Use of FEES in identifying neurological variant of laryngomalacia, dysphagia and subsequent Smith-Magenis syndrome diagnosis in a newborn

The authors present a single patient case study of a term infant presenting with marked tachypnoea and desaturations of unknown cause while breastfeeding immediately following birth. Specialised speech and language therapy assessments, including fibreoptic endoscopic evaluation of swallowing (FEES) and videofluoroscopic swallow study (VFSS), helped to identify a neurological variant of dysphagia, resulting in further neurological and genetic testing, and the positive identification of Smith-Magenis syndrome.

Nicoll Bell
Clinical Lead Speech and Language Therapist
nicoll.bell@nhs.net

Alanna Wagher
Highly Specialist Speech and Language Therapist

St George’s Hospital, London

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Keywords

paediatric dysphagia; laryngomalacia; fibreoptic endoscopic evaluation of swallowing; videofluoroscopic swallow study; Smith-Magenis syndrome

Key points

Congenital myaesthenic syndrome (CMS) classically presents with a history of skeletal weakness.
Feeding difficulties are a hallmark presentation of CMS.
Objective swallow assessments are carried out by a specialist Speech and Language Therapist (SLT) alongside an ENT Doctor.
SLT and ENT may recommend further neurological and genetic testing.

Also published in Infant:

VOLUME 21 ISSUE 6/DECEMBER 2025

Establishing an SLT-ENT neonatal inpatient FEES service in the UK: Diagnostic impact on dysphagia and upper airway pathologies

This paper describes a pioneering neonatal SLT-ENT flexible endoscopic evaluation of swallowing (FEES) service delivered jointly by specialist neonatal speech and language therapists (SLT) and paediatric ear, nose and throat (ENT) surgeons. The service assesses swallowing physiology, secretion management and upper airway anatomy for neonates with suspected dysphagia, in whom silent aspiration and airway anomalies are often undetected. This joint SLT-ENT model enabled safe, efficient completion of FEES in a tertiary neonatal unit and facilitated earlier, more accurate diagnosis of dysphagia and previously unrecognised upper airway abnormalities.