Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.

Journal

Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060

Informations de publication

Date de publication:
12 Mar 2024
Historique:
medline: 15 2 2024
pubmed: 15 2 2024
entrez: 15 2 2024
Statut: ppublish

Résumé

To 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. The 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. Fifty-five children with CDM, ages 5 weeks to 14 years, were enrolled. The mean age and (CTG) 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.

Sections du résumé

BACKGROUND AND OBJECTIVES OBJECTIVE
To 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.
METHODS METHODS
The 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.
RESULTS RESULTS
Fifty-five children with CDM, ages 5 weeks to 14 years, were enrolled. The mean age and (CTG)
DISCUSSION CONCLUSIONS
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.

Identifiants

DOI: 10.1212/WNL.0000000000208115 PMID: 38359368
pubmed: 38359368
doi: 10.1212/WNL.0000000000208115
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e208115

Auteurs

Namita Patel (N)

From 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 Berggren (KN)

From 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 Hung (M)

From 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 Bates (K)

From 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 Dixon (MM)

From 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 Bax (K)

From 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 Adams (H)

From 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 Butterfield (RJ)

From 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 Campbell (C)

From 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 Johnson (NE)

From 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

Classifications MeSH