University of Oulu

MacLennan, A. H., Lewis, S., Moreno-De-Luca, A., Fahey, M., Leventer, R. J., McIntyre, S., … Gecz, J. (2019). Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. Journal of Child Neurology, 34(8), 472–476.

Genetic or other causation should not change the clinical diagnosis of cerebral palsy

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Author: MacLennan, Alastair H.1; Lewis, Sara2; Moreno-De-Luca, Andres3;
Organizations: 1Robinson Research Institute, University of Adelaide, Adelaide, Australia
2Barrow Neurological Institute, Phoenix Children’s Hospital and Departments of Child Health, Cellular & Molecular Medicine, Neurology and Genetic s, University of Arizona College of Medicine, Phoenix, AZ, USA
3Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA
4Department of Paediatrics, Monash University, Melbourne, Victoria, Australia
5Department of Neurology Royal Children’s Hospital, Murdoch Children’s Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Victoria, Australia
6Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, University of Sydney, New South Wales, Australia
7Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel
8Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia
9Department of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
10Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China
11Henan Provincial Key Laboratory of Child Brain Injury, Zhengzhou, China
12Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, Western Australian Department of Health, Perth , Western Australia
13Holland Bloorview Kids Rehabilitation Hospital, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada
14Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
15Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China
16Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden
17Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden
18Andalusian Center for Developmental Biology-CABD, CIBERER-ISCIII and University Pablo de Olavide, Sevilla, Spain
19Centre for Applied Genomics and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
20Department of Obstetrics and Gynecology, Sahlgrenska Academy, Gothenburg University, Sweden
21Department of Genetics and Bioinformatics, Domain of Health Data and Digitalisation, Institute of Public Health, Oslo, Norway
22University of Melbourne Department of Paediatrics and Murdoch Children’s Research Institute, Melbourne, Australia
23Women’s and Children ́ s Hospital, South Australian Health and Medical Research Institute, University of Adelaide, Australia
24Universitat Pompeu Fabra, IMIM-Hospital del Mar and CIBERER-ISCIII, Barcelona, Spain
25Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland
26PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu, Oulu, Finland
27CanChild Centre for Childhood Disability Research, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.2 MB)
Persistent link:
Language: English
Published: SAGE Publications, 2019
Publish Date: 2019-10-10


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.

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Series: Journal of child neurology
ISSN: 0883-0738
ISSN-E: 1708-8283
ISSN-L: 0883-0738
Volume: 34
Issue: 8
Pages: 472 - 476
DOI: 10.1177/0883073819840449
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
3123 Gynaecology and paediatrics
Copyright information: © The Author(s) 2019. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License ( which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (