Evidence map›Paper›PMID 39319594›Full record

ReviewAnnals of neurology2024

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.

Siddharth Srivastava, Jordan J Cole, Julie S Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A Deardorff, Ernest Pedapati, Brian Corner, Julia S Anixt, Shafali Jeste and 4 more

Abstract readReview
In one paragraph

Review in Annals of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Review
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Siddharth Srivastava *Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-7008-1879
Jordan J Cole *Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.ORCID 0000-0002-7090-6399
Julie S CohenDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
Maya ChopraDepartment of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Hadley Stevens SmithDepartment of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Matthew A DeardorffDepartments of Pathology and Pediatrics, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Ernest PedapatiDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital, Cincinnati, OH, USA.
Brian CornerDepartment of Pediatrics and Genetics, Vanderbilt University Medical Center, Nashville, TN, USA.
Julia S AnixtDepartment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital, Cincinnati, OH, USA.
Shafali JesteDepartment of Neurology, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Mustafa SahinDepartment of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.ORCID 0000-0001-7044-2953
Christina A GurnettDepartment of Neurology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Colleen A CampbellDepartment of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, IA, USA.
Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing

Funding

WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8M
Washington University Institute of Clinical and Translational SciencesUL1TR000448 · NCATS · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2012 to 2016
$41.4M
Child Neurologist Career Development Program (CNCDP)K12NS098482 · NINDS · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI SCHLAGGAR, BRADLEY L · 2016 to 2025
$26.2M
Toward better characterization and clinical trial readiness for targeting neuropsychiatric manifestations in PTEN pathogenic variantsU54NS092090 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI M. Pilar Trelles · 2014 to 2026
$20.1M
WUIDDRC Supplement-Supporting the health and well-being of children with intellectual and developmental disability during COVID-19 pandemicP50HD103525 · NICHD · WASHINGTON UNIVERSITY · PI JEFFREY D MILBRANDT · 2020 to 2026
$15.5M
4/6 HBCD Prenatal Experiences and Longitudinal Development (PRELUDE) ConsortiumU01DA055342 · NIDA · CINCINNATI CHILDRENS HOSP MED CTR · PI STEPHANIE L MERHAR, JENNIFER J. VANNEST · 2021 to 2026
$11.9M
Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at VanderbiltP50HD103537 · NICHD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Lea K Davis · 2020 to 2026
$10.3M
Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI S. Ali Fatemi, Bradley L Schlaggar · 2020 to 2026
$9.9M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
University of Iowa Hawkeye Intellectual and Developmental Disabilities Research Center (Hawk-IDDRC)P50HD103556 · NICHD · UNIVERSITY OF IOWA · PI Lane Strathearn · 2021 to 2026
$8.5M
Translational medicine and mechanistic studies of brain neurophysiology in Fragile X SyndromeU54HD104461 · NICHD · CINCINNATI CHILDRENS HOSP MED CTR · PI HUBER, KIMBERLY M. · 2020 to 2024
$8.1M
Genetic Risk Factors for Severe ScoliosisR01AR067715 · NIAMS · WASHINGTON UNIVERSITY · PI DOBBS, MATTHEW BARRETT, GURNETT, CHRISTINA · 2015 to 2024
$6.0M
ACL HHS U01CE003570CDC HHS U01-CE003570Eunice Kennedy Shriver National Institute of Child Health and Human Development R21HD101977HRSA HHS HRSA-22-134National Institute of Child Health and Human Development P50HD105351National Institute of Child Health and Human Development U54-HD104461NCATS NIH HHS U54NS092090NCATS NIH HHS UL1 TR000448NCATS NIH HHS UL1 TR002345NCIPC CDC HHS U01 CE003570NHGRI NIH HHS R00 HG011491NHGRI NIH HHS R00HG011491NHGRI NIH HHS R21 HG012626NHGRI NIH HHS R21HG012626NIAMS NIH HHS R01 AR067715NICHD NIH HHS P50 HD103525NICHD NIH HHS P50 HD103537NICHD NIH HHS P50 HD103538NICHD NIH HHS P50 HD103556NICHD NIH HHS P50 HD105351NICHD NIH HHS R01 HD108222NICHD NIH HHS R21 HD101977NICHD NIH HHS U54 HD104461NIDA NIH HHS U01 DA055342NIMH NIH HHS R01-HD108222NIMH NIH HHS U01-DA055342NINDS NIH HHS 1K23NS119666NINDS NIH HHS 1U24NS131172-01NINDS NIH HHS K12 NS098482NINDS NIH HHS K23 NS119666NINDS NIH HHS R01 NS117597NINDS NIH HHS R01-NS117597NINDS NIH HHS U24 NS131172NINDS NIH HHS U54 NS092090
6 · The paper itself

Abstract

Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies' guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy. We describe several identified shortcomings and argue the need for a unified, frequently updated, and easily-accessible cross-specialty society guideline. ANN NEUROL 2024;96:900-913.

Indexed as

Genetic TestingNeurodevelopmental DisordersPractice Guidelines as TopicHumansSocieties, MedicalSurveys and QuestionnairesUnited States

Identifiers

PMID39319594
PMCPMC11496025

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.