Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Autistic features in Cohen syndrome: a preliminary report.
[cohen syndrome]
Cohen
syndrome
is
a
rare
,
genetic
,
connective-tissue
disorder
,
with
the
genetic
abnormality
linked
to
chromosome
8
q
22
.
Its
physical
features
(
particular
facial
characteristics
;
body
,
limb
,
and
visual
abnormalities
;
height
and
weight
problems
)
have
been
well
documented
but
little
is
known
about
the
psychological
and
behavioural
development
of
individuals
with
the
condition
.
Suggestion
of
a
dual
diagnosis
of
autism
in
a
small
minority
of
individuals
led
to
a
more
detailed
survey
of
parents
belonging
to
the
Cohen
Syndrome
Support
Group
,
based
in
the
UK
.
Thirty
-
three
individuals
,
18
males
and
15
females
,
aged
from
2
to
45
years
(
mean
age
15
years
)
were
involved
in
the
study
.
Over
half
of
the
participants
(
n
=
19
)
showed
a
pattern
of
impairments
in
social
and
communication
skills
,
together
with
rigid
and
stereotyped
behaviours
or
interests
that
seemed
to
meet
DSM
-IV
/
ICD-
10
criteria
for
autism
.
'
Autistic-
type
'
problems
were
as
common
in
females
as
in
males
.
In
almost
all
cases
,
parents
had
noted
difficulties
in
their
child
before
the
child
reached
the
age
of
1
year
.
This
study
suffers
from
a
number
of
methodological
shortcomings
including
the
fact
that
it
was
a
postal
survey
,
the
sample
size
was
small
,
and
no
standardized
diagnostic
or
psychometric
data
were
available
.
However
,
the
incidence
of
social
,
communication
,
and
behavioural
problems
would
seem
to
warrant
further
research
and
a
larger-scale
study
is
planned
in
association
with
an
independent
investigation
of
physical
and
genetic
characteristics
in
the
same
group
of
individuals
.
Diseases
Validation
Diseases presenting
"particular facial characteristics"
symptom
cohen syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom