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

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Syndromic Kids: What not to miss?

Department of Otolaryngology-Head and Neck Surgery University of California-San Francisco

Kristina W. Rosbe MD, FACS, FAAP Director, Pediatric Otolaryngology krosbe@ohns.ucsf.edu

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

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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,

• r misdirected

– early in embryonic life – effect is permanent – e.g., cleft lip

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Definitions

• Sequence

– multiple defects that

• ccur as a result of

a single presumed structural anomaly – e.g., Pierre Robin sequence

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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

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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

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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

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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

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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

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Other Health Concerns

• Higher incidence sinusitis

– High-arched palate – Narrow nose

• GERD/aspiration

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Goldenhar syndrome (Oculoauriculovertebral)

 Unilateral craniofacial

malformation

 1st and 2nd arches  1 in 5600 births  Sporadic (most)

OAVS

 Facial asymmetry, unilateral ear

deformities, and vertebral malformations

 Auricular malformations, EAC stenosis,

• ssicular abnormalities

– HL in greater than 50% of patients – Usually CHL – SNHL occasionally

 Facial weakness in 10 to 20%  Amplification: typically unilateral HL

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OAVS

 Airway Issues  Ankylosis of TMJ  May be difficult oral

intubation

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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

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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

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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

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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

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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

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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