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Class intro, development, embryology...

Terms in this set (240)

Goals
-Provide an introduction to the management of patients with cleft and craniofacial anomalies and pediatric feeding and swallowing
-Understand the need for both medical and behavioral management
-Become familiar with speech and communication disorders common to the cleft and craniofacial patient
-Demonstrate an understanding of the evaluation and habilitation of structurally related speech disorders
-Become familiar with management of feeding and swallowing issues
-Practice techniques for speech & swallowing evaluation and treatment utilized in the pediatric population
Craniofacial Anomalies
"Congenital, developmental, or acquired deformities of the cranial and/or facial skeleton - perhaps accompanied by associated soft tissue anomalies."

-congenital = born with it
-developmental = progresses over time
Development and Embryology
...
What is a cleft?
-A cleft is a failure of the anatomical structures of the lip, premaxilla, palate or face to fuse during the appropriate point of embryonic and fetal development

-Considered a congenital anomaly

-Clefts develop during the late embryonic and early fetal development periods (5th to 12th weeks post-conception)
-early in the first trimester
-can't change it once it happens
CF Clefts: Tessier Classification
-numbered like spokes of a wheel

orbit as center
0-7 facial clefts
9-14 cranial clefts
8 = equator

-they can be clefts everywhere
-can involve bone, tissue, or combination of both

-many of those with midline cleft deficits: often heart or brain issues
-macrostomia: number 7 (joker-type face)
CF Clefts: Etiology
1. Classic Theory: failure fusion facial processes
-they just don't fuse

2. Modern Theory: mesodermal penetration theory
-sticky cells and tissue
-either they don't develop fully enough or do not stick for a reason

3. genetics/heredity: TCS
-treacher collin syndrome (missing zygomatic arches)

4. environmental: radiation, infection (toxo), drugs (Accutane, thalidomide, seizure)
-smoking, second-hand smoke
-opioids

5. in utero: amniotic bands
-scar-bands in the mom's uterus
-bands wrap around them and block their circulation
-don't know what causes this
Embryology
-Branchial Apparatus (soft tissue with arches) develops at the 4th week of embryonic development

-Primitive grooves and arches are evident and paired with right and left sides and a midline depression
-opening in middle that will be the mouth
-top is frontonasal process

-These primitive structures give rise to development of upper and lower jaws, ears, mouth and anterior neck
-important for speech, facial appearance, and function
Embryology cont.
-Four pairs of branchial arches are visible by the 5th week of embryological development

-1st = Mandibular arch consisting of the mandibular and maxillary processes
-mandible and maxilla

-2nd = Hyoid arch (tongue, voice box, upper trachea)

-3rd & 4th designated by # only
...
beginning of development

-at the top = frontonasal process
-nasal placodes will become nostrils
-stomedeum will be the mouth
Branchial Arches
-Each contains an artery, cartilaginous material, muscular material and a nerve growing from the rudimentary forebrain (out of frontonasal process to both sides)

-Neural crest cells travel to the branchial arches and form mesenchyme (primitive connective tissue)
-skin, muscles, tendons, etc.

-Neural crest cells also travel from the forebrain over the cranial portion of the embryo to form the frontonasal process
...
Embryology cont..
-Nasal and cheek structures emerge from the frontonasal process

-Mesenchyme developed from the migrating neural crest cells forms the bone and soft tissue of the developing facial structures

-Frontonasal processes develop just above the primitive mouth or Stomodeum and are paired surrounding the nasal pits both medially and laterally
-rotate in as the fetus develops
...
Embryology cont. final
-The lateral boundaries of the developing mouth consist of the maxillary processes of the 1st branchial arch

-The lower boundary is formed by the paired mandibular processes
...
Fusion of facial and palatal structures
-Paired facial and palatal processes are covered with epithelial cells (skin)

-The epithelial cells adhere to each other as the 2 paired structural counterparts grow together and merge (supposed to form at specific anatomical places)

-The epithelial cells then breakdown and a mesenchymal (connective tissue) fusion develops and subsequently consolidates to fuse the structures
Primary palate development (upper lip, premaxilla)

-premaxilla (triangular piece of bone by 4 upper teeth)
-Occurs at approximately 6 weeks post conception

-The median and lateral nasal processes and paired maxillary prominences fuse

-The nasal septum migrates inferiorly and fuses with the hard palate and separates the 2 nostrils
-palatal shells with fuse against it

-The primary palate consists of the middle 2/3rds of the upper lip and anterior portion of the maxilla to the incisive foramen

-The anterior portion of lip is the prolabium and the triangular anterior segment of the maxilla is the premaxilla
Development of face
...
Median nasal processes coalesce in midline
Maxillary processes coalesce
-they all fuse to create the alveolus (the gummy ridge)
-philtrum (in middle of lips)

-by 7 weeks, face is nearly developed
-by 8 weeks, fused and cartilages are together
-when they fail to fuse, there is a disruption with a cleft
Secondary palate development (hard and soft palate)
-Fusion occurs between 10 and 12 weeks gestation

-Fusion occurs on multiple levels involving the palatine processes of the paired maxillary processes
-palatine bones grow off the maxillary processes to form the hard palate
-hard palate fuses from the front to the back (from premaxilla)
-at the same time, nasal septum fuses along midline suture of hard palate

-Anterior fusion at the premaxillary segment of the primary palate (incisive foramen)

-Superior fusion with the nasal septum and vomer
Secondary palate development cont.
-Fusion occurs anterior to posterior with the palatal processes/shelves migrating upward and medially above and across the tongue

-Above the tongue is important
-If large tongue, can impact

-Soft palate portion is thought to be due to a remodeling of tissue which grows distally and medially
Development of palate pic
Fusion and merging of palatal shelves pic
Facial Prominences (important)
Mandibular Prominence

Maxillary Prominence
lateral palatine process = secondary palate (hard and soft palate)

Frontonasal Prominence
1. medial nasal process
2. lateral nasal process
3. medial palatine process = primary palate
-turn into that cartilaginous structure of the tip of your nose
Clefts of the primary palate
-Arise from incomplete fusion of the lateral and medial nasal processes and the maxillary processes

-Thought to be due to aberrant timing of their corresponding growth and merging or disruption of the fusion process
Clefts of the secondary palate
-Results from incomplete fusion of the maxillary arches and palatine processes

-Many theories as to the etiology of cleft palate many of which involve physical disruption of medial growth of the palatine processes due to tongue and mandibular positioning
Theories of Non-Syndromic Cleft Etiology (no genetic reason for child to have it - don't have any other)
-Physical disruption of fusion including fetal positioning, tongue and mandible positioning

-Environmental factors including teratogens such as anticonvulsants, acne medications, smoking, alcohol and pesticides.
-seizures, radiation, amniotic bands
*folic acid supplementation appears to have protective effects on the developing fetus and lowers the risk of neural tube defects**
Cleft etiology cont..
-Major Gene theories: Some researchers hypothesize that a single gene (likely recessive) may be abnormal resulting in cleft occurrence

-No single gene has been identified to date that results in non-syndromic cleft lip +/- palate though several candidate genes are suspected

-The fact that clefts tend to run in families supports this supposition as does the finding that non-syndromic autosomal dominant clefts have been identified in selected families

-Someone in family has cleft, 50% offspring have a cleft even though they can't identify condition
Multifactorial Inheritance Model (know this)
-Most widely accepted and adopted theory of non-syndromic clefting

-Postulates that there is a threshold that is met with a combination of environmental and genetic predisposing factors that must be met for a cleft to occur

-The genetic and environmental factors interact to push the fetus past this threshold

-all of these things result in crossing the threshold and the baby has a cleft
Syndromic Clefting
-Clefts of the lip +/- palate are associated with over 400+ different known genetic syndromes

-Frequently associated with other physical findings (multi-anomaly disorders)

-Associated with chromosomal disorders such as Down Syndrome Trisomy 21 or single gene disorders (more common cause) such as 22q 11.2 deletion
-about 8 to 10% of clefts has this condition
-neonatal feeding problems, in speech from the get-go
INCIDENCE OF CLEFT LIP AND PALATE (need to know)
-1 In 598 Newborns is affected by cleft lip and/or cleft palate in the United States each year

-Approximately half of these infants have associated malformations occurring with the cleft
-likely syndromic

-Clefting is associated with over 400 different syndromes
Prevalence of clefting
1. Asians and Mongolians have a higher prevalence of clefting than Caucasians - essentially twice the frequency - ~1/500

2. Caucasians are twice as likely as African Americans to develop clefts ~ 1/1000 vs. ~1/2000

3. American Indians are thought to have Mongolian racial background and the frequency of clefting is the same as that group ~ 1/500

**Keep in mind - prevalence rates vary greatly between studies**
-pacific islands (higher)
Gender Differences
-Males have a higher incidence of cleft lip +/- palate
-unilateral cleft lip and palate is both common, specifically left

-Females have higher incidence of cleft palate only
-of secondary palate

-There is a virtual 1:1 ratio of male vs. female in incomplete clefts of the soft palate only and submucosal type clefts
PREVALENCE OF CLEFT TYPES
-Cleft Palate is present in 80 - 90% of cleft population

-50% have unilateral clefts affecting the lip, alveolus, and palate (Left>Right)

-25% have isolated cleft palate.

-10 - 15% have bilateral cleft lip, alveolus and palate

-10 - 20% have cleft lip + alveolus

-cleft lip only is the least frequent occurrence
Veau Classification System
1. cleft of soft palate only

2. soft palate and any part of hard palate

3. unilateral cleft palate associated with cleft alveolus/lip on same side

4. bilateral cleft palate with bilateral lip

-complete: entire structure
-incomplete: not entire area
Right Incomplete Cleft Lip
-there is skin under the nose
-still a connection between lateral lip and philtrum

-their nasal cartilage didn't make it all the way
-muscles and skins of the face didn't fuse completely
Incomplete Left Unilateral Cleft Lip
-one side of lip didn't complete
Bilateral Incomplete Cleft Lip
-most rare
-skin under the nose
-lip is clefted on both sides
Bilateral Incomplete Lip
-length of coleuma is short
-didn't rotate enough
Left Cleft lip and palate - complete
no connection of skin under the nose

-palate is open

-endotracheal tube
Bilateral Complete Lip & Palate
-protrusive premaxilla

-primary palate attached to tip of nose
Cleft of hard and soft palate
-obturator to fill this
Bilateral complete lip and palate
-only one side is complete
-palate is cleft bilateral
-tiny bit of skin on right side
...
left unilateral complete lip and palate
...
left unilateral complete lip and palate
...
-cleft palate complete (cleft of hard and soft palate)
...
-incomplete cleft palate (cleft of the soft palate)
...
-unilateral cleft lip and alveolus
-primary palate cleft

-macrostomia (7 on spoke)

-multianomly clefting
...
-premaxilla
-vomer
-bilateral
...
complete alveolar cleft, bilateral complete cleft lip and palate

-premaxilla is rotated to the left
...
incomplete cleft palate (soft palate only)
Genetics in Clefting
-ear tags: accessory tragus
-lateral facial cleft makes mouth larger = macrostomia
Genetics
-Coined by Darwin "Biological material is passed on from parents to offspring leading to the presence of inherited physical traits"

-Includes both physical and behavioral traits
-both included
-personality, speech and language, etc
Direct Effects of Genes
-A gene or genetic material has direct action on the developing embryo and fetus
-action on developing cells

-Affects its development or biochemical make-up directly

-The gene causes the disorder directly
-e.g., trisomy 21
Indirect Genetic Influences
-The gene influence is on one particular body system or structure

-The malformed or malfunctioning structure or organ secondarily causes a condition (cascade effect)

-Example: Pierre Robin sequence - genetic predisposition to small jaw or micrognathia is primary

-Cleft palate and glossoptosis are secondarily caused by the micrognathia

-Stickler's: micrognathia = airway obstruction, cleft lip and palate
-gene on mandible but affects airway and palate
Why be concerned about Genetics?
-Allows the professional treating the patient to focus their treatment more accurately

-Will be able to counsel the patient and family regarding prognosis and focused steps of treatment based on the "phenotype and natural history" of the genetic condition

-need to know for appropriate eval and treatment
-syndrome = know outcome better (natural history)
-help better with treatment and diagnosis
What is a phenotype?
-The physical and behavioral characteristics of an individual

-Phenotypic Spectrum: Refers to all possible anomalies that are known to occur in association with a given syndrome or condition

-All anomalies are not present in all persons with the condition due to "variable expression"
-not all characteristics expressed, spectrum is all the possibilities
Variable Expression
-Expression of physical traits and behavioral characteristics are highly variable

-Severity of conditions and anomalies may vary from mild to severe across affected individuals

-All traits of an inherited condition are not present in all individuals with the condition
Natural History
-Information available regarding specific conditions and how they evolve over time

-Can provide an affected individual with predictions of what lies ahead in development and treatment of their specific condition
Recurrence Risk
Utilizes Mendelian inheritance theory and probability to calculate the relative risk of inheriting or passing on a specific gene, physical trait or condition
Relative recurrence risk for cleft (nonsyndromic)
-There is a 1/1000 risk in general for a child to be born with a cleft if no other family members or 1st and 2nd degree relatives are affected

-There is a 3 - 5% recurrence risk if there are no other affected 1st or 2nd degree family members or relatives

-15 - 20% recurrence risk if there is 1 affected family member or 1st or 2nd degree relative
Major Multi-Anomaly Disorders Associated with Cleft
...
Craniofacial Clefts
...
Rare craniofacial clefts
-some disturbance (usually animotic)
-incidence: 3.5 per 100,00 kids
0-14 Cleft
-hypertelerism (eyes fall apart)
-hypotelerism (eyes farther apart)
Frontonasal dysplasia
Is median-cleft face syndrome consisting of range of midline facial defects involving the eyes, forehead and nose.

-dermoid, cleft of eyelid
-usually normally developing
1-13 Cleft
...
2-12 Cleft
above where the eyes are, eyes did not develop right
-cleft of palate
3-11 Cleft
-involves eyelid
-missing nasal lacrimal duct
-cleft is outside
4-10 Cleft
-brain pouching out
-orbital is clefted
5-9 Cleft
-face, lip, eyelid, involves cheekbone
Velocardiofacial Syndrome
-The most frequently appearing syndrome associated with over and submucous clefts

-Also referred to as Shprintzen syndrome, DiGeorge or partial DiGeorge syndrome

-Can be identified with blood work called Fluorescent Insituo Hybridization (FISH) of the long arm of chromosome 22. Locus 22q11.2

-deletion on 2nd chromosome on q arm at 11.2 low side
Velocardiofacial Syndrome (22q.11.2)
DiGeorge
Conotruncal Anomaly
Sphrinzten
8% CP patients

-thick hair
-cupped ears
-broad nasal root
-downturned mouth (reduced mid facial tone)
-sometimes discoloration between eyes
-smaller mandible
Major Features of VCFS
-Autosomal Dominant condition: 50% recurrence risk to siblings and offspring

-Vertically log face with broad nasal root

-Long slender fingers

-Abundant scalp hair

-Flat cheeks or malar region

-Retruded mandible (retronathia)

-Overt or submucous cleft palate including occult submucous clefts resulting in VPI (not easily visible)

-denovo: sometimes not inherited, happens during development
VCFS Features Cont....
-Ventral Septal defects (VSD) and other cardiac anomalies

-Learning disabilities

-Pharyngeal hypotonia (increased risk of aspiration)

-Obtuse cranial base (wider than 90 degrees)
*deeper pharynx, velum needs more dynamic movement to close off space

-*medial displacement of internal carotid arteries**
-pulsating in throat
-makes you think of surgical options
-be careful of pharyngeal surgery

-Ear anomalies (not all curves, concha, cartilages)

-Microcephaly (brain smaller = high correlation with speech and language delays and intell disability)

-Adult onset psychosis (schizophrenia), anxiety, OCD
Pierre Robin Sequence
-Also referred to as Pierre Robin malformation sequence and Pierre Robin anomalad

-Primary Features include: Mandibular Micro/retro(retruded)gnathia, glossoptosis (tongue falls into airway when you breath in) and u-shaped/horseshoe shaped cleft palate
-tongue is pushed up, can't fuse properly

-Not a syndrome but a deformational sequence resulting from primary micro/retrognathia

-results in upper airway obstruction and cleft palates
Mirco-retrognathia
-Glossoptosis
-Respiratory obstruction

-mandible retrograde
...
-tongue flopping back
...
nasotracheal tube
Pierre Robin Sequence cont.
-1/5000 - 1/50,000

-+/- cleft palate (they don't have to have a cleft palate)

-frequent syndromic association (Stickler Syndrome)

-? intrinsic growth deficiency of mandible and neuromuscular disorders of decreased tone

-? fixed fetal position = inhibition jaw development

-Micro/retrognathia of the mandible causes the tongue to be carried higher and more posterior in the oro and nasopharynx preventing palatal fusion

-Cleft takes a u-shape similar to the tongue

-Results in upper airway obstruction with sequalae including apnea, swallowing issues, GER (because of change in pressure) and Failure to Thrive
-increased risk of aspiration
Stickler Syndrome
-Autosomal dominant connective tissue disorder - 50% recurrence risk

-Related to type II collagen gene COL2AI and COL2AII on chromosome 12 and additionally chromosome 6

-Frequently associated with Pierre Robin sequence
Features of Stickler Syndrome
-High Myopia - 40% (need early examination by opthamologist = abnormally shaped eyes)
-severe nearsightedness

-Cataracts

-Hearing loss mixed or SN and progressive in 80%

-Risk of retinal detachment (frequent after 20 years of age)

-Progressive Arthropathy
-arthro: joint issues, joint instability

-Cleft palate or submucous in 20 - 50%

from pic:
-prominent eyes
Van Der Woude Syndrome
-Autosomal dominant w/50% recurrence risk
-can be carried recessively too

-Mapped to chromosome 1 and can be ID'ed in carriers (non-affected individuals)

-Major features present include cleft, lower lip pits or sinuses and hypodontia
-smaller teeth or maldeveloped
Van Der Woude Syndrome cont.
-Lower lip pits = accessory salivary glands
-sinus tracks, shallow or deep

-+/- cleft

-Syndactyly: webbing between fingers or toes

-Abnormal genitalia

-Absent dentition

-Popliteal pterygia: webbing
Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome- EEC
...
EEC
-Anhidrotic ectodermal dysplasia w/poor skin, tooth, mucosal quality
-dry and thin
-missing teeth
-conical teeth: round and pointy

-Deficiency of sweat glands

-Dry red, flaky skin (not enough collagen)

-Cleft lip and palate: bilateral most prevalent

-Ectrodactyly of hands & feet: usually all 4 ("lobster claw")

-Hoarse/breathy vocal quality due to mucosal issues
EEC-Ectrodactyly
EEC-Hypohydrotic
-conical teeth on top
-distinct facial presentation
Oculo-Auriculo-Vertebral Spectrum
-Includes diagnoses of hemifacial or craniofacial microsomia and Goldenhar syndrome

-There are various other conditions and terms to refer to individuals falling under this spectrum of disorders relative to severity of involvement and # of structures involved
Craniofacial Microsomia
-severity ranges
-Harry Connick Jr (mild)
-face smaller
Hemifacial Microsomia
-craniofacial microsomia

-1st and 2nd branchial arch syndrome

-otomandibular dysostosis

-oculo-auricular-vertebral spectrum

-Goldenhaur syndrome

-1:4-5000 (second most common cranial facial condition)
-early feeding and swallowing issues

-type 1-3 mandibles
CFM: Malformation
-asymmetric facial form

-hypoplasia orbit, zygoma, maxilla, mandible

-decreased palatal width

-malocclusion
CFM: Malformation cont.
-range of ear malformations (normal to microtia)
-ear tag, etc.
-atresia = ear canal did not fuse or form
-normal cochlea usually
-BAHA: bone conduction

-soft tissue hypoplasia (skin, muscle, tongue)

-nerve deficits
-facial, glossopharyngeal, pharyngeal plexus

-bilateral forms (most unilateral)
CFM: Mandibular Findings
1. Type I: slight hypoplasia mandible, functional TMJ
-smaller mandible on one side

2. Type II: hypoplastic mandible and TMJ, functional TMJ, displaced anteromedially, short ramus, +/- absent coronoid
-still have functional joint

3. Type III: severe hypoplasia, ramus absent, no TMJ or glenoid fossa
-ramus is missing
Types picture
-Type 1: smaller
-Types 2: still structures, different angle and primitive looking, still articulate
-Type 3: missing ramus
Type I
...
Type IIb
...
...
...
Type III
...
...
...
-missing structures
...
...
CFM: Goldenhar's Variant
-mandibular findings

-vertebral anomalies

-epibulbar dermoids (skin cysts on eye or lid)

-lipodermoids
Major Features of OAV Spectrum
-Occurs in 1/3000 - 5000 live births.

-Hypoplasia of one side of the face and jaws is the most common finding (severity is variable)
-mandible most commonly impacted

-Ear anomalies and malformations ranging from atresia and microtia to preauricular ear tags only
-severity varies

-Associated conductive hearing loss

-Eye anomalies (epibulbar dermoids in Goldenhar)

-Vertebral anomalies (mild to severe)

-Cleft lip +/- palate (7-15% of OAV patients)

-Ankyloglossia (mandible shifted causes restricted motion because of abnormality)

-Cardiac anomalies (variable)
OAV cont...
-Facial muscle and tissue hypoplasia on the affected side

-Facial nerve paralysis

-Pharyngeal hypotonia

-Facial clefts (lip commissure clefts common)
-lateral facial clefts

-Kidney anomalies
-missing kidneys
Mandibulo-Facial Dysostosis AKA: Treacher Collins Syndrome
-Occurs in 1/50,000 live births

-Pierre Robin sequence ++ common - i.e.: Retro/micrognathia, glossoptosis and u-shaped cleft palate

-Maxillary hypoplasia
-isn't horizontal, planes downward, upper airway obstructed

-Downward slanting palpebral fissures (corners of your eyes)
-orbital clefts and zygomatic clefts

-Absence or missing portions of lower eye lashes
Treacher Collins Cont...
-Iris colobomas (like CHARGE)

-Malar hypoplasia

-30 - 35 % with overt clefts of palate

-30 - 40% with Submucous cleft or VPI due to other issues (inadequate motion)

-Outer and inner ear anomalies (variable)

-High incidence of significant conductive hearing loss and few mixed w/SN components
-maldeveloped ossicles

-abnormal shape of where ramus meets mandible
CHARGE Association/Syndrome
C - Coloboma (black effusion from colored part to pupil, cause visual field cuts)
H - Heart malformation
A - Atresia Choanae (posterior openings of nasal cavity into nasopharynx) - no opening into nasopharynx
-respiratory distress (too much tongue and cheek)
R - Retardation of growth (smaller)
G - Genital hypoplasia
E - Ear malformations or deafness (rotated back and prominent)

-mild to severe developmental delays
TREACHER COLLINS SYNDROME
...
Treacher Collins Syndrome
-Mandibulofacial Dysostosis

-1st and 2nd Branchial Arch Syndrome

-Franceschetti-Klein Syndrome

-Tessier Cleft 6-7-8 (1969)
TCS: Etiology + Incidence
-AD with variable penetrance

-chromosome 5q

-1 in 7000 live births
Pathognomonic Findings
-malar hypoplasia

-antegonial notch inferior mandible

-lower lid coloboma (cleft of eyelid)
TCS: Functional Issues
-airway
-decannulation
-sleep apnea
-feeding and nutrition
-eye exposure
-hearing

-glossatopsis
CF Skeleton - Tessier Clefts
#6 Cleft:
-maxilla -zygomatic bone, infraorb fissure, eyelid

#7 Cleft:
-temporozygomatic suture, z. arch, ear, oral

#8 Cleft:
-frontozygomatic suture
Soft Tissue - Eyelid
-colobomas

-hypoplastic

-Cilia(lashes) absent medial 2/3

-antimongolian slant

-inferolateral canthal dystopia, disinsertion

-assoc. optho findings
Soft Tissue - Ear
-dysmorphic extern ear, AC, TM, mid ear

-malformed, malpositioned, absent

-96% pts conductive hearing loss

-inner ear normal

-mandible points down
Preaxial Acrofacial DysostosisAKA: Nager Syndrome
-Can be autosomal dominant (50% recurrence risk or autosomal recessive 25 % risk to be affected and 50% risk to be a carrier)

-Zygomatic hypoplasia

-Ear anomalies (variable with associated conductive hearing loss)

-Severe micro/retrognathia

-Maxillary and velum hypoplasia
Nager Syndrome cont....
-TMJ malformations (associated with hypoplasia)

-Agenesis of soft palate or severely wide complete cleft palates

-Upper limb deformities (wrist and forearm)

-Thumb malformations or agenesis

-Short stature

-Cleft lip and lateral facial clefts

-Laryngeal hypoplasia (underdevelopment of larynx)
Differential Diagnosis: Nagar syndrome vs. Miller syndrome
Nagar: missing thumb
Craniosynostotic Syndromes with known association of cleft
-Crouzon Syndrome
-Pfieffer Syndrome
-Apert Syndrome
-Saethre Chotzen Syndrome

under this umbrella (involve fusion of cranial sutures
-coronal suture (anterior fontanelle)
-sagittal (anterior soft spot to posterior soft spot)
-lambdoid suture (soft spot to cranial base on both side)

-mitopic suture: fused, triangular fused
Craniosynostosis
-Prevalence: 3.1 to 4.8/10,000 live births

-Sex distribution: males > females except coronal

-Syndromic vs. non-syndromic: associated with > 100 known syndromes (OMIN)
Non-syndromic Craniosynostosis
-Frequency of involved sutures: Sagittal (most common), coronal, multiple, metopic, lambdoid (Lajeunie, et al 1995, 1996, 1998,)

-Surgical timing: prior to 1 year of age with strip craniectomy or vault expansion/remodeling
-after 4 months: can't do minimally invasive
Craniofacial Dysostosis
Syndromes with craniosynostosis
Familial forms of synostosis involving
-Cranial base
-Cranial vault
-Midface structures
-Palatal structure and function
**Well described (Gorlin & Cohen, 2001; Cohen, 1986)
Pfeiffer Syndrome pic
Syndromic Craniosynostosis
-Apert: FGFR2

-Crouzon: FGFR3

-Pfeiffer: FGFR2

-Saethre-Chotzen: TWIST1
*may develop overtime

-Muenke: FGFR3

-Carpenter: RAB23

-Antley-Bixler: POR

-Jackson-Weiss: FGFR2

*lots of genes!
Primary Functional Issues
-elevated intracranial pressure (>15 mmHg)
1. multiple sutural fusion: 42%
2. single sutural fusion: 13%

-skull is too small for growing brain

-Vision: optic nerve atrophy, corneal exposure

-Cognitive function

-Airway integrity: narrow nasal passage

-Feeding/swallowing
Secondary Functional Issues
-Speech and Language (if syndromic)
-structures are different

-Malocclusion

-Feeding (long term)

-Vision

-Hearing (progressive, conductive, etc)
Syndromes of Craniofacial Dysostosis
-you need to refer children in rural areas or who are not diagnosed
-need to see craniofacial team
Syndromic Craniosynostosis overview
-Four major craniosynostotic syndromes encountered frequently include: Apert, Crouzon, Pfeiffer and Saethre-Chotzen Syndromes

-All are autosomal dominant conditions with a 50% recurrence risk

-Apert, Pfeiffer and Crouzon have been mapped to mutation of a gene, FGFR, on Chromosome 10

-Saethre-Chotzen has been mapped to genetic mutation on Chromosome 7
Apert Syndrome
-A Multi-deformity syndrome involving the skull, face, maxilla, mandible, hands, feet and joints

-Synostosis primarily of the coronal suture with variable involvement of other sutures
-high short heads
-midface hyperplasia

-Coronal synostosis results in foreshortening of the skull in the anterior-posterior direction

-The maxilla and midface is poorly formed and hypoplastic

-Eyes can be poorly supported and exophthalmus can be present (bulgy or proptotic)
Apert Syndrome cont.
-The maxilla is short and v-shaped resulting in ectopic tooth eruption and significant class III malocclusions

-The nose is typically beak shaped with retruded nasal bridge

-Syndactyly of the hands and feet is present
-can't grasp

-Accumulation of soft tissue along the palatal shelves is common (gingival hyperplasia)
-thick gum ridges

-Cleft palate or submucous cleft is a common finding, 30 % prevalence

-Tracheal anomalies are common
Apert Syndrome more.
-Naso-pharyngeal crowding is problematic resulting in upper airway obstruction and recurrent OME due to reduced aeration of middle ear space

-Choanal atresia can be present (not opened and causes respiratory distress)

-There are restrictions in joint mobility which become worse with time

-Cervical fusion is common and progressive

-Ear anomalies have been reported

-Hydrocephalus can be present (may need VP shunts)

-Intelligence is variable
Apert Syndrome pic
Crouzon Syndrome
-Involves deformities of the skull and face

-Wide range of severity

-Primary coronal synostosis with variable involvement of the sagittal and lambdoid sutures

-Includes midface hypoplasia, shallow orbits and exophthalmus

-Class III malocclusions, dental crowding and ectopic tooth eruption

-Soft tissue accumulation along palatal shelves in 50% of cases though less severe than Apert

-Cervical fusion may be present
Crouzon Syndrome cont.
-CNS abnormalities can be present

-Intellectual ability is variable

-Middle ear disease is common

-Conductive hearing loss occurs frequently

-Atresia can be present as well as middle ear malformations
Crouzon Syndrome picture
-all sutures affected
Crouzon pic 2
Pfeiffer Syndrome
-Three types I = classic type w/coronal synostosis, depressed nasal bridge, maxillary hypoplasia, poss. Atresia or stenosis of external auditory meatus
-most common
-coronal
-depressed nasal

-Type II w/ cloverleaf skull from synostosis of all sutures as well severe proptosis, CNS involvement, ankylosis of elbows and other anomalies - usually not compatible w/long term survival

-Type III w/ no clover leaf skull, but ocular proptosis, shallow orbits and shortened anterior cranial base - not compatible w/long term survival
-significant
Pfeiffer Syndrome cont.
-Autosomal dominant condition mapped to chromosome 10

-Progressive synostosis of the coronal suture bilaterally

-Mild to moderate intellectual deficiency
-go to high school and get job

-Conductive hearing loss secondary to external and middle ear anomalies
Pfeiffer Feet
Pfeiffer pictures
Saethre- Chotzen Syndrome
-Variable patterns of malformation

-Craniosynostosis: typically coronal suture, not always present

-Hypertelorism (farther apart)

-Low frontal hairline

-Ptosis (eyelid drooping)

-Facial asymmetry

-Deviated nasal septum

-Maxillary hypoplasia and class III

*heart shaped faces
Saethre-Chotzen cont.
-Possible digit anomalies including short fingers or partial soft tissue syndactyly

-Mapped to Chromosome 7

-Cervical spine fusions

-Sporadic cleft palate

-Dental anomalies
Saethre-Chotzen Hand
Syndromic Craniosynostosis final info
-1/50k - 1/150k (who defines condition)

-Syndromes of CF Dysostosis

-Facio-craniosynostosis

-Acrocephalo-syndactyly

-Bicoronal synostosis

-Fibroblastic growth factor receptor mutation (FGFR) & TWIST gene
CF Dysostosis
-turricephaly-brachycephaly

-SOR retrusion

-midface hypoplasia

-exorbitism

-class III malocclusion

-orbital hypertelorism

-increased ICP

-hydrocephalus

-exposure keratopathy
Syndromes CF Dysostosis
-Apert

-Crouzon

-Carpenter

-Saethre-Chotzen

-Pfeiffer

-Jackson-Weiss
Bicoronal Synostosis
-coronal suture missing
Multilevel Airway Disease
40-100% anomalous airways
-reduced NF dimensions
-choanal atresia
-long, thick palate mucopolysaccharide (oral and nasal side)
-lg lymphoid rings
-acute cranial base
-retruded mandible
-midface hypoplasia
-tracho-bronchial anomalies
-13% subglottic stenosis (narrowing - can be caused by endotracheal tube)

Requires routine formal multilevel endoscopic evaluations

-often cause swallowing issues and speech/language issues
LeFort III Craniofacial Disjunction
-brining midface forward
...
...
...
-bone will develop behind it
-brings midface forward gradually
-maintained because individual own bone
ROMBERG SYNDROME
...
Romberg Syndrome
-Parry-Romberg syndrome, 1844

-progressive hemifacial atrophy

-slowly progressive atrophy of skin, SQ tissue, fat, cartilage, and bone

-coup de sabre
Romberg Syndrome cont.
-rarely bilateral

-onset childhood to adolescence

-"burns out" after years

-may have associated: Jacksonian seizures, trigeminal neuralgia, pigment changes skin, hair, iris
Romberg Syndrome etiology
-infectious
-sympathetic
-peripheral trigeminal vasomotor
Romberg Syndrome historical tx
-chemotherapy
-radiation
-steroids
-antibiotics
-antivirals
Romberg Syndrome: Tx
treatment strategy: wait until quiescent
-replace lost tissue in kind
-may require multiple procedures
-bone grafts
-fat and dermis grafts
-free flaps
The Cleft Craniofacial Team Concept
-need to see whole team of people because of various people
-need to meet their needs
-need communication, common goals, leadership, problem-solve, mutual respect
-different skill set and knowledge base
-every single person is important as the other
Team Care
-Begins with a meeting of the minds

-Patients are evaluated by a spectrum of specialists from diverse backgrounds with differing perspectives

-They come together and merge to focus on the care of the "whole" patient

-Integrated treatment plans are formulated and modified with growth and development to provide comprehensive treatment in all domains

-usually followed until skeletal development is finished (15-16)
Transdisciplinary Management....Beyond Interdisciplinary
Coined by LeBlanc in 1994, an orthodontist expressing the complex interaction and impact each specialist's treatment has on other domains.
i.e. Moving teeth impacts lip/nose contour and speech production as well as psychosocial well being/self image

-involve each other
-knowledge about the impact on other specialities
-need to know effect
What is Transdisciplinary?
-Refers specialists who know more than their own specialty and its impact on treatment

-Each specialist is highly knowledgeable about the impact of their treatment on other anatomical, physiological and therapeutic domains allowing for a truly integrated and effectively timed treatment plan.

-Takes into account the "whole" patient.
The Cleft/Craniofacial Team
-Audiologist (cleft+)
-Ophthalmologist (cranio)
-Pediatric Dentist (cleft+)
-Orthodontist (cleft+)
-Prosthodontist (cranio)
-Pediatrician (cranio)
-Nurse (cranio)
-Social Worker (cleft+)
-Psychologist (cranio)
-Geneticist (cranio)
-Speech Pathologist (cleft+)
-Plastic/Reconstructive Surgeon (cleft+)
-Oral-Maxillofacial (cranio)
-Otolaryngology (cleft+)
-Neurosurgeon (cranio)

-modified based on disease process (who is on each time)
-every clinic has different specialist
-cranio needs more
Ancillary Team Members
-Radiologist (imaging)
-Child's Pediatrician
-Family (has to be included in treatment planning)
-School teachers and school therapists
-Community Dental Professionals
-Dieticians/nutritionist (poor weight gain)
-Psychiatrists (psychiatric conditions or significant learning disorders with medicine)
-Anthropologist (measure outcomes and compare to norms established for people of different ethnicities, sexes, ages)
-Anesthesia (lots of surgery)
-Endocrine (pituitary abnormality, growth hormone, diabetes)
-Neurology
-Orthopedics

-any child who you order this for
Primary Team Roles
-Coordinator: ensures appropriate scheduling, follow-up and treatment of all patients

-Communicates findings between team members and to child's community specialists

-Tracks patients diagnoses, treatment and outcomes to ensure quality of care
Reconstructive Surgeon
-Most often Plastic surgeon (in US)
-certain number of cases in cleft, bone graphing, etc. before they can be a plastic surgeon
-no other specialists are required

-Responsible for appropriate timing and completion of reconstructive procedures

-Oversees the medical management of the patient with craniofacial condition

-usually carries the power because surgically driven
Nurse/Nurse Practitioner
-Responsible for monitoring growth and development

-Assists the surgeon pre and post op with physical health assessment and medical/surgical management

-Manages clinic flow through the interdisciplinary clinic ensuring all patients see the appropriate specialists at the appropriate time
Otolaryngologist (ENT)
-Assists in the diagnosis of airway issues

-Performs direct airway evaluations in clinic and in operating room

-Manages all children otologic needs

-Manages sinus and upper respiratory issues
Audiologist
-Provides newborn hearing screenings: now mandated in PA and many other states
-"2 weeks"
-need ABR if 2 weeks do not go well (auditory brainstem response)

-Provides diagnostic audiological procedures to identify and comprehensively diagnose hearing issues

-Manages ear disease and malformations closely with otolaryngologist

-Recommends amplification and aural habilitation in community
Pediatric Dentist
-Manages the dental health of all patients

-Monitors dental eruption patterns and aides in diagnosis

-Assists with evaluation and timing of dentally related procedures

-Interventions and timing of interventions

-Tooth development, oral pathology, special to pediatric
-can sedate kids and take them to surgery
Craniofacial Orthodontist
-Provides evaluation of dental eruption patterns and occlusion

-Prepares patients for craniofacial procedures affecting occlusion preoperatively and provides post operative retention and tooth movement

-May assist in presurgical infant orthopedics

-Unique to craniofacial cleft and care

-Presurgical orthopedics to mold tissues and get better results

-Help restore ears with molding protheses
Oral-Maxillofacial Surgeons
-Provides surgical procedures for the reconstruction of the jaws and face

-Aids is the reconstruction of normal dental occlusion and jaw function, TMJ issues, trauma, oral pathology
Prosthodontist
-Assists with infant presurgical infant orthopedics

-Provides oral and facial prosthetic habilitation

-Constructs and places speech aids in conjunction with SLP

-missing teeth, need speech appliance (palatal lift), provides eyes and ears
Pediatrician
-Manages the medical well being of patients

-Provides diagnoses and treatment for medical conditions and diseases

-Aids in the differential diagnosis process for children with multiple issues

-General growth and development
Neurosurgeon
-Provides diagnosis and treatment of intracranial procedures

-Times surgical interventions in conjunction with the reconstructive craniofacial surgeon

-Cut bones off for reconstructive surgeon

-VP shunts

-Protects the brain during surgery

-Evaluate brain development, etc.
Geneticist/Dysmorphlogist
-Assesses patients for dysmorphology and associated medical conditions

-Provides counseling to patients and families regarding recurrence risk

-Helps with specificity to know what to expect with kids

-Nationally, identify genetic condition in 55% of kids who are tested

-Childrens, 75%

-Can truly change medical care of the patient
Psychologist
-Evaluates behavioral development and attainment of developmental milestones

-Provides counseling for psychological issues

-Assists in referrals and coordination of habilitation and educational services

-Development testing before and after procedures

-Anxiety, behavioral, and learning issues
Social Work
-Provides support to families psychosocially and emotionally

-Assists family in locating community resources, financial assistance, transportation and parent support groups

-Acts as a liaison between child protective services and the clinic in cases of abuse or neglect

-Identify resources for patients

-"Neglect:" not providing appropriate care or not seeking care that can alter development for a child

-Help with insurance (secondary program)
Ophthalmologist
-Evaluates vision and eye malformations

-Assists in the identification of increased Intracranial pressure (looking at optic nerves)

-Provides diagnostic information to aid in differential diagnosis of craniofacial conditions

-Might have connective tissue disorder
Speech-Language Pathologist
-Let's define our Role!

-Medical vs. Behavioral (developmental) Model
-intertwining them

-Feeding and swallowing (SLP evaluates)

-Differential diagnosis
-SSDs, cog ling, language delays, dysarthria, apraxia, etc.

-Speech and language development.
-structurally related articulation
-Typical speech language delay?
-Acquiring language in a fair amount of time?

-Structurally related speech disorders

-VPI

-Oral Mech

-Case History

-Fluency

-Voice

-Speech habilitation
Team Goal
Provide collaborative care in the medical, surgical, dental, therapeutic, and counseling domains to achieve essentially normal speech and language skills, facial appearance, dental-occlusal development and hearing as early as possible in the child's development

-close to normal as possible as earliest age
-communicate, face to look normal, etc.
-tooth for every spot in right place, etc.
-you cannot do this unless everyone buys in
Planning
Quote by DB Cooper

"Men do not plan to fail.... They Fail to Plan!!"

-establish a plan and work it
Early Management Issues
...
Prenatal Diagnosis
-Prenatal diagnosis is becoming more common secondary to advances in ultrasonography and prenatal care
-All in utero because technology and specialization has advanced
-80% identification with cleft lip and/or palate before birth
-Craniosystenosis

-Parents and Physicians are requesting prenatal counseling

Pros and Cons
-Cons: cleft palate or lip: 80% of pregnancies terminated
Prenatal Counseling Issues
-Who counsels?....Geneticist, Surgeon, SLP/Feeding specialist or a combination
-Geneticist: a lot of information, variability of expression
-Surgeon: cutting and sewing, talk about surgery
-SLP: care, development overall, voice, feeding, social behavioral, swallowing, feeding instruction
-Nurse
-Pediatrician
-Sometimes Coordinator automatically does that

-Different beliefs: quality of life versus staying alive?
-Don't interject personal beliefs
-Express percentage, community resources, financial problems
-These parents are grieving the loss of a normal child

-Personal beliefs may be in conflict with parents....Termination is a sensitive issue

-How much information to disseminate?...Ultrasound dx is not 100% sensitive
-Small pieces in the appropriate time
-Sometimes can overdiagnose

-Need to consult: what does it look like, how, resources are there
Perceived Benefits
-Parents can be better prepared mentally, emotionally and financially for the birth and care of a special needs infant

-Parents can be taught to feed the baby w/cleft to minimize stress neonatally

-Parents can grieve prior to birth and more completely enjoy the birth experience
Prenatal Diagnosis Discussion
What are your perceptions of the risks and benefits to prenatal diagnosis????
Case 1
Robin Glock: Unilateral Cleft Lip
-structures are mapped with volume averaging to give pic to baby's face
Case 2
Erica Koszewski, cleft lip & palate
No Cleft, 3D face example
-normal face
CASE 1 3D
-cleft on left
CASE 4
-L cleft lip
...
-left cleft lip and palate
A B C's
airway, breathing, circulation

-comprehensive evals
Comprehensive Pediatric Exam
Examination of all systems
A & B: Airway and Breathing- evaluate and intervene for airway and respiratory issues

-Pierre Robin Sequence: upper airway obstruction
-Midface hypoplasia
-Laryngeal-Tracheal anomalies: CPAP, intubated
-Pulmonary issues: not developed enough
-Hypotonia: low tone
-Neurologic abnormalities or insults: strokes, etc.
C - Circulation
-Scrutiny of heart and lung exam

-If murmur or abnormal rhythm detected further testing is required
-Ecocardiogram (midline defects)

-Cardiac echo to rule out congenital cardiac abnormalities: critical in CPO and multiple congenital anomalies
Eyes and Vision
- Primary dilated eye exam for all cleft palate only infants
-Stigmata of Stickler

- Dilated exam in all Craniosynostosis
-Papilledema

- All infants with multiple congenital anomalies and prematurity

-kids in NICU get eye examinations
-Retinaopathy: premees
Parent Education and Support
-Provide information and educate once infant is stable

-Provide options and emotional support to "empower" the family

-Inclusion of family in intervention and care

-Decision of recommendation; shared decision-making with parent
Early Management Issues Summary
-Airway: evaluate and intervene for airway issues

-Pierre Robin Sequence

-Midface hypoplasia.

-Laryngeal-Tracheal anomalies

-Hypotonia

-GER

-Cardiac Anomalies

-may need supplemental oxygen so not killing brain cells
Airway management
Babies with Pierre Robin sequence require close monitoring of airway during positioning on back, feeding and car seat placement to ensure a stable airway

Warning signs of airway compromise
-noisy breathing (stertor) and/or stridor
-chest retractions or tracheal tugging
-facial or finger color changes including duskiness and cyanosis
-Paradoxical Breathing (cycle of breathing is disrupted)
-Failure to Thrive
Airway management in PRS
-Position infant Prone or on the side for sleeping
-turn on stomach, tongue out of throat
-Don't want kids on back with Robin Sequence

-Monitoring with A&B monitors and oxygen sat if in hospital
-Worry under 90%

-Feed with infant upright and tongue level to prevent tongue base collapse
-Tilt head forward, opens vallecular space

-Manage reflux medically
-Alters thoracic pressures, can result in edema and reduced sensation
-Cause dysphagia and increased obstructive with swollen tissues

-If conservative management is unsuccessful surgical intervention is warranted after comprehensive airway evaluation utilizing DL&B, BAL & FFL performed by ENT
-Then we need intubation
Severity of cases
-if tongue obstruction is just in throat, trachestomy or surgical procedure to get tongue out of way

-mild to moderate case with periodic apnea
-sleep study (polysonagram)
-degrees of central apnea, obstructive apnea, does oxygenation drop, do they have CO2 retention

-swallow study (high prevalence of aspiration with kids with Robin sequence)

-Does apnea and swallowing deficits result in surgery?

-Mild cases usually can get by without surgical intervention

-Moderate: half of them need some type of surgery
Surgical Airway Intervention
-Tongue lip adhesion: significant advances in technique now make this successful
-Tongue base

-Mandibular advancement: Distraction osteogenesis
-Tongue base

-Tracheostomy
...
mild retrognathia

-tongue lip adhesion
...
Tongue-Lip Adhesion
-1946 Beverly Douglas
-suture technique
-correcting glossoptosis
-many evolutions in technique

-slice open tissue inside of tongue
-bring flap inside gum ridge
-sutures through tip of mandible to base of tongue to bring tongue forward
-stays intact from 6 months to a year
...
stents tongue forward
Tongue-Lip Adhesion cont.
-most recent, largest experience: CHOP
-28 year study, 107 pts PRS
-Tx: 69% positioning, 30% surgically
-88% TLA, 12% Trach
-TLA: 26DOL, 45% mucosal, 55% muscle, 27d LOS
-17% dehiscence (none with muscle)
-20% failed TLA to trach (only 1 pt not syndromic)
-SUCCESS: 79% for appropriate canidates

-more mild = better success rate
Neonatal Mandible Distraction Osteogenesis
-most common for Robin sequence
-need apnea or significant airway compromise

-we cut the bone and put screws (comes out the back)
-as we turn it, babies will grow own bone as we stretch it
-bone can consolidate
-bringing jaw forward, stop turning when tongue is out of throat
-go back in 3-4 months to remove it

-this is all determined by endoscopy (want no other airway obstructions)
-may develop tooth bud

-want to avoid trachs
...
-NG tube in place to be fed
-intubated for 3-5 days because of swelling
-if aspirating before surgery, getting swallow study after
External Mandibular DO
-two pins
-don't want pins to slide
-scars will heal
PRS: Protocol
-positioning (prone - on belly)

-ETT (if they cannot breathe still)

-multilevel airway evaluation (where is the obstruction beyond the tongue base, ENT)

-TLA*

-rapid mandibular distraction osteogenesis*

-tracheostomy

*can still get trach after if failure
Airway management in other conditions
-May include midface hypoplasia with or without micro/retrognathia

-Choanal atresia (severe distress at delivery, obligate nasal breathers for first 4-5 months)

-Neuromuscular conditions: myopathy etc.

-The same evaluation and diganostic criteria are used as in PRS: close monitoring of physical status, breathing, feeding and O2 HR monitoring to determine need for surgical intervention

-Severe compression of trachea
Final Point on Airway
-As SLP's we typically are not involved in airway assessment directly

-However, babies that do not breath well will NOT feed well and may aspirate frequently necessitating our input into medical management of the infant including feeding changes, tube feeding needs and surgical airway management

-if you cannot breathe, you cannot swallow
-you work harder and cannot gain weight

-G tube in for babies going home
Feeding and Swallowing
-The SLP typically evaluates and treats early feeding and swallowing issues

-Provides education and instruction for nurses, caretakers and parents regarding feeding recommendations including feeding, positioning, nurser, nipple etc.

-Recommends further diagnostic testing as needed
-Trying different thicknesses: in infants, they do not usually develop cough reflex (are they aspirating portion of feed)
-MBS is important (anatomy and physiology)
-Quantify aspiration
-Limit time of fluoroscopy

-force feed: aspiration, agitated, mess up pattern, breathing and heart rate, feeding aversion (negative associations)
-infant needs to be driving the feeding (Infant Driven Feeding Scale)
Feeding a Cleft Lip Infant
-Minimal modifications needed

-Breast or bottle feeding is tolerated well

-Breast tissue or nipple fills void in lip

-If not succeeding check for Submucous cleft or wide maxillary cleft

-Pressure: against the tongue and the hard palate, do not need lips

-If alveolar cleft, there is hole there
-If air leakage, may need supplemented or bottle fed
-You need negative pressure created by latch, closure of soft palate, and cheek movement
-Cannot get negative pressure = will not be efficient
-You can hear clicking or loss of pressure
Feeding a Cleft Palate Infant comments
-Why can't my baby breast feed or suck well?

-I'm a failure because I can't feed my baby!

-I don't want my baby's bottle to look different from other babies!

-Can you help me??

-Palate = cannot do with breast feeding alone
-Pump breastmilk with speciality nurser so no failure to thrive issues
-want to prevent nasal regurgitation, dripping down between the swallows
-want gravity to help (keep them up)
Nursers
-The Mead Johnson Cleft Palate Nurser

-Most commonly available

-Very flexible due to standard size nipple ring: can interchange and modify nipples based on need
-but rough for nasal irritation

-Squeezable bottle to provide flow assistance

-Cross cut nipple for rapid flow with minimal negative pressure

-aim for intact tissue with nipple

1. pressurize nipple
2. harder and softer depending on what infant is doing
Feeding tips
-upright position prevents nasal regurgitation
-assist with flow of formula (speciality nurses)
-4 speciality available on the market now
-more air in with nasal cavity: need to burp more (leads to burping and vomit)
-Burp baby: first few minutes of feeding, then 2 times between, and always after
-Won't gain weight if prolonged feeding (burn more calories, less sleep)
-Don't feed more than 30 minutes
-Every 3 hours for newborn (2 1/2 if breast milk)
The Pigeon Bottle and Nipple System
-Fairly new to the US

-Includes a squeezable nurser with a one way check valve
-Allows formula into the nipple, milk goes into kids mouth

-Nipple is vented and Y-cut as well as multi-textured to allow rapid flow with minimal excursion

-Standard nipple ring and relatively normal appearing bottle make it a parent favorite

-Thick and firm at top, air vent at top
-all baby need to do is compress for flow
-one small or one large nipple
Haberman Cleft Feeder (madela special needs nursers)
-Utilizes a large nipple which is squeezed to provide formula delivery

-Nipple is straight cut (flow rate indicated on nipple)
-medium flow: diagonal
-high flow: vertical
-low flow: horizontal

-Utilizes a one way flow valve to prevent back flow and air ingestion

-Most "special" appearing of the cleft nursers

-Large nipple, one way valve (latex sheet)
Dr. Brown's special
-consistency across nipples (laser cut)

-if wide cleft: not the best (irritation of nasal like the Johnson bottle)

-every bottle is different
Feeding a Cleft Palate Infant
-Positioning upright

-Assistance with delivery of formula/breast milk flow with speciality nursers

-Frequent burping

-Limit feeds to 30 minutes
Hearing and Otological Management
...
Otological Management
-Early screening/identification audiometry of hearing loss is mandated in PA in all newborns

-Transient evoked auditory otoacoustic emissions usually implemented, but screening ABR (auditory brainstem evoked responses utilized as well)

-fluid-filled environment (fluid in middle ear space)
-Eustachian Tube opens (tensor veli palatini, salpingopharyngeal muscle, and levator veli palatini)

-These muscles cannot work because they come down into velum and connect in middle

-When you swallow or yawn, these muscles contract

-Cleft: swings are incomplete, cannot open these up

-fluid in middle ear = conductive hearing loss
OTOLOGICAL CONSIDERATIONS
HEARING LOSS - Average incidence of 58% in cleft palate patients

-95% of which is Conductive in nature
-Eustachian Tube Dysfunction
-If fluid stays, thick and gummy and erodes the bones (ossicles)
-if stuck, permanent hearing loss

-5% Sensori-neural hearing loss

MIDDLE EAR EFFUSION - greatest risk with unrepaired cleft palate (80 - 95% prevalence reported)

-natural ABR without sedation: kid can eat, sleep and fall asleep, differentiate what kind of hearing loss
Eustachian Tube Dysfunction
-Primary cause of abnormal middle ear function and subsequent OM in children with cleft palate

-Acts as the ventilating and pressure equalizing system for the middle ear

-The eustachian tube orifice/lumen is opened by the antagonistic pulling of the levator palatini and tensor tympani muscles
Management of Otitis Media and Eustachian Tube Dysfunction
-Early and frequent ear examinations (every 6 months)

-Early and frequent audiometric assessment of hearing levels as well typanometry for evaluation of middle ear pressures, presence of fluid and TM status

-Ventilating tube placement if fluid persists or infection is recurrent

-Once tubes placed, reevaluation at least every 6 months and prior to any surgical procedure

-Myringotomy: tiny incision in eardrum
-tube: plastic tubes, extrude on own between 6-24 months
-long-term: titanium and removed eventually
-want to make sure no skin over tube
Palatoplasty and ET Dysfunction
-Studies are difficult to develop due to varying types and ages of palatoplasty

-Most agree that palatoplasty does improve ET dysfunction and reduce Otitis media in children with cleft palate

-Intravelar muscle procedure w/retroposition of the levators appears to have an added benefit

-Hamulus fracture is thought to be detrimental to ET function due to it's effect on the tensor velopalatini muscle
After repair
Data echoed

Average sets of tubes
-3.1 Armstrong (PE)
-1.1 Goode T-tube (removed surgically)

Audios
-67% pre-op failure rate
-93% post-op Pass rate....maintained in >90%
-Restore normal hearing but may need replaced
Long term
-12-16% have no disease

-Up to 10% significant complications
-tympanic membrane perforation that stays
-cholesteatoma (tumor in middle ear space)

-Up to 50% CHL in adulthood
-Perm if severe ear disease

-Up to 50% with abnormal adult otoscopy
-scarring, weak spot

-5% SNHL in children

-Evil mediators

-Compared to children with chronic OME without CP
Cholesteatoma
Severeid et al. 1985
-9.2% incidence vs. 6/100,000

-Multiple tubes

-6-15 y.o.

-All had prior retraction pockets
-if we put tube when this happens, prevents cholesteatoma

-Others have found 0% incidence with close care and aggressive tube placement

-Tumor or soft tissue growth in middle ear cavity
-evade mastoid bone and ossicles
-eardrum separating: retraction pocket and starts growth of tissue
Congenital Ear Malformations
-Variable in cleft related syndromes and multi-anomaly conditions

-Varying degrees of microtia and atresia are present in OAV/hemifacial conditions

-Ossicular and mastoid malformations are also present

-Treacher Collins and Nager universally demonstrate varying degrees of mictotia, atresia and conductive hearing loss

-Craniosynostotic syndromes +/- cleft palate have high prevalence of OME and conductive loss due to nasopharyngeal crowding and hypoplastic skulls

-Conductive = bone conduction hearing aids (BAHAs)
-You can always make canal and eardrum if they have middle ear cavity and ossicles (and then use traditional aid)
Management of Hearing Loss
-Preferential seating in school in mild cases (fluctuating loss due to OM)

-FM systems or individual listening aids

-Traditional hearing aids in sensori-neural and mixed loss

-Bone conduction aids in conductive cases. BAHA in kids over 5 years...head band prior
Other Otological Procedures seen in Craniofacial Patients
-Otoplasty for setback of prominent ears (22 deletion)

-Canal plasty for atresia

-Microtia correction (deformed external ears)

-Tympanoplasty (perforations that do not heal on own - closes eardrum)

-Mastoidectomy (cholesteatoma or fluid that invades mastoid bone)
-Can result in meningitis

-Cholesteotoma excision

-T-tubes (long term metallic tubes)

-Bone implants/abutments (screws that go into bone) for BAHA and Ear prosthesis
Case study
goal of craniofacial care
Sets with similar terms