DRUG THERAPY IN A GIRL AGED TEN
WITH SMITH-MAGENIS SYNDROME (updated on September 2007)
By Renato COCCHI, a neurologist and a medical psychologist
Abstract.
A girl aged 10 with microdeletion of the chromosome 17 (p11.1-p11p2) and
singular features underwent drug therapy after the failure of psychological
approaches lasted years. The chromosomal disorder with unusual facial features,
syndactily, mental retardation, behaviour abnormalities and speech problems
drove to the diagnosis of Smith-Magenis syndrome. No other relevant body
anomalies were found except wider ventricles, wider subarachnoidal spaces, but
normal brain structure, revealed by ultrasound scan.
Besides academic difficulties and disturbed social behaviour, other
evident symptoms were present. They were strong opposition, a lower threshold
to frustration with irritability, aggression or self-injuring behaviour, use of
derogating and dirty words, and negative thinking.
The drug therapy lasting 86 months showed many improvements already seen
by the girl's teachers and psychotherapists.
Key words: Stress; Smith-Magenis syndrome; girl; drug therapy,
results..
Genetic and chromosomal anomalies
Mental retardation
Drug therapy
A new case of possible reverse brain dominance came to my observation.
It referred to a female child aged ten brought to visit by her mother for very
troubled behaviour.What immediately focused my attention was a mother's initial
comment. When she was telling me the reasons for having asked my help, she said
"My daughter has the habit of always doing the opposite."
I referred this case in another place as for its special feature of the
opposite half-brain dominance for some neuropsychological functions (see:
www.reversebrain.org /case4). As I promised there, now I shall do the report of
drug therapy, even with some delay.
The case.
17 July 2000 - Female, aged 10, with a chromosomal anomaly in the short
arm of the chromosome 17(p11.1p11.2), she ended the forth year of elementary
school. The chief cause of this consultation is her strong opposition temper
that makes increasing difficulties both home and in school.
She badly stands even a little frustration to which reacts with
aggression or auto-aggression, by slapping herself or biting her hands. The
mother says "My daughter has the habit of always doing the opposite."
According to the school psychologist, the parents asked for a drug intervention
since all other approaches did not get any result.
First-born, she has a healthy younger sister. One brother of her mother
is suffering from Down's syndrome. Her parents are healthy and without any
blood-relationship. Her prenatal age ran normally and ultrasound scans did not
reveal anything wrong as for body shaping or fetal growing.
Delivery occurred in the 38th week of pregnancy, with 3150 grams
birth-weight and 9/10 Apgar's scores. In her neonatal time doctors noted
dysmorphic body aspects and pathological blood bilirubin.
Growing checks reported normal height-weight growing, but milestones of
her psychomotor development had evident delay. Recurrent otitis needed frequent
and long-lasting antibiotics therapies.
When she was nine, she had an extensive checkup in a University
Pediatrics Department. There is a report of it with the following remarks.
Her weight is 27 kg (25th percentile), her height 128 cm (10th
percentile) and her skull round 51 cm (25th percentile). She is doing well and
in health condition but she has her face sharpened, with deep-set eyes, bulbous
nasal point, thin upper lip, and slight prominent jaw. Her superficial venous
net appears quite evident. Her hands fingers are shorter than normal children
have, and her feet are the same but with nearly complete skin syndactily
between the second finger and the third one. The tone of her voice is low and
her nature has the strong feature of unmotivated opposition.
The pediatrician did not observe anything else as worthy of a report.
Other examinations showed: Normal ECG, normal EEG, normal fundus oculi,
normal ultrasound scans of her abdomen and kidneys. Brain ultrasound scans
revealed wider ventricles, wider subarachnoidal spaces, but normal brain
structure.
During that checkup the girl had her chromosomal anomaly detected.
Cytological examinations of both parents did not show any sign predisposing to
an anomaly of the chromosome 17p. So a fortuitous personal accident may have
done her microdeletion of the chromosome 17 short arm as an isolated event.
Eventually, according to the collected data, pediatricians diagnosed the
girl as suffering from Smith-Magenis syndrome.
During my first consultation other information was collected. Sweet things
do not attract her but the chocolate. She needs to stimulate the internal
surface of her mouth with her fingers.
There is easiness to upper respiratory tract infections. She is
awakening very early in the morning. Although the girl is clearly hyperkinetic,
her walking is clumsy, she does not easy go downstairs, she does not ride the
bike.
The mother refers about recurrent rocking and masturbation, also about
the repeatedly breaking of her spectacles.
Language understanding is under her age level and mainly centred on
emotional connotations of what she hears. Spoken language runs rather normally
as for grammatical and syntactical rules. Nevertheless it is childish with
large unmotivated choice of aggressive and dirty words, even when the girl is
only telling. She says: "When I become older, I will use [illicit]
drugs."
With her sister she has a very conflicting relationship. She does not
like home pets. Usually, she is going to school with pleasure but she is not
well with her support teacher. Her classmates complain her habit of using
derogating words or even unmotivated physical aggression.
When asked to say the opposite of the colour "red", she nearly
immediately answers "green" which is just the right opposite.
Starting drug therapy (daily doses): Amantadine 100mg; Pyridoxine 150mg;
Diazepam 2mg; Viloxazine 50mg.
16 October 2000. The mother reports the daughter is going better. She
noted some improvements just after 15 days of drug therapy. The girl is more
quiet, less self-abusing (she does never bite her hands, but uses derogating or
dirty words) and sleeps more.
Also her behaviour during the "nature-week" (a kind of summer
camp) was more manageable. As for upper respiratory tract infections, till now
there was no drop in frequency.
Opposite behaviour seems reduced: Sometimes she is rethinking and so
does not answer the usual I don't. Perhaps rocking is coming out in a lesser
degree. Her relationships with little cousins are going better. Her
masturbation decreased. Now she has learned biking.
She needs to stimulate the internal surface of her mouth with her
fingers as she did in past, before drug therapy. She cannot be quiet and she
often reacts by doing the opposite. As a noticeable fact, she did not break her
spectacles anymore. Her bowel function is regularly running. Now she asks the
mother for cuddling.
Drug therapy variation (daily doses): Piracetam 1200mg; Amantadine 150mg
.
05 February 2001 - She is more amenable and cheery. Now she sleeps well
and longer, but during the night has the habit of into her parents bed. When
she goes to bed earlier, her sleeping lasts more. She stands more the pets. Her
masturbation decreased as well as rocking. If frustrated she hardly controls
herself, his anger grows and then becomes self-injuring. Her classmates are
less complaining about her. She is doing better with her support teacher. With
the remaining teachers she has now relationships less conflicting. Her language
now is more moderate with fewer aggressive or dirty words.
During the consultation she tells about a classmate girl, named
deficient and other derogating adjectives, although this one is the classmate
with whom she has better relationships. For the first time she went dining off
without her parents. She took part to a party far from his home, and so she
slept there. During a written task at school she described her Christmas
exactly as the opposite: no gifts, no mountain holiday and so on. With her
sister she has now a better relationship. She did not break her spectacles
anymore.
Drug therapy variation (daily doses): Taurine 500mg.
14 March 2001 - The psychotherapist who is treating the child since
December 1998, wrote a report where describes her current situation.
[The girl] "is very interested in how practically she can do with
other people, in spending time in activities with use of objects like a
typewriter, the paper and scissor, besides drawing and playing with the sand.
In these activities she asks other people to participate or invite them to
verbal interaction by questions and answers, and she showed more interest and
involvement during past months. Organisation and interest in symbolic play are
always lacking. In progression self-injurious behaviour and aggression went
down as well as motor and thinking instability during psychotherapeutic
sessions."
28 May 2001 - The patient is doing better. The mother can easier steers
her, but fewer moments of opposition sometimes came out. By instinct, she had
always answered: I don't, but now she can control herself. Some nights sleep run
worse, and she went around or read. To uttering dirty words decreased too. She
has the habit of touching new things, and remains hyperactive. Frustration
always irritates her.
At school she is better doing. Her masturbation appears only in
particular moments. Appetite is good, with whole diet, she wants natural water
for drink. Her socialisation improved, so her relationships with classmates are
going fairly well. She did never break her spectacles. With her sister she
plays in a better way. Now she does not assume the name of another person,
while in past she said to be Sara, the younger sister.
Current regimen (daily doses): Amantadine 200mg; Pyridoxine 150mg;
Diazepam 2mg; Taurine 500mg; Viloxazine 100mg; Piracetam 1200mg.
03 December 2001 - She is going better. The use of offensive, aggressive
or dirty words decreased. She has difficulties to mediate between normal
answers and opposition answers. Her aggressive behaviour and masturbation went
down. Some moments of rocking use persist. She likes attending the school where
she pays more attention, and tells at home what happened there.
Her classroom behaviour is more suitable, with some problems of
relationship with her teacher of Italian.
She likes computer science. School achievements improved, with lower
notes, but sufficient, in Italian. She goes more with male classmates, but now
she speaks more of the girls too.
Usually, she wakes up about between six and half and a quarter to seven
am. Some nights she even wakes up very earlier and turns into her house. Now,
she has started to eat sweet foods. As for her health, she caught some cold.
She is unable to rest quietly and not to touch everything( breaks the earphones
of the portable recorder ). It appears she needs consume energy with always
alight the television.
There are not initial pubertal signs. She does volleyball and likes it.
She likes the music too. When she is playing guitar, she likes it but she shows
some troubles in hands motility. There is some ambiguity in her hand
lateralization.
She is more interested in which clothes has to wear, and her choice is
well. The relationship with her sister is more fair, and has begun to manifest
interest in the other sex.
At home she helps by doing little housework. Her mother says that she is
afraid of new things.
Last summer, by the sea, is behaved well, except a burst against the
waiter that not brought her the ice cream after short time. The relatives found
her different. When her mother speaks about her, now she does not react
aggressively or with self-injury. When frustrated, now she uses crying.
Current therapy (daily doses): Amantadine 200mg; Glutamine 125mg;
Pyridoxine 150mg; Diazepam 2mg; Taurine 500mg; Amitriptyline 4mg; Piracetam
1200mg.
27 May 2002 - She is going discreetly, but no all times. Anyway she is
much more tolerable. Some nights she does not sleep well. Her masturbation is
rare. The rocking helps her to fall asleep. Some stereotypies of the fingers
are even present. Probably she suffered from the seasonal change of the spring.
At school she had episodes of aggression, but poor self-injuring behaviour, and
no signs of bites on her hand.
She does not use to say digits, but she talks to herself. Aggression to
her sister is now rare, and she projects on her sister her weak abilities, for
example her troubles with multiplication tables. At home she is more adaptable,
but she speaks always blackmailing. The mother says that the way is gone ahead
to blackmail.
She has still opposite behaviour, but fewer than in past. According to
her mother, he resembles her father, he too a kind of The contrary Mary. During
the religion school she spoke of "black Masses" and a day said:
"Introduce this Satan to me."
He is going with her cousin, a boy with Down's syndrome.
At school she has got good notes, without any reduced program. She
doesn't always succeed to stay in the classroom, because doesn't withstand much
time. She does swimming. She succeeds to manipulate the other. For the
psychologist this improvement in little time is an exceptional case and she
could stop psychotherapeutic sessions.
No therapy variations.
27.01.2003 - She improved. In this time, the support teacher failed to
come working, but the girl did not suffer from it, and, however, she succeeds
to stay in the classroom even without her. For doing the homework at home, she
does not accept more the supervision of the mother, because She wants to be
more autonomous. However she is in a hurry, and so she does many errors.
Since half December, she is awakening more times during the night and
she usually wakes up, or goes in the bed of her parents. With fluoxetine
10mg/daily at lunch (in place of the viloxazine, not more marketed in Italy )
she does not show any drowsiness as when she started it at the mornings. It is
not clear as appraises her real engagement towards the school. Probably she
feels it more as an obligation imposed by the parents than a personal
engagement.
She is always a little Contrary Mary: She needs to say always Not, then
she adjusts herself. She bites her nails, and often she does bleed the fingers
of the hands.
Her health improved: less colds and less lasting. Now, she is eating
more, and in the mornings she always has a whole breakfast. When frustrated,
she used closing with strength her ears, and that nearly seems even an even
self-aggressive action. With the little sister she has brotherly quarrels as
normal. She verges on abusing, as she used in past, but her sister started to
revolt.
Her patience is short time. When she wants something, she wants at once.
With her father she is more yielding. On suggestion of the father, for a
certain period she stopped to take the drugs. The psychologist, having known
it, was very angry, and the drugs were resumed.
Lately there were some masturbation episodes, a habit she missed for a
long time. She read well, and reads much even for pleasure. In writing, she
makes many errors. She learned the multiplication tables.
She does still psychological therapy. Always less rocking, but lately
she showed again some fingers stereotypies. Some time intentionally talks to
herself. Now, she goes back home by herself from the school. When by herself,
perhaps she pays more attention to dangers. Last May she missed herself, and
she was very frightened. Her voice is less hoarse. From nearly a year she has
always the same pair of spectacles.
Therapeutic variation: Melatonine 3mg in the evening.
08 September 2003.
Behaviour: She used tiptoing. Always
hyperkinetic, even if she succeeds to stay sitting longer during the meals. If
angry, she seems that she is playing. Now the relationship with the younger
sister capsized, with this last wanting to do the younger sister. However,
between the two sisters there is understanding.
At school she had a moment of disbandment about the half the year, when
the support teacher refused to consent to an imposition of her. At the end, she
fitted on the situation, and progress, mainly in her behaviour, became clear.
The relationship with the classmates improved, and they call her. She considers
much their judgment. Into the classroom she is lesser derogating, even if
sometimes she does it. Home only she keeps disturbing behaviour.
She is always much impulsive. She is getting more orderly habits from
her younger sister. On holiday, she did not treat badly the waiters. If she
wants something, she insists till exhausting the others. She does some more
help at home. When choosing new wears, she inclines more to get female ones.
She has always a little hep to the other sex, but not in worrisome way.
Sleep: In the evening she tires and she asks going to
bed about the 8.30-9 pm ( she is aware of it). At night she used sleeping, once
waking up to go to the bath, then she changes bed, going with her sister, with
the parents, or on the couch. At night she sleeps, lifts to go to the bath,
then changes bed, from the sister from the parents, or on the couch.
By the sea slept well, and she went to bed later with later awakening
hour.
Feeding: Currently she inclines to refuse fruit and vegetable,
which in pass has always eaten. She is very greedy of chocolate.
General health: As for her health. She did well. It
is to signal only a modest and brief cold following the aquatic park
attendance. This summer (much warm and sultry) she did not suffer from the
heat. Menses did not appear. She is managing the drug therapy by herself,
without errors, and she likes to take it. The pediatrician, who has seen her
last June, found her in a well condition. No one day of school lost.
Emotivity: Not more always alight television,
which was replaced by an other sound producer, the stereo device. When she is
much frustrated, she beats in her ears, but she does not bit more her fingers,
from which they are missing the corns of the bites. She seems that somehow or
other is asking excessive things, only to contest them, when satisfied. When
she was four, as the mother says, she wanted always the other thing, for which
the parents did not know how manage her [continuous changing of half-brain
dominance?].
She stayed with the grandmother for a week and his aunt, after a foolish
scene, has beaten her. Now the affective relationship with her aunt is optimal.
She is speaking more with the physician during the current consultation.
Therapy variation: Taurine. stopped To the regimen was added glycine
75mg and increased amitriptyline to 4mg.
07.06.2004. Still improved.
Behaviour: Less hyperkinetic. With extraneous
people her behaviour is well, but at home she has still groundless opposition.
When the mother gives her orders to act in a next future, often she does not do
them. According to the mother or she has memory problems, or does it on
purpose. At school she is less spiteful. She studies, her behaviour is well,
does not say dirty words, not annoys the classmates. This time she decided to
talk by herself with the physician, and she answered to the questions made to
her. She does not succeed in making spontaneous speaking. She inclines a few to
be verbally aggressive, but much lesser than in past. This time she did not
need to close her ears or to bite her hands, things that now she does more
rarely.
Language: Good, with scarce choice of opposite
contents. Perhaps she shows an indication of tonic stuttering.
School learning: She has to do the examination of the
junior high school license, of which she is not worried. The next year she
wants to attend a professional school for touring. Good her learning both in
mathematics and in Italian. In English she does enough, but she shoots at the
gymnastics.
Feeding: More regulated, but she searches always the
chocolate.
Sleep: She sleeps well, but about the mornings she has
the habit of going still in the parents bed.
Emotivity: Still rocking, but reduced. She
bears better frustration to which, usually, she reacts in more mature way. She
says "instinctively" badly of her sister but she loves her. Now, she
thinks that there is a young boy "that looks at her". At the party of
the parish, she has sung alone on the stage. She has irritability moments, of
which she realized as of something that doesn't depend from her will.
Health: She is doing well. Not still menstruated, but
from the development of secondary sexual symptoms it lacks a few to the
menarche. Indifferent to warm and to cool. Perhaps she feels the weather changing.
Therapeutic variation (daily doses, by the oral via): Piracetam and
glycine stopped.
Prescription: Glutamine 125mg; pyridoxine 75mg; amitriptyline 4mg;
amantadine 200mg; diazepam 4mg; fluoxetine 10mg; melatonine 3mg.
23 June 2005, the tenth checkup. She even improved.
Health: The physician discovered a beginning of kyphosis for which she
will do swimming. The menses are irregular, and some month they do not appear.
School: She attends a professional school for tourism. Her learning is
fit for the humanistic matters and for foreign languages. There are always
difficulties in computation, and she forgets the arithmetic signs or the
parentheses, but she seems to see more easily the spatial structure of the
expressions [??]. It seems that she knows how to play to Scala a Quaranta (A
cards' play).
Sleeping: She sleeps well, but if she is awake at night, she goes still
in the bed of her parents.
Behaviour: At school she has faultless behaviour, while at home she has
still some opposition behaviour. The relationship with her mother has much
improved. She shows a little more hyperkinesis. She goes to school with the
school bus, but some times she returned at home with subway + the bus. In
certain days, by now not predictable or explainable, her behaviour worsens. The
relationship with the smaller sister is more on a pair level, and she is not
more dominated. Nearly missing the dirty words. At the end of the visit she
gave me her hand to greet (It is the first time!)
Emotions: Much more controlled, even if, during the visit, she did a
"scene" of self-aggression, because the mother has mentioned her
initial affective interest for some companion.
Feeding: More regulated, she does not look for chocolate as in past, and
she keeps don't growing fat.
Therapeutic variation (daily doses, by the oral via): Hanging diazepam,
I prescribed delorazepam 1mg.
Second ten days of July 2006, the eleventh checkup.
School: at school she has been successful with some difficulties.
Sleep: She sleeps well, not wakes more early, but often she is going in
the bed of the parents.
Behaviour: There are days where she is strange. She says: " I want
to get angry" or: "I want to be angry with you." Now, she needs
again to touch objects. During this consultation she acted a great opposition
scene, very theatrical, because she was not allowed to go "to beat her
sister," as guilty of having taken an object of her ownership, although
the sister at once returned it.
Motility: Now, has difficulty to control her movements, because it appeared
some dysmetria.
Emotionalism: She does not agree to be different from her classmates,
and she reacts with oral aggressiveness.
Health: She is always been well off. Her menstrual cycle is always very
irregular.
Therapy (daily doses, by the oral via): Glutamine 125mg; Pyridoxine
75mg; AmitriptYline 10mg; Melatonine 3mg; Delorazepam 2mg; Amantadine 200mg;
Fluoxetine 10 mg.
First ten days of September 2007, the twelfth checkup.
School: She ended the third years of hotel-management
school, where had chosen the address of the office management. She got only the
certificate of completion of the studies, having attended a reduced program.
Her behaviour in the classroom was very suitable, and her relationship with the
classmates was well. Since last April, she was going to the school by herself,
without using the schoolboys. She had difficulties in learning the German, less
in the English. By using the computer, she is running well.
Sleeping: Now, she falls well asleep, but often, during
the night, she reaches the bed of her parents.
Behaviour: During the examination,`she was
always sitting (This is the first time that happens so), she corrected some
affirmation of her mother, when doesn't agree, but without any particular
verbal aggression. The oppositional behaviour goes on, but potentially as
initial and oral, like a true "Contrary Mary". She uses well the
mobile phone and often goes into chat lines. For this, as her mother says, she
wastes much money. Usually she eludes the obstacles.
She says that she does not know how to use the money, but this is not
completely true. How in past, she has moments where the relationship with her
becomes very difficult, either home or in the parents' shop, but this occurs
with reduced frequency. She started to have interest in the boys. Now, she
quarrels still with her sister, but much less.
Motility: It is sufficiently harmonic, and no more
hyperactive. His trunk tends to the kyphosis.
Emotions: It is much more controlled. She says "I do
not want to grow", but when menses appeared she was happy because even she
"was growing". Habitually is more serene, and she understands the
irony. She has some moments of dysphoria.
Health: As for the health, she has always been well
off. Menses come with more regularity.
Therapeutic variation: Amitriptyline 14 mg/die.
Discussion.
The Physician's Guide to Rare Diseases (1999) summarizes the
Smith-Magenis syndrome as a chromosomal disorder characterized by unusual
facial features, mental retardation, behaviour abnormalities and speech problems.
Its synonym is Chromosome 17, Interstitial Deletion 17p-. In most affected
people the microdeletion 17p- occurs as a spontaneous event.
The severity of a Smith-Magenis syndrome depends on the amount of
missing genetic material. Children suffering from it typically have unusual
facial features that include a wide nose, a flat midface, and a prominent
forehead and/or jaw. Their heads appear short and flat. A raspy or hoarse
voice, speech delays, hearing loss, and short wide fingers and toes also occur.
Growth delay, mental retardation and hyperactivity may occur. Self-abuse
may include head banging, wrist-biting, insertion of foreign bodies into body
orifices, and pulling out fingernails and toenails. Myopia and squint occur
frequently, while the detachment of the retina less often does it. Falling
asleep is difficult and to stay awake is common. Some children experienced a
high pain threshold, burning sensation, peripheral neuropathy, amyotrophy, and
absent or decreased reflexes. Congenital heart defects may also occur.
Convergent research now assesses the incidence of this chromosomal
anomaly as about one case out of 25000 newborns. Although owning the same
chromosomal anomaly, the phenotype of each person with Smith-Magenis syndrome
could have some differences.
Hypermotility, self-injurious behaviour, and sleep disturbance
distinguishes Smith-Magenis syndrome from many other genetic disorders (Di
Cicco et al, 2001; Finucane, Dirrigl and Simon, 2001).
Roccella and Parisi, 1999, reported epileptic crises are quite rare, but
an infant with spasms in extension.
The measured IQ ranges between 20-78. Most patients fall in the moderate
range of mental retardation at 40-54, although several patients scored in the
mild or borderline range (Greenberg et al., 1996).
According to Dykens and Smith (1998) sleep disturbance emerged as the
strongest predictor of future maladaptive behaviour. Medication to facilitate
sleep was used by 59% of SMS subjects (Smith, Dykens, and Greenberg, 1998).
The Smith-Magenis syndrome is probably under-diagnosed because the
facial abnormalities are mild. The behavioural problems with hyperactivity and
self-injuries are dominant, leading to the diagnosis of psychiatric pathology
(Lacombe et al., 1997; Livet et al., 1997).
On a report on three young children, Willekens, De Cock and Fryns (2000)
noted that behaviour problems included very demanding behaviour, severe temper
tantrums, hyperactivity, aggressive behaviour, self injurious behaviour,
sleeping problems and stereotypic behaviour. Head banging, hand, wrist or
finger biting, were also present. Insertion of objects in the mouth as well as
excessive nose picking was very frequent.
The so-called self hug when excited was present in one child. Behaviour
problems and psychomotor delay represented a major management problem for the
parents.
Although the stress levels of the families of children with
Smith-Magenis syndrome are comparable to the levels shown by the families of
children with Prader-Willi and 5p- syndromes, these levels are much higher than
the stress levels reported by families of children with mixed or nonspecific
developmental disabilities.
Now we are going to check the present case in this regard.
Unusual facial features, mental retardation, behaviour abnormalities and
speech problems are all present. As for facial features, she has her face
sharpened, with deep-set eyes, bulbous nasal point, thin upper lip, and slight
prominent jaw.
Mental retardation is evident and needs the help of a support teacher in
school.
Unmotivated opposition, aggression and self-abuse, rocking and recurrent
masturbation, largely stand for behaviour abnormalities.
Language is childish with
great use of aggressive and dirty words.
Other reported symptoms
are: Sleep troubles, short height, short fingers, toes skin's syndactily,
unusual voice, hyperactivity, clumsy walking and other motor delays. As for her
brain, ultrasound scans revealed wider ventricles, wider subarachnoidal spaces,
but normal brain structure.
Lacking careful
neuropsychological tests, perhaps all fields where the inverse brain dominance
exerts its role, are not fully evident. But the "Name the Opposite of the
Red" Test (Cocchi, 1994) confirms at least that the girl's brain does not
usually suppress the opposite that can easily be elicited.
Surely the negative
emotions, linked to heard words, have increased weight and the girl reacts to
them with very troubled behaviour. It is to remember that detection of negative
emotions seems a main feature of the non-dominant half-brain, usually the right
one (Wittling & Roschman, 1993; Schiff & Lamon, 1994; Schiff &
Gagliese, 1994).
The strong opposition in
response to apparent neutral orders or requests is a kind of an exaggerated
"the contrary Mary" character. Unlike "the contrary Mary"
there is not only a verbal opposition but also most contrary behaviour. At the
starting of the first consultation, her mother spontaneously and clearly spoke
about her daughter habit of always doing the opposite.
A third point deserving
attention is the choice of aggressive, derogating and dirty words even when the
girl is freely telling something.
As for me, I think that she
makes her lexical choice from the parallel memory archive where we store
opposite or negative words. I maintain that this archive has its room in the
non-dominant half-brain or is under the control of it.
Finally what she said is
not only provocative, if so, but a terrible program. It is astonishing and
quite unbelievable that one ten-years-old girl may affirm: "When I become
older, I will use [illicit] drugs."
By previewing her future
life, her assertion stands for a negative program or the usually judged
opposite of a right one. It does not seem a free (culturally different) thought
but a compelled one according to her neuropsychological impairment.
Incidentally, the old philosophical problem of the "free willing"
might have other facets.
I do not believe that these
four aspects I pointed out, come out from a unique brain function. It is more
probable that a general deficit - the lack of suppression of the opposite -
affects different brain structures or functions so giving the rise to
apparently similar behaviour.
Moreover I do not know if
this possible reverse brain dominance is a symptom that sometimes occurs in the
Smith-Magenis syndrome. I found some incidental report about opposition
behaviour, but not in the way I tried to describe. Some behaviours of
opposition are usual in mentally retarded persons and we claim that they are
linked to stubbornness in these people. Perhaps stubbornness and reverse brain
dominance are about the same thing (Cocchi, 1994) but the present case showed
this feature to a greater extent.
Although mitigated, this
feature is always present as exemplified by the following: "During a
written task at school she described her Christmas exactly as the opposite: No
gifts, no mountain holiday and so on."
As for drug therapy, I
found only one report in Smith-Magenis syndrome and it seems to me quite
interesting, because acting on excess adrenalin, as a possible stress reaction.
Nine children had
acebutolol, a beta(1)-adrenergic antagonist (10 mg/kg early in the morning) to
correct a paradoxical diurnal incretion of melatonin. Besides the suppression
of the abnormal incretion of melatonin, a significant improvement of inappropriate
behaviour with increased concentration, reduction of delayed sleep onset,
increased hours of sleep, and delayed waking was also noted (De Leersnyder et
al., 2001).
The drug therapy I
prescribed aimed to modulating stress reactions acting on GABA, noradrenaline,
dopamine, taurine, and promoting a better half-brain interaction with
piracetam.
After 86 monthes of drug
therapy improvements refer to self-aggression (She used in particular to bite
her hands ), to the sleep, to the motor hyperactivity, to the autonomy, to the
rocking, to the "vice" to break the glasses, to the oppositional
behaviour, to contrary behaviour, to the scholastic achievement, to the
socialization with the classmates, with the teachers, and with the younger sister,
to the repetitive masturbation, to the self-esteem, to the tolerance of pets,
to the bike riding, and also the use of dirty words improved.
Conclusion
This is the therapeutic
case-history of a girl aged 10 with microdeletion of the chromosome 17 who
presented singular features. The chromosomal disorder with unusual facial
features, mental retardation, behaviour abnormalities and speech problems drove
to the diagnosis of Smith-Magenis syndrome. Other evident behavioural symptoms
were strong opposition, a lower threshold to frustration with irritability,
aggression or self-abuse, derogating and dirty words, and negative thinking.
They have been linked to the prevalence for some functions of the non-dominant
half-brain.
A trial to modulate stress
reactions by drug therapy after 86 months led to improvements in self-injurious
behaviour (mainly hands biting), the sleep, hyperkinesis, autonomy, rocking,
the habit of breaking her spectacles, opposition, opposite behaviour, school
achievement, socialisation with classmates teachers and her sister, recurrent
masturbation, standing for home pets, bike riding, self-esteem, uttering dirty
words.
In July 2006 however, at
the checkup, she has shown clear behavioural regression, of which the mother
said an episodic fact [I did not agree to her, because even the appearance
of dysmetria, but, one year later, the mother probabily said the right
explanation ).
Here too, as it happened
for Downs (Down sybdrome),
and for Other genetic and chromosomal anomalies, the modulation of stress reactions
proved to be a suitable way dealing to reduced phenotypic expression of this
not otherwise modifiable chromosomal abnormality.
Aknowledgements
Many thanks to Hypposcates Editore, Milan
for having provided me the English Physician's Guide to Rare Diseases' text of
the Smith-Magenis syndrome.
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First published on Internet on November 15th, 2001. Copyright by R. Cocchi,
2001.
Author's address: Dr
Renato COCCHI, via Rabbeno, 3
42100 Reggio Emilia
(Italy)
renatococchi@libero.it
Genetic and chromosomal anomalies
Mental retardation
Drug therapy
Italian translation