Mitigation of Facial Features in Downs Undergoing Drug Therapy: 23 Years Later

Renato Cocchi M.D., Ph.D. (Sociology)
First published October 15, 2001 on the Internet.
Copyright by Renato Cocchi, © 2001.

Reprinted with the permission of Renato Cocchi
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Abstract

Although regularly reported by filmed or videotaped documentation at least during five International congresses (Dublin, 1982 (Two cases), Wien, 1983 (Ten cases), New Delhi, 1985 (Seven cases), Barcelona, 1985 (30 cases) and Paris, 1986 (35 cases)), the mitigation of facial features in Down children following antistress drug therapies, did not have any audience or produced very ill-informed and derogating attacks to the author.
For that he did not come back to this result and he preferred to investigate other symptoms and their improvements. Since this result regularly comes out, finally he decided to recall it on his own Internet Web site. The so-called "typical Down face" is suggested to be a Cushing-like face due to an excess activity of cortisol on cortico-steroid sensitized receptors.
Key words: Down syndrome; facial features; stress; drug therapy; mitigation.

Since the first Down's syndrome child I treated by drug therapy (Cocchi, 1981), at the checkup the mother referred that his son's face had less "typical" facial features of the Trisomy 21. "Six months later, at the check up, the mother told me he was much better, and that his school performance had improved too. Furthermore, she informed me that some said his face had improved." (Cocchi, 1993)
It is to remember that my drug attempt had only the aim of lowering his easiness to upper respiratory tract (URTI) infections, as I had previously obtained in depressed children (Cocchi, 1981). Only after years and several cases, I realized that this therapy was an antistress therapy. The lowering of URTI easiness was only a following of it, because stress can also reduce cell-mediated immunity.
Since I was unable to quantify this result on face features, I preferred to present it to International Congresses as filmed or videotaped documentation. So, I did it in Dublin, 1982 (Two cases), Wien, 1983 (Ten cases), New Delhi, 1985 (Seven cases), Barcelona, 1985 (30 cases) and Paris, 1986 (35 cases). I always got a poor if not zero audience.

The followings are the Barcelona and Paris abstracts.

Mitigation of facial features in Down children by pharmacotherapy can facilitate social integration (Cocchi, 1985).
The face in Down's syndrome Ss is an immediately recognizable symptom of this chromosomal anomaly that leads to a widely diffused social stigma both for the Ss themselves and their parents. To minimize the negative impact of this social behaviour, parents and Down Ss often adopt avoiding strategies, being mainly the reduction of social relationships but cosmetic surgical interventions too.
Thirty Down children aged 1-10 yrs at first consultation and treated by an individually adjusted pharmacotherapy, besides improvements in cognitive, motor and social skills, since six months of drugs taking showed an evident mitigation of the facial features "so typical" of these Ss.
Parts of the first and last filmed follow-ups are presented to document this change.

Down children treated by pharmacotherapy (Cocchi, 1986).
Videotapes made before and during treatment will be shown to illustrate the evolution of Down children treated by an individually adjusted drug treatment mainly acting on GABA and related neurochemical circuits.

Mitigation of facial features typical of Down's syndrome in 35 Down children after six months of drugs, besides improvements of cognitive, motor and social skills.

Effects of 10-24 months of drug treatment on 7 Down children (three girls and four boys) diagnosed as Pervasive Developmental Disorder according to DSM-III criteria.

In 1985 I was the target of a very ill-informed (in general) and derogating (against to me) press attack from the Scientific Committee of the Unidown (Union of Italian Down Associations). I could answer to it two years later only after I had claimed the Law on Press rights by the help of a solicitor. As I could then observe, the journal issue with my printed replay (Cocchi, 1987) seemed lacking the same circulation of the issue where they attacked me.
This was the reason I did not come back to this result that normally happens after the drug therapy I prescribe in Down children. No problems about my other investigations and you can find part of them already put on Internet in this site.

Mitigation of facial features in Down: Some explanations and independent confirmations.

I hope nobody should imagine that I could cook the visual documentation. First because it was quite impossible to rig filmed documents, moreover taken by parents, fully aware of this facial change. Second, because morphing programs for computers in 1983-1986 were not available.
I think that this non-acceptance I got was simply due to a theoretical mistake. People and physicians too had (and most always have) the belief that any symptom in Down's syndrome has a direct link to the chromosomal anomaly, if not otherwise explainable. According to that, the so-called typical "Mongoloid" face directly depends on the Trisomy 21.

To defy this belief we have at least three arguments:

This feature it is not spread in the same way in all Down subjects. In other terms: Down children with the same type of chromosomal anomaly, namely standard Trisomy 21, does not show this feature at same intensity.
Moreover it can happen that a mosaic Down child, with only part of his cells with a third chromosome 21, shows the "typical" face at greater intensity that a Down child with standard Trisomy 21, with every cell with an extra chromosome 21.
Many parents reported that, before the chromosomal analysis, physicians asserted that their child must be a mosaic form, since his reduced "typical" face. When the child had his chromosomal mapping performed, a standard Trisomy 21 appeared, in spite of his lesser "typical" face.
In literature I found a report where two mentally retarded persons had a diagnosis of Down syndrome only after the chromosomal mapping. (Hobbs, Seabright and Mould, 1977). The "typical" Down face may be not present, and this fact definitely supports my firm belief that this feature does not directly depend on the chromosomal anomaly. There is no exception confirming the rule, in biology.

I can add another point to these three arguments. A drug therapy cannot modify a feature directly linked to a chromosomal anomaly, without modifying this anomaly. In facts, the therapy I prescribe does not have any action on this anomaly, but it acts by modulating stress reactions.
I think that the so-called "typical Down face" is only a Cushing-like face due to an excess action of cortisol, as a stress reaction, on sensitized receptors. Which kind of stress in Down syndrome, at least in my opinion? I wrote it in a theoretical paper (Cocchi, 1993).
"In chromosomal anomalies, metabolisms which normally depend on two genes, one per chromosome, reduce by 50% in monosomal forms. Similarly, when there is one extra chromosome, as in trisomies, those metabolisms increase by 50%. Down's syndrome is also known as Trisomy 21.
Its genetical characteristic is to have three chromosome 21's instead of two and therefore for the aforementioned dosage effect, to increase by 50% all the metabolisms whose control genes are found in chromosome 21. In other words, if in a normal individual the same two genes, one for each of the two chromosome 21's, control a particular metabolism 100%, each of them controls a half, which is to say 50%.
If a chromosome 21 increases, as with Down's syndrome, all the genes which depend on chromosome 21 also increase by one. That particular metabolism is no longer controlled by two genes, as in normal individuals, but by three genes, and therefore is increased by 50%.
This is a fact and has been verified for metabolisms activated by the enzymes superoxide-dismutase-1, indolo-phenol-oxidase, phosphorybosil-amino-imidazole synthetase, which all have their control genes in chromosome 21. I had finally found the origin of the Down individual's stress. The 50% increasing of a whole series of metabolisms produces a homeostatic alteration which produces an endogenous biological stress. A stress that starts from within the organism itself.
This stress begins at conception in the free Trisomy 21 and translocation forms, or some hours later in the mosaic forms."
This view can easily justify the different phenotypical aspects of the symptom "typical Down face," because stress reactions also depend on an individual biological ability to cope with stress, an ability built by hereditary and acquired factors. Of course they also depend on the stressor's intensity or on stressors' sum.

Two signals lead to confirm that:

Parents have often referred that their Down child has marked facial features when tired or feverish, or under antibiotic therapy, three conditions of biological stress.
The so-called "typical Down face" is not peculiar of the Down syndrome. I have a filmed documentation of a similar face, taken in an infant at one month of life, without any genetic or chromosomal anomaly but born after a very long and complicated delivery.

To these I can add a general deduction from antistress drug therapy premises: They must work in other illnesses of this type. I did some new attempts in drug therapies in genetic or chromosomal anomalies. In that same site, you can already find the reports on a case of Tuberous Sclerosis, a case of Cri-du-chat syndrome and a case of Smith-Magenis syndrome. I am preparing similar reports on a case of Aicardi-Goutièrez syndrome, and a case of neur.-axonal dystrophy.
In these cases too, like in Downs, drug therapies do not erase the genetic or chromosomal anomalies. It can only improve some phenotypical aspects till now directly but wrongly attributed to the anomaly itself, instead of to reactions to an internal metabolic stress. Following these antistress therapies, a better quality of life gets out for the child himself and his parents and this, perhaps, is not a negligible thing.

Conclusion

Although regularly reported by filmed or videotaped documentation at least during five International congresses, the mitigation of facial features in Down children following antistress drug therapies did not have any audience or produced very ill informed and derogating attacks to my person.
For that I did not come back to this result and I preferred to investigate other symptoms and their improvements.
Since this result regularly comes out, I decided to recall it on my Internet Web site.

References

Cocchi R. Susceptibility to infective respiratory diseases in depressed children. Epidemiological survey of 126 subjects, clinical-therapeutic report of 61 cases. Acta Psychiat. Belg. 1981, 81: 350-365.

Cocchi R. 15 months follow-ups of two Down's syndrome children treated by pharmacotherapy. A 30' VHS videotape presented during the 11^th Congress of IACAPAP, Dublin, 1982.

Cocchi R. 12-27 months follow-ups of 10 Down 's syndrome children treated by pharmacotherapy. A 70' VHS videotape presented during the 10^th World Congress of Psychiatry, Wien, 1983.

Cocchi R. Facial features mitigation in Down children treated by pharmacotherapy. A 60' VHS videotape presented at the 7^th World Congress of IASSID, New Delhi, March 24-28, 1985.

Cocchi R. Mitigation of facial features in Down children by pharmacotherapy can facilitate social integration. A 45' Super8 film. Presented during the 5^th Mediterranean Congress of Social Psychiatry, Barcelona, 1985. In: Abstracts, Dpto. de Psiquiatria y Psicologia Médica, Universidad de Barcelona, 1985, pag. 29.

Cocchi R. Down children treated by pharmacotherapy. A videotape presented during the 11^th International Congress of IACAPAP, Paris (France) 1986. In: Abstracts, Expansion Scientifique Française, 1986, no 10.6.1, pag. 222

Cocchi R. (Letter of complaint). Sindrome di Down 1987, 4 / no.7: 26.

Cocchi R. Drug therapy in Down's syndrome: A theoretical context. It. J. Intellect. Impair. 1993, 6: 143-154.

Hobbs A, Seabright M., Mould S. Two cases of Trisomy 21 and one XXY with atypical clinical features. Hum. Genet. 1977, 38: 239-244.

Unidown Scientific Committee (Giorgio Albertini, neurologo; Massimo Badas, pedagogista; Paolo Berruti, neurologo; Franco Chiappe, neonatologo, Franca Dagna Bricarelli, genetista; Bruno Dallapiccola, genetista; Ennio Del Giudice, pediatra; Franca Felicioli, psicopedagogista; Angiolina Garau, pediatra genetista; Maria Luisa Giovannucci Uzielli, pediatra genetista; Liliana Minoja Zani, neuropsichiatra infantile; Aldo Moretti, psicopedagogista; Alberto Rasore Quartino, pediatra genetista; Vincenzo Reale, pediatra; Valerio Ventruto, genetista): Perche' no alle terapie farmacologiche nella sindrome di Down. Sindrome di Down 1985, 2 / no. 4, 1-3.