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Neuropsychological assessment of a group of UK patients with Cohen syndrome.
[cohen syndrome]
Cohen
syndrome
is
a
rare
autosomal
recessive
syndrome
with
a
distinctive
clinical
phenotype
that
includes
mental
retardation
and
a
characteristic
sociable
disposition
.
Variability
in
the
level
of
learning
disability
and
the
behavioural
phenotype
is
seen
in
the
published
literature
.
In
a
cohort
of
Finnish
Cohen
syndrome
patients
,
severe
mental
retardation
and
non-maladaptive
behaviour
were
described
.
Outside
of
Finland
,
autistic-spectrum
behaviour
has
been
reported
in
a
few
isolated
Cohen
syndrome
patients
but
in
a
recent
UK
study
was
found
to
be
highly
prevalent
.
We
report
the
results
of
neuropsychological
studies
in
a
group
of
16
genetically
heterogeneous
patients
,
all
with
the
characteristic
clinical
features
of
Cohen
syndrome
.
Of
the
9
patients
who
underwent
formal
neuropsychological
testing
,
all
but
one
was
functioning
in
the
severely
mentally
impaired
range
.
Of
the
remaining
patients
,
3
were
below
the
age
of
formal
testing
and
4
had
such
profound
learning
and
behavioural
problems
that
they
were
deemed
unable
to
participate
in
testing
.
Mild
maladaptive
behaviour
was
observed
in
13
patients
and
3
were
documented
as
having
significant
maladaptive
behaviour
.
In
contrast
to
the
Finnish
group
of
Cohen
syndrome
patients
,
this
UK
study
identifies
significant
neuropsychological
impairment
combined
with
maladaptive
behaviour
as
a
characteristic
of
Cohen
syndrome
.
Although
autistic-
type
behaviour
was
observed
,
an
increased
prevalence
of
autism
in
Cohen
syndrome
was
not
confirmed
.
Diseases
Validation
Diseases presenting
"all with the characteristic clinical features of cohen syndrome"
symptom
cohen syndrome
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