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Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique.
[krabbe disease]
To
assess
the
utility
of
a
telephone
-based
interview
system
in
providing
ongoing
monitoring
of
the
developmental
and
functional
status
of
children
with
both
positive
newborn
screens
for
Krabbe
disease
and
low
galactocerebrosidase
activity
on
confirmatory
testing
,
and
to
determine
whether
this
approach
provides
improved
compliance
with
follow-up
compared
with
formal
neuropsychological
testing
.
Infants
with
low
galactocerebrosidase
activity
(
as
detected
by
the
New
York
State
newborn
screening
program
)
were
eligible
for
this
longitudinal
prospective
cohort
study
.
Consenting
families
were
interviewed
by
telephone
at
infant
ages
of
4
,
8
,
12
,
18
,
and
24
months
.
Designated
instruments
were
the
Ages
and
Stages
Questionnaires
,
the
Clinical
Linguistic
and
Auditory
Milestone
Scale
,
the
Gross
Motor
Quotient
,
the
Warner
Initial
Developmental
Evaluation
of
Adaptive
and
Functional
Skills
50
,
and
the
WeeFIM
II
0
-
3
instrument
.
Assessments
with
the
Bayley
Scales
of
Infant
and
Toddler
Development
,
Third
Edition
(
Bayley
III
)
were
scheduled
at
age
12
and
24
months
.
Seventeen
patients
were
enrolled
;
16
were
assessed
at
age
12
and
18
months
,
and
15
were
assessed
at
age
24
months
.
Scores
were
within
the
normal
range
on
all
tests
of
developmental
and
functional
status
,
with
the
exception
of
expressive
language
.
Only
7
patients
completed
the
Bayley
Scales
of
Infant
and
Toddler
Development
,
Third
Edition
assessments
;
all
their
scores
were
in
the
normal
range
.
This
telephone
-based
technique
allows
close
monitoring
of
the
developmental
and
functional
status
of
children
with
a
positive
newborn
screen
for
this
neurometabolic
disease
,
with
special
attention
to
detecting
plateauing
or
regression
of
developmental
milestones
.
Compliance
is
improved
compared
with
formal
neuropsychological
testing
.
Diseases
Validation
Diseases presenting
"formal neuropsychological testing"
symptom
cohen syndrome
krabbe disease
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