Wednesday, December 30, 2020

General Information

  • Definition - Micrognathia, glossoptosis, airway obstruction +/- cleft palate (U-shaped)
    • While there are some cephalometric attempts to objectify micrognathia, there is no current expert otolaryngology consensus concerning its diagnosis (Fayoux 2020)
    • Jaw index has been published as a possible diagnostic tool (15.2mm in PRS vs. 4.2mm in control) though this has not been validated to coincide with airway compromise (Van der Haven 1997).
    • Historically the Siebold-Robin sequence (Glossoptosis + micrognathia) and Fairbain-Robin triad (micrognathia + glossoptosis + CP) were also described
  • Etiology – In-utero mandibular hypoplasia leads to glossoptosis which prevents midline fusion of the palatal shelves.
  • Incidence – 1:2,000 to 1:30,000 live births (Taylor 2001)
    • 40-60% syndromic (Taylor 2001, Scott 2014)
      • Most commonly associated with Stickler (30-40%), 22q11.2 deletion, Fetal Alcohol syndrome, Treacher-Collins syndrome
  • Extremely variable presentation with the most symptomatic presenting with brief resolved unexplained events (BRUE), oxygen desaturation, apnea, reflux, feeding difficulty, failure to thrive.
  • Intubation is often difficult given limited mouth opening, short thyromental space and glossoptosis. Rigid or flexible video laryngoscopy are generally preferred (Peterson 2020)

Prenatal Diagnosis

  • In some cases PRS may be predicted through fetal MRI or US (Resnick 2018, Kimakhe 2017)
  • Attended delivery or Ex Utero Intrapartum Treatment may be indicated

Evaluation

  • Children with PRS should be managed by a multidisciplinary team.
  • Assessment of respiration, including pulse oximetry, and feeding should take place
  • Flexible laryngoscopy should be performed (Fayoux 2020)
  • Polysomnogram should be performed after surgical intervention and should be considered as part of the initial intervention (Fayoux 2020)
  • If there is concern for a concomitant airway lesion or pathology, rigid laryngotracheobronchoscopy should be performed (Fayoux 2020)
  • Drug induced sleep endoscopy may be considered before or after surgical management
  • If mandibular distraction is planned a craniofacial CT should be performed.

Medical Intervention

  • Non-surgical management adequate for 70% of patients with PRS (Kirschner 2003)
  • Positioning (Prone v. Decubitus)
  • Nasopharyngeal airway: Nasopharyngeal airway sizing is imprecise. Ideally you want it to sit just above the larynx while relaxed. Different techniques involve sizing to picky finger or nose to tragus measurement (likely more accurate). The skin shouldn’t blanch around the naris. If there is not an appropriately sized NP airway one may be fashioned using an ETT (2.5-3 mm if <2mo, 3-4.5 mm >2m). When appropriate and possible the NP airway position can be confirmed with flexible laryngoscopy.
    • Long term disposition with NP airway is variable depending on facility. Some centers may be comfortable with discharge depending on severity but for others the child may need to remain admitted and monitored until large enough to have airway improvement.
  • CPAP (preferred in children with central apnea) - Consensus recommends against discharge home if requiring CPAP 24hrs/day and the considerations of surgical management.
  • Endotracheal intubation (a temporizing measure towards surgical intervention)

Surgical Intervention

  • While tracheostomy was the initial first line treatment this can now often be avoided with other surgical techniques. National trends suggest growing popularity of Mandibular distraction osteogenesis (MDO) vs. Tongue lip adhesion (TLA) or glossopexy.
  • TLA
    • Addresses glossoptosis
    • Complications: Dehiscence, need for repeat operations, feeding and speech difficulty
  • MDO
    • Addresses micrognathia
    • 89.3% Success rate (Tahiri 2016) based off O2 Sat, AHI, no need for future intervention and decannulation. This is variable depending on report. Increase in mean body weight from 9.7 to 17.5 percentile (Cozzi 2008)
    • Complications: Infection, scar, facial nerve palsy, dental loss or malformation, mandibular growth abnormality, TMJ ankylosis
  • Tracheotomy
    • Has transitioned to be considered after first line failure
    • 100% success rate (based on bypassing upper airway obstruction but not on mortality and morbidity)
    • Complications: Accidental decannulation, granulation, infection, speech and swallowing impairment

References

Broucqsault H, Lamblin M.D, Hosana G., Fayoux P. Evaluation of the efficacy of tongue-lip adhesion in Pierre Robin sequence. Eur. Ann. Otorhinolaryngol. Head Neck Dis., 135 (3) (2018 Jun), pp. 155-158

Cozzi F, Totonelli G, Frediani S, Zani A, Spagnol L, Cozzi DA. The effect of glossopexy on weight velocity in infants with Pierre Robin syndrome. J Pediatr Surg. 2008 Feb;43(2):296-8. doi: 10.1016/j.jpedsurg.2007.10.015. PMID: 18280277.

Fayoux P, Daniel SJ, Allen G, Balakrishnan K, Boudewyns A, Cheng A, De Alarcon A, Goel D, Hart CK, Leboulanger N, Lee G, Moreddu E, Muntz H, Rahbar R, Nicollas R, Rogers-Vizena CR, Russell J, Rutter MJ, Smith RJH, Wyatt M, Zalzal G, Resnick CM. International Pediatric ORL Group (IPOG) Robin Sequence consensus recommendations. Int J Pediatr Otorhinolaryngol. 2020 Mar;130:109855. doi: 10.1016/j.ijporl.2019.109855. Epub 2019 Dec 28. PMID: 31896499.

Hicks K.E., Billings K.R., Purnell C.R., Carter J.M., Bhushan B, Gosain AK, Thompson DM, Rastatter JC. Algorithm for airway management in patients with pierre Robin sequence. J. Craniofac. Surg., 29 (5) (2018 Jul), pp. 1187-1192

Kimakhe J, Gilleard O, Swan MC, Pandya P, Thakur V, Ushakov F, Regan L, Minhas M, Bailey J, Hughes J, Codling P, Morris P, Thorburn G, Lees M, McEvoy M, Abel F, Cochrane L, Harding L, Nambiar S, Chorbachi R, Seselgyte R, Hay N, Patel B, Kangesu L. Prenatal ultrasound detection of micrognathia and its association with Robin sequence. J. Plast. Reconstr. Aesthet. Surg., 70 (9) (2017 Sep), pp. 1308-1311

Kirschner RE, Low DW, Randall P, Bartlett SP, McDonald-McGinn DM, Schultz PJ, Zackai EH, LaRossa D. Surgical airway management in Pierre Robin sequence: is there a role for tongue-lip adhesion? Cleft Palate Craniofac J. 2003 Jan;40(1):13-8. doi: 10.1597/1545-1569_2003_040_0013_samipr_2.0.co_2. PMID: 12498601.

Kurian C, Ehsan Z. Sleep and respiratory outcomes in neonates with Pierre Robin sequence: a concise review. Sleep Breath. (2019 Jun 25), 10.1007/s11325-019-01876-6

Peterson JD, Puricelli MD, Alkhateeb A, Figueroa AD, Fletcher SL, Smith RJH, Kacmarynski DSF. Rigid Video Laryngoscopy for Intubation in Severe Pierre Robin Sequence: A Retrospective Review. Laryngoscope. 2020 Dec 10. doi: 10.1002/lary.29262. Epub ahead of print. PMID: 33300625.

Rathé M, Rayyan M, Schoenaers J, Dormaar JT, Breuls M, Verdonck A, Devriendt K, Poorten VV, Hens G. Pierre Robin sequence: management of respiratory and feeding complications during the first year of life in a tertiary referral centre. Int. J. Pediatr. Otorhinolaryngol., 79 (8) (2015 Aug), pp. 1206-1212

Resnick C.M., Kooiman T.D., Calabrese C.E., Zurakowski D., Padwa B.L., Koudstaal M.J., Estroff J.A. An algorithm for predicting Robin sequence from fetal MRI. Prenat. Diagn., 38 (5) (2018 Apr), pp. 357-364

Scott AR, Mader NS. Regional variations in the presentation and surgical management of Pierre Robin sequence. Laryngoscope. 2014 Dec;124(12):2818-25. doi: 10.1002/lary.24782. Epub 2014 Jun 26. PMID: 24965828.

Tahiri Y, Viezel-Mathieu A, Aldekhayel S, Lee J, Gilardino M. The effectiveness of mandibular distraction in improving airway obstruction in the pediatric population. Plast Reconstr Surg. 2014 Mar;133(3):352e-359e. doi: 10.1097/01.prs.0000438049.29258.a8. PMID: 24572880.

Taylor MR. Consultation with the specialist: The Pierre Robin sequence: a concise review for the practicing pediatrician. Pediatr Rev. 2001;22(4):125-30.

Van der Haven I, Mulder JW, van der Wal KG, Hage JJ, de Lange-de Klerk ES, Haumann TJ. The jaw index: new guide defining micrognathia in newborns. Cleft Palate Craniofac J. 1997 May;34(3):240-1. doi: 10.1597/1545-1569_1997_034_0240_tjingd_2.3.co_2. PMID: 9167075.

Zhang RS, Hoppe IC, Taylor JA, Bartlett SP. Surgical management and outcomes of pierre Robin sequence: a comparison of mandibular distraction osteogenesis and tongue-lip adhesion. Plast. Reconstr. Surg., 142 (2) (2018 Aug), pp. 480-509