While unable to speak, patients can
understand parents and caregivers, paving the way for future
clinical trial design
PHILADELPHIA, June 26,
2024 /PRNewswire/ -- In a landmark study, researchers
from Children's Hospital of Philadelphia (CHOP) found that two separate
objective assessment tools and nonverbal measurements of IQ can
help assess cognitive function in children with Aicardi Goutières
Syndrome (AGS), allowing treatment teams to provide appropriate
support and interventions. The findings were recently published in
the journal Neurology.
AGS is a rare genetic disorder that affects the brain, spinal
cord, and immune system, causing severe neurologic impairment. It
is a type of leukodystrophy, a group of conditions that affect the
white matter of the brain. In AGS, the body's immune system
turns on itself in a destructive way, targeting this white matter,
or myelin. Many children with AGS experience motor and expressive
language deficits, rendering them unable to speak. In patients,
these types of severe intellectual and physical impairments can
create a sense of being "locked in" by their disease and pose
significant challenges for families and clinicians to ascertain
their cognitive function.
Until now, impairment in receptive language – the ability to
understand words that you hear or read – and its level of
impairment in patients with AGS has been nearly impossible to
characterize with most common tools assessing IQ. However, these
new assessments offer the potential to provide critical information
about how these children, and potentially children with other
leukodystrophies, process information.
"Children with AGS understand the world around them after
they lose the ability to talk," said senior study author
Laura Adang, MD, PhD, an attending
physician in the Neuroscience Center at CHOP who specializes in the
care of children with leukodystrophies such as AGS. "We listened to
our families who knew their children understood them, and we knew
IQ tests that required movement were not a fair method for
assessing the cognitive function of these children."
In this study, researchers utilized two different tests to
measure neurologic function. The Leiter International Performance
Scale-3rd edition (Leiter-3), a validated tool to measure
non-verbal cognition that is less dependent on motor skills and
speed, was administered to children with AGS. Parental assessment
of function was captured by the Vineland Adaptive Behavior Scale
(VABS)-3rd edition, which helps measure personal and social skills.
Results of these two assessments were then compared with AGS
Severity Scale scores, a test which captures overall neurologic
abilities.
A total of 57 pediatric patients with AGS were included in the
study. The median IQR Leiter-3 score was 51 among the 37 patients
who were able to complete the assessment. The VABS-3 assessment
found that motor skills were more impacted than communication,
daily living skills and socialization. The researchers noted a
correlation between VABS-3 assessment domains and the results of
the Leiter-3 assessment. Within each gross motor and fine motor
category of the AGS scale, a subset of children scored within a
normal IQ range.
"This is a transformative study that has huge implications on
how anyone providing care, service or education should think
of AGS as a disease," Adang said. "Traditional outcome tests
that don't measure cognition were not giving these children enough
credit. With information like this, we have a better understanding
of how to design future clinical trials in a way that is incredibly
patient-centric."
"As we have improved the way many leukodystrophies are
diagnosed and treated, we are now able to take valuable information
from our patient communities and study these disorders in ways we
could not have envisioned just a few years ago," said study
co-author Adeline Vanderver, MD,
Program Director of the Leukodystrophy Center and Jacob A. Kamens
Endowed Chair in Neurologic Disorders and Translational
Neurotherapeutics at CHOP. "While this study examined just one
leukodystrophy, we believe this method could help us recognize
cognition and intelligence among patients with other
leukodystrophies."
This study was supported by grant funding from the NINDS and
NCATS as well as CURE Pennsylvania grant U01NS106845, U54NS115052,
and K23NS114113.
Gavazzi et al, "Nonverbal Cognitive Skills in Children With
Aicardi Goutières Syndrome." Neurology. Online June 10, 2024. DOI:
10.1212/WNL.0000000000209541.
About Children's Hospital of Philadelphia:
A non-profit, charitable organization, Children's Hospital of
Philadelphia was founded in 1855
as the nation's first pediatric hospital. Through its long-standing
commitment to providing exceptional patient care, training new
generations of pediatric healthcare professionals, and pioneering
major research initiatives, the hospital has fostered many
discoveries that have benefited children worldwide. Its pediatric
research program is among the largest in the country. The
institution has a well-established history of providing advanced
pediatric care close to home through its CHOP Care Network, which
includes more than 50 primary care practices, specialty care and
surgical centers, urgent care centers, and community hospital
alliances throughout Pennsylvania
and New Jersey, as well as the
Middleman Family Pavilion and its dedicated pediatric
emergency department in King of
Prussia. In addition, its unique family-centered care and
public service programs have brought Children's Hospital of
Philadelphia recognition as a
leading advocate for children and adolescents. For more
information, visit https://www.chop.edu.
Contact: Ben Leach
Children's Hospital of Philadelphia
(609) 634-7906
Leachb@email.chop.edu
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SOURCE Children's Hospital of Philadelphia