Pediatric Grand Rounds ‐ University of TX Health Science Center

11/18/2015

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COMPREHENSIVE MANAGEMENT OF CLEFT LIP & PALATE

Christine B. Taylor, MDChristian L. Stallworth, MD

11/20/2015

DISCLOSURE

The presenters have no relationships with commercial companies to disclose.

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LEARNING OBJECTIVES

At the end of this presentation, the participant will be able to:

1. Describe the etiology, basic embryology, and anatomy of cleft lip & palate 2. Understand the treatment strategies for caring for cleft patients 3. Improve his/her understanding of the multidisciplinary care required to care for cleft patients, from birth to adolescence

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OUTLINE

Epidemiology

Anatomy & Embryology

Classification of Cleft Types

Multidiscipline team management

Associated Pathology

Surgical and non-surgical treatments/ timing of therapies

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EPIDEMIOLOGY11/20/2015

EPIDEMIOLOGYIncidence: Cleft lip & palate (CLP) occurs in approximately 1/680 – 750 births in U.S.

Isolated CP (CPO) ½ frequency compared to CLP

North America CLP 0.2 -2.3 cases per 1,000

CPO 0.1 -1.1 cases per 1,000

Gender Prevalence: CLP - Male : Female ratio 1.5 – 2 : 1

CPO - Male : Female ratio 1 : 2

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EPIDEMIOLOGYEthnicity breakdown for CL/P Native American 3.6: 1000

Asian 2.1/1,000

Caucasian 1/1,000

African American 0.4/1,000

Hispanic 0.75 -1/1,000

CPO has fairly stable incidence across ethnic subgroups

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EPIDEMIOLOGYCleft Lip +/- Palate

(CLP)Isolated Cleft Palate (CP)

Occurrence 1:1000 1:2000

Ethnicity Variable Constant

Male:Female 2:1 1:2

Unilateral (Left > Right) Bilateral11/20/2015

ETIOLOGYGenetic + Environmental factors

Environmental Factors: Parental age (increased) Congenital infections (Rubella)Medications (Thalidomide, Valproic acid, phenytoin, retinoic acid, dioxin, trimethadione, antineoplastic agents, glucocorticoids) Nutritional Factors (folic acid, obesity, maternal diabetes – not gestational)Maternal tobacco use

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ETIOLOGY

Combination of Genetic + Environmental factors

Genetic Factors: TGFB3 (transforming growth factor beta 3)

MSX1 (msh homeobox gene) – increased incidence when combined with tobacco/EtOH

IRF6 (Interferon Regulatory Factor 6) – associated with Van der Woude Syndrome; contributes to cleft in up to 12% cases

Syndromic Association: 50% CPO

30% CL/P

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PIERRE ROBIN SEQUENCE

TriadMicrognathiaGlossoptosisCleft palate (classically U-shaped)

Initial defect is hypoplasia of mandible May be 2/2 to oligohydramnios

14% of cases associated with congenital heart defects

Limb, ocular, rib, and sternal anomalies/abnormalities also described

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PIERRE ROBIN SEQUENCE

Respiratory difficulty with periodic cyanotic attacks Prone positioning, nasopharyngeal airway, tracheotomy, distraction osteogenesis

• Prevalence 1:8,5000• May occur as an isolated anomaly, but may also be feature of a syndrome

• Associated syndromes: Diastrophic dysplasia, Nager acrofacial dysostosis, otopalatodigital syndrome, popliteal pterygium, Stickler, Shprintzen, del 6q, Mobius, CHARGE

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STICKLER SYNDROMEHereditary arthro-opthlamopathy

Associated with Pierre Robin Sequence

Ocular anomalies – high myopia presenting before age 10, retinal detachment, cataract, vitreous degeneration, astigmatism, strabismus, glaucoma

Midfacial hypoplasia with short maxilla and depressed nasal bridge and elongated philtrum

Hearing loss (both sensorineural and conductive)

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22Q11 SYNDROMESMicrodeletions or additions

Incidence 1:4,000 births

DiGeorge, velocardiofacial, conotruncal anomaly face syndrome

Other manifestations: Cardiac – conotruncal defects

Defective Cell-Mediated Immune

Hypertelorism, downward-slanting palpebral fissures

Low set ears

Choanal atresia

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VAN DER WOUDE SYNDROMEAutosomal Dominant

Associated with defective IRF6 pathway (Interferon Regulatory Factor 6)

Congenital blind lower lip pits (paramedian, bilateral)

Hypodontia, missing premolars/ bicuspids

Cleft lip/palate, submucous cleft

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OTHER SYNDROMES ASSOCIATED WITH CLEFTGoldenhar (Hemifacial microsomia, oculoaruiculvertebral dysplasia spectrum, facioauriculovertebral sequence)

Apert (Acrocephalosyndactyly Type I)

Shprintzen

Treacher Collins

Marfan

Orofaciodigital syndrome type I (Papillon-League-Psaume) & Type II

Otopalatalodigital syndrome

Smith-Lemli-Opitz

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FAMILY HISTORY

Likelihood of clefting in a child given affected family members

Family History Cleft Lip +/- Cleft Palate Cleft Palate

No family history 0.1% 0.04%

Unaffected parents with one previously affected child

4% 2%

Two previously affected children 9% 1%

One affected parent 4% 6%

One affected parent and one previously affected child

17% 15%

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PRENATAL DIAGNOSIS & COUNSELING

50% of children with cleft lip & palate have other abnormalities as well22% CLP patients have abnormal karyotype

Prenatal Ultrasound:24 weeks gestation: identify cleft lip 30-55% of time (some variability due to US protocols)Ability to identify CPO on US lower – closer to 1.5%, although imaging modalities improving

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PRENATAL DIAGNOSIS & COUNSELINGGoals of prenatal detection: Obtain genetic counseling

Provide emotional support

Treatment planning

Important to discuss recurrence risk with subsequent pregnancies

Parental education regarding feeding, comorbidities, and counsel regarding expectations/timing of procedures Pre-order special feeding supplies

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ANATOMY & EMBRYOLOGY11/20/2015

ANATOMY

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ANATOMY

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CLEFT ANATOMY

Cleft LipUnilateral: Orbicularis oris muscle abnormally inserts onto anterior nasal spine on the non-cleft side, and onto the nasal alar base on the cleft side

Bilateral: Premaxilla positioned more anteriorly Prolabium does not contain orbicularis muscle

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CLEFT ANATOMY

Cleft PalateDeficiency of Primary/secondary palate + musculatureAbnormal insertion of Levator veli palatini muscle

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LEVATOR VELI PALATINI MUSCLEIn cleft palate, the paired LVP muscles run from the posterior palate in an anterior-posterior direction

3 abnormal insertion points:1. Posterior edge of hard palate2. Tensor veli palatini aponeurosis3. Superior pharyngeal constrictor muscle

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EMBRYOLOGYDevelopment of nose/upper lip begins during 4th week of gestation

Several pathways involved: Sonic hedgehog (SHH), wingless type (Wnt), bone morphogenic protein (BMP), fibroblast growth factor (FGF)

Fusion of frontonasal & maxillary processes begins at 32 days

Upper lip development typicallycomplete by 48th day gestation

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EMBRYOLOGY8th week: tongue withdraws from position between lateral maxillary prominences shift from vertical to horizontal position and fuse Several mechanisms believed to contribute to migration Increased mesenchymal proliferation + increased tissue fluid

content

Signaling pathways: platelet-derived growth factor, FGF10, SHH, and TGFbeta-3

• University of Indiana – Development of Face and PalateJudith A. Stoffer, MA; Commissioned by Valerie Dean O’Loughlin, Ph.D, Professor of Anatomy Indiana University Bloomington

http://www.indiana.edu/~anat550/hnanim/face/face.html

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EMBRYOLOGY

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EMBRYOLOGY

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EMBRYOLOGY

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EMBRYOLOGY & ANATOMY

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CLEFT CLASSIFICATION11/20/2015

CLEFT LIP

Unilateral vs. Bilateral

Complete vs. Incomplete

Microform Cleft

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CLEFT PALATE

Unilateral vs. Bilateral

Primary vs. Secondary

Complete vs. Incomplete

Submucous Cleft

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UNILATERAL INCOMPLETE CLEFT LIP

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UNILATERAL COMPLETE CLEFT LIP & PALATE

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MICROFORM CLEFT

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BILATERAL INCOMPLETE CLEFT

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BILATERAL COMPLETE CLEFT LIP

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INCOMPLETE CLEFT PALATE

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COMPLETE CLEFT PALATE

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BILATERAL COMPLETE CLEFT LIP & PALATE

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Pediatric Grand Rounds ‐ University of TX Health Science Center

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ISOLATED CLEFT OF SECONDARY PALATE

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SUBMUCOUS CLEFT PALATETriad Bifid uvula Zona pellucidaNotched hard palate or absent palatal spine

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CLEFT NASAL DEFORMITYDeviation of nasal bones toward cleft side

Shortened columella

Foreshortened medial crus of cleft side lower lateral cartilage

Displacement of the caudal septum to Non-cleft side

Lateral, inferior, and posterior displacement of cleft side alar base

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MULTIDISCIPLINARY CARE OF CLEFT-RELATED ISSUES

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CLEFT MANAGEMENT

Multidisciplinary Approach

Medical management

Surgical management

Adjunctive treatments/therapies

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MULTIDISCIPLINARY CLEFT TEAM

Goals:

Convene regularly to evaluate & discuss patient/family needs

Coordinate multi-specialty care

Consolidate case loads to maintain expertise

Facilitate continuing education for all team members

Plan short & long-term patient management outcome measures

NICU

Pediatrics

ENT

DDS

SLP

Audiology

Reconstructive Surgery Genetics

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FEEDING THE CLEFT PATIENTWide complete clefts prevent seal on bottle or breast Inefficient suckling, tire more readily Swallow significant air Breast feeding feasible in CL only

Early SLP involvement

Special nipples and valve flow control systemMeade-Johnson Cleft Palate Feeder Pigeon Cleft Palate Nipple and Bottle Special Needs Feeder (Haberman Feeder)

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FEEDING DIFFICULTYModified Feeding Techniques Upright positioningMore frequent/aggressive burping Placement of nipple in buccal area of opposite cheek

Devices Palatal feeding prosthesis Syringe w rubber tubing Special Nipples/valve flow systems

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OTITIS MEDIA WITH EFFUSION – CLEFT PALATEConductive hearing loss Speech and language development

Eustachian Tube Dysfunction Eustachian Tube (ET) connects middle ear to nasopharynxDepends on proper function of both TVP and LVP musclesChildren have shorter ET oriented in a horizontal plane with smaller opening

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EAR DISEASE/EUSTACHIAN TUBE DYSFUNCTIONCleft children: Shorter ET compared to non-cleft children, and larger angle between cartilage & TVP Deformed ET cartilage with less elastin TVP and LVP muscles have less contractile tissue & more connective tissue

Results in more negative middle ear pressure which leads to fluid accumulation = middle ear effusion

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EAR DISEASE/EUSTACHIAN TUBE DYSFUNCTIONAll cleft palate patients have ETD Improves with palatoplasty, but functional obstruction still exists

70% of children with cleft palate obtain normal ET function 6-10 years after repair

Cleft patients are more likely to develop cholesteatoma due to retraction/ETD Prevalence of cholesteatoma in children with cleft palate 9.2% (compared to 6/100,000)

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SPEECH & LANGUAGE DEVELOPMENT

Considerations:Hearing LossVelopharyngeal dysfunctionDentition

Early Speech Therapy involvement Frequent monitoring/re-evaluation

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VELOPHARYNGEAL COMPETENCEDuring phonation, velopharyngeal closure contributes to oronasal resonance

Complete velopharyngeal closure requires coordination of soft palate (velum) movement with lateral & posterior pharyngeal walls

Velopharyngeal closure necessary for production of Consonant sounds

Nasal resonance of all sounds except nasal sounds /m/, /n/, /ng/

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ANATOMY OF VELOPHARYNGEAL COMPETENCEMuscles of palatal sling: LVP, TVP, palatoglossus, palatopharyngeus, musculus uvulae

Lateral and posterior pharyngeal movement: salpingopharyngeus and superior pharyngeal constrictors

Muscles innervated by pharyngeal plexus (CN IX and X) except for TVP (CN V)

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VELOPHARYNGEAL INSUFFICIENCYVPI = inability to close velopharyngeal sphincter Anatomic or structural deficit Nasal air escape and hypernasality during phonation

Hypernasality, nasal air emission (turbulence) during speech

Nasal regurgitation with deglutition, chronic rhinitis

Children will attempt to compensate to minimize nasal air escape Facial grimacing, hoarseness, low speech volume, compensatory misarticulations

SLP – document resonance, nasal air emission, consonant production errors, speech intelligibility, speech acceptability.

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VELOPHARYNGEAL INSUFFICIENCYEvaluate pharyngeal closure pattern and size of gap (nasal endoscopy) Coronal: movement of velum primarily responsible for velopharyngeal closure, little contribution from lateral pharyngeal walls

Sagittal: medial displacement of the lateral pharyngeal walls primarily responsible for closure, little posterior movement of velum

Circular: movement of velum and pharyngeal walls contribute to sphincteric or purse-string closure

Management Speech Therapy

Prosthetic devices (Obturator)

Augmentation of pharyngeal wall

Surgical Procedures

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HOARSENESSSome data suggests higher prevalence of hoarseness/ vocal cord pathology in cleft palate patients

Laryngeal compensation for velopharyngeal dysfunction

VPI compensatory mechanisms Attempt to overcome insufficient air pressure in oral cavity

Mechanisms include mid-dorsum palatal stops, posterior nasal fricatives, velar fricatives, pharyngeal stops, pharyngeal fricatives, and glottal stops.

Glottal stops implicated in VC abnormalities and voice disturbances/vocal strain

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AIRWAY ISSUES IN CLEFT PALATEHigher risk for upper airway obstruction, particularly in syndromal patients

Nasal obstruction due to deviation

PRS: Micro/Retrognathia, glossoptosis hypopharyngeal obstruction due to collapse of epiglottis & tongue base Prone positioning, nasal or oral airway

Lower threshold for airway endoscopy in syndromal children

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OSA

Normal pediatric OSA prevalence 2-3% 3-12% with primary snoring

Cleft palate children more likely to have Sleep Disordered Breathing SDB prevalence 22-65% OSA 8.5% (almost 3 x as likely as general peds pop)

Low threshold for Polysomnography (PSG) testing

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AIRWAY / OSAChildren may experience increase in airway obstruction at time of palatoplasty Decrease in functional airway space caused by closure of palate

Tongue may be more swollen due to retractor placement

Placement of nasal airway prior to extubation after palatoplasty may help

Some patients have worsening of OSA symptoms after cleft palate repair or after pharyngeal flap/VPI surgery

Role for mandibular distraction osteogenesis or tongue-lip adhesion in PRS. Also consider trach and g-tube, if necessary

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SURGICAL INTERVENTIONS11/20/2015

PRE-SURGICAL LIP TAPINGTiming: 0-4 months

Helps to narrow cleft distance in preparation for surgical repair Reduce tension for repair

May also help reposition pro-labium

Can be used alone or with Pre-surgical Orthopedics (PSO)

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PRE-SURGICAL LIP TAPING

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PRE-SURGICAL ORTHOPEDICS (PSO)Cleft Lip

Timing: starting at 2-4 weeks

Naso-Alveolar Molding (NAM)

Latham Device

Nasal Splints

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NAM

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LIP ADHESION

Timing: 2-4 weeks

Goal is to convert complete cleft lip to incomplete cleftAllows definitive surgical repair to be simpler and under less tensionCan delay definitive lip repair to allow for solidification of maxillary platform

May be used with or without use of orthopedic devices

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CLEFT LIP REPAIR

Timing: 2-3 months

Goals of Repair Reconstruct orbicularis oris muscleCamouflage scar Begin to restore nasal symmetry

Key StepsClosure of nasal floorApproximate orbicularis oris muscleClosure of lip and re-creation of philtrum

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POSTOPERATIVE CARENormal bottle or nipple feeding resumed on POD #1

Adhesive strips left on wounds for ~3 days

Soft arm restraints as appropriate

Wounds cleaned with dilute H2O2 and antibiotic ointment

Postop massage around 3 weeks for scar contracture

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TYMPANOSTOMY TUBE PLACEMENTTiming: 6 -12 months

In conjunction with palatoplasty

Indications: Conductive Hearing Loss (CHL)

Chronic Otitis Media with Effusion (COME)

Eustachian Tube Dysfunction (ETD)

Need for repeat sets of tubes May require T-tube placement

Long term sequelae (cholesteatoma)

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CLEFT PALATE REPAIR

Timing: 9-14 months

Goals of Repair Separation of nasal & oral cavitiesCreation of competent velopharyngeal valve for swallowing & speech Preservation of midface growthDevelopment of functional occlusion

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PALATOPLASTY

Objectives Layered closure with minimal tension Reconstruction of the levator sling

Palatoplasty techniques Primary veloplasty (Schweckendiek) Bipedicled flap palatoplasty (von Langenbeck) V-Y pushback palatoplasty Two-flap palatoplasty Furlow (double-opposing Z-plasty)

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VPI SURGERY

Timing: 3-5 years

Pharyngeal flap Large central gap with sagittal closure pattern and adequate lateral wall movement

Goal is to create central obstruction to allow lateral pharyngeal walls close against flap, and allow residual nasal airflow to pass through lateral ports.

Furlow double-opposing Z-plasty palatoplasty Small central gap with notched soft palate (indicates malposition of levator veli palatini)

Sphincter pharyngoplasty Coronal closure pattern

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PHARYNGEAL FLAP

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PHARYNGEAL FLAP

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SPHINCTER PHARYNGOPLASTY

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CLEFT RHINOPLASTY

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CLEFT RHINOPLASTY

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CLEFT RHINOPLASTY

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TIMING OF THERAPEUTIC PROCEDURES

Lip Adhesion: 2-4 weeks

PSO/NAM: 2-4 weeks

Cleft Lip Repair: 2-3 months

PE Tube placement: 6 -12 months

Cleft Palate Repair: 10-14 months

Correction of VPI: 3-5 years

Intermediate rhinoplasty: 3-5 years

Orthodontia: 6-12 years

Alveolar bone grafting: 8-12 years

Definitive Septorhinoplasty: post-adolescence

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TIMELINEPrenatal

• Refer to Cleft team• Genetic counseling

Neonatal (0-1mo)

• Same as above • Feeding instructions, monitor growth• Hearing screen• PSO if appropriate

1-4 months

• Monitor feeding & growth• Cleft Lip repair• Monitor ears/hearing

5-15 months

• Monitor feeding, growth, & development• Cleft Palate repair• Monitor ears/hearing – PE tubes

16-24 months

• Assess speech & language• Monitor ears/hearing – PE tubes• Monitor development

2-5 years

• Monitor speech & language; manage VPI• Consider lip/nose revision prior to school• Monitor ears/hearing• Assess development/psychosocial needs

6-11 years

• Monitor speech & language; manage VPI• Orthodontics (+/- alveolar bone grafting)• Monitor school & psychosocial needs

12-21 years

• Monitor school & psychosocial needs• Orthodontics + restorative dentistry• Rhinoplasty (if needed)• Orthognathic surgery (if needed)

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REFERENCESBardach J. Salyer & Bardach’s Atlas of Craniofacial & Cleft Surgery. Volume II. Chapters 11 and 12 (Primary Unilateral Clef-Lip/Nose Repair, Correction of Secondary Unilateral Cleft-Lip and nasal Deformities)

Clark JM, Skoner JM, Wang TD. Repair of the unilateral cleft lip/nose deformity. Facial Plastic Surgery. 2003; 19(1):29-39.

Flint et al. Cumming’s Otolaryngology. 6th ed. 2015. Chapters 187 and 188. (Cleft Lip & Palate, Velopharyngeal Dysfunction)

Gart MS, Gosain AK. Surgical management of velopharyngeal insufficiency. Clinics in plastic surgery. 2014 Apr: 41(2):253-70.

Grayson BH, Maull D. Nasoalveolar molding for infants born with clefts of the lip, alveolus, and palate. Clinics in Plastic Surgery. 2004 Apr; 31(2):149-58.

Hogan VM. A clarification of the surgical goals in cleft palate speech and the introduction of the lateral port control (l.p.c) pharyngeal flap. The Cleft Palate Journal. 1973 Oct; 10:331-45.

Johnson JT, Rosen CA, Bailey BJ. Bailey’s Head & Neck Surgery – Otolaryngology. 5th ed. 2014. Ch. 103 and 107 (Comprehensive Cleft Care, The Syndromal Child)

Jones LR, Tatum SA. Pearls for aesthetic reconstruction of cleft lip and nose defects. Facial Plastic Surgery. 2008 Jan; 24(1):146-51.

Setabutr D, Roth CT, Nolen DD, Cervenka B, Sykes JM, Senders CW, Tollefson TT. Revision rates and speech outcomes following pharyngeal flap surgery for velopharyngeal insufficiency. JAMA Facial Plastic Surgery. 2015 May-Jun; 17(3): 197-201.

Sie KCY, Chen EY. Management of Velopharyngeal Insufficiency: Development of a protocol and modifications of sphincter pharyngoplasty. Facial Plastic Surgery. 2007; 23(2):128-39.

Sykes JM, Tollefson TT. Management of the cleft lip deformity. Facial Plastic Surgery Clinics of North America. 2005 Feb; 13(1):157-67.

Tewfik TL. Cleft Lip and Palate and Mouth and Pharynx Deformities. Medscape. April 2015. http://emedicine.medscape.com/article/837347-overview

Van Aalst JA, Kolappa KK, Sadove M. MOC-PSSM CME article: Nonsyndromic cleft palate. Plastic and Reconstructive Surgery. 2008 Jan; 121:1-14.

Photo credits:

Brackmann DE et al. Otologic surgery. 3rd ed. 2010. Chapter 6 (Surgery of Ventilation and Mucosal Disease)

Kanishiro NK. Eustachian Tube. Medline. May 2015. https://www.nlm.nih.gov/medlineplus/ency/imagepages/19596.htm11/20/2015