Midterm Flashcards
Prevalence of clefts by type
Cleft lip AND palate (50%); cleft lip only (25%); cleft palate only (25%)
Sex bias
cleft lip & palate: m>f; cleft palate only: f>m (african populations b> girls both, chinese g>b both)
Racial bias
NA Indians (1 in 267)> asian (1 in 500) > caucasian (1 in 1,000) > african american (1 in 2,500); maybe asian/caucasian same
Cleft occurence rates
1 in 500 to 750 (2,000) live births; most frequent facial birth defect
Clefts of primary palate
structures anterior to incisive foramen (lip, alveolar ridge)
Clefts of secondary palate
Structures posterior to incisive foramen (hard palate, soft palate, uvula)
Types of cleft (frequency occurrence)
unilateral 2x than bilateral
What point are arches formed
4 weeks
form to nasal maxillary
6 weeks
when does hard palate begin to form
8 weeks
non syndrome (isolated CL/CLP)
70% CL(P); 50% CPO
Recurrence risk for CL(P)
increases w/ severity, # affected relatives, sex of person, how closely related
by 10th week development, _______ developed
maxillary incisors
by ______ weeks, they can reliably diagnose if fetus will have CL(P)
20
Types of cleft lip
bilateral/unilateral, medial/left/right, complete/incomplete
Types of cleft palates
cleft of hard palate only; sub mucous cleft; cleft of hard and soft palate
Posterior boundary of the primary palate
Incisive foramen
Surgical interventions (age)
lip repair- 3 months; palate repair- 9-12 months; teeth repair- 8 years; Maxillary advancement- 18 years
Roughly what % of kids w/ repaired cleft will have articulation disorder?
60-70%
5 dental anomalies of children w/ CL(P)
placement (cross bite); number (missing teeth); collapsed maxilla; protruding pre-maxilla (bilateral primary palate cleft); malocclusions (open bite); oral nasal fistula
Most frequent kind of cleft
left unilateral
Lip repair usually (timing)
3 months
Palate (soft/hard) repair (timing)
9-12 months (often 18+ months, pierre robin); 20-30% need secondary, 4-5 years
Alveolar cleft repair (timing)
7-9 years
How many children w/ CL/P have ST in Kindergarten/1st grade
60-70% for arctic (reduced hearing, marginal VP function, abnormal dental/alveolar structures)
Dental/Alveolar anomalies of children w/ CL(P)
Missing teeth (misshapen/rotated when present)’ Supernumerary (ectopic) teeth (normal tooth in wrong position); Cross bites (lower teeth overlap upper); protruding prefixal; oro-nasal fistula
How many consonants involve alveolar/palatal structures?
16/24 (67%)
Hearing issues in children w/ CL(P)
high prevalence of ET dysfunction (due to abnormal muscle insertion into posterior hard palate order, horizontal position of tube in infancy)
Langauge delays in children w/ CL(P)
limited babbling, delayed first words (until AFTER palate repair)
Speech Characteristics do VPI in children w/ CL(P)
obligatory: hypernasality, ANE (audible nasal emissions) turbuluent/nasal flutter, weak pressure consonants; Compensatory: misartiuclations
Speech in CL(P)
respiration; laryngeal; arctic (m/b, glottal stop for p), resonance
Compensatory Misarticulations
manner maintained, place altered (posteriorly) to compensatory for structural defects
PSNE (Phoneme specific nasal emission)
Turbulent NE: production of sibilants/africatives (s, z, sh, j, ch, zzzsh)
Palatal shelves move together and fuse from ______ to ______. Interruption can lead to a ______
anterior to posterior; soft palate cleft (NOT isolated hard palate cleft)
Genetic causes of CL/P present it how many cases
20 to 50%
Family factors in CL/P etiology
younger and older fathers; subclinical abnormalities of orbicular oris muscle; prenatal health/teratogens (smoking x@ increase, actuate, anticonvulsants) need folic acid and not too much vitamin A
Embryos have two layers:
epiblast, hypoblast
Embryos have 3 germ layers
ectoderms (from epiblast), mesoderm and endoderm
Ectoderm
neural ectoderm- CNS and surface ectoderm- will cover outside of body
endoderms
gut
Embryo: developing brain shifts the cariogenic region more_______ and forms the _______
caudal, ventral; foregut
First pharyngeal arch (in embryo)
22 days (branchial, visceral arch)
1st and 2nd pharyngeal arch
27 days
Developing inner ear is called ____ and emerges day ____
the otic pit; 27
First pharyngeal arch has ____ & _____ prominences that form the _________
maxillary, mandibular; upper and loer jaw
Tongue comes from what pharyngeal arches?
anterior two thirds of tongue: first arch; posterior one third: 3rd arch
Following anterior neuropore closure, the ectoderm that will line the nasal cavities (olfactory places) is located _________
lateral aspects of frontonasal prominence
During the _____ week human gestation, the olfactory places line the nasal pits and medial and lateral nasal prominences form around nasal pits
fifth
Normal development of of the upper lip requires union of __________ which occurs during the _________ week of gestation
medial nasal prominence, lateral nasal prominence and maxillary prominence; sixth
The secondary palatal shelves are part of the _________
maxillary prominence
The ________ contribute tissue that forms the anterior part of the primary palate
medical nasal prominences
the tongue is initially interposed between the _______
secondary palatal shelves; they later become positioned above the tongue to allow for midline fusion
Secondary palatal shelves fuse____
anteriorly and posteriorly from midpoint
the 4 maxillary incisors develop within the _______
primary palate
spontaneous mutation
change in genes at formation of egg/sperm
deformation
abnormal structure/position due to mechanical force (more common in multiple births)
Disruption
defect caused by extrinsic breakdown/interference normal development
malformation
defect caused by intrincix abnormality; genetic (e.g. cleft lip, craniosynostosis)
sequence
one anomaly causing cascade of secondary anomalies
syndrome
multiple anomalies occurring together from single cause
van der Woude syndrome
lower lip pits w/ w/out cleft; autosomal dominant (50% recurrence)
Apert syndrome
synostosis of coronal suture –> long, vertical skull short from front to back; mid face hypoplasia; protruding eyes; prognathism; v-shape maxilla (palatal arch); Class III (severe) malocclusion; pseudo cleft palate, 30% true or SMCP; small pharynx w/ large soft palate (airway problems); channel atresia, tracheal anomalies, fusion on hands and feet (syndactyly); CNS problems (ICP, hyrocephalus, cognitive impairment); early surgery (
Pierre Robin sequence
Micrognathia (precipitating factor) –> glossoptosis (retracted tongue), respiratory distress, u-shaped cleft palate; common feeding problems, delayed cleft repair (50% part of other syndromes); distraction osteogenesis
Stickler syndrome
most common cause of pierre robin; micrognathia; flat facial profile & epicentral folds, myopia, risk of retinal detachment/cataracts; hearing loss; small nose/flat nasal bridge; mid face hyoplasia; cleft palate; progressive joint/orthopedic problems
hemifacial microsomia
spectrum; ear defomities, max/mandib hypoplasia; tongue ankylosis; 15% CL/P; VPI due to asymmetry/unilaeral paresis; tempromandibular joint disorders; colombomas (retina, upper eyelid); absent corpus callosum, hydrocephalus; cervical anomalies 15%; aka Goldenhar syndrom if eye cysts; 1 in 3-5,00; right > left but 30% bilateral; boys > girls; speech- dental malocclusion, limited mouth opening, CP or velar paresis
Velocardiofacial (VCF) syndrome
most common syndrome involving clefts; autosomal dominant; 75% micro deletion 22q11.2; FISH detects deletion; DiGeorge if thyroid involved; SMCP/VPI; ventricular septal defect; long face w/ ear anomalies; 40% cog impairment; pharyngeal hypnotic, slender hands, risk adult schizophrenia
Treacher Collins Syndrome (mandibulofacial dysostosis)
autosomal dominant; 1 in 50,000; eyes: coloboma of iris, missing lower eyelashes, downward slant, malaria hypoplasia; hypVPI/SMCP in 30-40%; small pharynx (*airway problems) cup-de-sac speech; ear ossicular malformations, deformities, hypo plastic TM/middle ear
Ectrodactyly-Ectodermal Dysplasia
“claw like” hands & feet; poorly developed skin, hair, teeth, nails; bilateral C>/P common; nasolacrimal duct obstruction; autosomal dominant; rare (260 cases)
Turner Syndrome
x chromosome disorder; short; hearing loss (conductive to sensorineural; high arched palate & retrognathia; learning disabilities
Fragile X Syndrome
most common cause of inherited cognitive impairment and known cause ASD; FMR1 gene mutation; mod to severe speech & lang delays; peculiar rate/prosody
Beckwith-Wiedemann Syndrome
pre & post natal overgrowth; risk of neonatal seizures/hypoglycemia; childhood hemi-hypertrophy;macroglossia (respiratory distress); kidney tumor risk
CHARGE Syndrome
retinal *Coloboma; Heart defects; choanal *Atresia(back of nasal passage); Retarded growth; Genitourinary anomalies (micropenis, undescended testicles); Ear anomalies; often cognitive impairment
Down (Trisomy 21)
1 in 700, most common chromosome disorder; cognitive impairment, hypotonia, short, nasopharyngeal resonance (low CL/P risk)
Fetal Alcohol Syndrome (now a spectrum disorder)
low birth weight, microcephaly, narrow palepbral fissures (eyes), thin upper lip, short nose, flat philtrum; VSD; cognitive/developmental delays: occasional CL/P
Neurofibromatosis Type 1
1 in 3,000; autosomal; neurofibromas; cafe au last spots; often VPI but no cleft
Craniosynostosis Syndromes
premature fusion of bony sutras restricting growth at right angles to fused sutures
Crouzon Syndrome
like Apert but no limb deformities; 1 in 25,000 births; mutation of chromosome 10 gene; synostosis of coronal and often sagittal and lambdoidal sutures
Maxillary advancement surgery (timing)
15-17 years
Double opposing Z plasty (furrow repair)
to reposition musculature of palate in more posterior position; oral and mucous w/ muscle, muscle moves posterior & flaps w/out muscle moves anterior; lengthens palate, puts muscle in normal anatomic positions; residual alveolar cleft remains
Rationale for 3-month Lip Repair surgery
10 weeks age, weigh 10 lbs, 10g hemoglobin for surgical safety; time to dx other conditions prior to surgery
rationale for 9-12 month timing palate repair
after 20 months, restricts maxilla & mid face growth; repair before 11 months less effects SO compromise 2-12 months; But 60s/70s excessive scarring which restricted growth of gum ridge/midface
Rational for 7-9 year Alveolar bone graft repair
based on emergence of permanent teeth in cleft area
American Cleft Palate Craniofacial Association (ACPA)
started by dentists; 35% dentists, 35% plastic surgeons, 16% SLPs to emphasis of surgical repairs on facial growth, aesthetics and teeth
Speech development and repaired status of CL/P
0-3 months cooing before lip repaired; 1-12 months babbling/first words before palate repaired; 1-2 years first words and combos before alveolar cleft repaired; 2-3 years rapid vocab/sentence growth, `80% speech should be intelligible before alveolar cleft repaired then mastery phonetic inventory
Artic problems due to dentition
lisping (dentalized- Class III malocclusion (underbite) or lateralized- posterior cross bit/lateral open bite); backed/retracted artic 9palatalized t, d, s due to narrow/collapsed maxillary arch/ONF)
Prevention of dental/artic problems in kids w/ CL/P
pre surgical orthopedics; early alveolar bone graft, early lip and palate repair (normal feeding/interactions more ONF)
Who’s on the team?? (cleft palate)
Core: SLP, Dentist (orthodontist), plastic surgeon; desired- ENT, surgeon, nursing, audiologist, geneticist, pediatric dentist, prosthodontist, OMF surgeon, psychologist, social worker
Focus of specialists over time
birth/infancy: feeding specialist, social worker, plastic surgeon; preschool/school: SLP & Psych; Middle/late childhood: dentistry/orthodontist; late adolescence/early adulthood: OMFS and plastic surgeon
Who’s on the team?? (craniofacial)
for ACPA recognition: neurosurgeon, ophthalmologist, @ least 10 cranial surgeries/year
Learning disabilities in children w/ CL/P
15-20% general population; 30-40% children w/ CL/P
Infant/toddler psychosocial issues
CPO below developmental norms at one year for motor, language, and play (CL only NOT); VP and Hearing Status account for cognitive/linguistic delays
Reading study- Zajac replication
Good readers use sight reading more than phonemic decoding to greater extent than poor readers for children w/ AND w/out CL/P
Maternal attachment predicted by
infant facial attractiveness (ugly=higher attachment); 84% CL/P and 54% CP)
Structural anomalies that disrupt “suck, swallow, breathe” cycle
CL/P; micrognathia; macroglossia; pharyngeal stenosis; laryngeal cleft; choanal atresia
Feeding problems of cleft palate
poor oral suction/ formula volume intake; prolonged time; nasal regard; choking & gagging; excessive air intake
What kind of cleft shows poorest weight gain (68% delayed surgery) ?
isolated cleft palate
Feeding concerns and interventions for cleft lip only
decreased lip seal and intra oral pressure; breastfeeding possible; bottle feeding using wide base nipple
feeding concerns and intervention for cleft alveolar ridge
may have decreased compression, lip seal, intraoral pressure and have poor bolus control; breast feeding possible (mother may manually seal lips to nipple); bottle feeding w/ easy flow nipple
feeding concerns and intervention for complete cleft palate
special bottle for feeding w/ clefts; soft nipple w/ large cross cut (increases flow and fluid control); supplemental breast feeding system; baby in cross cradle/football position & mother manually squeezes breast
For poor intraoral pressure/compression
Mother may manually squeeze bottle (soft plastic or plastic liners)
Orthodontic nipple
low flow; facilitates infant’s suck to develop proper tongue position
obturator (feeding plate)
orthodontic device to provide stable area for tongue compression, reduce nasal regurgitation, help infant generate negative intraoral pressure
Psychosocial adjustment of children with CL/P determined by degree of _______
parental support; higher with visible clefts
CL/P & Self-concept
CL/P less self-concept than CPO and CL; girls > affected than boys
Trigonocephaly
traingle-shaped forehead (metopic)
Brachycephaly
short head; coronal bilaterally
Dolichocephaly
long head; sagittal
Plagiocephaly
flat back of head; coronal & lambdoid unilaterally
Turricephaly
pointed top of head; coronal & lambdoid
Triad of SMCP
split (bifid) uvula; midlis divison/diastasis of muscles (aka zona pellucida); v-shaped notch of hard palate (palpate)
levator veli palatini
most important; pulls soft palate superior and posterior
tensor veli palatini
anchors to hummus bone; assists elevator to pull up palate
palatoglossus
anterior faucial pillar; elevates posterior part of tongue, maybe pulls palate down
palatopharyngeus
posterior faucial pillar; closes off entrance to nose
musculus uvulae
incrases bulk (surface area) of velum to contact, close off
muscles of the velum
curtain; levator veli palatini, tensor veli palatini, palatoglossus (AFP), palatopharyngeus (PFP), musculus uvulae
Superor pharyngeal constrictor
velo-pharyngeal closure
Occult SMCP
No visible features; facet in muscles uvulae (lack muscle bulk, seen as nasal trough on endoscopy, LVP insertion into hard palate)
Passavant’s ridge
short palate; treat surgically w/ z pasty
Pre surgical orthodontics
for severe (wide) clefts; to reduce width, align maxillary segments, reposition protruding premaxilla
Presurgical intraoral places
prevents medial mxaillary segment collpase; guides growth of maxillary segments; passive or active (w/ jack screws or springs)
Presurgical taping
traction
Surgery goals
avoid fistulas; competence velum for adequate speech (delayed goal)
Indications for fulow z-plasty
submucous cleft short; cleft posterior soft palate; v shaped cleft of entire soft palate; previous straight-line repair w/ inadequate length (5-10 mm)
indications for 2-flap palatoplasty
wider cleft of soft palate; u shaped clefts; cleft entire secondary palate
indications for vomer flaps
wide anterior cleft; bilateral cleft; redo palatoplasty for large fistula
intravelar veloplasty
separation of muscle from poster edge hard palate; free underlying nasal w/ overlying oral layer; suture muscle as separate layer to recreate velar sling
Velopharyngeal Insufficiency
inadequate function of soft palate; hyper nasal speech (telex, nasoendoscopy)
Nadoendoscopy closure patterns
coronal- soft palate posterior movement (min lateral pharyngeal wall contribution); circular- posterior displacement of soft palate AND medial displacement of lateral pharyngeal walls
Muscles of ET
tensor veli palatini (dilator rubae inferior bundle); levator veli palatini
Causes of ET dysfunction in CP (high prevalence)
abnormal insertion of muscles into posterior border hard palate; pliant; wider nasopharynges; horizontal (during infancy)
Result of ET dysfunction
bilateral conductive hearing loss, mild-moderate; negative middle ear air pressure (retraction TM, bacteria from ET drawn up, fluid to effuse from middle ear mucosa)
Otitis Media types & sequence
OME (w/ effusion)- fluid in middle ear w/o symptoms; AOM acute- symptoms of infection
Otitis media in children w/ CP
> 95%; early myringotomies and PE tubes (usually at time of palate repair or lip repair if needed; increase risk for cholesteatoma) BUT 70% still had after palate repair ; in CL only: 22% (19% control)
If bilateral ear atresia
bone-conduction aids; BAHA implanted
Non-cleft causes of VPI
occult SMCP; short velum/deep nasopharynx; post adeniodectomy; adenoid atrophy; mechanical obstruction (posterior pillar web or tonsils) ; neuromotor involvement (CN infection)
Effects of large adenoids
sleep apnea; hyponasality; adenoid0assisted VP closure
Articulation difficulty in children with CL/P and VPI
nasalized plosives; hypernasality; reduced volume; nasal air emission; wak oral pressure; omissions, sub, friacative & affricate>plosive>glide; l and r; more voiceless than voiced; tongue tends to be high and retracted
Compensatory misarticulations in children with CL/P
Place change posterior to preserve manner (pharyngeal fricative, glottal stop); 25-30% of children w/ CL/P
cul-de-sac resonance
pharyngeal cavity resonance; due to obstruction (from tonsils, small jaw & glossoptosis; VPI anterior nasal blockage)
