ISBN Print: 9783525701966 — ISBN E-Book: 9783647701967 filewith Down syndrome 2,000 people and...

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ISBN Print: 9783525701966 — ISBN E-Book: 9783647701967© 2016, Vandenhoeck & Ruprecht GmbH & Co. KG, Göttingen


Vandenhoeck & Ruprecht

André Frank Zimpel

Trisomy 21What we can learn from people with Down syndrome

2,000 people and their neuropsychological findings

With contributions from: Kim Lena Hurtig-Bohn Angela Kalmutzke Torben Rieckmann Alfred Christoph Röhm


With 87 Figures and 7 Tables

Bibliographic information published by the Deutsche Nationalbibliothek

The Deutsche Nationalbibliothek lists this publication in the Deutsche Nationalbibliografie; detailed bibliographic data available online: http://dnb.d-nb.de.

ISBN 978-3-647-70196-7Cover image: © philidor – fotolia

© 2016, Vandenhoeck & Ruprecht GmbH & Co. KG, Theaterstraße 13, D-37073 Göttingen / Vandenhoeck & Ruprecht LLC, Bristol, CT, U.S.A.www.v-r.deAll rights reserved. No part of this work may be reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without prior written permission from the publisher.Produced in Germany.

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Table of contents

Foreword . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9

I. Genes and societyA silent cognitive revolution . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 11Well meant . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12Mentally disabled, even before birth? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13Three times 21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14Has our society decided? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15Down’s Heritage . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1747 chromosomes rather than 46 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 18Mutations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19Eugenics, compulsory sterilization and euthanasia . . . . . . . . . . . . . . . . . 20Fear of low IQ . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22Genetics and epigenetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23A picture is worth a thousand words . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 26

II. The brain and intelligenceHead size and intelligence tests . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 27IQ as gatekeeper . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29Why being different is normal . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 30Am I stupid? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 32Genes for brain growth or stress in early childhood? . . . . . . . . . . . . . . . 33Brain growth and evolution . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35Birdbrained geniuses . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 36The human brain is a social tool . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37The brain as a learning tool . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39Accelerating thinking through abstraction . . . . . . . . . . . . . . . . . . . . . . . . . 40Mouse memory . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41The seat of learning . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43Memory is distributed across the brain . . . . . . . . . . . . . . . . . . . . . . . . . . . . 45Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 46


Table of contents6

III. Neurotransmitters and neuroenhancementEnzymes: catalysts in the brain . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 48Acetylcholine and the fear of Alzheimer’s . . . . . . . . . . . . . . . . . . . . . . . . . . 50Donepezil: doping for the brain . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 52How the brain neutralizes medication . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 54Dopamine: addictive stimulation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 55Glutamate: more than just a matter of taste . . . . . . . . . . . . . . . . . . . . . . . . 57Memantine: hope for a learning pill . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 58GABA: inhibit inhibition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 60Basmisanil: release the brakes in the brain . . . . . . . . . . . . . . . . . . . . . . . . . 61Brain doping: cleverer by prescription? . . . . . . . . . . . . . . . . . . . . . . . . . . . . 62Neuroenhancement or essential drug? . . . . . . . . . . . . . . . . . . . . . . . . . . . . 64Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 65

IV. Neurodiversity and attentionSerotonin, an endogenous antidepressant . . . . . . . . . . . . . . . . . . . . . . . . . 66Oxytocin: cuddling depression away . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 68Norepinephrine: rock ‘n’ roll in the brain . . . . . . . . . . . . . . . . . . . . . . . . . . 69Humans are different and mice too . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71Neurodiversity instead of neurodegeneration . . . . . . . . . . . . . . . . . . . . . . 72Removing the fear of aging . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 74Studying at university with trisomy 21? . . . . . . . . . . . . . . . . . . . . . . . . . . . 75Learning from rabbis and nuns . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 76Segregation already begins with speech . . . . . . . . . . . . . . . . . . . . . . . . . . . 78Empathy for neurodiversity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 79Motor learning and the 21st chromosome . . . . . . . . . . . . . . . . . . . . . . . . . 81Acetylcholine in the striate body . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83Emotion and the 21st chromosome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 84Short-term memory and the 21st chromosome . . . . . . . . . . . . . . . . . . . . 86Learning in sleep . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 88At the focal point of the stream of thoughts . . . . . . . . . . . . . . . . . . . . . . . . 90The bifurcation diagram: calculation and hypothesis . . . . . . . . . . . . . . . 92Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 95

V. Attention and memoryNavon figures . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 96The overall shape and details . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99Dice-pip and interference images . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 102Abstraction means “draw away from …” . . . . . . . . . . . . . . . . . . . . . . . . . . . 106


Table of contents 7

The scope of attention . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 109The magical number four . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 110Measuring the scope of attention . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 112Memory and matching pairs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 116Reveal the numbers in sequence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 120Object permanence . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 122Observe and remember causalities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 123Abstract thought in the pushchair . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 126Mouse and duck theater . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 127Supersigns and abstraction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133

VI. Imitation and motor learning Alfred Christoph RöhmJuggling in a small attention window . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 135Auditory and haptic scope of attention . . . . . . . . . . . . . . . . . . . . . . . . . . . . 136Proprioception – endogenous perception . . . . . . . . . . . . . . . . . . . . . . . . . 138Scope of attention for proprioception . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 140Body percussion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141Successful imitation depends on the number of micromotions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143Dialogic learning requires creativity . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 144Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145

VII. Speech and thought Kim Lena Hurtig-BohnThe window to a child’s head . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147The prefrontal cortex and private speech . . . . . . . . . . . . . . . . . . . . . . . . . . 148The development of private speech in childhood . . . . . . . . . . . . . . . . . . . 150Private speech in pedagogy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 151The zone of proximal development . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 152Private speech and trisomy 21 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 153Private speech in autism spectrum disorders . . . . . . . . . . . . . . . . . . . . . . . 155Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 156

VIII. Cognitive development and mathematics Torben RieckmannTrisomy 21 and mathematics? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 158Trisomy 21 and dyscalculia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 159Clustering and supersigns . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 161The power of five . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 165Deliberately use teaching materials . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 167


Table of contents8

Appropriate visual aids . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 170Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 174

IX. Communication and emotion Angela KalmutzkeIt’s great that you have a child with Down syndrome! . . . . . . . . . . . . . . . 175Respect for the essence of and confidence in learning ability . . . . . . . . 177On life and death . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 179Late termination of pregnancy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 181Opting for life . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 183The social matrix . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 184Behavioral problems today, personality disorders tomorrow? . . . . . . . . 188Promoting self-worth . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 191Summary . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 195

Afterword . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 196

Literature . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 200


Foreword

This book is dedicated to the many people with trisomy 21 and their families, without whose initiative, cooperation and encouragement it could not have been published. The support of the HERMANN REEMTSMA FOUNDATION made this representative study possible, the results of which have already led to practical outcomes.

The history of mankind is replete with examples where groups of people were considered to be less intelligent, often due to external features such as poverty, origin, skin color, gender, physical proportion, language, ability to respond, dexterity, cognitive ability, etc.

For a long time, it was assumed that a genetic disposition such as trisomy 21 enables predictions to be made about overall personality development. But who could have ever imagined that people with trisomy 21 (Down syndrome) would also be capable of earning a university degree?

On the one hand, intelligence tests have helped dispel many prejudices as scientifically untenable. On the other hand, they have promoted the speculative theory of innate intelligence, the most important cornerstone of which remains trisomy 21. Evidence of congenital giftedness is, however, rather vague and, jus-tifiably, very controversial. This is because, as with any other special ability that can be developed, intelligence has at least three factors: physical potential, inner drive and opportunity for social development.

The intelligence quotient is therefore the intelligence product of innate poten-tial (A), intrinsic motivation (I) and social latitude (S). In summary, IP = A × I × S (where A ≥ 1, I ≥ 1 and S ≥ 1).

If one had exact measurements for each variable, the current intelligence (conceived as the magnitude of a three-dimensional vector) would be cal-culable. This could all too easily entice predictions, which would be, how-ever, excessively wasteful of resources. Since the variables affect one another, the effect would be the same as in computer-generated weather models for weather forecasts.


Foreword10

When calculating temperature, wind speed and pressure, a minute miscal-culation of one thousandth of a percentage (e. g., a light breeze) could confuse the forecast entirely.1

Moreover, it is impossible to determine the precise initial conditions of a human being’s development; as in the case of the weather, the smallest mea-surement errors are unavoidable. Hence, professional weather forecasts are limited to three days.

However, there is a difference: the weather is a complex first-order system. It doesn’t care about predictions, e. g., it won’t rain just to annoy the meteorologist.

In contrast, the human being is a complex second-order system. Such systems are sensitive to forecasts. An example can be taken from the economy: the pre-diction that “banks are running out of money” becomes reality when, due to the prediction, all bank customers suddenly want to withdraw their money at once!

A low-IQ prognosis frustrates intelligence development because it blocks social opportunities. Many parents of children with trisomy 21 have long real-ized this and encourage their children as much as possible. Yet even the best parents in the world need the support of an entire village – at the very least – to raise a child. This book wishes to solicit such public support, as well as develop pedagogical concepts to that end.

Hamburg, December 2015André Frank Zimpel

1 Briggs, J. & Peat, D. (1993): Die Entdeckung des Chaos. München, 96; Coveney, P. & High-field, R. (1994): Anti-Chaos. Der Pfeil der Zeit in der Selbstorganisation des Lebens. Reinbek, 273; Peitgen, H. O., Jürgens, H. & Saupe, D. (1998): Bausteine des Chaos. Fraktale. Reinbek, 54.


I. Genes and society

A silent cognitive revolution

A cognitive revolution, that passed by unremarked for most people, took place over the last decades: the first people with trisomy 21 joined the workforce and some even earned university degrees.

What are letters and algebra to the mental development of people with tri-somy 21? When I first presented this research question, the response was beyond positive:

“The Downies are actually the least of our problems in terms of inclusion. They are easily managed and cooperative when you assign them work. We require research that would shed light on disruptive or severely disabled children. These are the real problem!”

The question: “Is research for such a small minority at all worthwhile?” is repeat-edly asked, even within universities and upon application for external research funding. The research we support should benefit many and be sustainable.”

How should sustainability be defined? Duden, the German-language orthog-raphy dictionary, defines “sustainability” in forestry terms as a long-lasting effect.

But aren’t there many long-lasting effects that could hardly be defined as sustainable, such as the consequences of a serious accident or the protracted illness resulting from an infection?

We will therefore consider another definition. The definition provided on the website of the Center for a Sustainable University at the University of Ham-burg, “[…] Sustainability means nothing more than to take no action of which the consequences cannot be withdrawn”,1 initially appears to be in direct con-trast to the Duden definition.

1 Lenzen, D. (2011): Auf dem Weg zu einer »University for a Sustainable Future« – Zukunfts-fähigkeit in Forschung, Lehre, Bildung und Hochschulsteuerung. https://www.nachhaltige.uni-hamburg.de/kompetenzzentrum.html, accessed 14. 07. 2015.


I. Genes and society12

This definition brings an anecdote by Stanislaw Lem (1921–2006), my favorite childhood science-fiction author to mind. An astronaut lands on a desert planet, where all is suddenly under water. A team of engineers had developed a method to produce water synthetically and therefore transformed the entire former desert planet into a flourishing garden landscape. According to the Duden defi-nition, this is a sustainable benefit, comparable to afforestation on our planet.

The problem, however, was that people no longer required this benefactor, so the latter evolved into a benefactor mafia that propagated the belief that con-stant wading in water is beneficial to health. Whoever objected landed in jail. They therefore further irrigated the planet until the people were literally up to their necks in water.2

Reining in the benefactor mafia on time would have been, in actual fact, sus-tainable. However, the planet lacked a Competence Center for Sustainability, as we at the University of Hamburg have.

Well meant

Is such a “benefactor mafia” merely science fiction? No, the history of mankind is replete with the promise of universal happiness, which, in reality, only helped a benefactor mafia achieve powerful positions and fill its coffers.

The fact that the actors were not even aware of this, despite meaning well, is particularly dramatic. A historical example is medicine in the 19th century. Prior to the introduction of strict hygiene measures in hospitals, it was unusual to disinfect. This was true for both medical instruments and staff.

The discovery of viruses and bacteria compelled the “gods in white” to admit that the same hands intended to heal were culpable of the spread of disease from the pathology lab to the operation theatre.

This was a severe blow to the ego of an entire profession, the self-appointed “gods in white”. However, both selective special needs education and human genetic counseling in the 20th century have for some time been under suspi-cion as benefactor mafia.3

For example, lip-reading classes were intended to aid deaf children. The chil-dren were made to sit on their hands throughout the lessons to prevent com-munication with sign language.

2 Lem, S. (1978): Sterntagebücher. Frankfurt/M., 115.3 Sierck, U. & Radtke, N. (1989): Die Wohltäter-Mafia. Vom Erbgesundheitsgericht zur Human-

genetischen Beratung. 5. Ed., Frankfurt/M.


Mentally disabled, even before birth? 13

However, only less than a fifth of all sounds can be distinguished from lip movements. Spoken language, for the deaf, is like a text filled with gaps, which they have to cognitively fill in. Thus, deaf children had to spend a large part of their cognitive energy in lip reading alone. The opposite of good is not always bad, but sometimes also “well meant”.

This led other people to the false impression that being deaf meant being “feeble-minded”. Furthermore, this prejudice led to another: learning difficul-ties arise only from sensory weaknesses. This prejudice strikes a jarring note – just like a rusty guitar string – in many obsolete German words comprising

“-sinn” (sense referring to perception), such as, “Irrsinn” (insanity), “Schwach-sinn” (feeble-mindedness), “Wahnsinn” (lunacy), “von Sinnen” (taking leave of your senses), etc.4

We now know that sign language is the equal of spoken language. Sign lan-guage, in deaf people, not only facilitates effortless understanding but also pro-motes cognitive development. This is evident in many highly skilled signers, particularly in their superior spatial thinking.5

How would human genetic counseling consider the second example in the case of an unborn trisomy 21 child?

Mentally disabled, even before birth?

People with trisomy 21, Down syndrome, nowadays experience the same preju-dices deaf people formerly experienced. Due to the presence of 47 chromosomes in each cell rather than 46, they are diagnosed as mentally disabled even before birth. Human genetic counseling prepares parents for this. In our knowledge society, governed by a cult of intelligence, this is frequently a death sentence (see also: Fear of low IQ, p. 23).

Should the children see the light of day, despite these adverse circumstances, they still must contend with many prejudices, some of which have the good chance of becoming self-fulfilling prophecies (see also: Foreword, p. 9).

For example, special needs educators thought that learning in very small steps and perceptual learning would compensate for and prevent learning difficulties. There was no denying this until women and men with this syndrome earned uni-versity degrees and doctorates, at least in Japan, Spain, Italy, Israel and the US.

4 Zimpel, A. F. (2014a): Einander helfen: Der Weg zur inklusiven Lernkultur. 2. Ed., Göttingen, 91.5 Sacks, O. (1992): Stumme Stimmen [Seeing Voices]. Reise in die Welt der Gehörlosen [A

journey into the world of deaf culture, and the neurological and social underpinnings of the remarkable visual language of the congenitally deaf.] Reinbek, 11.



This is sensational news from a pedagogical viewpoint: we invited Pablo Pineda, a graduate teacher with Down syndrome, to speak at a conference and, rather than the expected 400 attendees, more than 800 turned up.

In the last five years, together with scientific collaborators and employees as well as students, I’ve examined 1,294 people with trisomy 21. The results showed that people with trisomy 21 benefit more from abstract learning than their neurotypical counterparts and two-year-olds with the syndrome learn first to read and only then to speak – and they understand algebra better than arithmetic.

The 12th World Down Syndrome Congress took place in Chennai, between August 18 and 21, 2015. In India! Where the most abstract concept known to man, which is also very useful, was invented: the zero.

Five delegates represented the University of Hamburg. Of the 540 dele-gates from 41 countries, 77 were people with trisomy 21. We spoke to many of them and also had the opportunity to exchange experiences with several parents and researchers of trisomy 21. The results of my five-year trisomy 21 research were enthusiastically received and discussed by delegates from the various countries.

India was the ideal backdrop for this congress, particularly because this country is home to approximately two million people with trisomy 21. Prenatal diagnosis here is the exception rather than the rule. Despite widespread poverty and high crime rates, hotels here also offer inclusive opportunities, just like the Stadthaushotel in Hamburg.

The Lemon Tree hotel in Chennai is an excellent example: the staff ’s enthu-siasm, approximately 10 percent of whom is people with trisomy 21, completely won us over. All delegates loudly applauded the hotel’s plans to increase this number to 45 percent.

Three times 21

Flashback: Today, March 21, is World Poetry Day. Since 2006, it is also World Down Syndrome Day. In fact, 3.21 (read as three times 21) refers to the tripli-cate 21st chromosome in some people, which mutation causes Down syndrome, in other words, trisomy 21.

Some parents have invited me to Berlin to report on my neuropsycholog-ical research findings, which stem from examinations of about 2,000 people, consisting of more than 1,200 people with trisomy 21. The youngest was five months old and the oldest 73 years.


Has our society decided? 15

I’m now on my way to the lecture. The confusion of graffiti, chalk messages and torn posters pasted over each other on walls, buildings and railway bridges makes for entertaining reading. Mostly faded lettering asks:

“7 billion people: who’s extra?”

Any answer to this anonymously penned question would surely be a hubris. Fertility control is certainly not discouraged by this. One of its responses reads: People with 47 chromosomes! Would the German Federal Ministry of Research have invested € 224,000 in the development of a trisomy 21 blood test other-wise?

Did the German Federal Ministry of Education and Research (BMBF) headed by Annette Schavan (still holding a doctorate at the time) consider the birth of people with trisomy 21 as “avoidable damage”? Whatever. Unlike science, pol-itics is tasked with promoting initiatives that would appeal to a majority. Oth-erwise, you would not win in a democracy.

Science, on the other hand, is tasked with clarifying facts. This is a long-term, laborious undertaking but the most promising way to affect voting behavior in a credible sustainable manner.

Has our society decided?

In a product launch in 2012, the Konstanz company LifeCodexx claimed a 99 per-cent success rate in determining trisomy in the unborn child. The cost: between € 595 and € 825 for a blood test. The product: not a test procedure intended to expose doping cover-ups in athletics, rather a counting procedure that extracts DNA from a blood sample. Should the child’s chromosomal material account for at least four percent of the sample, the increased number of chromosomes could indicate a trisomy in the unborn child.

The most common trisomy is fetal trisomy 21: Down syndrome. Rarer forms are: trisomy 18, trisomy 13, triple X syndrome, XYY syndrome and Klinefelter syndrome (an extra X chromosome). Even Turner syndrome, with only one functional X chromosome in the body’s cells, is thus diagnosed.



true positive false positive

Trisomy 21 99.2 0.09

Trisomy 18 96.3 0.13

Trisomy 13 91.0 0.13

Monosomy X 90.3 0.23

47, XXY 93.0 0.14

Twins with trisomy 21 93.7 0.23

The company LifeCodexx reports on its website (reproduced verbatim):

“If a certain chromosome is present in the cells of the child three times instead of two times as usual, this is referred to as “trisomy”. [Very few such tri-somies that affect autosomes are compatible with life.]6 The most frequent is trisomy 21, in which chromosome 21 is present three times in the child instead of twice. It causes Down syndrome and occurs approximately once in every 500 to 800 births.”7

This is fact. LifeCodexx rejects the allegation that the test is in breach of the rights of people with disabilities:

“Our society has decided for these tests. Now, criticism of this fast approach is petty. … Should these women all submit to an invasive examination, they would unnecessarily risk a miscarriage.”8

Our society has decided. Really? Whoever knows people with trisomy 21 – among family and friends, at the kindergarten, school or work – and has come to appreciate them, can hardly believe this. What exactly is it that we should have decided?

6 This was formerly included in the online text but has since been removed.7 lifecodexx.com/en/expectant-mothers/chromosomal-disorders [Trisomy 21, 18 und 13],

accessed 25. 01. 2016.8 Streckenbach, K: Trisomie-Bluttest: Stark kritisiert, tausendfach genutzt. In: www.spiegel.de/

gesundheit/schwangerschaft/praenatest-und-weitere-down-syndrom-bluttests-kritisiert- aber-genutzt-a-958721.html, 14. 03. 2014, accessed 26. 01. 2016.


Down’s Heritage 17

Down’s Heritage

The British apothecary and physician John Langdon Haydon Down was an enlightened man in the service of science. As a humanist, he was a critic of colonial racism well ahead of his time. From today’s perspective, his views in 1866 sound disturbingly grotesque.

He describes “white negroes”, people of the Malay variety (with soft, black, curly hair, prominent upper jaws and capacious mouths), as well as “typical Mongols” in the journal London Hospital Reports.9 He believed that anatomi-cal characteristics of children, not to be found in their parents, furnish some arguments in favor of the unity of the human species.10

Down’s speculations refer to external characteristics: the more almond-shaped eyes due to the slanted palpebral fissures, the flat nasal bridge and the small crescent-shaped epicanthic fold of skin at the inner corners of the eye, which are typical of people with trisomy 21, may have helped.

Even today, it is common practice to classify people according to external features, e. g., skin color. One therefore still associates black, white, yellow or red skin coloring with different areas of the globe. But what does modern science say?

In the years 2001–2005, human geneticist Noah Rosenberg of the Univer-sity of Southern California in Los Angeles examined 1,056 individuals from 52 populations from five geographical regions: Africa, Eurasia, East Asia, Oceania and America.

Together with his team, he analyzed 377 noncoding but highly variable DNA sequences of human genome. Statistically, he could actually identify five genetic groups with different geographic origins, although there is only five percent genetic variability between populations. In contrast, 95 percent of all genetic differences occur between people of the same population.11

This means that people within an ethnic group differ genetically among themselves more than populations do. Hence, the word “race” in the German language can at best only be used with reference to domestic animals; never, however, with reference to people!

Nevertheless, skin color, eye shape and other physical characteristics are still repeatedly used to emphasize supposed differences between individuals, as happened in Down’s time.

9 Down, J. L. H. (1866): Observations on an Ethnic Classification of Idiots. In: London Hospi-tal Reports 3, 259–262.

10 Ibid., 260–261.11 Rosenberg, N. A. et al. (2002): Genetic Structure of Human Populations. In: Science 298/5602,

2381–2385.



His typology Mongolian type of idiocy12 was the cause for the confusing term “Mongolism”. It was not until 1965 that the WHO accepted a motion by Mongo-lia to stop use of the term “Mongolism” due to its racist connotation.

47 chromosomes rather than 46

French pediatrician Jérôme Lejeune (1926–1994) came to the realization that people diagnosed with trisomy 21 (Down syndrome) have 47 rather than 46 chromosomes back in 1959. The tripling of a chromosome (trisomy) in Down syndrome can be detected in the lab.13

It is now known that the tripled chromosome is chromosome 21 (HSA21). This chromosome contains a group of genes considered to be the cause of Down syndrome (the DSCR – Down syndrome critical region).

Chromosomes – located in the nuclei of all fungi, plants and animals, and often represented by an “X” – are carriers of the genes. Chromosomes only exhibit the famous X shape in the nuclear-division stage (mitosis), when the “parent” cell contributes the same number of chromosomes to the two “daughter” nuclei.

12 Down (1866), 261.13 Lejeune, J., Gautier, M. & Turpin, R. (1959): Study of somatic chromosomes from 9 mongol-

oid children. In: Comptes Rendus HIbidomadaires des Séances de l’Académie des Sciences 248, 1721–1722.


Mutations 19

This duplication proceeds through various stages.In more than 90 percent of cases, the excess chromosome is maternal. The

probability that errors are introduced during meiosis grows with increasing maternal age. Irregularities (genome mutations) during cell division can increase or decrease the number of individual chromosomes.

Free trisomy 21 results from all nuclei containing chromosome 21 three times. More than 90 percent of people diagnosed with Down syndrome are thus affected.

Less common are: Ȥ mosaicism is when the triplicate chromosome 21 exists in only some of the

body’s cells; Ȥ translocation is when one of the two chromosome 21 attaches to another

chromosome; and Ȥ partial trisomy 21 is when gene sequences of one of the two chromosome 21

are elongated.

Mutations

We have all inherited genes from our parents and they, in turn, from their par-ents. We all therefore carry a record of our history within us. The information is passed on from one generation to the next almost verbatim.

If one were to build a chain out of the genomes in all cells of the human body and pull it taut, it would stretch to a length of 12 billion kilometers. In comparison, the distance between Earth and Neptune is 4.5 billion kilometers.

However, in the course of the millions of duplications taking place each sec-ond, mistakes happen, which, if not corrected by the organism, will be embed-ded in the genes. The genome mutates and the mutation can be inherited by the next generation.

Of the 284 genes on chromosome 21 (59 of which are meaningless),14 more than 10 are known to cause monogenic diseases such as ALS (amyotrophic lat-eral sclerosis), epilepsy and leukemia.

Some mutations have health implications, giving rise to so-called genetic predispositions, others don’t. A predisposition determines, e. g., whether a chain smoker would die earlier of lung cancer or not. In such cases, enzymes play a crucial role because, among other things, they break down toxins.

14 Hattori, M. et al. (2000): The DNA sequence of human chromosome 21. In: Nature 405/6784, 311–319.



A mutation is thus a minute copying error that insinuates itself into our cells right when genetic information in the DNA is being copied. But without this error-prone mechanism, it would not be possible to pass on genetic informa-tion from one cell to another.

A genome mutation becomes evident in an increased or decreased number of chromosomes. The former is the case with free trisomy 21. Chromosome muta-tions, in contrast, manifest themselves in changes in the chromosome structure. This applies, e. g., to the translocation form of trisomy 21.

Gene mutation changes are not visible under a light microscope. Such muta-tions can be both beneficial and detrimental to an organism. The latter case is referred to as a genetic defect.

Irregularities in cell division enable evolutionary development.15 Without this variability in our genes, our evolutionary ancestors would have most cer-tainly not even reached the stage of development of flatworms.

Carina Kühne (a young woman with trisomy 21) puts this in a nutshell in her article This is called evolution: “Some mistakes can be corrected, some can be fatal and some develop into something new.”16

Incidentally, it took Darwin thousands of pages to say that!17 What I repeat-edly learn from people with Down syndrome is to say as much as possible in as few words as possible.

Eugenics, compulsory sterilization and euthanasia

“I have Down syndrome. I got married and my daughter Urska, from my third pregnancy, was born healthy and pretty. I am proud of my husband and daugh-ter,”18 declared the Slovenian Mojca Renko (*1963) at The 6th World Congress on Down Syndrome in Madrid in 1997.

About half the ova of a woman with free trisomy 21 contain an extra chromo-some 21. Fertilization by a man with 46 chromosomes would have an imputed probability – around 50 % – of resulting in a child with trisomy 21.

15 Carvunis, A. R. et al. (2012): Proto-Genes and de Novo Gene Birth. In: Nature 487.7407, 370–374.

16 Kühne, C. (2009): Das nennt man Evolution. In: Ohrenkuss … darein, daraus 23 – Paradies.17 Darwin, C. (2006): Gesammelte Werke. Frankfurt/M.18 Renko, M. & Brezigar, A. M. (1998): Die Geschichte meines Lebens. In: Leben mit Down-

Syndrom 27, 8–9.


Eugenics, compulsory sterilization and euthanasia 21

In the case of the latter, however, there is a high probability (80 in 100 cases) of miscarriage.19 The probability that men with trisomy 21 father a child also with trisomy 21 is even lower.20

Ever since the time of British scientist Francis Galton (1822–1911), a cousin of Darwin, racial ideologists have been dreaming of the possibility of “improve-ment of the race” by increasing the productivity of the best genetic material and suppressing that of the worst.21

Galton coined the term “eugenics” (from the Greek εὐγενής: eu- “good” and genos “birth”). Even before the Weimar Republic, German nationalist propa-gandists eagerly seized upon eugenics to advocate their pseudoscientific breed-ing ideas.

This development reached its sad climax with the seemingly innocu-ous-sounding word “euthanasia” (from the Greek εὐθανασία: eu- “good” and thánatos “death”). Nazism’s “racial hygiene” was conceived from this term and led to the murder of children in hospitals on “special children’s wards”, psychi-atric patients and people in death camps – people who were deemed to have a

“worthless life” due to some impairment. Besides the murder of concentration camp inmates and people deemed to have a “worthless life”, compulsory steri-lization is a characteristic “racial hygiene” measure.

“He killed all the people!” says 67-year-old Gisela Großer of Hitler. She is one of the few survivors of Nazi Germany with trisomy 21. She was born in 1942 in Riedlingen, Upper Swabia.22 How Gisela Großer escaped the systematic craze for destruction of the Third Reich is anybody’s guess. Her brother believes that the doctor at the Riedlingen hospital must have protected her.23

In the time of Langdon Down, the life expectancy of people with trisomy 21 was approximately ten years. Today, it is estimated at approximately 60 years. The oldest participant in our study was 73 years old and enjoyed good health.

19 Selikowitz, M. (1992): Down-Syndrom. Krankheitsbild – Ursache – Behandlung. Heidelberg, 155.

20 Sheridan, R. et al. (1989): Fertility in a male with trisomy 21. In: Journal of Medical Genetics 26/5, 294–298.

21 Galton, F. (1909): Essays in Eugenics. London, 24.22 3sat (2015): Besonders normal. Überlebt – den Nationalsozialisten entkommen. Broadcasted

08. 05. 2015 at 11.30.23 Keck, C. (2015): Die Frau, die es nicht geben dürfte. In: Badische Zeitung from 17. 02. 2010.

www.badische-zeitung.de/panorama/die-frau-die-es-nicht-geben-duerfte--27099995.html, accessed 22. 07. 2015.


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