Dhombres Ferdinand, de Saint-Denis Timothée, Thompson Dominic, Tahraoui-Bories Julie, Lucano Caterina, Rath Ana, Mosiello Giovanni, Jouannic Jean-Marie
Fetal Medicine Department, Armand Trousseau Hospital, APHP Sorbonne University, GRC 26 and INSERM Limics, Paris, France.
Pediatric Neuro-Orthopedic Department, Armand Trousseau Hospital, APHP Sorbonne University, Paris, France.
Orphanet J Rare Dis. 2025 Jul 8;20(1):348. doi: 10.1186/s13023-025-03856-4.
The Spina Bifida and other Dysraphisms working group (SBoD WG) is an interdisciplinary group, comprising experts on spinal dysraphism from 11 European countries. In 2022, the SBoD WG was tasked by 2 European Rare Disease Networks (ERN ITHACA and ERN eUROGEN) to revise the Orphanet classification of spinal dysraphism. Over the past two decades numerous subcategories of spinal dysraphism have been described in the medical literature resulting in a proliferation of terms, numerous synonyms and variously applied definitions. In the light of this, a revision of all terms and definitions was conducted by a Delphi approach in 3 steps by neurosurgeons (fetal/paediatric/adult), urologists (paediatric/adult), rehabilitation medicine specialists, fetal medicine and perinatal imaging specialists, geneticists, pathologists, nephrologists and patient representatives, all members of the International Federation for Spina Bifida and Hydrocephalus (IFSBH).
In the first instance, 39 experts reviewed and refined the terminology that could be used to describe the anatomical characteristics of all forms of SBoD. At the second stage, 24 experts established terms and unambiguous definitions for 16 skin findings, 7 bone findings and 33 spinal cord findings that were considered essential features capable of describing all forms of spinal dysraphism. In the third stage, 29 experts validated 24 spinal dysraphic anomalies using these pre-agreed findings. All terms and definitions were validated by vote with a threshold of 80% approval (abstention was permitted). No terms with disagreement were retained in the subsequent classification. The revised SBoD classification was transferred to the Orphanet nomenclature (ORPHA:823). 16 existing ORPHAcodes were deemed obsolete, 10 ORPHAcodes were updated (terms and/or textual definitions) and 25 new ORPHAcodes were created. The SBoD working group also developed a 'decision tree' for new users, to assist them in the practical aspects of applying the revised classification and designating appropriate ORPHAcodes.
An update of the Orphanet Classification of spinal dysraphism was conducted by a European interdisciplinary group of experts encompassing all aspects of healthcare for patients with these disorders. This new classification, based on essential skin, bone and spinal cord findings offers a more logical and reproducible means to categorise SBoD. It is hoped that this will permit more precise disease delineation, consistent diagnostic accuracy and better prognostication.
脊柱裂及其他神经管闭合不全工作组（SBoD WG）是一个跨学科小组，由来自11个欧洲国家的脊柱神经管闭合不全专家组成。2022年，SBoD WG受两个欧洲罕见病网络（ERN ITHACA和ERN eUROGEN）委托，对脊柱神经管闭合不全的《孤儿网》分类进行修订。在过去二十年中，医学文献中描述了脊柱神经管闭合不全的众多子类别，导致术语激增、大量同义词以及各种不同应用的定义。有鉴于此，神经外科医生（胎儿/儿科/成人）、泌尿科医生（儿科/成人）、康复医学专家、胎儿医学和围产期影像专家、遗传学家、病理学家、肾病学家以及患者代表（均为国际脊柱裂和脑积水联合会（IFSBH）成员）采用德尔菲法分三步对所有术语和定义进行了修订。
首先，39位专家对可用于描述所有形式脊柱裂及其他神经管闭合不全解剖特征的术语进行了审查和完善。在第二阶段，24位专家为16项皮肤表现、7项骨骼表现和33项脊髓表现确定了术语和明确的定义，这些表现被视为能够描述所有形式脊柱神经管闭合不全的基本特征。在第三阶段，29位专家使用这些预先商定的表现对24种脊柱神经管闭合异常进行了验证。所有术语和定义均通过投票进行验证，批准阈值为80%（允许弃权）。后续分类中未保留有分歧的术语。修订后的脊柱裂及其他神经管闭合不全分类被转入《孤儿网》命名法（ORPHA:823）。16个现有的《孤儿网》编码被视为过时，10个《孤儿网》编码被更新（术语和/或文字定义），并创建了25个新的《孤儿网》编码。SBoD工作组还为新用户开发了一个“决策树”，以协助他们在应用修订后的分类和指定适当的《孤儿网》编码的实际操作方面。
欧洲一个跨学科专家小组对脊柱神经管闭合不全的《孤儿网》分类进行了更新，涵盖了这些疾病患者医疗保健的各个方面。这种基于基本皮肤、骨骼和脊髓表现的新分类为脊柱裂及其他神经管闭合不全的分类提供了一种更合乎逻辑且可重复的方法。希望这将允许更精确的疾病描述、一致的诊断准确性和更好的预后。
