Cleft Lip and Palate. February 21, February 28, /17/2015
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1 Cleft Lip and Palate Dianne M. Altuna, M.S./CCC-SLP Region X ESC November 20, 2015 paltuna@aol.com February 21, 2014 Diagnosis/Types Common craniofacial syndromes associated with cleft lip and/or palate Feeding Surgical Timelines Orthodontic treatment ENT treatment February 28, 2014 Velopharyngeal Dysfunction Compensatory Articulation Language development and disorders VCFS/22q11.2 deletion syndrome 1
2 Diagnosis/Types of Cleft No one type of cleft No typical cleft Using term cleft does not describe structures involved Isolated cleft as compared to cleft as a part of a larger diagnosis. Continuum of Clefting Cleft Lip Only Cleft Palate Only Cleft Lip and/or Palate Velopharyngeal Dysfunction Unilateral Bilateral Complete Incomplete LAHSHAL L=Lip A=Alveolus H=Hard Palate S=Soft Palate Cleft Description Allows for description of laterality and structures e.g. Unilateral CL+P= LAHS Bilateral CL+P= LAHSHAL 2
3 CLEFT LIP +/- Alveolus Cleft Lip +/- Alveolus 25% may also present with submucous cleft palate CLEFT LIP + PALATE 3
4 CLEFT PALATE Cleft of the hard and soft palate Cleft of the soft palate Submucous cleft palate Pierre robin sequence Not a syndrome, sequence of events PIERRE ROBIN SYNDROME 4
5 Pierre Robin Sequence Not a Syndrome Sequence due to developmental error Orofacial Findings Cleft Palate Micrognathia Glossoptosis Pierre Robin Sequence Individual may be diagnosed with a syndrome Heart Vision Kidney Pierre Robin Mandibular Micrognathia Cleft Palate Glossoptosis Breathing vs. Feeding Decreased O2 when on back, side Decreased O2 when feeding 5
6 Pierre Robin Once Mandible Distracted If feeding disorder (pharyngeal phase) continues Not Cleft Palate Not Mandibular Micrognathia Heart? Pharyngeal Hypotonicity? Neural Base Deficit? VELOPHARYNGEAL Dysfunction No history of cleft palate No history of submucous cleft palate FEEDING 6
7 Possible Feeding Disorder Cleft Lip or Cleft Lip and Alveolus Difficulty with complete labial seal CAN breastfeed Pinch lip around breast Possible Feeding Disorder Cleft Lip and Palate Difficulty with complete labial seal Difficulty with stripping the nipple CAN NOT breastfeed Will need special bottle/nipple Encourage Mom to pump and present breastmilk Possible Feeding Disorder Cleft Palate Only Difficulty with stripping the nipple CAN NOT breastfeed Will need special bottle/nipple Encourage Mom to pump and present breastmilk 7
8 IF THERE ARE FEEDING ISSUES It is not the Cleft Oral Phase Pharyngeal Phase Mead Johnson Mead Johnson Cleft Palate Nurser Long soft nipple with cross cut on end Flexible/squeezable bottle Difficult to monitor exactly how much the baby takes Pigeon nipple Volume feeder (2 ounce bottle) Soft nipple on one side, this side goes on tongue One way valve to decrease amount of air intake Baby is doing the work Volume feeder allows measurement to the ml Pigeon Nipple 8
9 Haberman Feeding Systeim Long soft nipple End allows for family to squeeze to increase flow of formula/breastmilk Allows for measurement Passive feeding system Coughing, Choking If suspect a pharyngeal phase swallow impairment, this is not due to the cleft, rather suggestive of neurological disorder. Genetics of Clefting 9
10 GENETICS Chromosome Abnormality Entire chromosomes, or large segments of chromsomes are missing, duplicated or altered Multifactorial Disorder Combination of multiple genetic and possible environmental causes. GENETICS Multiple Genes Some gene mutation for clefting (5-6 genes) Multiple Genetic Messages Decreased proiferation of cells Decreased movement of process Timing Heterogenity Not all the same causes for the defect GENETICS Chromosome Abnormality Down Syndrome 1/700-1/1,000 Trisomy 18 1/6000 Multifactorial Disorder CL+/-P 1/500-1/1,000 Club Foot 1/1,000 Neural Tube Defect 1/200-1/1,000 10
11 GENETICS Autosomal Dominant Vertical transmission of disease Lack of skipped generations Equal numbers of affected males and females 50% recurrence risk for each pregnancy VCFS, Stickler s, Treacher- Collins, Apert s Autosomal Recessive Clustering of disease among siblings Disease not usually seen among parents or other ancestors Equal number of affected males and females 25% recurrence risk for each pregnancy GENETICS NEW MUTATION Child presents with genetic disease No history in family Gene transmitted by one parent underwent a change in DNA with the result a mutation Recurrence risk for parents (as long as they do not have genetic disease) is not elevated Recurrence risk for child becomes 50% INICDENCE Cleft Lip and Cleft Palate 45% of cases Cleft Palate Only 30% of cases Cleft Lip Only 25% of cases 11
12 INICDENCE Cleft Lip and Cleft Palate UCLP 70% on left side BCLP 25% of CL+P cases Cleft Palate Only 2:1 female:male ratio for complete cleft of hard and soft palates 1:1 female:male ration for cleft of soft palate SMCP Greater than 50% in males INICDENCE Epidemiology American Indians 3.6/1,000 live births Japanese 2.1/1,000 births Chinese 1.7/1,000 births African American 0.3/1,000 births Caucasian 1/1,000 live births SMCP in Caucasian at 1/80 individuals ASSOCIATED ANOMALIES 44-64% have associated anomalies CPO 13-50% CL 7-13% CLP 2-11% BCLP > UCLP 12
13 GENDER DIFFERENCES IN CLEFT PALATE Cleft Lip +/- Palate more prevalent in males than females Cleft Palate Only more prevalent in females than males MALE CLEFT PALATE ONLY Increase risk of other congenital deficits. Increase risk of syndromic involvement THINK GENETICS Symmetry Function Form 13
14 Craniofacial syndromes that include cleft lip +/- Palate or velopharyngeal dysfunction 22q11.2 Deletion syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome Most prevalent/undiagnosed craniofacial syndrome involving articulation/resonance disorders. Many times in cases with no history of cleft palate F.I.S.H. study Microarray study Diagnosis 14
15 STICKLER S SYNDROME Under diagnosed craniofacial syndrome in individuals with a history of cleft palate. Includes high myopia. May also be seen in individuals with no history of cleft palate Van Der Woude Syndrome Cleft with lip pits Van Der Woude Syndrome Autosomal Dominant Cleft Lip +/- Cleft Palate Lip Pits High Frequency Hearing Loss Normal cognition Expressive and Receptive Language Delays Articulation Disorder Resonance Disorder 15
16 Treacher Collins Syndrome Treacher Collins Syndrome Austosomal Dominant Downslanting palpebral fissures Colobomas of lower eyelids Microtia Hypoplastic zygoma Mandibular micrognathia Cleft Palate Normal Cognition Hearing Impairment Expressive and Receptive Language Delays Articulation Errors Resonance Disorder Apert s syndrome 16
17 Apert s Syndrome Autosomal Dominant Craniosynostosis Midface Hypoplasia Hypertelorism Proptotic Eyes Syndactyly Cleft Palate Below normal cognition Expressive and Receptive Language Delays Articulation Disorder Resonance Disorder Crouzon s syndrome Crouzon s Syndrome Autosomal Dominant Craniosynostosis Midface Hypoplasia Hypertelorism Proptotic Eyes Cleft Palate Normal cognition Expressive and Receptive Language Delays Articulation Disorder Resonance Disorder 17
18 Hemifacial microsomia Oculo-Auriculo-vertebral spectrum Hemifacial Microsomia/ Oculo-auriculo-vertebral Spectrum Sporadic Facial Asymmetry Ear defects Cleft Lip +/- Palate Normal cognition Hearing Impairment Expressive and Receptive Language Delays Articulation Disorder Resonance Disorder Surgery timing and reasons 18
19 Cleft Lip +/- Palate Surgery Gold Standard Lip Palate Lip/Nose Revision Alveolar Bone Graft Additional PE tubes Fistula repair Pharyngeal Flap/Secondary velopharyngeal management Final rhinoplasty Midface advancement Cleft Palate Only Gold Stanard Additional Palate Repair PE tubes as needed Surgical management of velopharyngeal dysfunction Newborn Period 19
20 Pierre Robin Mandibular Micrognathia Cleft Palate Glossoptosis Breathing vs. Feeding Decreased O2 when on back, side Decreased O2 when feeding Pierre Robin Once Mandible Distracted If feeding disorder (pharyngeal phase) continues Not Cleft Palate Not Mandibular Micrognathia Heart? Pharyngeal Hypotonicity? Neural Base Deficit? Pierre Robin Mandibular Distraction Done at time of need Illazarov principle Distraction Osteogenesis Induction of new bone between surfaces that are gradually pulled apart Originally used in long bones 20
21 Pierre Robin Illazarov principle Distraction Osteogenesis Induction of new bone between surfaces that are gradually pulled apart Originally used in long bones Pierre Robin Cuts in mandible Placement of distraction hardware 3 months of consolidation Removed 3 months later Prior to Cleft Lip Surgery Nasal Alveolar Molding (NAM) Allows for set up of segments for surgery Allows for molding of nasal defect through use of Maternal Estrogen Will NOT change feeding: Only covers hard palate, so residual cleft of soft palate Allows for a place for the nipple to approximate Will not change pharyngeal/neurological deficits Property of Dianne Altuna 21
22 Cleft Lip repair Cleft Lip Surgery Purpose Reconstruct lip Correct nasal deformity Rule of 10 s 10 weeks old 10 pounds Hemoglobin of 10 Part of Treatment Cleft Lip Cleft Lip and Alveolus Unilateral or Bilateral Property of Dianne Altuna Cleft Lip Surgery Multiple Surgical Techniques Best results are due to Surgeon s skill Rotation-Advancement (Millard) Tennison (triangular flap) Property of Dianne Altuna 22
23 Cleft Lip Surgery Challenges for Cleft Lip Repair Cleft Type Unilateral/Bilateral/Lip/Alveolus Cleft Width > than 1 centimeter between segments Position of Maxillary Segments Number of segments Position of segments Congenital Dysmorphogenesis Hypoplasia of soft and hard tissue Property of Dianne Altuna Cleft Palate Surgery Purpose Provide functioning palate for speech development Decrease impact on maxillary growth Part of Treatment Cleft Lip + Palate Cleft Hard and Soft Palate Cleft Soft Palate Property of Dianne Altuna Cleft Palate Surgery Multiple Surgical Techniques Furlow Palatoplasty Double opposing Z plasty Lengthens and reorients muscle 2 Flap Palatoplasty Close Cleft Construct adequate function of velum Wardill-Kilmer/Pushback Lengthen the velum Property of Dianne Altuna 23
24 Cleft Palate Surgery Surgical Timing Issues 4 Surgeons 1 Surgeon Complete repair of Hard and Soft Palate at 9-12 months of age 3 Surgeons Intravelar Velarplasty at 3 months of age Palatoplasty at 18 months of age Property of Dianne Altuna Cleft Palate Surgery Type of cleft palate Unilateral alveolus;soft;hard and soft Severity of cleft palate Extent and shape of cleft Position of maxillary segments Multiple segments Position of premaxilla and nasal septum Bilateral complete cleft lip and palate Width of cleft Increased vertical inclination leads to increased width Property of Dianne Altuna Lip/Nose Revision Purpose Provide child with functional and aesthetically normal lip and nose anatomy Property of Dianne Altuna 24
25 Lip/Nose Revision Age Approximately 4-6 years of age Prior to onset of school Property of Dianne Altuna Lip/Nose Revision Lip Revision Cupid s bow Columella lengthening Nose Revision Cartilage revision Property of Dianne Altuna Alveolar Bone Graft Purpose Provide continuity to maxillary arch Provide alveolar bone growth to support erupting teeth Provide hard tissue support of upper lip Property of Dianne Altuna 25
26 Orthodontic Treatment Primary Dentition Evaluate for tooth loss/eruption Dental hygiene Orthodontic Management 5-9 years of age Mixed Dentition Assessment of dental age Anterior crossbite Collapse of affected segments Orthodontic Management 5-9 years of age Begin Orthodontic Treatment Palatal Expansion 26
27 Orthodontic Management Palatal Expansion RPE (Rapid Palatal Expansion) Take advantage of maxillary sutures Widen maxillary arch Increase alveolar cleft for surgery Orthodontic Management 5-9 years of age Mixed Dentition Bone Graft Illiac crest Continuity of alveolar ridge Bony support for lip and nose Close remaining alveolar cleft Alveolar Bone Graft Age Dependent upon Dental Development Eruption of canine 7-10 years of age Property of Dianne Altuna 27
28 Orthodontic Management 5-9 years of age Mixed Dentition Assessment of dental age Anterior crossbite Collapse of affected segments Orthodontic Management 5-9 years of age Mixed Dentition Begin Orthodontic Treatment Palatal Expansion Orthodontic Management 5-9 years of age Mixed Dentition Pre Alveolar Bone Graft Illiac crest Continuity of alveolar ridge Bony support for lip and nose Close remaining alveolar cleft 28
29 Orthodontic Management 5-9 years of age Mixed Dentition Pre Alveolar Bone Graft Illiac crest Continuity of alveolar ridge Bony support for lip and nose Close remaining alveolar cleft Cleft Lip and Palate Additional Surgeries Property of Dianne Altuna Placement of PE tubes May be recurrent/ongoing as needed Increased prevalence of otitis media due to cleft palate, abnormal muscle insertion and function Lip Palate As needed Property of Dianne Altuna 29
30 Fistula Repair Fistula versus Alveolar Cleft Fistula Denotes surgical complication hole posterior to incisive foramen Alveolar Cleft Present until alveolar bone graft hole anterior to incisive foramen Property of Dianne Altuna Pharyngeal Flap/Secondary surgical management for VPI Not required in all cases (20%) Multiple approaches Assessment prior Nasopharyngoscopy evaluation Videoflourographic evaluation Property of Dianne Altuna Midface Advancement Midface Hypoplasia Late teens Growth Property of Dianne Altuna 30
31 Velopharyngeal Dysfunction And resonance disorders VELOPHARYNGEAL ANATOMY THE VELOPHARYNX Intersection Velum Posterior Pharyngeal Wall Lateral Pharyngeal Walls 31
32 Velar Muscles Levator Veli Palatini Muscle Musculus Uvulae Tensor Veli Palatini Muscle Palatoglossus Muscle Palatophayrngeus Muscle Pharyngeal Muscles Superior Pharyngeal Constrictor Middle Pharyngeal Constrictor Inferior Pharyngeal Constrictor Thyropharyngeus Muscle Salpingopharyngeus Muscle Stylopharyngeus Muscle Neurological Input Cranial Nerves V IX X XI Cranial Nerve X Important for Pharyngeal Phase of Swallow 32
33 VELOPHARYNGEAL FUNCTION VELOPHARYNGEAL FUNCTION Swallow Reflexive, Brisk If not achieved, results in nasal regurgitation Nasal regurgitation is a neurological event Pharyngeal flap will not assist with nasal regurgitation Speech Speech is a dynamic process of opening and closing of the velopharynx Speech is NOT STATIC Blowing exercisess WILL NOT strengthen the velopharynx Blowing exercises WILL NOT assist velopharyngeal function VELOPHARYNGEAL FUNCTION Velopharyngeal closure during swallow is reflexive THEREFORE Velophayrngeal closure during swallow does not mean velopharyngeal closure during speech 33
34 VELOPHARYNGEAL FUNCTION Speech Velopharyngeal closure is required for all sounds with the exception of /m,n,ng/ Feel the difference /m/ /b/ VELOPHARYNGEAL FUNCTION Plosives Air is stopped and then released within the oral cavity Bilabials /p,b/ Tongue Tip Alveolar /t,d/ Velar /k,g/ Sibilants Airstream is maintained over time with fine motor control of tongue for direction of air /s,z/ Affricates Air is stopped, then maintenance of airstream /ch, j/ Fricatives Airstream is maintained over time with fine motor control of oral ariculators Upper teeth on lower lip /f,v/ Rounded lips/tongue placement /sh/ Tongue between teeth /th/ VELOPHARYNGEAL FUNCTION Velopharynx Closed Plosives Affricates Sibilants Fricatives All Vowels Velopharynx Open Nasals 34
35 VELOPHARYNGEAL FUNCTION Imagine the phrase P U M P K I N P I E VELOPHARYNGEAL DYSFUNCTION An inability of the Velum, Lateral Pharyngeal Walls and Posterior Pharyngeal Wall to make closure for any reason during speech and/or swallow VELOPHARYNGEAL DYSFUCNTION Velopharyngeal dysfunction can be due to: A. Velopharyngeal Mislearning i.e. Phoneme Specific Nasal Air Emission B. Velopharyngeal Incomptency i.e. apraxia, neurological deficit C. Velopharyngeal Insufficency i.e. Anatomical deficit 35
36 RESONANCE RESONANCE Resonance The coupling and uncoupling of the oral and nasal cavities, controlled by the raising and lowering of the velum ABNORMAL RESONANCE Hypernasality Too much nasal airflow; carried on vowels Hyponasality Too little nasal airflow Cul-de-sac Resonance A combination of hyper and hyponasality Nasal Air Emission Bursts of air noted on consonants 36
37 RESONANCE Hyponasal Hypernasal VP Port is closed when it should be open Stuffy Cold Allergies Normal VP Port is open when it should be closed Cleft Palate Speech 37
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