1.) Blastogenesis

2.) Embryogenesis

3.) Fetogenesis

day 0-10

Includes: zygote (joined ovum and sperm)

- morula 12-32 cells

-blastocyst - embeds in uterine wall around day 5-6

day 16-75

the gastrula - made around the 14th-20th day forms 3 germ layers

1.)ectogerm 2.)endoderm 3.)mesoderm

ectoderm

the mandibular arch:

-meckle's cartilage,

-mandible,

-malleus and incus

-maxilla

-musc of mastication

- tensors (tympani and veli palatini) 

CN V3

reicherts cartilage

stpes

styloid

stylohyoid ligament

upperpart hyoid

facial muscles

stapedius

stylohyoid

facial nerve

the greater cornu and lower hyoid

sylopharyneus

glossopharyngeal nerve

thyoid cart

pharyngeal muscles

vagus

cricoid

aryteniods

laryngeal muscles

Recurrent laryngeal nerve

prosencephalon (forebrain)

mesencephalon (midbrain)

rhomencephalon (hindbrain)

epithelial - surface tissue cells

mesenchymal - stem cells that can be stimulated to differentiatein to muscle, bone, cartilage, fat, nervous tissue etc

the mesenchymal cells. 

The epithelial cells did their job building a tissue bridge

(a submucosal cleft is an example of this)

different parts of the lateral midface have to come together

there is a small space (stomaleon, which will form mouth)

The max and mand prominences need to form around this small space, then meet in open space and form a bridge between them

gets messed up = cleft

first fuse with premaxilla, then lateral sides of palatal bone join first in front them back, 

then epithelial forms over the hard and then the soft palate 

by week 9

then soft palate starts, but takes about 3 weeks to finish

1.) formation of the primary palate (fusion of the premaxilla and the alveolar ridges)

2.) formation of the secondary palate (median fusion of the lateral palatal shelves)

6 wks - lips complete

9 wks - hard palate complete

10 wks - soft palate complete

12 wks - uvula complete

something abnormally small

(mircrotia)

too much of something, (abnormally large tongue etc) 

can be with or without dysplasia

primary - epithelium bridge between the diacephalic structures (lips, alveolus, palate, velum) not formed

secondary - epithelium bridge established but undifferentiated epithelial tissue has not been replaced with mesenchymal stem cells 

- genetic disposition 

-toxic substances

-parent's ages

-lack of vitamins

-malnutrition

-psychosocial stress

-trauma

- the multifactorial threshold model

- the major gene model

rubella

thalidomide

narcotics

alcohol

anticonvulsants

acne meds

cigarettes

lack of vitamin b

Combination of a complete cleft lip and palate (left)

with an incomplete cleft lip and alveolus (right)

Goldenhar's Syndrome (Oculoauricovertebral) Spectrum

facial asymetry

spinal anomalies

microtia with hearing loss

ocular anomalies

cleft palate (lip too, lateral clefts)

heard disease

What can be cleft? ( in lip and palate area)

(4)

lip, alveolus, hard palate, soft palate

1.) unilateral vs bilateral

2.) incomplete vs complete

3.) what is cleft (lip, alveolus, hard palate, soft palate)

1.) Bifid Uvula

2.)Velar midline furrow (zona pellucida) - blueish midline and the midline of the soft palate

3.) Hard palate notch (absent post nasal spine) can feel along border of hard palate

4.) Instertion of levator muscles into hard palate

Endoscopically, will see a midline groove during velar elevation ( in lieu of a velar eminence)

- looks like a bifurcation of the muscles

No

not unless the patient exhibits symptoms of VP dysfunction (like hypernasality and nasal regurgitation)

NO

only if resonance or feeding are impacted

What is an occult submucous cleft?

bifid uvula not present

its a cleft of the soft palate

MRI will show diastasis of the uvular muscle

muscular bulk defect in soft palate

midline groove in velum during endoscopic exam

includes a right lateral cleft,

aplasia of the right pinna

atresia of the right ear channel

bilateral preauricular dysplasias

Right side is only side affected

congenital absence of an organ or tissue 

(like the right pinna in Goldenhars)

A condition where a body orifice or passage is absent or closed

(microtia is a type of this, absence of the ear canal)

breathing

swallowing and facial muscle function

speech

hearing

facial esthetics

dental esthetics

self concept and psychosocial development

Plastic surgeon

Pediatrics

Dentistry and Orthodontics

ENT

Audiology

Social Work

Speech Therapy

- no one professional can deal with all aspects

- care needed over long period of time

- surgery / therapy need to be coordinated

- too much work for families to make all appts on own

- high patient volume and specialization ensures docs are getting lots of practice etc

1.) multidisciplinary - care provided independently by diff professions, interaction limited

2.) Interdisciplinary - pros from various disciplines work together to coordinate care

3.) Transdiciplinary - pros from diff disciplines truly understand eachothers tasks 

1.) lip closure surgery (6mos)

2.) palate closure surgery (around 9mos-1yr)

3.) Speech therapy (3 yrs ish)

4.) Velopharyngoplasty (age 6, only if necessary)

5.) Orthodontic treatment

6.) Secondary alveolar bone graft (age 10)

7.)Orthognathic surgery at age 18 (if necessary)

they prevent the tongue from going into the nasal cavity

believed to be helpful for swallowing and oro motor dev

can double as orthodontics to help guide growth of maxilary arch

very little proof for their treatment efficacy (swallowing, oromotor, speech)

can be bothersome for child, nerveracking for parent

- have to get redone all the time

risks of taking molds of baby's mouths, breaking jaw etc

What is nasoalveolar molding?

(2 parts)

1. intraoral molding plate guides growth of alveolar ridges

2. using medical tape to keep sides of the cleft together, helps nose to stay more symetrical

promotes sym growth of the nasal cartilage

1.) Primary - provide functionally adequate and esthetically pleasing surgical reconstruction

2.)Secondary - additional secondary corrections if the primary goal not attained 

lip closure

palatal closure

alveolar bone grafting

dental implants 

- palatal operations (palatal flap, pharyngoplasty)

-orthognathic and dental surgery

-aesthetic plastic surgery of the lip and nose

- close cleft lip

- reconstruct orbicularis oris

- reconstruct the philtrum and cupids bow

form anterior floor of the nose

restore nasal symmetry

a bone transplant is inserted into the alveolar cleft to close the bone defect

then the lateral insisor or canine can grow

Timing is crucial, needs to be done exactly when adult teeth coming in in that spot

restore the roof of the mouth

(achieved by soft tissue transposition only)

bone defect remains open

assoc with syndrome - 30%

non-syndromic - 70%

syndrome - recurrent pattern of symptoms of a multi anomaly disorder that are related to a single cause (ex Downs, causes big tongue, and cog impairment, one didnt cause the other)

Sequence- recurrent pattern of symptoms of multi-anomaly disorder are rel to an initial anomaly (like chain reaction) - ex: small skull, then eyes bulge.. other issues

Association - not clear if there is underlying common etiology - ie its when you can't figure out what it is 

deformation - cause is extrinsic (mechanic stress such as bending or compression)

malformation- cause is intrinsic, its developing that was cause its genes told it to

Normal 

Hypertelorism - eyes really far apart

Telecanthus - eyes are too far apart but pupils are normal width apart (looks cross eyed)

Hypotelorism - too close

Eyes are too far apart but pupils arent

makes it look crosseyed

What is normal ear placement

club foot

amnion rupture sequence

pierre robin sequence

micrognathia

glossoptosis

cleft palate

Downward displacement or retraction of the tongue (happens in Pierre Robin Sequence and Downs)

- can make the airway small and therefore get blocked easily

type 1 - tongue displacement contacting post pharyngeal wall below soft palate level

type 2- tongue compresses the soft palate which occluded the airwats

type 3 - due to contraction of lateral walls of the pharync

type 4- sphincter contraction of the pharynx

- Trach or gastric tube (try to avoid)

- Glossopexy (ant fixation of the tongue)

- Mandibular distraction (weight on mandible to promote growth)

- Mandibular distraction osteogenesis

mandible is cut and distractor insterted

this device elongates the bone 

(done at age 3-4)

for kids with pierre robin sequence

- b/c of airway probs, diff coordinating suckling, swallowing, and breathing

- affects forward thrust of the tongue and mandible neccessary for suckle feeding

-cleft doesnt allow for build up of neg intraoral pressure

-tendency for reflux

- positioning

- pacifier to encourage forward movement of the tongue

modified nipples and bottles

nasogastric tube

reflux meds

- deformation, mechanically induced - mandible will show a 'catch-up' period 

- Malformation, congenital - mandible will not catch up, no more growth

- Stickler syndrome

-22q11 deletion syndrome

Treacher Collins

Moebius

FAS

Van-der-Woude Syndrome

Stickler Syndrome

Velocardiofacial Syndrome

Beckwith Wiedemann Syndrome

Down Syndrome (Trisomy 21)

Fragile X syndrome

Moebius Syndrome

Goldenhar Syndrome

Treacher Collins Syndrome

Holoprosencephaly syndrome

-cleft lip and or palate, paramedian pits of the lower lip (lower lip fistulae, or bumps)

[image]

- looks similar to pierre robin at first (these people often have PRS too)

BUT

Also will be progressive arthopathy (joints stiffen), progressive myopia and progressive sensorineural hearing loss

[image]

- velar abnormalities- cleft palates (occult or submucous)

cardial abnormalities- conotruncal malformations

facial anomalies - prolonged midface

other- delated psychomotor, language

inc psycholathal disorders 

Thymus hypoplasia 

what are some facial characteristics of 22q11?

[image]

rel small mouth 

long bet socket of eye and lips

open mouth postrue

oro facial hypotonia 

1/2000

90-95 are not inherited

5-10% inherited

majority have speech and language impairments and delays

hypernasal resonance common

75% have palatal anomaly

74% have hyernasal speech

62% severe artic impairment

- resp/phonatory disorder (hi pitched, strained voice)

low muscle tone in face

anxiety, phobias, social immaturity, ADHD

also 30% risk of schizophrenia and bipolar

tonsils taken out

child becomes hypernasal for a long time after

shows VPI then they get diagnosis 

Babiesa are large at birth, have accelerated growth, macroglossia, mandibular prognathism and enlargened internal organs

they also get hypotonia and cog impairment

Extra chromosome 21

flat back of the head

upslanting eyes

hypotonic protruding tongue

short neck

obesity

maxillar hypoplasia

can have cleft lip and palate

variable cognitive impairment

life exp 30-40 yrs 

- with language, preservations, echolalia, jargon, cluttering

- delayed onset of speech

-speech probs may be rel to clefts

- malocclusion / dental anomalies

- long face

- the 6th and 7th facial nerve palsy - usually bilateral

sometimes CN involvement

skeletal anomalies 50%

mask like expression

limited tongue mobility (CN XII)

lip incompetency,

ocular ptosis

limb anomalies

speech anomalies

chronic OM

mild cog imp

lip incompetency, tongue hypoplasia, VPI

(all rel to paralysis of muscles)

-muscle transplantation and nerve grafting

- oral motor therapy

malformatio of the branchial arch

facial asymetry

spinal anomalies

macrotia w/hearing loss,

cleft palate, lip

occasional heart disease

malformation of 1st branchial arch

maxillar and mandibular hypoplasia

microstomia with downslant of the corners of the mouth

downslant of eyes

cleft of lower eyelid

dysplasia of pinnae

middle and inner ear malformations

severe congenital dysplasia

incomplete differentiation fo the prosencephalon

hypotelorism (or cyclopia)

reduced nasal height and width

aplasia of nasal septum

cleft lip/palate

deformations of tonuge, fingers and toes

sometimes spina bifida too

underdev frontal lobes 

not good

severely impaired psychomotor dev and usually death within the year

Apert's

Crouzon's

Pfeiffer's

Saethre-Chotzen

Oxycephalus, turrincephalus

- caused by coronal dyscraniosynostoses

NO!

lots of variation in different people

metopic dyscraniosynostosis

(a bit of an egghead)

premature closure of the sagittal suture

fronto occipital voluem is increased and coronal sutures may be palpable

hypoplastic midface

exophtalmus at birth

frontal open bite and lateral crossbite

pseudo prognathia

APerts syndrome

dyscraniosynostosis (coronal esp)

syndactyly

hydrocephalus

cog imp

cleft

hypoplastic maxilla

dyscraniosnostosis (coronal sutures mostly)

lots of involvements of limbs

hydrocephalus

cognitive imp

cleft (30%)

class 3 malocculusion

cranial vault reshaping 

CPAP, trach

ventilation tubes for middle ear

Shunts

Orthodontics

craniosynostosis of multiple sutures

maxillary hypoplasia

exorbitism

hearing loss

cog imp

sometimes cleft palate

progressive synostosis of both sides of the coronal sutures

cloverleaf skull

hypertelorsism

broad thumbs and toes

Dominant mutation on chromosome 10

craniosynostoses - coronal suture, brachy/oxycephaly

sometimes cleft palate

maxillary hypoplasia

low frontal hairline

50% passing to children

1- ventilation of the middle ear

2 - regulation of oral-nasal airflow

3 - prevention of nasal regurgitation

4- prevention of pre-deglutitive aspiration

5- contributes to bolus propulsion during swallowing

6- oral-nasal balance for speech artic

the Levator Veli Palatini

slings around pterygoid hamulus, which changes its direction of pull from vertical to horizontal

opens the eustachian tube

laterally stretches the velum

- forms the levator sling

- velar elevation

- eustachian tube opening

(loops around  hamulus, pulls velum posteriorly)

intrinsic flexion and shortening of the velujm

forms velar eminence that helps fill the space bet the elevated velum and the posterior pharyngeal wall

X, IX and VII

WTF????

gag- very high

speech - not so high, because might have a nasal sound next and have to go right back down again

regular swallow - elevated a bit

forced swallow- quite elevated

males need to elevate the velum higher and more posteriorly to achieve complete clorues (BC their nasopharynx is larger and wider)

Uvula might provide extra elevation to help those with really long nasopharynxes to close

children - small and narrow, adenoid pad at post pharyngeal wall is large

therefore

child needs less effort to close than an adult

Coronal

Sagittal 

Circular

Circular with passavants ridge

mainly velar elevation

velum comes up and does the work

the lateral pharyngeal walls move towards the midline

(less frequent)

combined velar elevation and lateral wall approximation

(so a little sagittal and a little coronal)

its formed by contraction of a hypertrophic segment of the sup pharyngeal constrictor muscle

- can be in different spots, usually about where you want to see closure)

allows pers with inadequate vp movement still get closure

- hypernasality

-hyponasality

- mixes nasality

- cul-de-sac nasality

-alternating nasality

Turbulence- nasal rustling noises, like fricative bet post pharyngeal wall and velum

Emission - air flowing through nose uninhibited

- morphological analysis

- functional analysis

- perceptual and acoustic analysis

- direct visual inspection

-endoscopy (flex vs rigid)

- multiview videofluoroscopy

-tongue anchor technique

-mirror test

gutzmanns i-a test

aerodynamic measures

EMG

Haskings Velotolerance

bifid uvula

velar midline furrow

hard palate notch

insertion of the M levator into the hard palate

full closure

.5 is half closed

o is no movement

nasometer

NasalView software

ORonasal system (speech buddy)

- all detect nasalance

The Zoo passage

The Nasal Sentences

Rainbow Passage

SNAP test - for small kiddos

antibiotics help in acute inflammation

syringotomy - sucking fluid out

myringotomy - tubes

palatoplasty - indirectly helps 

False

all babies tongues are too big for the oral cav so initiail sound swill be glottal and hypernasal because VP controle is insufficient

this is true for typical AND CP babies

non CLP - sounds start at the front (mama, dada)

CLP - sounds start at the back (glottal, pharyngeal)

m, b, j, n,w,d, p, h

What are the processes in cleft lip and palate artic disorders?

Oral-Nasal Balance

hypernasality

can be functional or organic

hyponasality

can be functional (rare) vs organic

Velopharnygeal Insufficency

Velopharyngeal Incompetency

Velopharyngeal Mislearning

What causes non-cleft velopharnygeal insufficency?

1- mechanical insufficency (tonsils, adenoids, post pillar web)

2- palatopharyngeal disproportion (cervical anomalies, flattened crainal base)

3 - Ablative palatal lesions (cancer, traumatic injury)

1- unrepaired palatal clefts (overt, submucous, occult submucous)

2- post surgical insufficenct ( post-palatal closure, fistulas etc)

dysarthria (primary motor control issue)

apraxia (motor programming issue)

phoneme specific nasal emission

persisting post-op nasal emission

compensatory misarticulation

deafness

organic - velopharygeal insufficency

functional - velopharyngeal incompetence (ie should work, but person just cant do it)

organic - septum deviation, hypoertrophic turbinates

functional (rare)-  protective, reaction to autophonia

autophonia

swelling in mucosa in eustachian tube

ET always open, speak into middle ear

What can cause mixed nasality?

Rhinophonia mixta?

combo of VP dysfunction and blocked nasal passage

frequent in unilateral cleft lip and palate

anterior blocked nasal passage

sometimes used to denote severe anterioir hyponasality

frequent in unilateral cleft lip and palate 

VP mech is out of snyc with other speech articulators

nasalization / denasalization occur in a random fashion

symptom of neurogenic speec hdisorder such as spastic dysarthira

- rare and this category rarely used

non turbulent - gap too big - surgery

turbulent - indicates VP close, work on better closure

- close vp approximation

- do therapy

structural VP insufficency

oro-nasal fistula

vp incompetence rel to neurological damage

VP mislearning

phoneme specific nasal emisison

persisting postoperative nasal emission

a visually distracting and unfavourable flaring of the nares

can be a subconcious compensatory attempt to reduce nasal escape

- put patient in front of mirror 

VP insufficency

Oro-nasal fistulae

usually surgery (physical management)

therapy is useless here 

NO

waste of time don't do it

speech mislearning (usually in respo to structural inadequacies such as VPI etc)

- ex: using nasal fricatives instead of oral fricatives

Category I - no therapy, surgery needed

Category II - dont do surgery, just do therapy 

the posterior nasal fricatives

- maladaptive placements

- backed articulations

- learned strategies

- adaption to insufficent VP closure

commonly, in CLP speech there will be a glottal stop along with other sounds ,

ex: simultaneous /t/ and glottal stop

because you can produce a sound there before the VP bifurcation, so they are still in control of the sounds there

- clp kids will often make a /k/ pharyngeal

post nasal fricative (unique to CLP)

mid dosrum palatal stop

velar fricative

pharyngeal stop

pharyngeal fricative

pharyngeal affricate

glottal stops

tip up: at alveolar ridge

tip down - buccal position

almost like a snort

frication at vp valve - will get audible nasal emission

nasal fricatives

(often tongue placement is good, if you held the nose shut you would get a perfect sound)

as a sub for /f/ when there is type 3 malocclusion.

When have underbite hard to get labiodental approximation

a substituion means its substituted with another sound in the language's repetoire

a compensatory artic is not in the language's repetoire

* so is lang specific

active nasal fricative - oral cav completely sealed, nasal cav is where all the air is coming out

Passive nasal fricative - nostril pinched, nasal cav i only secondary resonator

1st level - resonance disorders

2nd level - disorders of artic

3rd level - disorders of voice and fluency

A theory of why cleft patients might have more voice disorders

(say that there are air pressure sensor in oral cav, in cleft speech they arent getting enough stim, so rep pump its like 'hey, we need more air pressure!' then these clients get lots of airflow, run out of air fast, have clavicular breathing and there will be duress on v folds

research points to yes but numbers are all over the place

.6% to 41%

they would argue that you have to treat any voice disorder first

- obtaining an adequate speech sample

- analysis of the speech sample

- correlation of the speech findings to orofacial structures

- interpretation of clinical data

YES

Iowa Pressure Artic Test

Bzoch Error Patterns Diagnostic Artic Test

- surgical therapy

- prosthetic therapy

- conservative speech language therapy

- Velopharnygoplasty - inferiorly besed pharyngeal flap

- Velopharyngoplasty -Superiorly based pharyngeal flap

-Augmentation pharyngoplsty

-Orticochea sphincter pharyngoplasty

it gets thinner

so surgeons try to make them as thick as possible without causing sleep apnea etc

adding bulk to the pharynx

good immed results but not long term

(soft tissue, cartilage, other materials added for bulk)

creates a fistula for nasal airway

pharyngeal tissues brouch to form a web

attached to sides of pharynx, not base of tongue

-marked hypernasality with laminar nasal air emission

- a sufficient course of speech therapy (min 10 sessions) has not improved problem

- there is velopharnygeal frication - indicates 'almost, but not quite' closure

- hyponasality or cul-de-sac resonance

- normal articulation ( cul-de-sac condition automatically improves speech - ie plugging kids nose)

- circular closure pattern and/or active lateraly pharygneal walls/PAssavant's ridge

- no cognitive and socio-behavioural impairments

- pharnygoplasties - for coronal velar activity (flaps)

- velopharyngoplasties - require sagittal or circular velopharyngeal activity

facial appearance

accompanying grimace/nasal flaring

speech bulb prostheses

palatal lift prostheses

obturator reduction therapy

bogenhausen palatal lift prosthesis

have to have dental impression. pharnyx taken

clients become very reliant on these, its the only thing that helps their speech

gives the velum a 'leg-up'

shoehorn type thing

- mild hypernasality/stimulability

- inconsistent artic and simulabitily

- inconsistent hypernasality

-neurogenic oral motor dysfunction (dysarthria, apraxia)

- behaviour mod after secondary surgery

air paddle

tactile feedback

'see scape' visual feedback

auditory feedback with nasal tube

cul de sac feedback

nasalance feedback

airflow feedback

1 - can get better right away

2 - can get cul de sac resonance bc child still really trying to force air out nose

continuous positive air pressure

- treatment for snoring and sleep apnea

thought that it might help to strenthen the VP sphincter

(like resistance training)

- use VNCV sequences (imbim hamper) that req quick lowering and elev of velum

Down Syndrome

Trisomy 21

VP friction - indicates 'almost there' closure

HYponasality

Phoneme specific VPI

lateral

frontal 

base

intravelar veloplasty

furlow palatoplasty

pharyngeal flap

sphincter pharyngoplasty

post wall augmentation