Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Growth and developmental outcomes of infants with hirschsprung disease presenting in the neonatal period: a retrospective study.
[hirschsprung disease]
To
describe
the
presentation
and
progress
over
the
first
year
of
life
of
neonates
with
Hirschsprung
disease
,
to
describe
their
physical
and
developmental
outcomes
at
12
months
of
age
,
and
to
compare
the
outcomes
of
infants
with
short
-
vs
long
-segment
Hirschsprung
disease
.
A
retrospective
study
of
neonates
born
with
Hirschsprung
disease
in
Western
Australia
between
January
1
,
2001
,
and
December
31
,
2010
,
to
review
their
presentation
,
progress
,
growth
,
and
development
at
12
months
of
age
.
Fifty
-
four
infants
were
identified
(
40
with
short
and
11
with
long
segment
and
3
with
total
colonic
aganglionosis
)
;
9
infants
had
a
recognized
syndrome
and
1
infant
died
,
unrelated
to
Hirschsprung
disease
.
A
primary
pull-through
procedure
was
performed
in
97
%
and
21
%
of
neonates
with
short
-
and
non-
short
-segment
Hirschsprung
disease
,
respectively
;
17
(
31
%
)
infants
developed
anal
stenosis
requiring
dilatations
.
Enterocolitis
occurred
in
14
(
26
%
)
infants
.
Griffiths
Mental
Development
Scale
scores
(
1
year
)
were
available
in
31
of
45
nonsyndromic
survivors
:
mean
general
quotient
(
94
.
2
,
SD
8
.
89
)
was
significantly
less
than
the
population
mean
(
P
=
.
007
)
,
but
the
number
of
infants
with
developmental
delay
was
within
the
expected
range
.
Physical
growth
,
except
length
,
appeared
adequate
in
nonsyndromic
infants
.
There
were
no
significant
differences
in
the
outcomes
of
infants
with
short
-
vs
non-
short
-segment
Hirschsprung
disease
.
At
1
year
of
age
,
many
infants
with
Hirschsprung
disease
have
ongoing
gastrointestinal
problems
.
Their
overall
growth
appears
satisfactory
,
and
most
infants
are
developing
normally
;
however
,
their
mean
general
quotient
appears
shifted
to
the
left
.
Longer-term
studies
will
better
define
developmental
outcomes
.
Diseases
Validation
Diseases presenting
"anal stenosis"
symptom
hirschsprung disease
kindler syndrome
This symptom has already been validated