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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 treatment"
symptom
acute rheumatic fever
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
cowden syndrome
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
omenn syndrome
phenylketonuria
pyomyositis
scrub typhus
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