European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.
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DOI：
10.1186/s13023-023-02795-2
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发表时间：
2023-07-27
影响因子：
3.7
通讯作者：
中科院分区：
文献类型：
--
作者：
枕骨大孔狭窄是软骨发育不全的严重并发症，并可能危及生命。与一般人群相比，软骨发育不全婴儿的枕骨大孔较小，头2年内生长受限和颅骨板软骨结合过早闭合都可能导致枕骨大孔变窄。枕骨大孔狭窄可导致脑干和脊髓受压，导致睡眠呼吸暂停和猝死。文献中缺乏关于枕骨大孔狭窄定期监测的时间、应进行哪些评估以及何时应停止定期筛查的明确性。欧洲软骨发育不全论坛（EAF）是一个由临床医生和患者倡导者组成的团体，代表软骨发育不全社区。EAF指导委员会的成员被邀请提交关于枕骨大孔狭窄的检测和管理的指导原则的建议，这些建议在公开研讨会上进行了整理和讨论。每项原则的内容和措辞都经过仔细审查，并举行匿名投票以通过原则和投票决定协议的水平。共制定了6项指导原则，其中包括对婴幼儿的常规临床监测、常规MRI筛查的时间安排、将疑似枕骨大孔狭窄转诊给神经外科医生、综合评估以告知枕骨大孔扩张的决定、联合决策以进行减压以及对先前未发现枕骨大孔狭窄的大龄儿童的管理。所有原则均达到通过所需的≥ 75%多数（范围89-100%），一致性水平较高（范围7.6-8.9）。通过制定检测和管理枕骨大孔狭窄的指导原则，EAF旨在使婴儿和幼儿能够对这种可能危及生命的并发症进行最佳监测。
Foramen magnum stenosis is a serious, and potentially life-threatening complication of achondroplasia. The foramen magnum is smaller in infants with achondroplasia, compared with the general population, and both restricted growth in the first 2 years and premature closure of skull plate synchondroses can contribute to narrowing. Narrowing of the foramen magnum can lead to compression of the brainstem and spinal cord, and result in sleep apnoea and sudden death. There is a lack of clarity in the literature on the timing of regular monitoring for foramen magnum stenosis, which assessments should be carried out and when regular screening should be ceased. The European Achondroplasia Forum (EAF) is a group of clinicians and patient advocates, representative of the achondroplasia community. Members of the EAF Steering Committee were invited to submit suggestions for guiding principles for the detection and management of foramen magnum stenosis, which were collated and discussed at an open workshop. Each principle was scrutinised for content and wording, and anonymous voting held to pass the principle and vote on the level of agreement. A total of six guiding principles were developed which incorporate routine clinical monitoring of infants and young children, timing of routine MRI screening, referral of suspected foramen magnum stenosis to a neurosurgeon, the combination of assessments to inform the decision to decompress the foramen magnum, joint decision making to proceed with decompression, and management of older children in whom previously undetected foramen magnum stenosis is identified. All principles achieved the ≥ 75% majority needed to pass (range 89–100%), with high levels of agreement (range 7.6–8.9). By developing guiding principles for the detection and management of foramen magnum stenosis, the EAF aim to enable infants and young children to receive optimal monitoring for this potentially life-threatening complication.
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影响因子：
5.1
作者：
PAULI, RM;SCOTT, CI;LEBOVITZ, R
通讯作者：
LEBOVITZ, R
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作者：
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通讯作者：
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影响因子：
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作者：
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通讯作者：
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