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22q11.2 Deletion syndrome and obstructive sleep apnea.
[22q11.2 deletion syndrome]
Otolaryngologic
problems
are
common
in
the
22
q
11
.
2
deletion
syndrome
(
DS
)
population
.
Structural
anomalies
and
retrognathia
may
predispose
these
patients
to
obstructive
sleep
apnea
(
OSA
)
.
The
current
association
of
OSA
in
this
population
is
not
defined
.
(
1
)
Define
the
frequency
of
OSA
in
22
q
11
.
2
DS
patients
referred
for
polysomnography
(
PSG
)
.
(
2
)
Determine
if
OSA
is
present
before
and
/
or
after
surgery
to
correct
velopharyngeal
insufficiency
(
VPI
)
.
(
3
)
Determine
effect
of
prior
adenotonsillectomy
on
OSA
following
VPI
surgery
.
Retrospective
review
of
children
treated
from
2006
to
2013
in
a
tertiary
care
setting
identified
by
ICD-
9
758
.
32
(
velocardiofacial
syndrome
)
and
279
.
11
(
DiGeorge
syndrome
)
.
Surgical
history
and
PSG
data
were
abstracted
from
the
identified
records
.
We
identified
323
patients
with
22
q
11
.
2
DS
;
57
(
18
%
)
were
screened
at
any
point
in
care
using
PSG
and
15
patients
had
PSG
at
multiple
time
points
in
care
.
In
most
cases
,
indication
for
PSG
was
sleep
disordered
breathing
or
pre-operative
planning
.
Overall
,
33
patients
met
criteria
for
OSA
on
PSG
,
accounting
for
10
.
2
%
of
our
study
population
;
however
,
the
percentage
of
patients
with
OSA
was
significantly
higher
within
the
group
of
57
patients
(
58
%
)
who
were
screened
with
PSG
.
Twenty
-
one
of
the
screened
patients
(
54
%
)
had
PSG
prior
to
any
pharyngeal
surgery
and
had
mild
to
severe
OSA
(
obstructive
apnea
/
hypopnea
index
(
AHI
)
:
median
5
.
1
/
h
,
range
1
.
9
-
25
.
6
)
.
Eighteen
patients
had
PSG
after
adenotonsillectomy
;
8
of
these
patients
(
44
%
)
had
mild
to
moderate
OSA
(
median
AHI
2
.
95
/
h
,
range
1
.
9
-
5
.
4
)
.
Seventeen
patients
had
PSG
after
VPI
surgery
(
palatopharyngeal
flap
(
PPF
)
n
=
16
,
sphincteroplasty
n
=
1
)
.
Nine
of
these
patients
(
53
%
)
had
mild
to
severe
OSA
(
median
AHI
3
/
h
,
range
1
.
9
-
15
)
.
Patients
who
underwent
adenotonsillectomy
prior
to
VPI
surgery
had
similar
prevalence
of
OSA
(
50
%
,
n
=
12
)
than
those
who
did
not
(
OSA
:
60
%
,
n
=
5
,
p
=
0
.
70
)
.
Most
children
had
mild
OSA
.
Prevalence
of
OSA
in
this
population
of
22
q
11
.
2
DS
patients
is
higher
than
expected
in
the
general
population
.
OSA
risk
is
highest
after
VPI
surgery
,
and
may
be
decreased
by
adenotonsillectomy
.
Providers
should
have
awareness
of
increased
prevalence
of
OSA
in
patients
with
22
q
11
.
2
DS
.
Close
monitoring
for
OSA
is
warranted
given
the
likelihood
of
subsequent
surgical
intervention
that
can
worsen
OSA
.
Diseases
Validation
Diseases presenting
"velopharyngeal insufficiency"
symptom
22q11.2 deletion syndrome
oligodontia
This symptom has already been validated
