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Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper

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Abstract

Children living with achondroplasia are at an increased risk of developing neurological complications, which may be associated with acute and life-altering events. To remediate this risk, the timely acquisition of effective neuroimaging that can help to guide clinical management is essential. We propose imaging protocols and follow-up strategies for evaluating the neuroanatomy of these children and to effectively identify potential neurological complications, including compression at the cervicomedullary junction secondary to foramen magnum stenosis, spinal deformity and spinal canal stenosis. When compiling these recommendations, emphasis has been placed on reducing scan times and avoiding unnecessary radiation exposure. Standardized imaging protocols are important to ensure that clinically useful neuroimaging is performed in children living with achondroplasia and to ensure reproducibility in future clinical trials. The members of the European Society of Pediatric Radiology (ESPR) Neuroradiology Taskforce and European Society of Neuroradiology pediatric subcommittee, together with clinicians and surgeons with specific expertise in achondroplasia, wrote this opinion paper. The research committee of the ESPR also endorsed the final draft. The rationale for these recommendations is based on currently available literature, supplemented by best practice opinion from radiologists and clinicians with subject-specific expertise.

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Acknowledgements

Study collaborators and affiliations

Members of the ESPR Neuroradiology Taskforce:

Andrea Rossi1,2, Catherine Adamsbaum3, Vasileios Xydis4, Daniel Connolly5, Maarten Hans Lequin6, Volodia Dangouloff-Ros7, Luciana Porto8, Eleonora Piccirilli9,10, Jean-François Chateil11, Élida Vázquez Méndez.12

Members of the ESNR Pediatric Subcommittee:

Kshitij Mankad13, Chen Hoffmann14, Ana Filipa Geraldo.15,16

1Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

2Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.

3Faculty of Medicine, Paris-Saclay University, 63 Rue Gabriel Péri, 94270, Le Kremlin Bicêtre, France.

4Department of Clinical Radiology & Imaging, Medical School, University Ioannina, 45,100 Ioannina, Greece.

5Department of Neuroradiology, Sheffield Children’s Hospital, Sheffield, UK.

6Division of Imaging and Oncology, Department of Radiology UMCU Utrecht, The Netherlands.

7Service de Radiologie Pédiatrique, Hôpital Universitaire Necker Enfants Malades, Paris, France.

8Institute of Neuroradiology, Hospital of Goethe University, University Hospital Frankfurt, Schleusenweg 2 – 16, 60,528 Frankfurt am Main, Germany.

9Neuro-Oncology Unit, Department of Imaging, Bambino Gesù Children’s Hospital, Rome, Italy.

10Department of Neuroscience, Imaging and Clinical Sciences, University “G. D’Annunzio” of Chieti-Pescara, Chieti, Italy.

11Centre de Résonance Magnétique des Systèmes Biologiques, UMR5536 CNRS/Univ. Bordeaux, F-33076, Bordeaux, France.

12Pediatric Radiology, Hospital Universitari Vall d’Hebron, Vall d’Hebron Barcelona Hospital Campus, Spain.

13Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK.

14Tel Hashomer Hospital—Chaim Sheba Medical Center, Department of Radiology, Ramat-Gan, Israel.

15Diagnostic Neuroradiology Unit, Imaging department, Centro Hospitalar Vila Nova de Gaia/Espinho (CHVNG/E), Porto, Portugal.

16Clínica Universitária de Imagiologia, Faculty of Medicine of the University of Lisbon, Lisbon, Portugal.

Author information

Author notes

  1. Mariasavina Severino and Felice D’Arco contributed equally to the paper.

Authors and Affiliations

  1. Department of Radiology, Manchester University NHS Foundation Trust, Oxford Road, Manchester, M13 9WL, UK

    Jenny Wright

  2. Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK

    Moira Cheung

  3. Department of Neuroradiology, Guy’s and Saint Thomas’ NHS Foundation Trust, London, UK

    Ata Siddiqui & Felice D’Arco

  4. Paediatric Spinal Surgery, Evelina London Children’s Hospital, London, UK

    Jonathan Lucas

  5. Department of Radiology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK

    Alistair Calder, Owen J. Arthurs & Felice D’Arco

  6. Department of Clinical Radiology and Imaging, Medical School, University of Ioannina, Ioannina, Greece

    Maria I. Argyropoulou

  7. Unidad de Radiologia Pediatrica, Servicio de Radiologia, Hospital Universitario Virgen del Rocio, Seville, Spain

    Pablo Caro-Dominguez

  8. Department of Paediatric Neurosurgery, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, UK

    Dominic Thompson

  9. NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK

    Alistair Calder, Owen J. Arthurs, Dominic Thompson & Felice D’Arco

  10. Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

    Mariasavina Severino

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  1. Jenny Wright
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the members of the ESPR Neuroradiology Taskforce

  • Andrea Rossi
  • , Catherine Adamsbaum
  • , Vasileios Xydis
  • , Daniel Connolly
  • , Maarten Hans Lequin
  • , Volodia Dangouloff-Ros
  • , Luciana Porto
  • , Eleonora Piccirilli
  • , Jean-François Chateil
  •  & Élida Vázquez Méndez

the members of the ESNR Pediatric Subcommittee

  • Kshitij Mankad
  • , Chen Hoffmann
  •  & Ana Filipa Geraldo

Contributions

• J.W. conceived and wrote the manuscript, researched the literature, and formatted the tables.

• F.D’A. conceived and wrote the manuscript and provided the figures.

• D.T. and M.C. conceived and wrote the manuscript.

• A.C., J.L., M.I.A., P.C.R., M.S., and O.A. participated in the first version and contacted the research board of the European Society of Pediatric Radiology (O.A.), the ESNR (M.S.), and the Neuroradiology Taskforce (M.I.A.) for endorsement.

• A.S. reviewed the images.

• All authors contributed to the process of drafting and editing the final manuscript.

Corresponding author

Correspondence to Jenny Wright.

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Appendix

Appendix

Table 5 Summary of the findings of a scoping literature review undertaken to inform this opinion paper
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Wright, J., Cheung, M., Siddiqui, A. et al. Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper. Pediatr Radiol 53, 2323–2344 (2023). https://doi.org/10.1007/s00247-023-05728-0

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