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Weighing the evidence for newborn screening for early-infantile Krabbe disease.
[krabbe disease]
To
summarize
the
evidence
regarding
screening
,
diagnosis
,
and
treatment
of
early
-
infantile
Krabbe
disease
in
consideration
of
its
addition
to
the
core
panel
for
newborn
screening
as
has
been
done
in
New
York
state
.
Systematic
review
of
articles
indexed
in
MEDLINE
and
Embase
published
between
January
1988
and
July
2009
.
Thirteen
articles
describing
studies
related
to
screening
,
diagnosis
,
or
treatment
were
included
in
this
review
.
Case
series
studies
suggest
that
allogeneic
hematopoietic
stem-cell
transplantation
soon
after
the
development
of
signs
or
symptoms
of
early
-
infantile
Krabbe
disease
decreases
early
-childhood
mortality
and
may
improve
neurodevelopment
.
However
,
limited
data
suggest
there
may
be
loss
of
motor
function
among
some
children
who
undergo
transplantation
.
No
long
-term
follow-up
data
are
available
from
these
case
series
.
Of
the
∼
550
,
000
newborns
reported
to
have
been
screened
in
New
York
,
25
tested
positive
.
None
of
these
were
clinically
recognized
to
have
Krabbe
disease
prior
these
results
.
Four
were
considered
to
be
high
risk
for
early
-onset
Krabbe
disease
.
Two
were
subsequently
diagnosed
and
underwent
stem-cell
transplantation
,
of
whom
one
died
from
complications
.
No
data
are
available
regarding
the
impact
on
families
of
a
positive
newborn
screen
.
Although
early
treatment
with
hematopoietic
stem-cell
transplant
seems
to
alter
early
-childhood
mortality
and
some
of
the
morbidity
associated
with
early
-
infantile
Krabbe
disease
,
significant
gaps
in
knowledge
exist
regarding
the
accuracy
of
screening
,
the
strategy
for
establishing
diagnosis
,
the
affect
of
a
positive
screen
on
families
,
the
benefits
and
harms
of
treatment
,
and
long
-term
prognosis
.
Diseases
Validation
Diseases presenting
"early-childhood mortality"
symptom
krabbe disease
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