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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
"psychomotor retardation"
symptom
alexander disease
aniridia
canavan disease
cohen syndrome
kabuki syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
pyruvate dehydrogenase deficiency
zellweger syndrome
This symptom has already been validated