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Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.
[22q11.2 deletion syndrome]
The
commonest
autosomal
deletion
,
22
q
11
.
2
deletion
syndrome
(
22
q
11
DS
)
is
a
multisystem
disorder
varying
greatly
in
severity
and
age
of
identification
between
affected
individuals
.
Holistic
care
is
best
served
by
a
multidisciplinary
team
,
with
an
anticipatory
approach
.
Priorities
tend
to
change
with
age
,
from
feeding
difficulties
,
infections
and
surgery
of
congenital
abnormalities
particularly
of
the
heart
and
velopharynx
in
infancy
and
early
childhood
to
longer-term
communication
,
learning
,
behavioural
and
mental
health
difficulties
best
served
by
evaluation
at
intervals
to
consider
and
initiate
management
.
Regular
monitoring
of
growth
,
endocrine
status
,
haematological
and
immune
function
to
enable
early
intervention
helps
in
maintaining
health
.
Guidelines
to
best
practice
management
of
22
q
11
DS
based
on
a
literature
review
and
consensus
have
been
developed
by
a
national
group
of
professionals
with
consideration
of
the
limitations
of
available
medical
and
educational
resources
.
Diseases
Validation
Diseases presenting
"feeding difficulties"
symptom
22q11.2 deletion syndrome
homocystinuria without methylmalonic aciduria
kabuki syndrome
wolf-hirschhorn syndrome
This symptom has already been validated
