THERAPY WITH ANTISTRESS DRUGS ON
PHENOTYPIC SYMPTOMS IN A CHILD WITH PARTICULAR CHROMOSOMAL ANOMALIES (
UNBALANCED TRANSLOCATION 16-17 AND PARTIAL TRISOMY 17). (Updated April 2005)
Renato COCCHI, a neurologist and a medical
psychologist.
Summary.
A child two years and 10 months old,
affected by a chromosomal anomaly 16-17 defined as "unbalanced
translocation involving a chromosome 16 with retention of the specific telomere
16q and partial trisomy of the long arms of a chromosome 17 to specific
breaking points," came to consultation for a possible drug therapy. He
showed mental retardation (IQ = 56, at 28 months of age), a delay of the
language and motor clumsiness mainly in his fine motility. There were no
dysmorphic marks in his face and body, but a growth delay. The stress symptoms
he showed permitted to set up an antistress drug therapy, acting favourably on
the language, the motility, attention, the sleep and diet.
Key words: Chromosome 16; chromosome 17;
chromosomal anomalies; growth; mental retardation; motor delay; language delay;
attention; stress; drug therapy; glutamine; pyridoxine; oxazepam;
carbamazepine.
Drug modulation of stress reactions..
Genetic and chromosomal anomalies
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The parents came to consultation for a
possible drug therapy in their child who had a particular diagnosis of an
anomaly of chromosomes 16-17. According to what written in the index page of my
site <wwwstress-cocchi.net> I informed them that "the modulation of
stress responses can give some relief to every illness, (for theoretical bases,
see in the same site: "Speculation4.htm" and
"Speculation5.htm") even to genetic-chromosomal diseases like
"Down' s syndrome" and "Other genetic or chromosomal anomalies,"
always in the same site).
I added that I never treated a person with
such a chromosomal anomaly. The antistress drug therapy proposed would only
modify some secondary symptoms (called also, the phenotypic ones), leaving
unchanged those directly contingent upon the chromosomal anomaly as the same.
As for me, of that child, I did not know
which symptoms should have a change, or which did not it, because he would be
the first case I should face.
I would have set up an individually tailored
drug therapy according to the symptoms that I could stand out, symptoms related
to working of brain and peripheral neurotransmitters, on which I could act.
Four months later since the starting of the
therapy I thought that a report of this experience would have been surely
interesting.
The case history.
A male child, with a chromosomal diagnosis
so defined:
46,XY.ish der(16)
t(16,17)(q24.3;q25)(wcp16+,wcp17+,Tel16q+,Tel17q+).
It has been described as "unbalanced
translocation involving a chromosome 16 with retention of the specific telomere
16q and partial trisomy of the long arms of a chromosome 17 at the
above-mentioned breaking points."
The report of the investigations made in a
specialized Lombard centre when he was 28 months, and sent to the family
physician had a structure like that.
Male, the third son, he was born from a
pregnancy with a normal course, with enlarged brain ventricles, already seen by
the ultrasound checkups during the foetal age. The delivery occurred in 38th
week, with cesarean section because of the precocious breakup of the membranes
and alteration of the foetal heartbeat. His birthweight was 3680g, his length
51cm, his skull circumference 35cm, Apgar scores = 8 (1') and 9 (5').
At birth, edemas in the inferior limbs were
observed, then they regressed spontaneously before two years.
The following US scans confirmed the
situation of the enlarged brain ventricles and possible outcomes of a
subependimal haemorrhage under the floor of the left ventricle.
His blood cells' examination showed a
"marked microcytosis, hypocromy and poikilocytosis of the red cells."
The EEG has an "irritating"
component prevailing in the left half-brain, as seen in the first phases of the
sleep;
The NMR confirmed the not hydrocephalic
ventricle enlargement, at low limits of the norm;
Visual evoked potentials are within the
norm.
Cognitive level at 28 months of age,
according to the Griffiths' scale:
Locomotor scale = 68;
Social behaviour scale = 61;
Language hearing scale = 45;
Eye-hand coordination scale = 53;
Performance scale 52;
Practical reasoning scale (not applied).
Mental age is 16 months with IQ = 56.
At that age, his neurologic examination was
in the norm; walking was on widened base, and flat valgus of the feet.
For his psychomotor delay, he was early given
physiotherapy, and later, psychomotor therapy, with several results.
September 2004, the first consultation, when
he was 34 months. The problems the parents told were drooling, delay of the
language (he says fewer words, but they not correct in the pronunciation),
mental retardation and motor clumsiness mainly in the fine motility. Soon after
his birth he showed a light muscular hypertony, which has normalized by itself.
He reached walking at 24 months, with right side lateralisation for his hand, and
he potentially has hyperkinesis.
During the first year of life he used to eat
a few, used to sleep much, had atonic constipated, he did not have any easiness
to upper respiratory tract infections, he always cried a few, and was usually
pale.
According to his mother, "in certain
moments he seems in an own particular world." There are not evident
autistic symptoms. He does not show rocking, aggressiveness,
self-aggressiveness, gaze aversion, sameness, or other motor stereotypies. He
is quite affectionate, mainly with his mother.
Small for age, he has a normal facies, and
no white spots on his body.
Stress symptoms: Tolerance for the light and
the noise, less for the confusion, even if he does not give it much to see. He
has not cutaneous paresthesias. A light convergent squint is present, but not
always visible.
His mastication is normal, and no bruxism
occurs. He appreciates salty foods and poorly sweet things. Normal also is his
food preference for milk and dairy. He likes coke and coffee. In the morning he
doesn't like to have breakfast at once. Usually he has atonic constipation, he
is indifferent either to warm and cool, doesn't take easily illnesses from
cooling.
Oversweating does not happen, but pallor
days, with eye sockets. He used sleeping in the parents' bed and is awaking
often. At the mornings, sometimes he has his penis in erection.
He recognizes himself in the mirror, also
his sister, and her friends. He pays attention to anyone who enters throughout
the gate, and he greets them. No always he understands the simple orders.
Test therapy (daily doses, by the oral via):
Glutamine 125mg; Pyridoxine 75mg; Oxazepam 2.5mg.
End October 2004, the first checkup after 42
days of drug therapy. His parents say that he goes better. The language
improved in the lexicon, pronunciation, but he does not use it more and he did
not reach the two-words sentence. He continuously sings softly. Perhaps he
understands more the simple orders. The drooling did not change.
He pays more attention, a fact confirmed
even by his psychomotor therapist. Currently he follows more with his looking.
He understands more and is more attentive. The days with the eye sockets
reduced. He sleeps still with the parents, and he is awaking fewer times during
the night. The time to play increased. In the morning, he seems early hunger.
His bowel function works as little more regulated. He bears better the
confusion. Now, he has become little opposing. The squint is always less
evident. The milk and the dairy have much greediness.
Therapeutic variation (daily doses, by the
oral via): Glutamine 187.50mg; Oxazepam 4mg; Pyridoxine 75mg; Carbamazepine
50mg.
January 2005, the second checkup after four
months of drug therapy. He is doing better. Now, he is more serene and calm,
with more attention to what happens around it. His vocabulary increased, but
his comprehension not so much. He started to ask some questions, and he uses
some two-words sentences. His singing softly increased. Her attention when
another one is speaking increased too.
His health did well, as usual. There are
always balance problems. He is more agile when he is standing, has more
voluntary initiatives. Now, he climbs the staircases by feet, holding to the
handrail. In going downstairs, he stops. Perhaps he did not get the stereoscopic
vision of the depth, because he stops even when he sees a strip on the ground,
in front of him. It seems that he does not understands if he is in level or
there is a stair.
Her face is rosy. Now, he goes ahead with
the tricycle, while previously he pushed it only backwards. hyperkinesis and
motor passivity alternate. Many persons did see his improvements. Bears more
the confusion. He still sleeps in the parents' bed: When he put in its little
bed, he wakes up, but he has less need to sleep in the afternoon. Her
constipation decreased. He has more availability in accepting new foods.
Drooling went down. He feels more the heat, when he is approaching a warm
object.
No drug therapy variation.
Third ten days of April 2005, the third
checkup after seven months of drug therapy. The boy is doing better and he is
more serene and calm.
Language: He uses new words, and speaks more, but not always
with appropriate words. By now, he asks some things with an only word and
rarely he does a sentence of two words. It is the phase of the infant
negativism. The comprehension increased. It seems he has memory losses for the
oral sequences, but he has started to act some simple order.
Motility: The motility improved, is less clumsy. Now he can go
down the staircases better, runs, a new ability, does not jump. His balance has
fewer problems, and he reduced the base polygon ( the room of his feet is now
narrower).
The hands' ability improved. He closes
bottles with their corks, skims through the magazines, does well with the
spoon, succeeds to drink, by taking the glass. If in the ground there is a line
of darken contrast on clear, he inclines to stop. He rides the tricycle fewer
times, by pushing it forwards with his feet. Now, he turns on and off electric
lamps uses the TV controller.
Physical health: It did well. If he is badly, he is more pale. Now he
sleeps in his bed, bu he wants his mother in his room. In the afternoon he does
not need sleeping. He is rarely constipated. His sphincters' control is
lacking. There is even drooling, but not every day. His height grew. The
convergent squint reduced more.
Feeding: In the morning he doesn't ask at once to eat. He
shows normal greediness for the milk and dairy products, and he prefers the
salty foods, in particular the pasta. After he has ended to eat, he doesn't
want to have his dish closer.
Other: Now, he bears better the confusion, but badly the loudness of the
television audio, which follow inadequate use of the TV control. He is attending
the nursery school, where the staff found him as improved. His attention
prolonged its span. In some moment he seems as absent, however what happens
about, does not escape him. For his mother, sometimes his eyes are staring at
nothing and does not listen anything. He is ripping the paper, and he is not
more affectionate than usual.
Therapeutic variation (daily doses, by the
oral via): Glutamine 250mg; Pyridoxine 75mg; Carbamazepine 100mg; Bromazepam
0.5mg.
Second ten days of September 2005, the
fourth checkup after a year of drug therapy. According to his parents, he is
even improved.
Language: He speaks more, and does correctly the nomination of
some things. His comprehension is modest, even if increased. Now, he acts
several simple orders. He uses some sentences of two words. The rhotacism
occurs.
Motility: Improved, it is less awkward, and he runs in more
harmonious way. He climbs the stairs with one step for time, by holding the
handrail. Now he goes down even by himself, in the same way. He is not able to
jump. Now he is less insistent in turning on and off the lights, and in using
of the TV remote control. The illusion of depth disturbs him lesser. The
tricycle riding is not improved. He can stay more calm because he is less
hyperkinetic. Even in his sleep he is moving less.
Physical health: As for his health, he did well. Now he is taller
with an increased body's weight. The need of urination is longer controlled.
The squint reduced, and appears evidently only when he is as tired. Drooling is
still lesser. As for sleeping, he sleeps 3-4 hours in his room, then he wakes
and goes to look for his parents and he enters the great bed. He has some
constipation, of spastic type.
Feeding: At mornings he doesn't want to eat at once. His diet
increased, with the ham and the meat roast.
Other: He attends the nursery school. At the reentry after the summer
holidays, the teachers found him as improved. Now, he starts to play in more
constructive way. The tolerance to confusion is unchanged.
Therapeutic variation (daily doses, by the
oral via): Glutamine 125mg; S-adenosil-l-methionine 100mg; Pyridoxine 75mg;
Carbamazepine 100mg; Bromazepam 0.575mg.
First ten days of March 2006, the fifth
checkup, after 18 months of drug therapy. According to the parents, he did some
progress.
Language: The comprehension improved and he increased the
simple orders acted. He doesn't still understand double orders. Even the
rehabilitation therapist and the speech therapist notice of more difficulties
in comprehension. However, he pays attention to what people told around and he
takes part in tone by repeating one or two words of it. Now, he is using some
sentences of three words. The TV advertising slogans have fewer repetitions by
him. He has Still physiological rhotacism.
Motor skills: In some moments he shows even some hyperactivity
without any purpose, however he succeeds to sitting before the television. Here
he has more attention and he likes quiz shows. He did not leave the habit of
opening and closing doors, if turning on and off the lights but He does it
lesser. Now, he knows well the house. The big motility improved as well as the
fine one. The thumb-finger prehension is sure. His squint appears now only when
he if much tired.
Physical health: Altogether it is running very well. During last six
months he had only one feverish episode of modest intensity and short length.
Currently he has atonic constipation. The colour of his cheeks is more rosy. He
sleeps all the night, from the nine in the evening, till 7.15 in the mornings,
when his mother wakes him up. The nighttime bedwetting is irregular. He sleeps
even half an hour in the afternoon. His height and ihis weight grew, but only a
little, so he is not fat. His GH is still low rated. The parents observed his
penis esection in the morning, with some frequency. He inclines to have still
cool hands and feet.
Feeding: He always preferrs tasty foods, but no he eats even
sweet things, a cake with jam, or milk chocolate. He does not show any
particular greeding for milk and dairy products. At the mornings, and sometimes
even at the evening he doesn't want to eat, and his mother needs a few
insistence. His lunch ration instead, in the nursery school, is not enough for
his needs, and he steals food from the plates of the companions.
Emotivity: He is a serene child, much affectionate, but still
mostly to his mother.
Other: The relationship with the object started and he plays by himself. He
began also to look himself in the mirror, and he recognizes himself. At the
nursery school he acts the best when he is in a small group, two or three
mates, over the adult. When they are more, the confusion stops it. However, he
is listening more.
Therapeutic variation (daily doses, by the
oral via): Amantadine 50mg.
Discussion.
After these twelve months of drug therapy I
can do some considerations.
First, there is the confirmation that even
this chromosomopathy has phenotypical symptoms that can modify by a drug
modulation of stress reactions (sleep, drooling, hyperkinesis, etc.). The
language is improving, and the child is much interested in improving it. It
seems however that there is an inversion in comparison with the usual better
comprehension than verbal production. The hyponeophagia (or, difficulty or
refusal to taste new foods) is reducing.
Another important symptom is this possible
difficulty to recognize the depth. It may not be a symptom directly related the
chromosomopathy, since it is progressively disappearing.
The anomalies of the chromosome 16 appear
with many variations with symptoms even different (see: Genes, Locations
Genetic Disorders and Chromosome 16 on
<gdb.wehi.edu.au/gdbreports/Chr.16.omim.html>)
In this child there is not anything of
dismorphic, particularly evident, or found after a more accurate observation.
Mental retardation is not a specific symptom. Moreover, we do not know the
weigh of the subependimal haemorrhage, whose outcomes in the left half-brain
were detected by the US scans.
The language appears as improving, even if
with greater difficulty for the receptive aspect.
Somehow, but it could be a hazardous
suggestion, it seems that the complexity of the chromosomal anomaly found some
internal compensation, from which this aspect of difficult evidence at first
sight.
The presence of some stress symptoms, as the
consequence either of the chromosomopathy and of the previous subependimal
haemorrhage, from which this "irritating" component to the left, in
the EEG, and perhaps even to the delivery trouble, permitteded to set up an
antistress drug therapy that is giving some results.
Only the following of the set up drug
therapy, and its variations tailored to the responses of the child, will allow
to clarify better this psychopathologic situation.
Posted on internet i 2 March 2005. Copyright by Renato Cocchi, 2005.
Author's address: Dr Renato COCCHI, via Rabbeno, 3
42100 Reggio Emilia
renatococchi@libero.it
Drug modulation of stress reactions..
Genetic and chromosomal anomalies
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