Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.

causation cerebral palsy clinical definition genomics

Journal

Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714

Informations de publication

Date de publication:
07 2019
Historique:
pubmed: 10 4 2019
medline: 23 6 2020
entrez: 10 4 2019
Statut: ppublish

Résumé

High throughput sequencing is discovering many likely causative genetic variants in individuals with cerebral palsy. Some investigators have suggested that this changes the clinical diagnosis of cerebral palsy and that these individuals should be removed from this diagnostic category. Cerebral palsy is a neurodevelopmental disorder diagnosed on clinical signs, not etiology. All nonprogressive permanent disorders of movement and posture attributed to disturbances that occurred in the developing fetal and infant brain can be described as "cerebral palsy." This definition of cerebral palsy should not be changed, whatever the cause. Reasons include stability, utility and accuracy of cerebral palsy registers, direct access to services, financial and social support specifically offered to families with cerebral palsy, and community understanding of the clinical diagnosis. Other neurodevelopmental disorders, for example, epilepsy, have not changed the diagnosis when genomic causes are found. The clinical diagnosis of cerebral palsy should remain, should prompt appropriate genetic studies and can subsequently be subclassified by etiology.

Identifiants

pubmed: 30963790
doi: 10.1177/0883073819840449
pmc: PMC6582263
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

472-476

Subventions

Organisme : Department of Health
ID : RP-2016-07-019
Pays : United Kingdom

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Auteurs

Alastair H MacLennan (AH)

1 Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Sara Lewis (S)

2 Barrow Neurological Institute, Phoenix Children's Hospital and Departments of Child Health, Cellular & Molecular Medicine, Neurology and Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.

Andres Moreno-De-Luca (A)

3 Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

Michael Fahey (M)

4 Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.

Richard J Leventer (RJ)

5 Department of Neurology Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Victoria, Australia.

Sarah McIntyre (S)

6 Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, University of Sydney, New South Wales, Australia.

Hilla Ben-Pazi (H)

7 Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.

Mark Corbett (M)

8 Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Xiaoyang Wang (X)

9 Department of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
10 Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
11 Henan Provincial Key Laboratory of Child Brain Injury, Zhengzhou, China.

Gareth Baynam (G)

12 Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, Western Australian Department of Health, Perth, Western Australia.

Darcy Fehlings (D)

13 Holland Bloorview Kids Rehabilitation Hospital, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

Manju A Kurian (MA)

14 Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Changlian Zhu (C)

15 Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
16 Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.

Kate Himmelmann (K)

17 Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.

Hayley Smithers-Sheedy (H)

6 Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, University of Sydney, New South Wales, Australia.

Yana Wilson (Y)

6 Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, University of Sydney, New South Wales, Australia.

Carlos Santos Ocaña (CS)

18 Andalusian Center for Developmental Biology-CABD, CIBERER-ISCIII and University Pablo de Olavide, Sevilla, Spain.

Clare van Eyk (C)

8 Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia.

Nadia Badawi (N)

6 Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, University of Sydney, New South Wales, Australia.

Richard F Wintle (RF)

19 Centre for Applied Genomics and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.

Bo Jacobsson (B)

20 Department of Obstetrics and Gynecology, Sahlgrenska Academy, Gothenburg University, Sweden.
21 Department of Genetics and Bioinformatics, Domain of Health Data and Digitalisation, Institute of Public Health, Oslo, Norway.

David J Amor (DJ)

22 University of Melbourne Department of Paediatrics and Murdoch Children's Research Institute, Melbourne, Australia.

Carina Mallard (C)

15 Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
16 Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.

Luis A Pérez-Jurado (LA)

23 Women's and Children´s Hospital, South Australian Health and Medical Research Institute, University of Adelaide, Australia.
24 Universitat Pompeu Fabra, IMIM-Hospital del Mar and CIBERER-ISCIII, Barcelona, Spain.

Mikko Hallman (M)

25 Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.
26 PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu, Oulu, Finland.

Peter J Rosenbaum (PJ)

27 CanChild Centre for Childhood Disability Research, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

Michael C Kruer (MC)

2 Barrow Neurological Institute, Phoenix Children's Hospital and Departments of Child Health, Cellular & Molecular Medicine, Neurology and Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.

Jozef Gecz (J)

8 Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia.

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Classifications MeSH