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Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years.
[cohen syndrome]
Our
purpose
was
to
perform
the
first
systematic
neurological
,
neurophysiological
and
psychological
study
of
18
patients
with
Cohen
syndrome
(
MIM
no
216550
)
,
aged
11
months
to
57
years
(
median
27
years
)
.
All
the
patients
had
the
essential
features
of
this
syndrome
,
i
.
e
.
,
typical
facial
and
structural
findings
,
mental
retardation
,
microcephaly
,
ophthalmologic
symptoms
,
granulocytopenia
and
a
cheerful
psychic
disposition
.
Children
with
the
syndrome
were
considered
normal
at
birth
,
but
upwards
of
6
to
12
months
,
psychomotor
retardation
became
obvious
.
The
first
symptoms
were
microcephaly
,
which
manifested
itself
by
the
age
of
6
months
to
1
year
,
as
well
as
hypotonia
and
delayed
developmental
milestones
.
Cohen
children
learned
to
walk
at
2
to
5
years
of
age
.
Language
development
varied
markedly
.
Neurological
symptoms
did
not
progress
.
All
patients
had
normal
EMGs
.
The
three
youngest
(
aged
11
months
,
3
and
5
years
)
had
normal
EEGs
,
whereas
the
remainder
had
low
-voltage
EEGs
.
No
irritative
spikes
or
epileptoformic
foci
were
found
.
Nine
patients
had
quick
beta
transients
.
Of
the
18
patients
examined
,
4
were
profoundly
,
11
severely
,
1
moderately
and
2
mildly
retarded
.
On
the
AADM
scale
,
Cohen
patients
had
high
scores
in
the
positive
domains
,
viz
.
,
self-direction
,
responsibility
and
socialisation
.
Maladaptive
behaviour
,
on
the
other
hand
,
was
almost
completely
absent
,
except
for
stereotyped
behaviours
and
odd
mannerisms
.
Withdrawal
,
sexually
aberrant
behaviour
,
untrustworthy
and
rebellious
behaviour
as
well
as
antisocial
behaviour
were
rare
.
These
findings
are
consistent
with
the
cheerful
and
sociable
disposition
characteristic
of
those
with
Cohen
syndrome
.
Diseases
Validation
Diseases presenting
"which manifested itself by the age of 6 months to 1 year"
symptom
cohen syndrome
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