Related Experiment Video
Updated: Dec 5, 2025
Neuronavigation and Laparoscopy Guided Ventriculoperitoneal Shunt Insertion for the Treatment of Hydrocephalus
Published on: October 14, 2022
Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated
Sarah Kilcoyne1, Katherine Ruth Potter1, Zoe Gordon2
1Oxford Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, John Radcliffe Hospital.
Insights
Severe Pfeiffer syndrome (FGFR2 gene mutation) often causes significant speech, language, hearing, and feeding issues. Early intervention by specialist therapists is crucial for managing these complex developmental challenges.
Area of Science:
- Genetics and Developmental Biology
- Craniofacial Anomalies
- Pediatric Health
Background:
- Pfeiffer syndrome is a genetic disorder caused by FGFR2 (or FGFR1) mutations.
- It presents with craniosynostosis, midface hypoplasia, and distinctive limb anomalies.
- Clinical phenotypes vary widely among affected individuals.
Purpose of the Study:
- To investigate speech, language, hearing, and feeding development in severe Pfeiffer syndrome.
- To identify multifactorial considerations impacting development in these patients.
- To focus on genetically confirmed cases with FGFR2 mutations.
Main Methods:
- Retrospective case-note review over 23 years at Oxford Craniofacial Unit.
- Inclusion criteria: severe FGFR2-associated Pfeiffer syndrome.
- Exclusion criteria: FGFR1 mutations, specific FGFR2 domain mutations, and Crouzon/Pfeiffer overlap syndromes.
Main Results:
- Pansynostosis was the most common skull fusion pattern (8/12 patients).
- Feeding difficulties (10/12) and conductive hearing loss (9/10) were prevalent.
- Expressive language difficulties (3/4) and speech sound disorders (6/12) were frequently observed.
Conclusions:
- Severe FGFR2-associated Pfeiffer syndrome presents significant challenges in speech, language, hearing, and feeding.
- Motor-based oral and pharyngeal swallowing difficulties are common.
- Regular review by specialist craniofacial speech and language therapists is essential.
Background:
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.
Methods:
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.
Results:
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.
Conclusion:
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.
Related Concept Videos
01:25Glaucoma: Overview
01:15Enteral Nutrition II: Nasointestinal and Gastrostomy Feeding
Nasointestinal Feeding
Nasointestinal feeding involves placing a tube...