Evidence map›Paper›PMID 38359368›Full record

ArticleNeurology2024

Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.

Namita Patel, Kiera N Berggren, Man Hung, Kameron Bates, Melissa M Dixon, Karen Bax, Heather Adams, Russell J Butterfield, Craig Campbell, Nicholas E Johnson

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PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.1field-weighted citation impact, top 14% of its field
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

6 citing papers in PubMed, 8 citations in OpenAlex.

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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

10 authors at 1 institution in 2 countries.

Namita PatelFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.
Kiera N BerggrenFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.ORCID 0000-0001-6198-8153
Man HungFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.ORCID 0000-0003-2827-3740
Kameron BatesFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.
Melissa M DixonFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.
Karen BaxFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.
Heather AdamsFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.ORCID 0000-0002-5992-4297
Russell J ButterfieldFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.ORCID 0000-0002-8452-7189
Craig CampbellFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.
Nicholas E JohnsonFrom the Department of Neurology (N.P.), University of Rochester Medical Center, NY; Departments of Neurology and Pediatrics (H.A.), University of Rochester School of Medicine and Dentistry, NY; Department of Neurology and Center for Inherited Muscle Research (K.N.B., K. Bates, N.E.J.), Virginia Commonwealth University, Richmond; College of Dental Medicine (M.H.), Roseman University of Health Sciences, South Jordan, UT; Department of Pediatrics (M.M.D., R.J.B.), University of Utah, Salt Lake City; and Department of Psychology (K. Bax), and Department of Pediatrics (C.C.), London Children's Hospital, University of Western Ontario, London, Canada.ORCID 0000-0002-3917-4257
Roseman University of Health Sciences · US

Funding

Identifying the RNA Splicing and Gene Expression Changes that Cause Congenital Myotonic Dystrophy (Renewal)R01NS104010 · NINDS · VIRGINIA COMMONWEALTH UNIVERSITY · PI Nicholas Elwood Johnson · 2018 to 2026
$4.4M
Health Endpoints and Longitudinal Progression in Congenital Myotonic Dystrophy (HELP-CDM)K23NS091511 · NINDS · VIRGINIA COMMONWEALTH UNIVERSITY · PI JOHNSON, NICHOLAS ELWOOD · 2015 to 2019
$997k
NINDS NIH HHS K23 NS091511NINDS NIH HHS R01 NS104010
6 · The paper itself

Abstract

BACKGROUND AND

objectivesTo describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at birth and later, cognitive impairment, autistic features, and disordered sleep.

methodsThe neurobehavioral phenotype was assessed in this cross-sectional study by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Weschler Intelligence Scale for Children, Fourth Edition, Vineland Adaptive Behavior Scale, Second Edition (Vineland-II), Behavior Rating Inventory of Executive Function including preschool and teacher reports, Autism Spectrum Screening Questionnaire, Social Communication Scale, and Repetitive Behavior Scale-Revised. Sleep quality was evaluated with the Pediatric Sleep Questionnaire and Pediatric Daytime Sleepiness Scale.

resultsFifty-five children with CDM, ages 5 weeks to 14 years, were enrolled. The mean age and (CTG) DISCUSSION: Depressed IQ, adaptive skills, and executive functioning, poor sleep quality, and features of autism and altered social functioning individually describe different aspects of the neurobehavioral phenotype in CDM. These neurobehavioral and sleep measures could help quantitatively measure and assess the burden of cognitive impairment in CDM.

Indexed as

Autism Spectrum DisorderAutistic DisorderMyotonic DystrophyChildChild, PreschoolCross-Sectional StudiesHumansInfant, NewbornPhenotype

Identifiers

PMID38359368
PMCPMC11384658
OpenAlexW4391868047

What OpenQuestion holds

Textmetadata
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.