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      Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion

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          Abstract

          Craniocervical instability (CCI) is increasingly recognized in hereditary disorders of connective tissue and in some patients following suboccipital decompression for Chiari malformation (CMI) or low-lying cerebellar tonsils (LLCT). CCI is characterized by severe headache and neck pain, cervical medullary syndrome, lower cranial nerve deficits, myelopathy, and radiological metrics, for which occipital cervical fusion (OCF) has been advocated. We conducted a retrospective analysis of patients with CCI and Ehlers-Danlos syndrome (EDS) to determine whether the surgical outcomes supported the criteria by which patients were selected for OCF. Fifty-three consecutive subjects diagnosed with EDS, who presented with severe head and neck pain, lower cranial nerve deficits, cervical medullary syndrome, myelopathy, and radiologic findings of CCI, underwent open reduction, stabilization, and OCF. Thirty-two of these patients underwent suboccipital decompression for obstruction of cerebral spinal fluid flow. Questionnaire data and clinical findings were abstracted by a research nurse. Follow-up questionnaires were administered at 5–28 months (mean 15.1). The study group demonstrated significant improvement in headache and neck pain ( p < 0.001), decreased use of pain medication ( p < 0.0001), and improved Karnofsky Performance Status score ( p < 0.001). Statistically significant improvement was also demonstrated for nausea, syncope ( p < 0.001), speech difficulties, concentration, vertigo, dizziness, numbness, arm weakness, and fatigue ( p = 0.001). The mental fatigue score and orthostatic grading score were improved ( p < 0.01). There was no difference in pain improvement between patients with CMI/LLCT and those without. This outcomes analysis of patients with disabling CCI in the setting of EDS demonstrated significant benefits of OCF. The results support the reasonableness of the selection criteria for OCF. We advocate for a multi-center, prospective clinical trial of OCF in this population.

          Supplementary information

          The online version contains supplementary material available at 10.1007/s10143-023-02249-0.

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          The 2017 international classification of the Ehlers-Danlos syndromes.

          Fransiska Malfait, Clair Francomano, Peter K. Byers … (2017)
          The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.
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            Assessing the clinical significance of change scores recorded on subjective outcome measures.

            Hugh C Hurst, Jennifer Bolton (2004)
            To date, clinical trials have relied almost exclusively on the statistical significance of changes in scores from outcome measures in interpreting the effectiveness of treatment interventions. It is becoming increasingly important, however, to determine the clinical rather than statistical significance of these change scores. To determine cutoff values for change scores that distinguish patients who have clinically improved from those who have not. Data were obtained from 165 back and 100 neck patients undergoing chiropractic treatment. Patients completed the Bournemouth Questionnaire (BQ) before treatment and the BQ and Patient's Global Impression of Change (PGIC) scale after treatment. Three statistical methods were applied to individual change scores on the BQ. These were (1) the Reliable Change Index (RCI); (2) the effect size (ES); and (3) the raw and percentage change scores. The PGIC scale was used as the "gold standard" of clinically significant change. The RCI, using the cutoff value of >1.96, appropriately identified clinical improvement in back patients but not in neck patients. An individual ES of approximately 0.5 had the highest sensitivity and specificity in distinguishing back and neck patients who had undergone clinically significant improvement from those who had not. In terms of raw score changes, percentage BQ change scores [(raw change score/baseline score) x 100] of 47% and 34% were identified as having the highest sensitivity and specificity in distinguishing clinically significant improvement from nonimprovement in back and neck patients, respectively. This study provides a methodological framework for identifying clinically significant change in patients. This approach has important implications in providing clinically relevant information about the effect of a treatment intervention in an individual patient.
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              Neurological and spinal manifestations of the Ehlers-Danlos syndromes.

              Fraser C. Henderson, Claudiu Austin, Edward Benzel … (2017)
              The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression. This report also discusses increased prevalence of migraine, idiopathic intracranial hypertension, Tarlov cysts, tethered cord syndrome, and dystonia, where associations with EDS have been anecdotally reported, but where epidemiological evidence is not yet available. Chiari Malformation Type I (CMI) has been reported to be a comorbid condition to EDS, and may be complicated by craniocervical instability or basilar invagination. Motor delay, headache, and quadriparesis have been attributed to ligamentous laxity and instability at the atlanto-occipital and atlantoaxial joints, which may complicate all forms of EDS. Discopathy and early degenerative spondylotic disease manifest by spinal segmental instability and kyphosis, rendering EDS patients prone to mechanical pain, and myelopathy. Musculoskeletal pain starts early, is chronic and debilitating, and the neuromuscular disease of EDS manifests symptomatically with weakness, myalgia, easy fatigability, limited walking, reduction of vibration sense, and mild impairment of mobility and daily activities. Consensus criteria and clinical practice guidelines, based upon stronger epidemiological and pathophysiological evidence, are needed to refine diagnosis and treatment of the various neurological and spinal manifestations of EDS. © 2017 Wiley Periodicals, Inc.
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                Author and article information

                Contributors
                Fraser C. Henderson Sr.: Henderson@FraserHendersonMD.COM
                Journal
                Journal ID (nlm-ta): Neurosurg Rev
                Journal ID (iso-abbrev): Neurosurg Rev
                Title: Neurosurgical Review
                Publisher: Springer Berlin Heidelberg (Berlin/Heidelberg )
                ISSN (Print): 0344-5607
                ISSN (Electronic): 1437-2320
                Publication date (Electronic): 2 January 2024
                Publication date PMC-release: 2 January 2024
                Publication date (Print): 2024
                Volume: 47
                Issue: 1
                Electronic Location Identifier: 27
                Affiliations
                [1 ]GRID grid.411024.2, ISNI 0000 0001 2175 4264, Department of Neurosurgery, , University of Maryland School of Medicine, ; Baltimore, MD USA
                [2 ]The Metropolitan Neurosurgery Group LLC, Silver Spring, MD USA
                [3 ]Department of Surgery, Penn State College of Medicine, ( https://ror.org/02c4ez492) Hershey, PA USA
                [4 ]Division of Neurosurgery, University of Maryland Capital Region Medical Center, ( https://ror.org/00a20h625) Largo, Maryland USA
                [5 ]GRID grid.478866.3, Bobby Jones Chiari & Syringomyelia Foundation, ; Staten Island, New York USA
                [6 ]Luminis Health, Doctors Community Medical Center, Lanham, Maryland USA
                [7 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Department of Pediatrics, , Johns Hopkins University School of Medicine, ; Baltimore, MD USA
                [8 ]GRID grid.257413.6, ISNI 0000 0001 2287 3919, Department of Medical and Molecular Genetics, , Indiana University School of Medicine, ; Indianapolis, Indiana USA
                Article
                Publisher ID: 2249
                DOI: 10.1007/s10143-023-02249-0
                PMC ID: 10758368
                PubMed ID: 38163828
                SO-VID: ef7ad614-b176-41b8-bf97-a154ff21529c
                Copyright © © The Author(s) 2023
                License:

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

                History
                Date received : 16 June 2023
                Date revision received : 30 November 2023
                Date accepted : 9 December 2023
                Categories
                Subject: Research
                Custom metadata
                issue-copyright-statement © Springer-Verlag GmbH Germany, part of Springer Nature 2024

                ScienceOpen disciplines: Surgery
                Keywords: occipito-cervical fusion,basion axis interval,horizontal harris measurement,ventral brainstem compression,clivo-axial angle,cervical medullary syndrome
                Data availability:
                ScienceOpen disciplines: Surgery
                Keywords: occipito-cervical fusion, basion axis interval, horizontal harris measurement, ventral brainstem compression, clivo-axial angle, cervical medullary syndrome

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