SSRN Electronic Journal,
Год журнала:
2022,
Номер
unknown
Опубликована: Янв. 1, 2022
Background:
Rare
genetic
variations
have
been
revealed
to
contribute
the
heterogeneity
of
autism
spectrum
disorder
(ASD)
and
heterogeneous
responses
various
interventions
in
ASD
patients.
However,
potential
clinical
application
rare
intervention
remains
poorly
investigated.Methods:
Using
publicly
available
de
novo
mutations
(DNMs),
inherited
variants,
copy
number
(CNVs)
from
9,902,
3,572,
21,598
individuals,
respectively,
including
probands
normal
controls,
we
estimated
association
between
each
type
410
vitamin
A
(VA)-related
genes
(VARGs)
andASD
aetiology.
Additionally,
compared
similarities
differences
VA
oxytocin
with
respect
aetiology
using
same
dataset.
Findings:
Functional
DNMs
pathogenic
CNVs
VARGs
were
found
significantly
pathogenesis.
a
combined
model,
324
VA-related
biomarkers
identified
~8%
Comparing
them
458
previously
oxytocin-related
biomarkers,
243
shared,
81
VA-only,
215
oxytocin-only
revealed,
affecting
~7%,
~1%,
~3%
patients,
respectively.
Moreover,
convergent
divergent
functions
such
as
MAPK3
beingassociated
both
oxytocin,
whereas
UBE3A
SHANK3
exclusively
associated
Interpretation:
Our
findings
provide
basis
for
future
studies
aimed
at
understanding
pathophysiological
mechanisms
underlying
ASD,
set
molecular
VA-,
oxytocin-,
or
combination-based
treatments.Funding
Information:
This
work
was
supported
by
Guangdong
Key
Project
"Early
diagnosis
treatment
disorders"
(#202007030002
ZSS),
"Development
new
tools
Autism"
(#2018B030335001
National
Natural
Science
Foundation
China
(#31871191
Strategic
Priority
Research
Program
Chinese
Academy
Sciences
(XDPB16
Technology
Major
Hunan
Provincial
Department
(#2021SK1010
Kun
Xia),National
(#82130043
#81730036
Xia).Declaration
Interests:
We
declare
no
competing
interests.
Multidisciplinary Journal of Educational Research,
Год журнала:
2023,
Номер
13(1)
Опубликована: Фев. 15, 2023
Este
trabajo
se
propuso
estudiar
el
nivel
de
conocimientos
sobre
Trastorno
del
Espectro
Autismo
(TEA)
que
poseen
51
maestros.
Se
empleó
Autism
Knowledge
Questionnarie
(AKQ)
como
instrumento
para
evaluar
conocimiento
TEA.
obtuvo
un
5.9
%,
47.1
%
y
los
participantes
presentaron,
respectivamente,
débil,
aceptable
bueno.
Las
carencias
asociaron
con
la
comorbilidad,
las
características
TEA
efectos
medicación.
Los
resultados
ANOVAS
evidenciaron
puntuaciones
medias
en
AKQ
no
difirieron
significativamente
función
género,
formación
universitaria,
años
experiencia
docente
tipo
centro.
Respecto
al
perfil
profesional
actual,
maestros
Educación
Especial
o
Audición
Lenguaje
obtuvieron
más
elevadas
Primaria
(d
=
6.41).
Del
mismo
modo,
aquellos
profesionales
habían
tenido
contacto
personas
presentaban
considerablemente
alto
7.62).
En
conclusión,
es
necesaria
una
reconceptualización
donde
prime
alumnado
enriquecer
su
y,
así,
llevar
a
cabo
Inclusiva.
Computational and Structural Biotechnology Journal,
Год журнала:
2023,
Номер
21, С. 3109 - 3123
Опубликована: Янв. 1, 2023
Rare
genetic
variations
contribute
to
the
heterogeneity
of
autism
spectrum
disorder
(ASD)
and
responses
various
interventions
for
ASD
probands.
However,
associated
molecular
underpinnings
remain
unclear.
Herein,
we
estimated
association
between
rare
in
410
vitamin
A
(VA)-related
genes
(VARGs)
aetiology
using
publicly
available
de
novo
mutations
(DNMs),
inherited
variants,
copy
number
(CNVs)
from
about
50,000
probands
20,000
normal
controls
(discovery
validation
cohorts).
Additionally,
given
functional
relevance
VA
oxytocin,
systematically
compared
similarities
differences
oxytocin
with
respect
evaluated
their
potential
clinical
applications.
Functional
DNMs
pathogenic
CNVs
VARGs
contributed
pathogenesis
discovery
cohorts.
324
VA-related
biomarkers
were
identified,
243
which
shared
previously
identified
oxytocin-related
biomarkers,
while
81
unique
biomarkers.
Moreover,
multivariable
logistic
regression
analysis
revealed
that
both
VA-
able
predict
individuals
carrying
DNM
corresponding
an
average
precision
0.94.
As
well
as,
convergent
divergent
functions
also
The
findings
this
study
provide
a
basis
future
studies
aimed
at
understanding
pathophysiological
mechanisms
underlying
defining
set
adjuvant
diagnosis
intervention
ASD.
Research Square (Research Square),
Год журнала:
2023,
Номер
unknown
Опубликована: Окт. 3, 2023
Abstract
Autistic
individuals
generally
demonstrate
impaired
emotion
recognition
but
it
is
unclear
whether
effects
are
emotion-specific
or
influenced
by
oxytocin
receptor
(OXTR)
genotype.
Here
we
implemented
a
dimensional
approach
using
an
implicit
task
together
with
functional
MRI
in
large
cohort
of
subjects
(N
=
255)
to
establish
associations
between
autistic
traits
and
neural
behavioral
responses
specific
face
emotions,
modulatory
OXTR
A
searchlight-based
multivariate
pattern
analysis
(MVPA)
revealed
extensive
network
frontal,
basal
ganglia,
cingulate
limbic
regions
exhibiting
significant
predictability
for
from
patterns
angry
relative
neutral
expression
faces.
Functional
connectivity
analyses
genotype
interaction
(rs2254298,
rs2268491)
coupling
the
orbitofrontal
cortex
mid-cingulate
during
processing,
negative
association
risk-allele
group
positive
one
non-risk
allele
group.
Overall,
results
indicate
primarily
faces
processing
motivation,
reward
salience
not
early
visual
processing.
connections
these
identified
were
only
associated
also
Thus,
altered
threatening
may
be
potential
biomarker
symptoms
although
influences
need
taken
into
account.
SSRN Electronic Journal,
Год журнала:
2022,
Номер
unknown
Опубликована: Янв. 1, 2022
Background:
Rare
genetic
variations
have
been
revealed
to
contribute
the
heterogeneity
of
autism
spectrum
disorder
(ASD)
and
heterogeneous
responses
various
interventions
in
ASD
patients.
However,
potential
clinical
application
rare
intervention
remains
poorly
investigated.Methods:
Using
publicly
available
de
novo
mutations
(DNMs),
inherited
variants,
copy
number
(CNVs)
from
9,902,
3,572,
21,598
individuals,
respectively,
including
probands
normal
controls,
we
estimated
association
between
each
type
410
vitamin
A
(VA)-related
genes
(VARGs)
andASD
aetiology.
Additionally,
compared
similarities
differences
VA
oxytocin
with
respect
aetiology
using
same
dataset.
Findings:
Functional
DNMs
pathogenic
CNVs
VARGs
were
found
significantly
pathogenesis.
a
combined
model,
324
VA-related
biomarkers
identified
~8%
Comparing
them
458
previously
oxytocin-related
biomarkers,
243
shared,
81
VA-only,
215
oxytocin-only
revealed,
affecting
~7%,
~1%,
~3%
patients,
respectively.
Moreover,
convergent
divergent
functions
such
as
MAPK3
beingassociated
both
oxytocin,
whereas
UBE3A
SHANK3
exclusively
associated
Interpretation:
Our
findings
provide
basis
for
future
studies
aimed
at
understanding
pathophysiological
mechanisms
underlying
ASD,
set
molecular
VA-,
oxytocin-,
or
combination-based
treatments.Funding
Information:
This
work
was
supported
by
Guangdong
Key
Project
"Early
diagnosis
treatment
disorders"
(#202007030002
ZSS),
"Development
new
tools
Autism"
(#2018B030335001
National
Natural
Science
Foundation
China
(#31871191
Strategic
Priority
Research
Program
Chinese
Academy
Sciences
(XDPB16
Technology
Major
Hunan
Provincial
Department
(#2021SK1010
Kun
Xia),National
(#82130043
#81730036
Xia).Declaration
Interests:
We
declare
no
competing
interests.