Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome
<p><strong>Background:</strong> 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 spectr...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
Lippincott, Williams and Wilkins
2021
|
| _version_ | 1797106811401142272 |
|---|---|
| author | Kilcoyne, S Potter, KR Gordon, Z Overton, S Brockbank, S Jayamohan, J Magdum, S Smith, M Johnson, D Wall, S Wilkie, AOM |
| author_facet | Kilcoyne, S Potter, KR Gordon, Z Overton, S Brockbank, S Jayamohan, J Magdum, S Smith, M Johnson, D Wall, S Wilkie, AOM |
| author_sort | Kilcoyne, S |
| collection | OXFORD |
| description | <p><strong>Background:</strong> 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.</p>
<p><strong>Methods:</strong> 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.</p>
<p><strong>Results:</strong> 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.</p>
<p>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.</p>
<p>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.</p>
<p><strong>Conclusion:</strong> 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.</p> |
| first_indexed | 2024-03-07T07:07:46Z |
| format | Journal article |
| id | oxford-uuid:6ee0dc4f-a63d-41e7-936b-a597b588a9d0 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T07:07:46Z |
| publishDate | 2021 |
| publisher | Lippincott, Williams and Wilkins |
| record_format | dspace |
| spelling | oxford-uuid:6ee0dc4f-a63d-41e7-936b-a597b588a9d02022-05-20T12:47:07ZFeeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndromeJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:6ee0dc4f-a63d-41e7-936b-a597b588a9d0EnglishSymplectic ElementsLippincott, Williams and Wilkins2021Kilcoyne, SPotter, KRGordon, ZOverton, SBrockbank, SJayamohan, JMagdum, SSmith, MJohnson, DWall, SWilkie, AOM<p><strong>Background:</strong> 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.</p> <p><strong>Methods:</strong> 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.</p> <p><strong>Results:</strong> 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.</p> <p>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.</p> <p>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.</p> <p><strong>Conclusion:</strong> 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.</p> |
| spellingShingle | Kilcoyne, S Potter, KR Gordon, Z Overton, S Brockbank, S Jayamohan, J Magdum, S Smith, M Johnson, D Wall, S Wilkie, AOM Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome |
| title | Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome |
| title_full | Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome |
| title_fullStr | Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome |
| title_full_unstemmed | Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome |
| title_short | Feeding, communication, hydrocephalus, and intracranial hypertension in patients with severe FGFR2-associated Pfeiffer syndrome |
| title_sort | feeding communication hydrocephalus and intracranial hypertension in patients with severe fgfr2 associated pfeiffer syndrome |
| work_keys_str_mv | AT kilcoynes feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT potterkr feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT gordonz feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT overtons feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT brockbanks feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT jayamohanj feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT magdums feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT smithm feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT johnsond feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT walls feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome AT wilkieaom feedingcommunicationhydrocephalusandintracranialhypertensioninpatientswithseverefgfr2associatedpfeiffersyndrome |