CEREBRAL PALSY IN DOWN CHILDREN: THREE CASES
Renato COCCHI, neurologist and medical psychologist
Summary.
In a not selected consecutive series of
470 Down syndrome subjects coming from all the Italian regions, only three of them
presented CP, but its origin was solely postnatal. Nevertheless, the occurrence
of CP following pre-, peri- and neonatal insults cannot be rejected.
Nevertheless, the present epidemiological data seem to support the hypothesis
that Down Ss are more protected during the foetal age, at birth and in the
first days of life from the paralytic outcomes of anoxic damages.
Key words: Down'syndrome; postnatal cerebral
palsy; epidemiological survey; 3 cases.
Italian
translation
Down syndrome
Mental retardation
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I think that the relationship between Down syndrome and cerebral palsy (CP) did
not get till now the whole attention it should deserve. A deeper study can
surely bring light on some mechanisms and followings of the anoxic-ischemic
brain damage related to pre-, peri-, neo- and postnatal troubles as the CP
root.
In my first epidemiological research
(Cocchi, 1987) I noted that there were no CP cases from prematurity, low
birthweight or both - the major risk factors - among 381 home reared Down
children.
In fact I did not find any CP of pre-, peri-
and neonatal origin although Down Ss present high prevalence of those troubles,
which account for 75% of CP causal factors (Susser et al., 1985).
A following research on CP and squint
(Cocchi and Branchesi, 1988) again did not find any CP but 3 of postnatal
origin among 424 Down Ss where 43 new cases were added to the previous 381.
This fact surprised us because we had to find at least 3 CP coming out from the
presence of both risk factors above mentioned. Now, being this series increased
by 46 new cases, the CPs sum did not change, with the previous recorded 3
postnatal ones. So I decided to refer about these three CPs.
Cases
histories.
Case 1: Female aged 6 years and 2 months at first consultation. She had her
chromosomopathy diagnosed as 47, XX, +21. A right hemiparesis is evident. The
young girl suffers also from the right hip dislocation, which had surgery.
Nevertheless, the motor impairment with articular laxity sometimes drives off
the head of the femur from its acetabulum. Her father learned how to make a
reduction and can work it when in need. In past she had a heavy atrial
ventricular malformation and she got surgery when she was 17 months old.
Nothing is to note about her embryonal and
foetal life, delivery lasted 5 hours, after obstetricians induced it by drugs
at 40 weeks after her last mother menses. Her birthweight was 2750g and
perinatal cyanosis appeared. When she was 3 months she had a heart catheterisation,
followed by one month of intensive care after three days of convulsive fits and
absences. About the time of her discharge physicians noted her hemiparetic
impairment.
When she came at first consultation she had
even an abnormal EEG, but without any current antiepileptic therapy. A CAT scan
showed a voluminous encephalic cyst in the sn front-parietal brain area, due to
brain damage.
The motor examination showed a decreased use
of the right arm; unstable, precarious and slackened off autonomous walking
(reached at 60 months), with her feet polygon enlarged. She always did motor
rehabilitation.
Case 2: Girl aged 7 years and 4 moths at first consultation. Chromosomal
diagnosis: 47, XX, + 21. She suffers from right hemiparesis, quite reduced by
rehabilitative therapy. Besides the chromosomal anomaly there is an early onset
Pervasive Developmental Disorder (autism) with symptoms: Social isolation,
motor stereotypies, gaze aversion, unmotivated sudden panic attack, sudden mood
change, self-aggression, language development stop (lallation stage), sameness.
The delivery was in time after pregnancy
without any trouble. The delivery lasted less than two hours, with 2800g
birthweight, perinatal cyanosis and pathological icterus. In first days of life
squint appeared.
Upper respiratory tract infections' easiness
came out very early, and when she was 8 months she caught a heavy tonsillitis
with very high fever and needed heroic antibiotic treatment. Soon after her
mother realized that the daughter's right half-body had less motor skill.
The hemiparesis got confirmation and
rehabilitative therapy started, lasting years with sustained rhythms. She
achieved autonomous walking when she was 66 months.
At consultation the EEG was normal for her
age. She showed fair although clumsy autonomous walking. Articular laxity
persists at moderate degree and parents refer that walking makes her quickly
tired.
The neurological examination has some
difficulties to point out the paretic aspect even because the girl does not
collaborate. She continues her rehabilitative treatment although with slower
rhythms than in past, since a stopping attempt had the exit of motor
regression.
Case 3: Male aged 3 years and 10 months at first consultation, with chromosomal
diagnosis: 47, XY, +21. He shows a hemiparesis to left half-body. The mother
reported normal pregnancy, with full term birth, and birthweight = 3500g.
Delivery had some complication, with use of the vacuum extractor, perinatal
cyanosis. During the neonatal period an icterus appeared with maximum blood
bilirubine peak at 17.5 mg/ml.
The paresis went out when he was 20 months
old, following right front.-temporal area encephalitis, pointed out by CAT scan
during his hospital stay.
He has dextral lateralisation, and achieved
autonomous walking at 20 months, just before the hemiparesis. He could maintain
autonomous walking although first with many difficulties. Walking is very
clumsy because the left leg is 0.5 cm shorter than the other one.
At neurological examination, I noted also
reduced voluntary motor ability of the left arm, moderately increased muscle
tone, mainly in the left leg, and a varus foot. He always had, and is having
motor rehabilitation.
Discussion.
The present three cases, coming out from a
not selected consecutive series of 470 Down Ss, suggest a CP prevalence = 0.6%.
This result is more than twice of what reported by Kundriavcev et al., 1985.
These researchers found 64 CPs out of about 28000 newborns (prevalence = 0.23%)
in the Rochester (USA) area.
In Finland, Iivanainen and Hongell (1986)
reported the prevalence of CP in Downs = 5.1%, referring on 156 resident Ss of
a specialized institution.
Although the Finnish sample is probably not a
representative sample, because it deals only with inpatient Down Ss,
nevertheless it suggests an increased incidence of CPs in Downs.
As for Italy, Bertamino (1984) reported
11.4% of "symptoms of a lesion at the neurological examination" among
which "spasticity, etc." within a casuistry of 70 Ss seen a hospital
specialized unit. Here too, although the sample is highly debatable as for its
representativity, we cannot deny a trend to an increased CP prevalence in Down
Ss.
The epidemiological research of Kundriavcev
et al., 1985, has another element worthy interesting. The CP diagnosis had its
room before the 17th day of life, so the 64 CPs have had their origin following
pre-, peri- and neonatal risk factors. According to Susser et al., 1985,
postnatal CPs do not sum over 5-10%
Of all CPs, then what I found is a very
anomalous datum as compared to non-Down Ss.
It is so for two reasons: The more than
double prevalence and, overall, the exclusive postnatal origin of these CPs.
When we agree the percent distribution of
Susser et al., 1985, if we equal our three cases to 10%, we had to find at
least 22 other CPs from pre-, peri-, and neonatal risk factors, which account
for 75% CPs in normal Ss.
We could admit that the case 2 did not
immediately have the correct diagnosis ( an improbable but possible hypothesis)
and that evidence of this CP when the child was 8 months has to be referred to
a non-postnatal CP. The remaining two cases with truly and documented postnatal
cause, are always too many, and we ought to find at least 15 other CPs from
pre-, peri- or neonatal risk factors.
Then there is a sure excess of CPs of
postnatal origin among our Down Ss. This fact could have an explanation with a
greater ability of the foetus and newborn Down to fight negative anoxia
outcomes, and of the toxic action of oxygen free radicals. This particular
protection could decrease or end for various reasons during the first months of
life (Cocchi, 1990).
If confirmed, this datum could bring new
light on the Down syndrome itself, and on CP psychopathological mechanisms in
normal children.
References
Bertamino F.: Rilievi sulla evoluzione
psicomotoria in bambini con sindrome di Down. In: Ce.Pi.M.: Aspetti
epidemiologici, genetici, clinici, riabilitativi e sociali della Sindrome di Down.
Ce.Pi.M., Genova 1984: 255-263.
Cocchi R.: Presenza di scavengers e
incidenza di paralisi cerebrali infantili da prematurita` e basso peso alla
nascita in 381 soggetti Down allevati in famiglia. Giorn. Neuropsich. Eta`
Evol. 1987, 7: 317-323.
Cocchi R.: The birth as a second breakpoint
in the biological balance of Down's syndrome subjects: confirmations and
implications. Ital. J. Intellect. Impair. 1990, 3: 179-183.
Cocchi R., Branchesi R.: Is there a causal
non-connection between squint and cerebal palsy through prematurity and/or low
birthweight in Down syndrome children? Ital. J. Intellect. Impair. 1988, 1:
141-144.
Iivanainen M., Hongell K.: Neurological
aspects of mentally retarded persons with chromosome aberration. In: Berg J.M.
(ed): Sciene and service in mental retardation. Methuen, London 1986: 52-62.
Kundriavcev T., Schoenberg B.S., Kurland
L.T., Groover R.V.: Cerebraì palsy - Survival rates, associate handicaps and
distribution by clinical subtype (Rochester 1950-1976)._9 Neurology 1985, 35: 900-903.
Susser M., Sergievsky G.H., Hauser W.A.,
Kiely G.L., Paneth N., Stein Z.: Quantitative estimates of prenatal and
perinatal risk factors for perinatal mortality, cerebral palsy, mental
retardation and epilepsy. In: Freeman G.M. (ed): Prenatal and perinatal factors
associated with brain disorders. NIHP, Washington D.C., 1985: 359-439.
This paper was first printed in Italian on It. J. Intellect. Impair. /
Riv. It. Disturbo .Iintellet. 1990, 3: 327-330.
Author's address: Dr Renato COCCHI, via Rabbeno,
3
42100 Reggio Emilia
renatococchi@libero.it
Italian translation
Down syndrome
Mental retardation
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