Orofacial motor dysfunction in Moebius syndrome

Abstract

Aim To review orofacial disabilities and their consequences in children with Moebius syndrome (MBS). Method We retrospectively analysed the records of 32 patients (21 males, 11 females) with non‐progressive bilateral facial and abducens palsies who had been examined before 6 months of age. Results All facial muscles were severely involved in 17 patients; in the 15 others, partial movements were found in the lower face. Most patients (n=24) were unable to smile. Patients frequently presented with congenital trismus (n=20) and drooling (n=18). Additional palsies involved cranial nerves IX and X (n=18) and XII (n=25). Sucking was absent or weak in 30 patients; swallowing was impaired in 25. During the first month of life, feeding disorders were graded as severe/moderate in 25. Respiratory complications occurred in 17. Severe feeding disorders were associated with congenital trismus (p=0.01) and with cranial nerve IX and X palsy (p=0.01). Growth failure between 1 and 6 months of age, followed by catch‐up growth between 6 and 12 months, was observed in 20 patients. Between 2 and 5 years of age, 25 out of 32 patients attained normal oral diet and 28 out of 29 showed normal growth. Interpretation Children with MBS frequently require adjusted therapeutic options to prevent failure to thrive. Congenital trismus, cranial nerve IX and X palsy, and laryngeal–tracheal dysfunctions are predictors of severe feeding disorders. What this paper adds Moebius syndrome frequently induces reduced oral intake and early failure to thrive. Normal oral diet and growth parameters are attained at 2 to 5 years of age. Congenital trismus, pharyngeal palsy, and laryngeal disorders predict dysphagia.

A Mouse Model of Dysphagia After Facial Nerve Injury

“…Although the facial nerve is the most commonly injured cranial nerve in humans 1,2 and is known to cause dysphagia, 3,4,18,19 research on this topic is sparse; therefore, the underlying pathological mechanisms remain largely unexplored. We propose that the mouse model developed here may play a pivotal role in filling this scientific/clinical gap by providing a high throughput platform to understand the effects of CN VII injury on deglutition and to develop treatments that enhance neuroplasticity to prevent (or compensate for) facial motoneuron death.…”

“…1,2 Peripheral mechanisms of injury are quite varied and may include local infection, immunological disorders, drug toxicity, tumor compression, and head/facial trauma as well as surgical (iatrogenic), congenital (e.g., Mobius syndrome), and idiopathic (unknown) causes. [3][4][5][6] Regardless of etiology, the hallmark clinical manifestation is unilateral facial nerve palsy. 6,7 For the vast majority of cases (60%-70%), the cause is idiopathic and commonly referred to as Bell palsy.…”

“…[14][15][16][17] Although dysphagia is a recognized symptom, 3,4,18,19 research on swallowing-related outcomes and targeted treatments following facial nerve palsy is scarce. The majority of reported dysphagic signs/symptoms fall within the oral stage of deglutition, such as lip incontinence with food/liquid, 18,20 premature spillage of food/liquid into the pharynx, 18,21,22 post-swallow oral residue, 18,20,22 multiple swallows per single bolus (i.e., piecemeal deglutition), 19 poor suck-swallow coordination during bottle/breast feeding, 3,4 and prolonged mealtime duration. 3 Coughing/choking on food and/or liquid has also been reported 3,18 ; however, the source of airway protection breakdown (oral vs. pharyngeal impairment) has not yet been investigated.…”

“…The majority of reported dysphagic signs/symptoms fall within the oral stage of deglutition, such as lip incontinence with food/liquid, 18,20 premature spillage of food/liquid into the pharynx, 18,21,22 post-swallow oral residue, 18,20,22 multiple swallows per single bolus (i.e., piecemeal deglutition), 19 poor suck-swallow coordination during bottle/breast feeding, 3,4 and prolonged mealtime duration. 3 Coughing/choking on food and/or liquid has also been reported 3,18 ; however, the source of airway protection breakdown (oral vs. pharyngeal impairment) has not yet been investigated. Moreover, dysphagia treatment following facial nerve injury remains largely symptombased (e.g., behavioral/postural strategies and diet modification) [23][24][25][26] rather than targeting the underlying causative pathological mechanisms.…”

“…Most facial nerve injury research has focused on improving cosmetic (facial asymmetry, synkinesis) and ocular (eye dryness, infection) sequelae 14–17 . Although dysphagia is a recognized symptom, 3,4,18,19 research on swallowing‐related outcomes and targeted treatments following facial nerve palsy is scarce. The majority of reported dysphagic signs/symptoms fall within the oral stage of deglutition, such as lip incontinence with food/liquid, 18,20 premature spillage of food/liquid into the pharynx, 18,21,22 post‐swallow oral residue, 18,20,22 multiple swallows per single bolus (i.e., piecemeal deglutition), 19 poor suck–swallow coordination during bottle/breast feeding, 3,4 and prolonged mealtime duration 3 .…”