Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital.
Speech and Language Therapy Department, Oxford University Hospitals NHS Foundation Trust.
J Craniofac Surg. 2021;32(1):134-140. doi: 10.1097/SCS.0000000000007153.
Pfeiffer syndrome is associated with a genetic mutation of the FGFR2 (or more rarely, FGFR1) gene, and features the combination of craniosynostosis, midface hypoplasia, broad thumbs and broad great toes. Previous research has identified a wide spectrum of clinical phenotypes in patients with Pfeiffer syndrome. This study aimed to investigate the multifactorial considerations for speech, language, hearing and feeding development in patients with severe genetically-confirmed Pfeiffer syndrome.
A 23-year retrospective case-note review of patients attending the Oxford Craniofacial Unit was undertaken. Patients were categorized according to genotype. Patients with mutations located in FGFR1, or outside the FGFR2 IgIII domain-hotspot, or representing known Crouzon/Pfeiffer overlap substitutions were excluded. Twelve patients with severe FGFR2-associated Pfeiffer syndrome were identified.
Patients most commonly had pansynostosis (n = 8) followed by bicoronal (n = 3), and bicoronal and sagittal synostosis (n = 1). Seven patients had a Chiari I malformation. Four patients had a diagnosis of epilepsy. Ten patients had with hydrocephalus necessitating ventriculoperitoneal shunt insertion.Feeding difficulties were common (n = 10/12) and multifactorial. In 5/12 cases, they were associated with pansynostosis, hydrocephalus, tracheostomy and tube feeding in infancy.Hearing data were available for 10 patients, of whom 9 had conductive hearing loss, and 8 required hearing aids. Results indicated that 3/4 patients had expressive language difficulties, 3/4 had appropriate receptive language skills. 6/12 patients had a speech sound disorder and abnormal resonance.
This study has identified important speech, language, hearing and feeding issues in patients with severe FGFR2-associated Pfeiffer syndrome. Results indicate that a high rate of motor-based oral stage feeding difficulties, and pharyngeal stage swallowing difficulties necessitating regular review by specialist craniofacial speech and language therapists.
Pfeiffer 综合征与 FGFR2（或更罕见的 FGFR1）基因突变有关，其特征是颅缝早闭、中面部发育不全、宽拇指和宽大足趾。先前的研究已经确定了 Pfeiffer 综合征患者的广泛临床表型。本研究旨在探讨严重基因确诊 Pfeiffer 综合征患者的言语、语言、听力和喂养发育的多因素考虑因素。
对在牛津颅面科就诊的患者进行了 23 年的回顾性病例记录回顾。患者根据基因型进行分类。排除 FGFR1 突变、FGFR2 IgIII 结构域热点以外的突变或代表已知的 Crouzon/Pfeiffer 重叠替换的患者。确定了 12 例严重 FGFR2 相关 Pfeiffer 综合征患者。
患者最常见的是全颅缝早闭（n=8），其次是双冠状（n=3），以及双冠状和矢状缝早闭（n=1）。7 例患者存在 Chiari I 畸形。4 例患者诊断为癫痫。10 例患者患有需要脑室-腹腔分流术的脑积水。喂养困难很常见（n=10/12）且具有多因素性。在 5/12 例中，它们与全颅缝早闭、脑积水、气管切开和婴儿期管饲有关。听力数据可用于 10 例患者，其中 9 例存在传导性听力损失，8 例需要助听器。结果表明，4/4 例患者存在表达性语言困难，4/4 例患者具有适当的接受性语言技能。12/6 例患者存在语音障碍和异常共鸣。
本研究确定了严重 FGFR2 相关 Pfeiffer 综合征患者的重要言语、语言、听力和喂养问题。结果表明，高比例的基于运动的口腔阶段喂养困难和需要由专门的颅面言语治疗师定期检查的咽阶段吞咽困难。
