PSYCHOSIS IN DOWN
CHILDREN: AN EPIDEMIOLOGICAL
AND CLINICAL SURVEY ON
413 SUBJECTS
Renato COCCHI, a neurologist and a medical
psychologist
Summary
From a representative sample ci 413
home reared Down's
syndrome subjects aged no more than 180 months at first consultation, 42
of them (27 M f15 F; average age: 7 years and 3 months; 40 having pure
trisomy 21, 1 mosaicism and 1 without any cytodiagnosis) were diagnosed
as suffering from childhood psychosis.
According to DSM-III,R early onset
Pervasive Developmental Disorder was ascertained in 39 childrem and late onset
Pervasive Developmental Disorder in the remaining 3 children.
Other clinical features of this group
of psychotic Ss were the reduction of male prevalence, in comparison both with
psychotic non-Down children and non-psychotic Down children. No significant
difference was found for prematurity, low birthweight or both, in comparison
with 371 Down controls, but 71.43% presented bruxism, as a signal of current
stress. Psychotic symptons reported do not differ from those found in psychotic
non-Down children. The 10.17% extraordinary prevalence of childhood psychosis
among Down children is pointed out.
Key words: Pervasive Developmental
Disorders; Down's syndrome; epidemioIogy; bruxism.
Autism
Down's syndrome
Mental retardation
*Symptoms
Italian translation
The presence of a childhood psychosis in
children suffering from Down's syndrome is a psychopathological outcome which
found scarce interest until recent years, although some cases were reported in
the literature [1-2].
In 1985 we referred on 13 cases out of a
non-selected consecutive series of 241 Down subjects [3].
In the same 1986 Gath and Gumley reported
19 cases out of 193 Down children, which is the enormous rate of 9.83% [4].
Even in 1986, during the 11th
International Congress of IACAPAP held in Paris I presented a 75' videotape
concerning 8 cases and their follow-ups after pharmacotherapy [5].
In 1987 I printed an epídemiological and
clinical synopsis on 25 cases [6], but in 1988 they were 40 out of 389 Down
subjects aged no more than 15 years at first consultation, with 10.39%
prevalence [7].
Lund, in 1988, pointed out the high
presence of ~this psychiatric pathology as overlapping the Down's syndrome [8].
In occasion of the Urbino Symposium on
childhood psychosis, I wanted to check again my previous data, which now refer
to a non-selected consecutive series of 439 Down's syndrome individuals.
Materials
and methods
The charts of 439 Down subjects all
recorded by myself during consultations between 1979 and June 1989 were
re-examined. These records refer to a non-selected consecutive series coming
from all regions of Italy.
Only the charts of subjects being less
than 15 years at first consultaion were retained. The choice of this age-limit
lies in the fact that 15 years is the upper limit in which pediatrics and child
and adolescent neuropsychiatry have their working field in Italy.Out of 413
eligible charts for this investigation, 239 were of males and 174 of females
with a M/F ratio = 137.36.
Cytodìagnoses have been found as it
follows:
pure trisomy 21: 382 Ss = 92.49%;
translocations: 4 Ss = 3.39%
mosaicisms: 15 Ss = 3.64%
presently unknown: 2 Ss = 0.48%
As for M/F ratio, very close to 134.25
found in a sample of Italian newborns with Down’s syndrome [9], normal
distribution of cromosomal anomalies rates along with countrywide provenance,
these 413 cases can be considered a representative sample of at least the
Italian population of Down subjects.
A group of these charts were sorted on
the grounds of the presence, during the first visìt, of symptoms such as
impaired sociality, impaired language development, motoric stereotypies,
sensory hyper- hyposensitivity, gaze aversion, rituals, self injurious
behaviours, echolalia, need for environmental sameness, unmotivated anxiety,
sudden changes of mood.
The following were also collected: sex,
mother's age at delivery, age at first visit, chromosomal diagnosis, history of
prematurity (< 38 weeks of fetal age), low birthwei~ght (< 2500 g) or
both [10], presence of bruxism, presence of squint, age of onset of the
abnormal behaviour, as remembered by the parents, history of seizures, epilepsy
or positive EEG.
Neither delusions, hallucinations, loss
of association nor incoherence were recorded during first and following
consultations and were therefore considered to be present in no case.
Diagnoses were definitively made
according to DSM-III, R [11].
Comparisons were made with the remaining
371 non psychotic Down children.
Results
According to target-symptoms 3 sub-groups
of probands have been selected:
SG 1, with the only presence of motoric
stereotypies: 38 Ss = 9.20%;
SG 2, with
presence of motoric and verbal stereotypies: 17 Ss = 4.12%;
SG 3, with presence of social isolation and at least 3
other target symptoms: 42 Ss = 10.17%.
Only Ss belonging to SG 3 were considered
as suffering from Pervasive Developmental Disorders.
The features of the SG 3 are as follows:
Sex : M = 27 (64.29%) and F = 15 (35.71%); M/F ratio =
180.
Chromosomal anomalies distribution:
pure trisomy 21: 40 Ss = 95.24%;
traslocations: 0 Ss = 0.00%;
mosaicisms: 1 S = 2.38%;
presently unknown: 1 S = 2.38%.
------------------------------------------------
Chi Square vs. Control Group, with Yates
correction: 5.29; N.S.
Mother's age at delivery
(this datum lacks for 2 children
seen once between 1979 and 1981): average 34 years 2 months, with SD = 6 years
6 months.
Average age of the
probands at first consultation: 7
years 3 months, with SD 3 years 9 months.
Table 1: Foetal age and
birthweight:
|
|
Index group (42 Ss) |
Control group (371 Ss) |
||
|
Prematurity |
6 Ss |
15.79% |
58 Ss |
15.93% |
|
Low birthweight |
1 S |
2.38% |
27 Ss |
7.28% |
|
Both prematurity and low birthweight |
6.Ss |
15.79% |
27 Ss |
7.28% |
|
Not recorded |
4 Ss |
9.52% |
30 Ss |
11.07% |
Chi Square, with Yates correction: 3.58
N.S.
Prevalence of squínt in the index group: 18 Ss = 38.10%
Prevalence of bruxism in
the index group: 30 Ss = 71.43%
Reported seizures, epilepsy
or only positive EEG:
previous West syndrome: 1 S = 2.38%;
previous seizures, even febrile seizures:
3 Ss = 7.14%;
previous apneic episodes: 1 S = 2.38%;
only positive EEG: 1 S = 2.38%.
Table 2: psychotic
symptoms in frequency order.
|
Behaviour |
Nr.of Ss |
% |
|
Social Isolation |
42 |
100.00 |
|
Language troubles and echolalia |
42 |
100.00 |
|
Motoric stereotypies |
42 |
100.00 |
|
Sudden changes of mood |
20 |
47.62 |
|
Gaze aversion |
20 |
47.62 |
|
Self-injurious behaviour |
19 |
42.24 |
|
Unmotivated anxiety |
17 |
40.48 |
|
Need for environmental sameness |
15 |
35.71 |
|
Sensory hypersensitivity |
13 |
30.95 |
|
Rituals |
2 |
4.75 |
Diagnoses, according to
DSM-III, R:
early onset Pervasive Developmental
Disorder: 39 Ss = 92.86%;
late onset Pervasive Developmental
Disorder: 3 Ss = 7.14%.
Discussion
Many points of this investigation need
clarification.
As it has been already affirmed [12], the
presence of so much Down subjects constitutes a great natural scientific
experirnent which can give us precious infornation to understand the
pathogenesis of a Iot of illnesses of normal individuals.
Aizheimer's disease is certainly the most
investigated fields and for my own ~part I carried out research on Cerebral
Palsy [13-14], squint [14] and non specific immune deficiency, the proposed
cause of increased susceptibility to upper respiratory tract infections in Down
subjects [15].
As for Pervasive Developmental Disorders,
with control groups of non Down psychotic children, I investigated again the
susceptibility to upper respiratory tract infections, self injurious behaviour
and its therapy [16-18].
By reference to the present
investigation, two aspects have immediately to be noted:
i. the extraordinary prevalence rate of
psychosis in Down children; the 10.17% here found having the same magnitude of
9.83% reported by Gath and Gumley [4];
ii. an M/F ratio much less preponderant
for males.
Gath and Gumley, among 19 psychotic Down
children found a sex ratio of 138 [4], which represents the usual gender
prevalence in Down subjects.
If we bear in mind this usually increased
prevalence of males among Down subjects, we have to admit a greatly reduced
gender incidence in psychotic Down children, as compared with Pervasive
Developinental Disorders in non-Down children.
This fact debates the asserted easiness
of male children to suffer from psychosis and even the presumed protective
effect of a double X chromosome should be evaluated from a different point of
view.
I did not find significant differences as
for the chromasomal distribution of the probands, and the mother's age at the
delivery of these Down children does not differ from what we had previcusly
found [31].
The comparison with the remaining 371
controls did not show significant differences as for prematurity, low
birthweight or both. These latters having been claimed as the most important
risk factors also for the onset of childhood psychosis [19], in Down children
their influence appears at least daubtful.
Compared with other research we made on
this same series of cases [14], while the slight increase of squint - a signal
of brain suffering - does not shed more light, a marked increase of bruxism - a
signal of current stress condition [20~21]- could be an important finding.
The history of seizures, epilepsy or
positive EEG seems having scarce importance, as compared with the same findings
reported in childhood psychosis of non-Down children [22].
Psychotic symptoms were not different
frorn those found in non-Down psychotic children - excluding the Symbiotic
Psychosis of Mahler, Asperger's Autistic Psychopathy and Rett's syndrome, for
its specific neurological features - although a lesser degree of symptom
sophistication has been noted.
In my opinion, the psychotic Down child
is more similar to a psychotic non-Down child than to a non-psychotic Down one.
The DSM-III, R allows more diagnostic
easiness, but there is the risk of summing forms which are possibly different,
from a neurochemical point of view. One has to speculate if the excess
prevalence of childhood psychosis in Down children could be put in relationship
with the continuous metabolic stress due to the dosage effect of the extra
chromosome 21. The consequence of this anomaly is the acceleration of all the
metabolisms, the control genes of which are allocated in the chromosome 21, a
metabolic acceleration which dates from the day of the conception.
In other terms, one can hypothesize that
any kind of stress is relevant for the aetialogy of childhood psychoses.
Is it out unrealistic to hypothesize
chiìdhood psychosis as the result of a neurochemical inbalance involving
several neurotransmitters, but having its point of departure in the inbalance
between GABA and glutamate, following a stress the organisin is unable to face?
The further paper I presented during the
Urbino Symposium and currently in press [23], as well as the videotaped
follow-ups of psychotic Down and non-Down children treated by pharmacotherapy
and presented also in Urbino seem to support this frame of reference.
References
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[3] Cocchi R., Occhialini O., Cocchi
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11th International Congress of IACAPAP. Expansion Scientifique, Paris 1986
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ICS 900, Elsevier, Amsterdain 1990 (in press)
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First published on lt. J. lntellect. lmpair. 1989, 2: 131-136
Author's address: dr Renato COCCHI, via Rabbeno, 3
42100 Reggio Emilia (Italy)
renatococchi@libero.it
Autism
Down's syndrome
Mental retardation
*Symptoms
Italian translation