Syndromic Kids: What not to miss? Kristina W. Rosbe MD, FACS, FAAP - PDF document

Syndromic Kids: What not to miss? Kristina W. Rosbe MD, FACS, FAAP Director, Pediatric Otolaryngology krosbe@ohns.ucsf.edu Department of Otolaryngology-Head and Neck Surgery University of California-San Francisco Objectives • Identify syndromic features by sight • Review OHNS manifestations of individual syndromes • Become familiar with general diagnostic work-up and therapeutic options for syndromic children 1

Definitions • Syndrome – pattern of multiple anomalies believed to be pathogenetically related – Pathogenesis may or may not be understood – e.g., Treacher-Collins syndrome Definitions • Malformation – Development of a structure is arrested, delayed, or misdirected – early in embryonic life – effect is permanent – e.g., cleft lip 2

Definitions • Sequence – multiple defects that occur as a result of a single presumed structural anomaly – e.g., Pierre Robin sequence 6 3

Down Syndrome  Most common syndrome  Trisomy 21 – Mostly sporadic – Can have inherited translocation  1 in 700 births  Maternal age >35 carries increased risk  Classic facies – Midface hypoplasia – epicanthal folds – upslanting palpebral fissures – “macroglossia” Hearing Concerns  Conductive hearing loss – more common – small pinna – stenotic EAC – eustachian tube dysfunction – ossicular fixation  Sensorineural hearing loss – less common – ossification of basal spiral tract, other inner ear anomalies 4

Hearing Loss Diagnosis • Can be challenging – Small ear canals – Ear specific information • Need Q 6 month audiograms with ear specific information • May need EUA’s for cleaning/assessing middle ear status • T-bone CT • Progressive HL Hearing Loss Treatment • Bilateral myringotomies and PE tubes – Higher otorrhea – Canal stenosis • Amplification – BTE: may be intolerant – BAHA • Need long-term follow-up 5

Other Health Concerns Airway – OSA: Unlikely to be “cured” by T & A alone – Narrow airways • Relative macroglossia – Floppy airways • Pharyngomalacia • Tongue base hypotonia • Acquired laryngomalacia Other Health Concerns Airway 6

Other Health Concerns Airway From: Drug-Induced Sleep Endoscopy in Persistent Pediatric Sleep-Disordered Breathing After Adenotonsillectomy Durr et al. Arch Otolaryngol Head Neck Surg. 2012;138(7):638-643. doi:10.1001/archoto.2012.1067 7

From: Drug-Induced Sleep Endoscopy in Persistent Pediatric Sleep-Disordered Breathing After Adenotonsillectomy Durr et al. Arch Otolaryngol Head Neck Surg. 2012;138(7):638-643. doi:10.1001/archoto.2012.1067 Other Health Concerns Airway – Treatment • Few outcomes studies • Supraglottoplasty • Lingual tonsillectomy • Tongue Base Surgery – SMILE – REPOSE – TONGUE REDUCTION – RADIOFREQUENCY 8

Other Health Concerns • Higher incidence sinusitis – High-arched palate – Narrow nose • GERD/aspiration 9

Goldenhar syndrome (Oculoauriculovertebral)  Unilateral craniofacial malformation  1 st and 2 nd arches  1 in 5600 births  Sporadic (most) OAVS  Facial asymmetry, unilateral ear deformities, and vertebral malformations  Auricular malformations, EAC stenosis, ossicular abnormalities – HL in greater than 50% of patients – Usually CHL – SNHL occasionally  Facial weakness in 10 to 20%  Amplification: typically unilateral HL 10

OAVS  Airway Issues  Ankylosis of TMJ  May be difficult oral intubation 11

Pierre Robin Sequence  Phenotype – Micrognathia – Glossoptosis – Cleft palate  Incidence 1 in 8500  Etiology can be multiple – positional, genetic, neurologic, connective tissue – Nonsyndromic 80% – Syndromic 20% Pierre Robin Sequence  Ear Issues  Chronic otitis media with effusion common  Palatal abnormality (ETD)  Require multiple tympanostomy tubes 12

Pierre Robin Sequence  Airway Issues  Sleep Study  Rule out Laryngomalacia  Surgical Intervention  Lip tongue adhesion (LTA)  Mandibular distraction  Tracheotomy Pierre Robin Sequence  Swallowing Issues  Swallowing assessment  Growth monitoring – risk for FTT  Intervention  Montgomery nipple  NG tube  G-tube  GERD meds 13

Pierre Robin Sequence: the UCSF Experience • 72 patients over 25 years • 31 (43%) had another diagnosed syndrome • 31 had preop sleep studies 15 (48%) normal/mild • 3 (10%) mod • 13 (42%) severe • • 34 lip tongue adhesion • 4 mandibular distraction • 8 tracheotomy (3 decannulated) Pierre Robin Sequence: the UCSF Experience • 22 (31%) required G-tubes • 14 (19%) GERD • 14(19%) laryngomalacia 14

Velocardiofacial Syndrome (VCFS) 22q11.2 deletion  – Also diGeorge syndrome Unusual facies  – elongated face – almond-shaped eyes – wide nose – small ears – micrognathia – low tone – microcephaly Congenital heart disease  Cleft palate  – Hypernasal speech Hypoparathyoidism  Immune deficiency  Learning disabilities  15

Hearing Concerns in VCFS  External ear anomalies  CHL – 75% – ETD – OME  SNHL – 15%  Audiology – BTEs may be challenge – BAHA VCFS  Vascular anomalies are very common  Anomalies of head and neck vessels most common (almost 100%)  Caution in planning VPI surgery 16

Summary • It is important to recognize syndromic features in your patients • Early hearing evaluations and amplification are important • Early recognition of airway and swallowing issues • Long-term follow-up imperative 33 17