Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.

Clinical child psychology and psychiatry Pub Date : 2024-07-01 Epub Date: 2024-03-22 DOI:10.1177/13591045241240805
Valentina Baglioni, Dario Esposito, Katerina Bernardi, Maria Novelli, Valerio Zaccaria, Serena Galosi, Francesco Pisani
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Abstract

Functional neurological symptom disorders (FNSD) pose a common challenge in clinical practice, particularly in pediatric cases where the clinical phenotypes can be intricate and easily confused with structural disturbances. The frequent coexistence of FNSDs with other medical disorders often results in misdiagnosis. In this review, we highlight the distinctions between FNSD and various psychiatric and neurological conditions. Contrary to the misconception that FNSD is a diagnosis of exclusion, we underscore its nature as a diagnosis of inclusion, contingent upon recognizing specific clinical features. However, our focus is on a critical learning point illustrated by the case of a 14-year-old male initially diagnosed with FNSD, but subsequently found to have a rare primary monogenic movement disorder (paroxysmal kinesigenic dyskinesia, PKD). The crucial takeaway from this case is the importance of avoiding an FNSD diagnosis based solely on psychiatric comorbidity and suppressible symptoms. Instead, clinicians should diligently assess for specific features indicative of FNSD, which were absent in this case. This emphasizes the importance of making a diagnosis of inclusion. Extended follow-up and clinical-oriented genetic testing might help identify comorbidities, prevent misdiagnosis, and guide interventions in complex cases, which cannot be simply classified as "functional" solely because other conditions can be excluded.

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儿科功能性神经症状紊乱的误诊:叙事回顾和相关病例报告。
功能性神经症状障碍(FNSD)是临床实践中常见的难题,尤其是在儿科病例中,其临床表型错综复杂,很容易与结构性障碍混淆。FNSD 经常与其他内科疾病同时存在,这常常导致误诊。在这篇综述中,我们将强调 FNSD 与各种精神和神经疾病之间的区别。与认为 FNSD 是一种排除性诊断的误解相反,我们强调它是一种包含性诊断,取决于对特定临床特征的认识。然而,我们的重点在于一个关键的学习点,即一名 14 岁的男性最初被诊断为 FNSD,但随后发现患有罕见的原发性单基因运动障碍(阵发性运动障碍,PKD)。从这个病例中得到的重要启示是,必须避免仅根据精神疾病合并症和可抑制症状来诊断 FNSD。相反,临床医生应该认真评估 FNSD 的具体特征,而在本病例中并不存在这些特征。这就强调了作出包含性诊断的重要性。对于复杂病例,不能仅仅因为可以排除其他病症而简单地将其归类为 "功能性 "病例,延长随访时间和以临床为导向的基因检测可能有助于识别合并症、防止误诊并指导干预措施。
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