SELECTIVE MUTISM AND
DOWN SYNDROME IN A 15-YEARS-OLD PERSON: IS THIS THE FIRST CASE REPORT?
Renato COCCHI, a neurologist and a medical
psychologist
Summary.
An adolescent with the syndrome of Down
(A standard trisomy 21), already taking an antistress drug therapy since he was
six years old, clearly presented since his 15 years an evident form of
Selective Mutism when attending a high school.
The author did an analysis of the frame
of the Selective Mutism, according to the literature data, and reported even
the whole clinical-therapeutic history of the subject since he was six years.
From his mutistic behavior, the author
suggested an involvement of the visual channel and brain noradrenalin.
Being this an exceptional association,
without any report on the literature among the 1960-2003 years, it is suggested
that it should be the first case described.
Key words: Selective mutism, Down syndrome,
association, new syndrome, young male, stress.
Home Page / / / Pagina iniziale
What follows is the report of a Selective
Mutism trouble which became evident in a Down young person aged about 15 years,
after pointing out the frame of this unusual trouble of the verbal
communication.
The Selective Mutism:
Its definition and clinics.
The Selective Mutism represents a relatively
rare clinical syndrome in which children with normal verbal skills totally
refuse to speak in particular settings for prolonged periods of time [1].
As a matter of facts anyone suffering from
it does not use more this as a privileged tool for communicating. It happens so
in his relationships with particular persons, usually teachers above all, but
even class mates [2], or rarely, other people [3].
It should be then differentiated on one
hand, from delays of speaking, and, on the other hand, from the complete
muteness acquired, that instead it is always so with everyone, being episodic
or long lasting.
The nonverbal communication, with the persons
the child does not speak with them, may remain unchanged, a fact that makes
evidently that is not a refusal to talk. This doing not succeed in speaking
("the mutism") is not a choice (it is not "elective ").
The traditional name of "elective
mutism" however is still broadly used, even if fully unsuitable for
defining this trouble.
This curious behaviour becomes usually
evident in the period of the primary school, when the verbal communication
between the pupil and the teacher is a need for checking learned information.
For what concerns Italy, the teacher, who
rarely had knowledge on this morbid possibility, may try to induce the child to
speak him/her, but he/she may feel refused from the child, after failing such
an effort. For the rest, this child seems to have a normal school life, without
making any troubles of the daily school course. From that it follows that,
usually, the child comes left at rest, till the teacher does not realize that
he/she shows a similar communicative deficit even in other situations, and some
learning problems [4].
It is then that the disability comes
revealed to the family and the child gets a visit of one health professional(a
psychologist or a child neuropsychiatrist). At home however the child speaks
quickly and without any inhibition.
Mutism severity varies markedly in different
environmental settings [5]. The incidence of this trouble accounts between 0.2%
and 1% of the childhood population. It is more common in girls, [3] - a fact
that distinguishes it from the other child neuropsychiatric pathology that is,
usually, prevailing in the male gender [6] - and is seen in all social strata.
A background of migration and early developmental risk factors is also quite
common [3].
Etiopathogenesis.
Etiology of this disorder seems to be
multifactorial. The important etiological factors are: Minimal brain
dysfunction, somatic or psychological trauma, particularly during the speech
development and a family structure, especially the mother-child relation [7].
There is not then, among the various authors
that wrote on this trouble, any accord on the causes of the selective mutism.
The psychopathologic antecedents, the relational situations where it comes out,
the symptoms that can accompany it are the more different, and do not help to
evidence a specific cause.
It may have those as assessed antecedents:
- a family predisposition to the troubles of
the language;
- delivery troubles, mainly with peri-
neonatal anoxia;
- a severe precocious whooping-cough;
- a toxicosis;
- precocious convulsions.
Following factors can be found, but not
always:
- marked conflict situations with the
parents, and/or with brothers and sisters;
- troubled mother-child relationship, by its
own or as the result of an altered husband-wife relationship, with ambivalence
feelings and repressed hostility, or with maternal overprotection;
overdependence from the mother.
It may keep company with:
- normal intelligence;
- school learning delay and false mental
retardation;
- feeding difficulties;
- the so-called "neurotic"
masturbation;
- enuresis, tics;
- nail-biting;
- mood depression, nearly constant anxiety,
inhibition, isolation;
- character and behavioural troubles;
- mental troubles that prelude to a
psychotic destructuration of the personality [8-15].
Now, the prevailing opinion is to consider
the selective mutism as a manifestation of the social phobia rather than a
distinct diagnostic syndrome [16-18], since persistent selective mutism
typically presents in anxiety disorders [19-20].
From here listed, it makes sense that the
selective mutism is a symptom, and not an illness apart. With every probability
is a depressive symptom, in a broader sense, much more that it always keeps
company with other depressive symptoms, as understood as inhibition to certain
brain neurochemical mechanisms.
As it can have as antecedents whether
well-known somatic causes or psychological-relational ones, may be a further
confirmation of this suggestion.
The explanation that the present author
thought more probable, is that it has the phenomenal equivalent of a temporary
inhibition of neurochemical circuits that preside to the verbal production.
This is creditable to the fact that the
person with which the child doesn't succeed to speak, arouses anxiety in him,
already fragile. Such a level of anxiety could modify temporarily the
neurochemical balance of the motor area of the verbal language, by lack or by
excess of one or more brain neurotransmitters [6].
The total acquired muteness, can arise
either from a somatic agent (viral encephalitis, for example) either from a
psychological agent (a strong fear). Delays of language development can find
sound benefits by an antidepressant-anxiolythic therapy. So both drive to the
confirmation of this hypothesis, even because the good results in the selective
mutism either by some pharmacological therapies, either by psychological and
behavioural approaches.
Therapy.
The selective mutism is often described as
particularly treatment resistant [1;21].
From what mentioned above we may understand
why a series of therapeutic approaches, all by himself can have good
effectiveness, as different researchers reported.
In particular the therapy of the elective
muteness can use:
- a psychopedagogical treatment in the
school [17];
- an individual psychotherapy [22];
- a family therapy [7];
- an occupational therapy, based on
activities of daily life [23];
- a cognitive therapy [24];
- a behavioural therapy, reducing speech
anxiety in social situations and generalization to not therapeutic situations
[25-26];
- an antidepressant-anxiolythic therapy [6].
The fluoxetine gave good results on it [27].
The most promising treatment results have
thus by far been achieved through a combination of cognitive behaviour therapy
and supportive cooperation between parents, the school, and the treating child
psychiatrist, occasionally supplemented with pharmacological treatments such as
monoamine oxidase inhibitors, namely phenelzine [24;28], selective serotonin
reuptake inhibitors (4;24;28].
These may be well ineffective, and it must
be remembered that the condition often resolves on its own [23].
The case history.
A male boy, of 6;1 years with Down syndrome
(47 XY +21), born from a mother of 37 years, came at first consultation in
1991. No problems during pregnancy were reported. Deliver at due time, with
Cesarean section, the newborn weighed 2950 g. No cyanosis, nor respiratory
distress, nor pathological jaundice occurred. Not particular symptoms in the
first year life, if not some constipation. Now he attends the nursery school
and, in spite of speech rehabilitation, he says only some words, but without
any pronunciation trouble.
He doesn't have his stumpy neck or fingers.
His penis has normal proportions, according to the endocrinologist, but there
is not any erection. Spastic constipation was also referred. Usually timid,
with often his thumb in his mouth. He has bruxism only in the daytime. Food
choice is reduced (hyponeophagia), without raw vegetable and fruit. He does not
like sweet things (he likes only some ice cream ) and the same for meat or cube
broth. His relationship with his mother is adhesive, and he shows hyperkinesis.
He stands badly the heat and has some easiness to upper respiratory tract
infections (he needs at least two antibiotic therapies each year).
Drug therapy prescribed (daily monodoses by
the oral via): Glutamine 90 mg, pyridoxine 150mg, diazepam 1mg (all as
antistress drugs) S-adenosil-L-methionine 100mg, tetrahydrofolates 7.5 mg (as
integrating drugs for specific needs in Down syndrome persons [29-32] and
pemoline (as a dopaminergic drug for hyperkinesis).
In 1994 the child attended the second year
of the elementary school. He has always token drug therapy, as modified
according symptoms, and now he is no more a hyperkinetic boy, decidedly
left-handed. He uses better the verbal language, with 4-5 words sentences, and
his new words have clear pronunciation. His teachers and his speech therapist
noted this improvement. At school his behaviour is well. He reads well and is
interested in reading, remembering what he reads. He uses writing by describing
a visual thing in front of him (writing on a model). As for arithmetic, he
knows the digit sequence till 20, can do additions and subtractions till 10. At
home he tells what occurred at school.
In 1995, always in therapy with drugs, he
speaks much more(even too much at home, as his mother said). If he is speaking
in a hurry his pronunciation becomes worse. He is reading well, and can write
small sentences of his invention. Now, he knows the digit sequence till 60, and
in this range he does additions and subtractions with two figures. This year he
started multiplications and divisions, but with difficulty because he does not
know well the multiplication tables.
Reviewing with the parents the case history,
perhaps some selective mutism already had occurred, but it was not identified
as the same, because the language difficulties were attributed to the Down
syndrome itself.
In 1996, when He is 11 years old, the
bruxism completely disappeared. He has learned to ski. He has done the IV
course of elementary school, and at school he was more committing himself. He
is fairly well reading, does write short sentences, does multiplications. His
speaking improved, and he is speaking much. His diet is lacking in fruit and
raw vegetables. As for his health, he did well: a few of cold and only one
antibiotic therapy in the year. No he is weighing 38kg. The tongue appears less
sulcate. He is very strong, and his physical look improved.
Prescribed therapy (daily monodoses, all by
the oral via): Glutamine 250, 125mg thiamine + 125mg pyridoxine + 500mcg
cyanocobalamin (Benexol B12 TM), alternation with 15mg tetrahydrofolates,
carbamazepine 200mg, diazepam 2mg, + a polyvitaminic compound with mineral
salts, one tablet each week.
In 1997, his health did well. He does not
bike. He speaks very much. Beyond further improvement of his speaking, and of
bodily growth (weigh 45kg, height 153.5cm, at school he reads well, writes
well, even in italics, does the multiplications and easy divisions. Now he does
well the grammatical analysis. He remembers what he has read, but only if he
can answer to specific questions about. The speech rehabilitation professional
finds verbal development very well.
The drug therapy did not have any change.
In 1998, his stubbornness was much more
evident. He attended the first year of a junior high school, with discreet
results. In this school year he succeeded to write a composition by himself. The
mother says that to do him the homework done, was a struggle. His activity in
the swimming pool and in endurance skiing is well. His language is well, but he
has the habit to speak in a hurry. Height = 159.5cm, weigh 49kg. Masturbation
is normal for the age. As for his health he did well, sleeps well. I have
restarted to suck his thumb.
Therapeutic variation (daily monodoses by
the oral via): Glutamine 125mg; l-alpha-glyceril-etanolamine chloride 250mg.
At the annual checkup, in 1999, he resulted
having increased opposition. He attended the second year of his junior high
school, with very good notes in music and in art education. His verbal language
did not make further improvement. His diet is lacking raw vegetables, and
cheese. As for his health, he did not get evident any problem, but a low level
of T3 (3iodine-tironine), and some masked depression had detection during the
present consultation.
Therapeutic variation (daily monodoses by
the oral via): Viloxazine 50mg added.
The checkup in 2000: After some months he
stopped taking viloxazine. He has given the examination of final year of the
junior high school with "good" as summarizing note. He will enroll in
a senior high school for agrucolture technical experts. He is eating of less.
Height = 162.5. Opposition is his usual habit. In school learning, he has good
and bad days, with difficult relationship with his support teacher, resolves
mathematics problems with the computer, that he handles well. Even does not eat
raw vegetable. Verbal language did notimprove, but he inclines to give answers
in the opposition sense. He has pimples from stress in the back.
Therapeutic variation (daily monodoses by
the oral via): Glutamine and l-alpha-glyceril-etanolamine chloride went out.
Taurine 500mg and glycine 150mg added.
The 2002 checkup: Height 163.5cm. He does
not speak with his teachers, classroom mates, his support teacher, the
headmaster. At home he speaks very much and quickly. In the swimming pool he
normally speaks, as well in other out school settings. For the first time the
diagnosis of selective mutism was given his parents. Now he is inclining to be
with his head bent forwards, and is often sucking his tongue. He sleeps well
and his health ran well.
Prescribed therapy (daily monodoses by the
oral via): . Glycine and taurine stopped. Glutamine 125mg,
S-adenosyl-l-methionine (SAMe), 100mg added. 125mg thiamine + 125mg pyridoxine
+ 500mcg cyanocobalamin alternating with 15mg tetrahydrofolates, 200mg
carbamazepine, 2mg diazepam, a polyvitaminic compound with mineral salts, one
tablet each week, all went on.
The last checkup, in 2003: Selective mutism
is still present. What is surprising is that he speaks by telephone with the
support teacher (asking him how resolving homework) with whom he does not speak
when the teacher is present. The same telephone speaking happens with the class
mates.
Being done a great wrong by a classroom
mate, he became very angry and reported it by speaking to the headmaster. The
wonder of the headmaster was great, because it he spooks him for the first
time, and after it he did not speak again with the headmaster. More inclined to
go out with his parents, even only to go to the supermarket. He does not always
succeed in managing money. There has been a regression as for his diet. Now he
eats more bananas ( two every day ) and many ice creams. At home tends a little
to being served.
Therapeutic variation (daily monodoses by
the oral via): Glutamine stopped. Drug regimen: 200mg SAMe, chlomipramine 10mg,
amantadine 50mg, 125mg thiamine + 125mg pyridoxine + 500mcg cyanocobalamin
alternating with 15mg tetrahidrofolates, 200mg carbamazepine, 2mg diazepam, a
polyvitaminic compound with mineral salts, one tablet each week. Results were
not still checked.
Discussion.
As I have written in the introduction, I
believe that we are dealing with the first described case when is appeared an
association between selective mutism and the syndrome of Down.
I found reported associations between
selective mutism and chromosome 18 anomaly [33-34], with the fragile X
chromosome [35] and with mental retardation in general [36].
Gray and coll. investigated two dizygotic
pairs of twins, concordant for the presence of selective mutism, but differing
because in one of them there were normal intelligence and troubles of
expressive language. In the other pair there were mental retardation, and
troubles of both receptive and expressive language [37].
Kristensen and Torgersen, in their study,
suggested different familial transmission in two subgroups of children with
selective mutism [38].
All that does not help to put this case into
a possible frame of reference.
The case here described is not only unusual
for the association between syndrome of Down and selective mutism, but even for
another fact. That is the appearance of the selective mutism when the subject
had in course an antistress therapy from at least nine years.
As for the theoretical bases of an
antistress therapy, I copy here what I previously wrote and posted in Internet
(see: www.stress-cocchi.net).
Operative definition of stress used as a
guideline:
We term stress a set of relations linking
external or internal stressors of physical, chemical, biological / metabolic,
and psychological / social origin to nonspecific reactions of a living organism.
These reactions come out from the homeostasis' modification elicited by the
stressor or stressors, and act as a common final pathway.
Stress reactions can be due from external
stressors or internal stressors or both and depend on individually set genetic
and acquired abilities [39] (see: www.stress-cocchi.net/Drugs6.htm)
Some consequences:
1. Any internal biological-metabolic
modification capable to disrupting homeostasis can cause stress reactions, as it
happens for the fall of the progesterone preceding the menses (see:
www.stress-cocchi.net/Speculation3.htm).
2. Every illness can have symptoms of stress
as accompanying symptoms besides its direct symptoms.
3. The modulation of stress responses can
give some relief to every illness, even to genetic-chromosomal diseases.
(www.stress-cocchi.net/Down' s syndrome;
www.stress-cocchi.org/Other genetic or
chromosomal anomalies) Moreover it can promote cell-mediated immunity against
every type of infections (www.stress-cocchi.net/Immunity).
I reported the first drug treated Down
subject in my pioneering paper on easiness to infective respiratory diseases in
depressed children (case no. 15) [40] where I used the current antistress drug
therapy (glutamine, pyridoxine, diazepam).
Premorbid speech and language disorders
played a role in one third of their 100 cases [3].
In the Down subject, difficulties in the
acquisition of the verbal language are nearly the norm, and those I saw during
the first visit of the present case were usual, although he was currently given
a speech rehabilitation therapy.
The antistress therapy [41] (see:
www.stress-cocchi.net/Down14.htm) I prescribed at the end of the first visits
had support of the following symptoms of stress:
bruxism [42](see:
www.stress-cocchi.net/Down19.htm);
constipation [43] (see:
www.stress-cocchi.net/Symptoms3.htm)
not erection of the penis [43]; see English
transaltion: www.stress-cocchi.net/Down13.htm)
reduced foods' choice [44] (see:
www.stress-cocchi.net/down11.htm)
not liking if not disgust for sweet [45-46]
(see: www.stress-cocchi.net/Down24.htm)
not liking if not disgust for meat broth
[46] (see English translation: www.stress-cocchi.net/Down24.htm)
intolerance to the heat [47]( see English
translation: www.stress-cocchi.net/Down27.htm)
Depressive symptoms were:
Timidity; Thumb in the mouth. [48-49](see
Englisg translation: www.stress-cocchi.net/ Depres2.htm;
www.stress-cocchi.net/drugs8.htm)
Even hyperkinesis, rather frequent in Downs
[49] (see: www.stress-cocchi.net/Symptoms4.htm), had specific drug treatment.
As for selective mutism in this adolescent,
information coming from the parents does think that are dealing with something
that implicates the visual channel. The boy speaks by telephone with his
support teacher or with his class mates with whom he does not speak in their
presence.
Moreover, the fact that, when angry, he was
successful in speak without difficulty with the headmaster, with whom he did
never have spoken, and did not speak in a further time, drives to think that
the adrenalin increted by the angry situation has partly replaced deficient
brain noradrenalin, in some areas linked to the expressive verbal language.
According to this last observation, I
prescribed a dopamine agonist like amantadine, by aiming that increased
dopamine will make more transformation of it into noradrenalin.
Although this adolescent was given an
antistress drug therapy since he was six years old, he had selective mutism.
Can we infer that selective mutism and stress have nothing to do each another?
Or the current antistress drug therapy cannot act on it? I hope that the result
of amntadine prescription would throw some light on these questions.
Finally, if this one is only a particular
case, or if it does not differ from the reported others, and from social
phobias, it is something that needs other confirmation.
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syndrome: A survey on 510 persons. It J Intellect Impair 1997, 10:19-23.
Posted on Internet on March 2004.
Copyrigth by Renato Cocchi, 2004.
Author's address: dr Renato COCCHI, via Rabbeno, 3
42100 Reggio Emilia
(Italy)
renatococchi@libero.it
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