental. All of us benefitting from this opportunity shouldn’t be blamed as addictive or even pathologic.

I guess… when it comes to therapy and addictive behavior is mentioned either by your parents, friends or therapist, addictive behavior may arise as a primary diagnosis. The reason to write this blog text is, to look behind the obvious symptomes and to look for the true reasons. As ADD, ADHD, autism, diabetes, osteoporosis, etc… may all result from having 47,XXY or related genetic conditions, some primary diagnoses turn out to be wrong (the genetic condition is the primary diagnosis, and autism the result of it).

The term for your behavior may be still addictive behavior, it doesn’t matter for officials if you like it or not.

So why changing behavior which seems to help us?

There are at least some exceptions. There is no black and  white in any behavior.

Whether you’re autistic or not, everyone needs sufficient sleep, good food and physical as well as mental health. It’s important to retain control. Control your feelings when you’re at work (not having emotional outbursts in front of your boss), control spending money if you’re strapped, control to handle your daily work.

I experienced to loose control of nearly any important piece of my life.

To balance online and offline life (our body lives offline and we will die offline, children are born offline), I prefer to do hiking tours when I’m disconnected from the internet. In the nature I can relax, get fresh air, free thinking and develope ideas. I can forget things at least for a short time stressing me. Keeping my sleep hygiene under control means I need to go in bed early enough if I have an appointment or work to do the next day.

Depending on the amount of support in everydaylife, some of us need a job to survive. It’s nice to have special interests like video games or writing hundreds of blog entries. Are they sufficient to earn money with it? Some people with autism are working as game developers, others are writing books or drawing cartoons. Even someone who has a spleen to identify train types may work someday at a railway company. I was fascinated by weather and studied meteorology.

In my opinion, it’s even possible as a person with autism or genetically determined difficulties with impulse control, not to use autism as an excuse to loose control but to look for possibilities to stay fit for everydaylife. Unfortunately, we don’t live in a world where everybody is taking care of your difficulties. Unfortunately, there are still situations where we need these offline skills like having a phone call with officials, going shopping, having a job interview, etc.

I certainly know it’s not easy to learn it, especially when your neurologic package is enhanced by anxiety, traumatic experience and depression.

If I look back, I know it’s possible to increase life quality and still remaining in contact with all online contacts I won in the recent couple of years. Life quality for me includes physical health (enough sport, balanced food, enough sleep), the feeling of well-being when I’m hiking alone in the mountains, as well as managing the to-do-list of necessary and rarely loved things in everydaylife. Sometimes, I fail doing so but I don’t blame myself for it. I know I’m more rapidly exhausted as a neurodiverse person. It’s ok to fail.

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A minor remark on the opinion online addictive behavior is an artificial diagnose to create a lucrative profession for therapists

I had rather negative experience coming with a suspicion of a diagnosis. „You can’t have it.“ – „It’s something different. You pretend to have it“ – „It doesn’t exist, it’s just fiction to feed the pharma industry.“

A lot of people with autism and attention-deficit disorder will experience that, too, especially when it comes to seek for a diagnosis and disclosure afterwards. For those of us having doubts about potential addictive behavior with internet, don’t deny to have had these experiences.

Whether the term addictive behavior and standard therapy to reduce it without taking the environment into account, is the right path when you benefit from more internet usage than the average population, is another question to discuss. However, there are much more than us really suffering from it, or having had at least a history of negative impact (like myself). I’m able to admit that and try to focus on the advantages now and in the future.

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.

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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.

Selbstdiagnose, Selbstakzeptanz (eine Übersetzung)

Übersetzung von „Self-diagnosis, self-acceptance“ von Kirsten Lindsmith

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Diese Woche werde ich über ein Thema schreiben, das mir sehr am Herzen liegt: Das Stigma der Selbstdiagnose. Genauer gesagt sehen viele innerhalb der Autismus-Community solche, die sich inofiziell selbst mit Autismus-Spektrum-Störung (ASS) diagnostizieren, mit Selbsttäuschung, die Aufmerksamkeit suchen und unverhohlen „echte“ Autisten zum Gespött machen. Einfach gesagt ist dieses Stereotyp unfair, priviligiert und ausschließend. Während allzu enthusiastische und lockere Selbst (- und offizielle!) Selbstdiagnosen zum legitimen Problem in der modernen Geistesgesundheit geworden sind, entschuldigt das nicht die schmerzhaftige Polarisierung der „offiziellen“ und „Möchtegerne“-Diagnose-Lager. Weiterlesen

Eine andere Sichtweise zu Autismus-Spektrum-Störungen

(Sinngemäße) Übersetzung eines Artikels von James Moore*, Geschäftsführer von AXYS (Association for X and Y Syndromes)


XXY und weitere X- und Y-Chromosomenvariationen zeigen einen sehr hohen Anteil an komorbiden Krankheitsbildern, beispielsweise ist XXY die ursprüngliche Diagnose und Hypogonadismus eine Folgediagnose, die bei nahezu 100 % der XXY auftritt.

Ähnlich verhält es sich mit Autismus-Spektrum-Störungen (ASD) – sie sind Begleiterscheinungen von XXY. Entsprechend ist ASD kein unabhängiges Krankheitsbild, das zufällig gleichzeitig auftritt, sondern beide sind miteinander verwandt, und ebenso wie Hypogonadismus ist ASD die Folge von XXY.

Um den Unterschied zu veranschaulichen: Ich kenne einen jungen Mann mit 48,XXYY, der zystische Fibrose hat. Beide Krankeitsbilder – beide genetisch – sind komplett voneinander unabhängig. Man nennt sie gelegentlich „Doppeldiagnose„.

Warum ist das wichtig? VIELE Individuen mit XXY werden zuerst mit ASD diagnostiziert.  XXY könnte (oder auch nicht) später entdeckt werden. Unterdessen wird ASD behandelt, als sei es DIE ursprüngliche oder EINE ursprüngliche Diagnose. Wenn sowohl ASD als auch XXY diagnostiziert werden, werden sie wie eine Doppeldiagnose behandelt. Aber im Fall von XXY ist ASD eine Begleiterscheinung von XXY.

Der Anteil der Diagnosen für XXY liegt bei etwas weniger als 25 %. Aber, wie ihr wisst, ist eine ASD-Diagnose so häufig, dass die nach meinem Wissen neuesten Zahlen mehr als 1:80 angeben. Die Gefahr besteht, dass eine Person eine ASD-Diagnose erhält und die Suche dort endet. Tatsächlich jedoch offenbaren VIELE genetische Diagnosen ASD als komorbide Diagnose. Wenn also ein Kind eine ASD-Diagnose erhält, sollte die Suche nicht bei ASD aufhören. Das sollte der Auftakt für die Suche nach der WIRKLICHEN Diagnose sein. Unglücklicherweise ist das viel zu selten der Fall.

ASD und die Behandlung von ASD ist entscheidend. Ich möchte hier in keinster Weise andeuten, dass sie unwichtig ist. Aber wenn ein Kind mit ASD diagnostiziert wird und die Suche dort aufhört, sehen wir viel zu viele Kinder, deren Diagnose kaum an der Oberfläche kratzen, und viel zu viel Verwirrung über die Ursache von ASD.

* mit dessen freundlicher Genehmigung, den Text auf meinem Blog teilen zu dürfen

In einem Satz:

Testosteronmangel und Autismus sind Komorbidität/Begleiterscheinung/Folge von der genetischen Signatur XXY, während zystische Fibrose eine unabhängige Diagnose (-> Doppeldiagnose) ist.

***

Meine Anmerkung:

Andererseits endet besonders in Europa, wo Autismus weniger populär ist und die Wartezeiten für eine Autismus-Diagnose aufgrund des Expertenmangels recht lange sind (im Durchschnitt 12 bis 18 Monate), die Suche häufig mit XXY und Hypogonadismus wird als primäre Diagnose betrachtet, die nachfolgend mit Testosteron behandelt wird und für die meisten XXY-Betroffenen war’s das. Die meisten XXY glauben wahrscheinlich, die Ersatztherapie mit Testosteron heilt alles. Zudem richten sich die meisten Autismus-Zentren in Deutschland und Österreich an Kinder und Jugendliche, aber die große Mehrheit der XXY wird im Erwachsenenalter diagnostiziert. Dann ist es noch viel unwahrscheinlicher, zufällig eine zweite Autismus-Diagnose zu erhalten.

PS: Das neutrale condition habe ich mit Veranlagung übersetzt, im pathologischen Sinn würde man Krankheitsbild dazu sagen.

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XXY and other X and Y chromosome variations exhibit a very high rate of related symptoms and comorbid conditions. An ideal illustration is hypogonadism associated with XXY – nearly 100%. The XXY is the primary condition, and the hypogonadism is a related condition that is there as a result of XXY.

Similarly, autism spectrum disorders (ASD) are conditions that are an outgrowth of and related to the XXY. ASD is not an independent, unrelated condition that appears coincidentally. The two are related, and XXY is the source.

To illustrate the difference, I know a young man who has 48,XXYY and he has cystic fibrosis. These two conditions – both genetic – are wholly unrelated. One is not a comorbid condition of the other. They are what is sometimes called a „dual diagnosis.“

Why is this important? MANY individuals with XXY are first diagnosed with ASD. The XXY might (or might not) be discovered later. Meanwhile, the ASD is treated as if it’s THE primary or A primary diagnosis. If ASD and XXY are both diagnosed, they are treated as if they are dual diagnoses. But, in the case of XXY, the ASD is an outgrowth of the XXY.

Diagnosis rates for XXY are slightly less than 25%. But, as you know, ASD diagnosis is so prevalent that the last numbers I heard are greater than 1:80. The risk is that a person gets an ASD diagnosis and the search ends there. In fact, however, MANY genetic conditions exhibit ASD as a comorbid condition. So, when a child is diagnosed with ASD, the search should not end with ASD. That should be the starting point for the REAL diagnosis. Unfortunately, far too often, that is not the case.

ASD and treatment for ASD is crucial. I’m not in any way suggesting that it’s unimportant. But when a child is diagnosed with ASD and the search ends there, we see far too many children whose diagnosis barely scratches the surface, and far too much confusion about the source of ASD.

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My remark:

On the other hand, especially in ctrl europe where ASD is less popular and waiting time for ASD diagnosis is very long (1-1,5 years in average) due to the lack of ASD experts, the search often ends with XXY and hypogonadism is considered as the primary diagnosis which will be subsequently treated with testosterone and for most XXY people, that’s it. Most XXY probably believe that TRT will cure everything. In addition to that, most ASD centers in Germany and Austria are addressed to children and adolescents but the vast majority of XXY will be diagnosed in adulthood. Then it’s far less likely to obtain a secondary ASD diagnosis by chance.

Summary and additional information by the AXYS brochure: http://www.genetic.org/Portals/Public/Brochures/AXYS/XXY/Brochure.pdf