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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
"depression"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
aromatase deficiency
cadasil
child syndrome
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dracunculiasis
fabry disease
familial hypocalciuric hypercalcemia
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
krabbe disease
locked-in syndrome
malignant atrophic papulosis
oligodontia
oral submucous fibrosis
phenylketonuria
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
This symptom has already been validated
