The Journal of Maternal-Fetal & Neonatal Medicine,
Journal Year:
2020,
Volume and Issue:
35(7), P. 1386 - 1391
Published: April 26, 2020
Childbirth
has
always
carried
traumatic
stress
to
the
woman’s
body.
To
deliver
with
less
perineal
trauma,
obstetricians
have
used
episiotomies.
Episiotomy
is
still
a
common
practice
despite
controversy
regarding
its
use.
Weighing
risks
and
benefits,
scientific
literature
supports
selective
With
worldwide
trend
reduce
rate
of
episiotomy,
several
techniques
been
proposed
achieve
that.
However,
further
research
needed
prove
their
efficacy.
This
review
will
shed
light
on
historical
background
different
techniques,
indications,
future
practice.
The Lancet Global Health,
Journal Year:
2018,
Volume and Issue:
6(10), P. e1100 - e1121
Published: Aug. 29, 2018
BackgroundThe
Sustainable
Development
Goals
(SDGs)
mandate
systematic
monitoring
of
the
health
and
wellbeing
all
children
to
achieve
optimal
early
childhood
development.
However,
global
epidemiological
data
on
with
developmental
disabilities
are
scarce.
The
Global
Burden
Diseases,
Injuries,
Risk
Factors
Study
2016
provides
a
comprehensive
assessment
prevalence
years
lived
disability
(YLDs)
for
development
among
younger
than
5
in
195
countries
territories
from
1990
2016.MethodsWe
estimated
YLDs
epilepsy,
intellectual
disability,
hearing
loss,
vision
autism
spectrum
disorder,
attention
deficit
hyperactivity
disorder.
were
as
product
estimate
weight
each
mutually
exclusive
corrected
comorbidity.
We
used
DisMod-MR
2.1,
Bayesian
meta-regression
tool,
pool
primary
derived
reviews
literature,
surveys,
hospital
claims
databases,
cohort
studies,
disease-specific
registries.FindingsGlobally,
52·9
million
(95%
uncertainty
interval
[UI]
48·7–57·3;
or
8·4%
[7·7–9·1])
(54%
males)
had
compared
53·0
(49·0–57·1;
8·9%
[8·2–9·5])
1990.
About
95%
these
low-income
middle-income
countries.
increased
3·8
UI
2·8–4·9)
3·9
(2·9–5·2)
2016.
These
accounted
13·3%
29·3
conditions
Vision
loss
was
most
prevalent
followed
by
largest
contributor
both
Although
decreased
(except
North
America)
between
2016,
number
significantly
sub-Saharan
Africa
(71·3%)
Middle
East
(7·6%).
South
Asia
highest
America
lowest.InterpretationThe
burden
has
not
improved
since
1990,
suggesting
inadequate
potential
who
survived
result
child
survival
programmes,
particularly
south
Asia.
SDGs
provide
framework
policy
action
address
needs
at
risk
disabilities,
resource-poor
countries.FundingThe
Bill
&
Melinda
Gates
Foundation.
Translational Pediatrics,
Journal Year:
2020,
Volume and Issue:
9(S1), P. S125 - S135
Published: Feb. 1, 2020
Abstract:
Cerebral
palsy
(CP)
is
a
disorder
characterized
by
abnormal
tone,
posture
and
movement
clinically
classified
based
on
the
predominant
motor
syndrome—spastic
hemiplegia,
spastic
diplegia,
quadriplegia,
extrapyramidal
or
dyskinetic.
The
incidence
of
CP
2–3
per
1,000
live
births.
Prematurity
low
birthweight
are
important
risk
factors
for
CP;
however,
multiple
other
have
been
associated
with
an
increased
CP,
including
maternal
infections,
gestation.
In
most
cases
initial
injury
to
brain
occurs
during
early
fetal
development;
intracerebral
hemorrhage
periventricular
leukomalacia
main
pathologic
findings
found
in
preterm
infants
who
develop
CP.
diagnosis
primarily
clinical
findings.
Early
possible
combination
history,
use
standardized
neuromotor
assessment
magnetic
resonance
imaging
(MRI);
settings
more
reliably
recognized
2
years
age.
MRI
scan
indicated
delineate
extent
lesions
identify
congenital
malformations.
Genetic
tests
inborn
errors
metabolism
specific
disorders.
Because
secondary
medical
conditions,
its
management
requires
multidisciplinary
team
approach.
Most
children
grow
up
be
productive
adults.
JAMA Pediatrics,
Journal Year:
2023,
Volume and Issue:
177(5), P. 472 - 472
Published: March 6, 2023
Importance
Exome
sequencing
is
a
first-tier
diagnostic
test
for
individuals
with
neurodevelopmental
disorders,
including
intellectual
disability/developmental
delay
and
autism
spectrum
disorder;
however,
this
recommendation
does
not
include
cerebral
palsy.
Objective
To
evaluate
if
the
yield
of
exome
or
genome
in
palsy
similar
to
that
other
disorders.
Data
Sources
The
study
team
searched
PubMed
studies
published
between
2013
2022
using
genetic
testing
terms.
were
analyzed
during
March
2022.
Study
Selection
Studies
performing
at
least
10
participants
included.
fewer
than
reporting
variants
detected
by
tests
excluded.
Consensus
review
was
performed.
initial
search
identified
148
studies,
which
13
met
inclusion
criteria.
Extraction
Synthesis
extracted
2
investigators
pooled
random-effects
meta-analysis.
Incidence
rates
corresponding
95%
CIs
prediction
intervals
calculated.
Publication
bias
evaluated
Egger
test.
Variability
included
assessed
via
heterogeneity
I
statistic.
Main
Outcomes
Measures
primary
outcome
(rate
pathogenic/likely
pathogenic
variants)
across
studies.
Subgroup
analyses
performed
based
on
population
age
use
exclusion
criteria
patient
selection.
Results
Thirteen
consisting
2612
overall
31.1%
(95%
CI,
24.2%-38.6%;
=
91%).
higher
pediatric
populations
(34.8%;
28.3%-41.5%)
adult
(26.9%;
1.2%-68.8%)
among
used
selection
(42.1%;
36.0%-48.2%)
those
did
(20.7%;
12.3%-30.5%).
Conclusions
Relevance
In
systematic
meta-analysis,
disorders
recommended
as
standard
care.
from
meta-analysis
provide
evidence
support
current
evaluation
Developmental Medicine & Child Neurology,
Journal Year:
2018,
Volume and Issue:
61(5), P. 601 - 609
Published: Nov. 5, 2018
Aim
To
examine
the
prevalence,
clinical
characteristics,
and
risk
factors
of
cerebral
palsy
(CP)
in
children
Bangladesh.
Method
The
Bangladesh
CP
Register
is
an
ongoing
population‐based
surveillance
database
with
from
a
geographically
defined
area
Cases
were
based
on
Surveillance
Europe
Australian
criteria
after
assessments
identification
by
key
informant's
method.
Results
In
total,
726
identified
between
January
2015
December
2016.
Mean
age
was
7
years
months
(standard
deviation
[SD]
4y
6mo;
range:
4.8mo–18y;
median
7y
1.2mo;
61.8%
male,
38.2%
female).
at
diagnosis
5
2
(SD
3.8).
Observed
prevalence
3.4
per
1000
(95%
confidence
interval
[CI]:
3.2–3.7),
resulting
estimated
233
514
CI:
219
778–254
118)
majority
(79.6%)
had
spastic
CP.
Altogether,
79.6%
least
one
associated
impairment
(speech
67.6%,
intellectual
39.0%,
epilepsy
23.7%,
visual
10.2%,
hearing
10.2%).
78.2%
never
received
rehabilitation.
Interpretation
Bangladesh,
burden
high,
substantially
delayed,
limiting
opportunities
for
early
intervention.
There
lack
available
services
preventable
factors.
What
this
paper
adds
Prevalence
rural
are
have
potentially
Diagnosis
JAMA,
Journal Year:
2021,
Volume and Issue:
325(5), P. 467 - 467
Published: Feb. 2, 2021
Cerebral
palsy
is
a
common
neurodevelopmental
disorder
affecting
movement
and
posture
that
often
co-occurs
with
other
disorders.
Individual
cases
of
cerebral
are
attributed
to
birth
asphyxia;
however,
recent
studies
indicate
asphyxia
accounts
for
less
than
10%
cases.To
determine
the
molecular
diagnostic
yield
exome
sequencing
(prevalence
pathogenic
likely
variants)
in
individuals
palsy.A
retrospective
cohort
study
patients
included
clinical
laboratory
referral
data
accrued
between
2012
2018
health
care-based
2007
2017.Exome
copy
number
variant
detection.The
primary
outcome
was
sequencing.Among
1345
from
cohort,
median
age
8.8
years
(interquartile
range,
4.4-14.7
years;
0.1-66
years)
601
(45%)
were
female.
Among
181
41.9
28.0-59.6
4.8-89
96
(53%)
The
32.7%
(95%
CI,
30.2%-35.2%)
10.5%
6.0%-15.0%)
cohort.
ranged
11.2%
6.4%-16.2%)
without
intellectual
disability,
epilepsy,
or
autism
spectrum
32.9%
25.7%-40.1%)
all
3
comorbidities.
Pathogenic
variants
identified
229
genes
(29.5%
1526
patients);
86
mutated
2
more
(20.1%
patients)
10
mutations
independently
both
cohorts
(2.9%
patients).Among
who
underwent
sequencing,
prevalence
predominantly
consisted
pediatric
adult
patients.
Further
research
needed
understand
implications
these
findings.
Brain,
Journal Year:
2021,
Volume and Issue:
145(1), P. 119 - 141
Published: June 1, 2021
Abstract
Cerebral
palsy
is
the
most
prevalent
physical
disability
in
children;
however,
its
inherent
molecular
mechanisms
remain
unclear.
In
present
study,
we
performed
in-depth
clinical
and
analysis
on
120
idiopathic
cerebral
families,
identified
underlying
detrimental
genetic
variants
45%
of
these
patients.
addition
to
germline
variants,
found
disease-related
postzygotic
mutations
∼6.7%
We
that
patients
with
more
severe
motor
impairments
or
a
comorbidity
intellectual
had
significantly
higher
chance
harbouring
variants.
By
compilation
114
known
cerebral-palsy-related
genes,
characteristic
features
terms
inheritance
function,
from
which
proposed
dichotomous
classification
system
according
expression
patterns
genes
associated
cognitive
impairments.
two
both
disability,
revealed
defective
TYW1,
tRNA
hypermodification
enzyme,
caused
primary
microcephaly
problems
motion
cognition
by
hindering
neuronal
proliferation
migration.
Furthermore,
developed
an
algorithm
demonstrated
mouse
brains
this
malfunctioning
specifically
perturbed
translation
subset
proteins
involved
cell
cycling.
This
finding
provided
novel
interesting
mechanism
for
congenital
microcephaly.
another
patient
normal
intelligence,
mitochondrial
enzyme
GPAM,
hypomorphic
form
led
hypomyelination
corticospinal
tract
human
models.
addition,
confirmed
aberrant
Gpam
mice
lipid
metabolism
astrocytes,
resulting
suppressed
astrocytic
shortage
contents
supplied
oligodendrocytic
myelination.
Taken
together,
our
findings
elucidate
aspects
aetiology
provide
insights
future
therapeutic
strategies.