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Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.
[22q11.2 deletion syndrome]
Chromosome
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
is
a
common
genetic
disorder
with
high
rates
of
psychosis
and
other
psychopathologies
,
but
few
studies
discuss
treatment
.
Our
aim
was
to
characterize
the
prevalence
and
treatment
of
major
psychiatric
illnesses
in
a
well-characterized
sample
of
individuals
with
22
q
11
DS
.
This
was
a
cross-sectional
study
of
112
individuals
aged
8
to
45
years
with
a
confirmed
diagnosis
of
22
q
11
DS
.
Each
participant
was
administered
a
modified
Schedule
for
Affective
Disorders
and
Schizophrenia
for
School
-
Age
Children
(
K-SADS
)
and
the
Structured
Interview
for
Prodromal
Syndromes
(
SIPS
)
.
Phenotypes
assessed
were
threshold
and
subthreshold
psychosis
,
depression
,
mania
,
generalized
and
separation
anxiety
,
obsessions
/
compulsions
,
inattention
/
hyperactivity
and
substance
use
.
Histories
of
mental
health
care
and
current
psychotropic
treatment
were
obtained
.
Psychopathology
was
common
,
with
79
%
of
individuals
meeting
diagnostic
criteria
for
a
disorder
at
the
time
of
assessment
.
Diagnoses
of
psychosis
were
made
in
11
%
of
cases
,
attenuated
positive
symptom
syndrome
(
APS
)
in
21
%
,
and
47
%
experienced
significant
subthreshold
symptoms
.
Peak
occurrence
of
psychosis
risk
was
during
adolescence
(
62
%
of
those
aged
12
-
17
years
)
.
Criteria
for
a
mood
disorder
were
met
by
14
%
,
for
anxiety
disorder
34
%
and
for
attention
deficit
hyperactivity
disorder
(
ADHD
)
31
%
.
Mental
health
care
had
been
received
by
63
%
of
individuals
in
their
lifetime
,
but
only
40
%
continued
therapy
and
39
%
used
psychotropics
.
Antipsychotics
were
used
by
42
%
of
participants
with
psychosis
and
none
of
the
participants
with
APS
.
Half
of
those
at
risk
for
psychosis
were
receiving
no
mental
health
care
.
Psychopathology
is
common
in
22
q
11
DS
but
is
not
adequately
treated
or
clinically
followed
.
Particular
attention
should
be
paid
to
subthreshold
psychotic
symptoms
,
especially
in
adolescents
.
Diseases
Validation
Diseases presenting
"mania"
symptom
22q11.2 deletion syndrome
cadasil
This symptom has already been validated
