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

Alastair H MacLennan¹, Sara Lewis², Andres Moreno-De-Luca³, Michael Fahey⁴, Richard J Leventer⁵, Sarah McIntyre⁶, Hilla Ben-Pazi⁷, Mark Corbett⁸, Xiaoyang Wang^{9

10

11}, Gareth Baynam¹², Darcy Fehlings¹³, Manju A Kurian¹⁴, Changlian Zhu^{15

16}, Kate Himmelmann¹⁷, Hayley Smithers-Sheedy⁶, Yana Wilson⁶, Carlos Santos Ocaña¹⁸, Clare van Eyk⁸, Nadia Badawi⁶, Richard F Wintle¹⁹, Bo Jacobsson^{20

21}, David J Amor²², Carina Mallard^{15

16}, Luis A Pérez-Jurado^{23

24}, Mikko Hallman^{25

26}, Peter J Rosenbaum²⁷, Michael C Kruer², Jozef Gecz⁸

Affiliations

¹ 1 Robinson Research Institute, University of Adelaide, Adelaide, Australia.
² 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.
³ 3 Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.
⁴ 4 Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
⁵ 5 Department of Neurology Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Victoria, Australia.
⁶ 6 Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, University of Sydney, New South Wales, Australia.
⁷ 7 Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
⁸ 8 Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia.
⁹ 9 Department of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
¹⁰ 10 Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
¹¹ 11 Henan Provincial Key Laboratory of Child Brain Injury, Zhengzhou, China.
¹² 12 Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, Western Australian Department of Health, Perth, Western Australia.
¹³ 13 Holland Bloorview Kids Rehabilitation Hospital, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
¹⁴ 14 Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
¹⁵ 15 Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
¹⁶ 16 Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
¹⁷ 17 Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
¹⁸ 18 Andalusian Center for Developmental Biology-CABD, CIBERER-ISCIII and University Pablo de Olavide, Sevilla, Spain.
¹⁹ 19 Centre for Applied Genomics and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
²⁰ 20 Department of Obstetrics and Gynecology, Sahlgrenska Academy, Gothenburg University, Sweden.
²¹ 21 Department of Genetics and Bioinformatics, Domain of Health Data and Digitalisation, Institute of Public Health, Oslo, Norway.
²² 22 University of Melbourne Department of Paediatrics and Murdoch Children's Research Institute, Melbourne, Australia.
²³ 23 Women's and Children´s Hospital, South Australian Health and Medical Research Institute, University of Adelaide, Australia.
²⁴ 24 Universitat Pompeu Fabra, IMIM-Hospital del Mar and CIBERER-ISCIII, Barcelona, Spain.
²⁵ 25 Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.
²⁶ 26 PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu, Oulu, Finland.
²⁷ 27 CanChild Centre for Childhood Disability Research, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

PMID: 30963790
PMCID: PMC6582263
DOI: 10.1177/0883073819840449

Review

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

Alastair H MacLennan et al. J Child Neurol. 2019 Jul.

. 2019 Jul;34(8):472-476.

doi: 10.1177/0883073819840449. Epub 2019 Apr 9.

Authors

Affiliations

¹ 1 Robinson Research Institute, University of Adelaide, Adelaide, Australia.
² 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.
³ 3 Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.
⁴ 4 Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
⁵ 5 Department of Neurology Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Melbourne, Victoria, Australia.
⁶ 6 Cerebral Palsy Alliance Research Institute, Discipline of Child and Adolescent Health, University of Sydney, New South Wales, Australia.
⁷ 7 Pediatric Movement Disorders, Neuropediatric Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
⁸ 8 Adelaide Medical School & Robinson Research Institute, University of Adelaide, Adelaide, Australia.
⁹ 9 Department of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
¹⁰ 10 Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
¹¹ 11 Henan Provincial Key Laboratory of Child Brain Injury, Zhengzhou, China.
¹² 12 Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, Western Australian Department of Health, Perth, Western Australia.
¹³ 13 Holland Bloorview Kids Rehabilitation Hospital, Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
¹⁴ 14 Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
¹⁵ 15 Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
¹⁶ 16 Center for Brain Repair and Rehabilitation, Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden.
¹⁷ 17 Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden.
¹⁸ 18 Andalusian Center for Developmental Biology-CABD, CIBERER-ISCIII and University Pablo de Olavide, Sevilla, Spain.
¹⁹ 19 Centre for Applied Genomics and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.
²⁰ 20 Department of Obstetrics and Gynecology, Sahlgrenska Academy, Gothenburg University, Sweden.
²¹ 21 Department of Genetics and Bioinformatics, Domain of Health Data and Digitalisation, Institute of Public Health, Oslo, Norway.
²² 22 University of Melbourne Department of Paediatrics and Murdoch Children's Research Institute, Melbourne, Australia.
²³ 23 Women's and Children´s Hospital, South Australian Health and Medical Research Institute, University of Adelaide, Australia.
²⁴ 24 Universitat Pompeu Fabra, IMIM-Hospital del Mar and CIBERER-ISCIII, Barcelona, Spain.
²⁵ 25 Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland.
²⁶ 26 PEDEGO Research Unit, Medical Research Center Oulu, University of Oulu, Oulu, Finland.
²⁷ 27 CanChild Centre for Childhood Disability Research, Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

PMID: 30963790
PMCID: PMC6582263
DOI: 10.1177/0883073819840449

Abstract

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.

Keywords: causation; cerebral palsy; clinical definition; genomics.

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Conflict of interest statement

Declaration of Conflicting Interests: The authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Figures

**Figure 1.**
The clinical diagnosis of cerebral palsy covers all causes.

See this image and copyright information in PMC

References

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

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

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Conflict of interest statement

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