A GIRL AGED TEN WITH SMITH-MAGENIS SYNDROME

AND POSSIBLE REVERSE DOMINANCE OF SOME BRAIN FUNCTIONS.

By Renato Cocchi, a neurologist and a medical psychologist.

(Italian translation / traduzione in italiano)  .

Abstract.

The case of inverse brain dominance in a girl aged 10 with microdeletion of the chromosome 17p and singular features is reported. 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 ultrason scan. Besides academic difficulties and disturbed social behaviour, other evident symptoms were strong opposition, a lower threshold to frustration with irritability, aggression or self-aggression, use of derogating and dirty words, and negative thinking.

They have been linked to the prevalence of the non-dominant half-brain for some functions.

Key words: Smith-Magenis syndrome; reversebrain,opposition, inverse brain dominance; girl.

Cases

Theoretical bases

Home Page // Pagina iniziale

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." This is the second case I found in a child with a chromosomal anomaly, the first being a Down's syndrome case previously referred (Cocchi, 1998).

The case.

Female, aged 10, with a chromosomal anomaly in the short arm of the chromosome 17 (ish del 17)(p11.1p11.2)(D17S258-), she ended the fourth 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 38^th 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 bilirubine. 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 (25^th percentile), her height 128 cm (10^th percentile) and her skull round 51 cm (25^th 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. 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 hyperactive, her walking is clumsy, she does not easy go downstairs, she does not ride the bike. The mother refers about recurrent rocking and masturbation, as well as 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. 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.

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.

Difficulty in falling asleep or remaining asleep 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. 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 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 behaviours. It is to remember that detection of negative emotions seems a main feature of the non-dominant half-brain, usually the right one (Wittling e 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 behaviours.

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 behaviours.

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 reports 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.

Conclusion.

This new case of inverse brain dominance in a girl aged 10 with microdeletion of the chromosome 17p 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 started since first consultation. Results will appear on www.stress-cocchi.org before next summer (2001).

Aknowledgements.

Many thanks to Hyppocrates Edizioni Medico-Scientifiche, Milano, for its kind help.

References.

AA. VV. : Physician's guide to rare diseases (Italian edition of the 2^nd American edition) Hyppocrates, Milano 1999: 178-179.

Cocchi R.; *Defective hemispheric dominance and cognitive behaviour: Speculative considerations. lt. J. lntellect. lmpair. 1994, 7: 19-27.

Cocchi R.: *Opposite half-brain dominance of specific functions? Another case in a Down child under drug therapy It. J. lntelled. lmpair. 1998. 11: 151-156.

Finucane B.M. et al.: Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome. Am. J. Med. Genet. 1993, 45: 443-446.

Finucane B.M. et al.: Mosaicism for deletion 17p11.2 in a boy with Smith-Magenis syndrome. Am. J. Med. Genet. 1993, 45: 447-449.

Greenberg F. et al.: Molecular analysis of the Smith-Magenis syndrome: A possible contiguous-gene syndrome associated with del(17)(p11) Am. J. Hum. Genet. 1991, 28: 627-632.

Moncla A. et al.: Smith-Magenis syndrome: A new contiguous gene syndrome: Report of three new cases. J. Med. Genet. 1991, 28: 627-632

Schiff B.B., Gagliese L.: The consequences of experimentally induced and chronic unilateral pain: Reflections of hemispheric lateralisation of emotion. Cortex 1994, 30: 255-267.

Schiff B.B., Lamon M.: Inducing emotion by unilateral contraction of hand muscles. Cortex 1994, 30: 247-254.

Wittling W., Roschmann R.: Emotion-related hemisphere asymmetry: Subjective emotional responses to laterally presented films. Cortex 1993, 29: 431-448.

First published on Internet on April 16th, 2001. Copyright by R. Cocchi, 2001.

Author's address: Dr Renato Cocchi, via Rabbeno, 3

42100 Reggio Emilia (Italy)

renatococchi@libero.it

Traduzione in Italiano

Cases

Theoretical bases

Home Page // Pagina iniziale