24-h continuous non-invasive multiparameter home monitoring of vitals in patients with Rett syndrome by an innovative wearable technology: evidence of an overlooked chronic fatigue status
Frontiers in Neurology,
Год журнала:
2024,
Номер
15
Опубликована: Июнь 17, 2024
Background
Sleep
is
disturbed
in
Rett
syndrome
(RTT),
a
rare
and
progressive
neurodevelopmental
disorder
primarily
affecting
female
patients
(prevalence
7.1/100,000
patients)
linked
to
pathogenic
variations
the
X-linked
methyl-CpG-binding
protein
2
(
MECP2
)
gene.
Autonomic
nervous
system
dysfunction
with
predominance
of
sympathetic
(SNS)
over
parasympathetic
(PSNS)
reported
RTT,
along
exercise
fatigue
increased
sudden
death
risk.
The
aim
present
study
was
test
feasibility
continuous
24
h
non-invasive
home
monitoring
biological
vitals
(biovitals)
by
an
innovative
wearable
sensor
device
pediatric
adolescent/adult
RTT
patients.
Methods
A
total
10
(mean
age
18.3
±
9.4
years,
range
4.7–35.5
years)
typical
were
enrolled.
Clinical
severity
assessed
validated
scales.
Heart
rate
(HR),
respiratory
(RR),
skin
temperature
(SkT)
monitored
YouCare
Wearable
Medical
Device
(Accyourate
Group
SpA,
L’Aquila,
Italy).
average
percentage
maximum
HR
(HRmax%)
calculated.
variability
(HRV)
expressed
consolidated
time-domain
frequency-domain
parameters.
HR/LF
(low
frequency)
ratio,
indicating
SNS
activation
under
dynamic
exercise,
Simultaneous
measurement
indoor
air
quality
variables
performed
patients’
contributions
surrounding
water
vapor
partial
pressure
[P
H2O
(pt)]
carbon
dioxide
CO2
indirectly
estimated.
Results
Of
6,559.79
biovital
recordings,
5051.03
(77%)
valid
for
data
interpretation.
wake
hours
9.0
1.1
14.9
h,
respectively.
HRmax
%
[median:
71.86%
(interquartile
61.03–82%)]
3.75
3.19–5.05)]
elevated,
independent
from
wake–sleep
cycle.
majority
HRV
time-
parameters
significantly
higher
p
≤
0.031).
ratio
associated
phenotype
severity,
disease
progression,
clinical
sleep
disorder,
subclinical
hypoxia,
electroencephalographic
observations
multifocal
epileptic
activity
general
background
slowing.
Conclusion
Our
findings
indicate
24-h
RTT.
Moreover,
first
time,
HRmax%
identified
as
potential
objective
markers
fatigue,
illness
progression.
Язык: Английский
Autism spectrum disorder and various mechanisms behind it
Pharmacology Biochemistry and Behavior,
Год журнала:
2024,
Номер
245, С. 173887 - 173887
Опубликована: Окт. 6, 2024
Язык: Английский
Exploring the complexity of MECP2 function in Rett syndrome
Nature reviews. Neuroscience,
Год журнала:
2025,
Номер
unknown
Опубликована: Май 13, 2025
Язык: Английский
Rett Syndrome: Thinking Beyond Brain Borders
Advances in experimental medicine and biology,
Год журнала:
2025,
Номер
unknown, С. 243 - 263
Опубликована: Янв. 1, 2025
Язык: Английский
The power of human stem cell-based systems in the study of neurodevelopmental disorders
Current Opinion in Neurobiology,
Год журнала:
2024,
Номер
89, С. 102916 - 102916
Опубликована: Сен. 17, 2024
Язык: Английский
Profile of Trofinetide in the Treatment of Rett Syndrome: Design, Development and Potential Place in Therapy
Drug Design Development and Therapy,
Год журнала:
2024,
Номер
Volume 18, С. 5023 - 5040
Опубликована: Ноя. 1, 2024
Trofinetide
is
a
first-in-class
pharmacological
treatment
proposed
for
patients
with
Rett
Syndrome.
It
long
half-life
derivative
of
glycine-proline-glutamate,
the
tripeptide
normally
excided
from
Insulin-like
Growth
Factor
1
upon
degradation.
Due
to
containing
glutamate
and
glycine
in
its
structure,
trofinetide
thought
act
through
NMDA
receptor
modulation,
thus
providing
normalization
neuronal
activity
survival.
was
tested
series
short
long-term
trials,
showing
good
efficacy
at
improving
scores
on
Clinical
Global
Impression-Improvement
scale
Syndrome
Behavior
Questionnaire,
specific
effect
only
some
subscales,
ie
General
Mood
subscale
Repetitive
Face
Movement
subscale.
No
effects
were
documented
other
subscales
or
epilepsy,
heart
bone
-related
symptoms.
The
main
adverse
trofinetide,
severe
enough
determine
discontinuation,
include
diarrhea,
vomiting,
consequent
weight
loss.
These
may
be
scarcely
avoidable,
given
need
assume
very
large
amount
per
day.
Other
inherent
limitations
use
possibly
regard
limited
duration
drug
supplies,
as
one
bottle
last
three
days
only,
depending
weight,
relatively
high
cost
bottle.
has
no
direct
competitors:
single
symptoms
Syndrome,
instance,
seizures
aggressive
behaviors,
are
currently
treated
drugs
that
have
been
developed
without
This
leads
suboptimal
increased
risk
effects.
place
therapy
yet
determined,
based
results
clinical
practical
usability,
windows
opportunity
intervention.
Moreover,
curative
if
early
during
brain
development,
merely
symptomatic
young
adults,
data
exist
this
aspect.
will
require
reassessment
after
competing
treatments
enter
market.
Язык: Английский
The Pathogenesis and Treatment Methods for Rett Syndrome
MedScien,
Год журнала:
2024,
Номер
1(6)
Опубликована: Апрель 16, 2024
Rett
Syndrome
is
a
neurological
condition
primarily
affecting
women.
Its
symptoms
include
decreased
brain
size,
inability
to
speak,
and
coordination
problems.
Several
gene
mutations
have
been
discovered
play
role
in
this
disease,
with
the
MeCP2
mutation
being
most
widely
known
frequent
cause.
Scientists
are
also
attempting
create
medicines
targeting
genetic
that
may
provide
cure.
However,
mechanism
behind
how
affects
human
on
molecular
level
remains
be
discovered.
This
article
summarises
important
findings
regarding
causes
treatments
of
Syndrome.
It
compares
current
methods
treat
including
DAYBUE,
newly
FDA-approved
medicine
only
targets
Future
studies
could
revolve
around
root
Syndrome,
such
as
lack
neurons,
attempt
solve
problem
fundamentally.
The
significant
for
humans
advance
finding
cure
disease.
Язык: Английский