L10 Craniofacial Anomalies Flashcards
when does facial formation occur
between the 4th and 8th week of pregnancy
what are the five prominences that form the face
- one frontonasal prominence
- two maxillary prominences
- two mandibular prominences
what part of the face does the frontonasal prominence form
forehead, nose and central part of each lip
what part of the face do the maxillary prominences form
upper jaw, lower half of cheecks, and the skin muscles and nerves of these areas
what part of the face do the mandibular prominences form
lower jaw, lower half of cheecks and skin muscles and nerves of these areas
are fusion lines visible
no, apart from the philtral columns, which are a normal part of the upper lip
by what week of pregnancy has the palate formed
week 11
what part of the palate develops first
the primary palate (anterior part lying in front of incisive foramen)
how does the secondary palate form
The palatal shelves elevate and fuse in the midline to form the complete palate
basic cause of cleft lip and palate
a failure of complete fusion of the various prominences
does unilateral cleft lip usually require SLT
not for speech, maybe for feeding as a neonate
cleft lips and palates affecting speech
- Unilateral cleft lip and palate
- Bilateral cleft lip and palate
- Cleft of hard and soft palate
- Cleft of soft palate
- Sub mucous cleft palate
what is a sub mucous cleft palate
Oral mucosa is intact but the underlying muscles of the soft palate are abnormally inserted into the posterior margin of the hard palate resulting sometimes in impaired soft palate function.
three classic signs of sub muscous cleft palate
- Bifid uvula
- Palatal notch - palpable V shaped notch in the posterior boarder of the hard palate which you can feel.
- Zona pellucida (not always present) - translucent central zone due to muscle diastasis.
syndromes associated with cleft lip and palate
- Treacher Collins
- Aperts
- Van der Woude
- Prader-Willi
- Beckwith-Wiedeman
- 22q11 Deletion Syndrome
other names for 22q
DiGeorge Syndrome and/or Velocardiofacial Syndrome
catch-22
22q
C - Cardiac defect
A - “Abnormal” facial features
T - Problems with the thymus gland and reduced immunity
C - Cleft palate/Palatal abnormalities
H - Hypocalcaemia, calcium deficiency
22 - Deletion of chromosomal material on chromosome 22
communication profile of 22q children
- VPD
- Glottal articulation/clicks/pharyngeal fricatives
- Childhood apraxia of speech (CAS)
- Dysarthria
- Language delay (mainly expressive)
- Voice disorders
- Lanryngotracheal abnormalities
other features of 22q
- Intellectual disability
- Psychiatric diagnosis e.g. schizophrenia
- Anxiety issues
- Autistic Spectrum Disorder
- Attention Deficit Hyperactivity Disorde
when does surgery for primary repair of cleft lip occur
-6 months in 1 or 2 stages
when does the surgery for primary repair of cleft palate occur
6-12 months of age in 1 or 2 stages
when does secondary speech surgery occur
after 3 years of age
when does lip revision surgery occur
after 4 or 5 years, but usually child is closer to 10
when does alveolar bone graft surgery occur
when the child is 10/11
what is alveolar bone graft surgery
when a piece of one from hip brought to mouth for support of adult dentition
when does orthognathic surgery occur
wen the person is at least 17
what other surgeries can be done for a child with cleft
- Palate re-repair (intra-velar veloplasty)
- Pharyngeal flap pharyngoplasty
- Buccinator flap palatal lengthening.
- Pharyngoplasty
what is an oronasal fistula
A hole or opening in the palate after cleft palate repair
what causes oro-nasal fistula
- Caused by breakdown of tissue during the healing process post surgery
- Can open after maxillary expansion or growth
what is a residual cleft
Unrepaired cleft of hard palate or alveolus which is deliberately left open to be closed later
when does a residual cleft occur
- Occurs when a child has a very wide palate and there’s not enough tissue to repair the whole cleft
- Happens very rarely
normal feeding process
- Combination of compression and suction to extract milk from bottle.
- Compression - positive pressure on teat i.e. when teat is placed between the tongue and palate.
- Suction - negative pressure created within the oral cavity i.e. lower jaw drops and tongue and nasal cavity is sealed off resulting in an enlarged sealed chamber.
- Compression helps to push milk out of teat and suction results in milk being extracted from teat.
do all babies with cleft have feeding issues
- Babies with a cleft lip or small cleft of the soft palate may feed without difficulty.
- Babies with larger clefts may have difficulty feeding due to not being able to create suction.
common difficulties with cleft
- Poor oral suction
- Weak suck
- Difficulty holding soother in mouth
- Poor intake with lengthy feeding times
- Nasal regurgitation
- Intake of excessive air due to cleft
- Fatigue (expend excess energy)
- Poor weight gain (too much time spent on feeding)
do children with cleft have a higher chance of hearing loss
- yes
- high incidence of otitis media with effusion in cleft children
- OME causes conductive hearing loss
how is OME treated
with grommits
effects of cleft on dentition
- Cleft palate can produce variations in number, enamel formation and eruption of teeth in the affected area, with the lateral incisor being most affected.
- Alterations of tooth development in other areas can also occur:
- missing, fused or peg-shaped teeth
- delay in tooth formation and eruption of secondary teeth
- teeth are generally smaller than those in the non-cleft population
do cleft dental anomalies have an effect on speech
- a minimal one
- e.g a missing lateral incisor can cause the tongue to protrude through the space resulting in minor articulation errors
what is class III occlusion
when the upper jaw grows to a lesser extent than the lower jaw, meaning the lower jaw protrudes
class II occlusion impacts on speech
- here is a lack of maxillary space and so the tongue may have insufficient space to function. Therefore
anterior tongue tip sounds can be produced by the blade of the tongue, causing lateralisation and palatalisation of consonants. - In severe Class III malocclusions it may be difficult to achieve labiodental placement for /f/ and /v/, resulting in bilabial fricatives or dentolabial fricatives.
how is class II occlusion treated
surgically corrected by a maxillary osteotomy
what does the velopharyngeal port do during the production of nasal sounds
normal velopharyngeal function
remains open
what does the velopharyngeal port do during the production of oral sounds
normal velopharyngeal function
closes
weak pressure consonants
/w, l, j, ɹ,h/
oral pressure consonants
/p, b, t, d, k, g, f, v, s, z, ʃ, ʒ, ʧ, ʤ/
what is velopharyngeal dysfunction
Occurs when the velum (soft palate) doesn’t close at the base of the nasal cavity the way that it should
what does VPD stand for
velopharyngeal dysfunction
what classification of VPD does cleft cause
Velopharyngeal insufficiency (stuctural)
examples of cleft VPI
- Unrepaired cleft palate (overt or submucous)
- Post surgical insufficiencies (short palate, post adenoidectomy)
three kinds of non cleft VPD
- velopharyngeal insufficiency (structural)
- velopharyngeal incompetency (neurogenic)
- velopharyngeal mislearning
examples of non cleft velopharyngeal insufficiency
- Mechanical interference (eg. excessive tonsils or posterior pillar webbing)
- Palatopharyngeal disproportion (deep pharynx)
- Common in 22q children
- Ablative palatal lesions (eg. cancer, traumatic injury)
- Shrinking adenoids
examples of non cleft Velopharyngeal Incompetency
- Congenital or acquired primary motor/neuromotor control (dysarthria)
- Motor association/motor programming (apraxia)
examples of velophryngeal Mislearning
- Phoneme specific nasal emission
- Persisting post operative nasal emission (with adequate closure ability
- Compensatory misarticulations
- Deafness/hearing impairment
effect of VPD on resonance
hypo/hyper nasality
measurement of hypernasality
Temple Street Scale of Nasality and Nasal Airflow (Sweeney, 2000 & 2011)
a)mild: evident but acceptable.
b)mild-moderate: unacceptable distortion , evident on close vowels
c)moderate: evident on close and open vowels.
d)moderate – severe: evident on all vowels and some consonants.
e)Severe: evident on all vowels and most voiced consonants
measurement of hyponasality
Temple Street Scale of Nasality and Nasal Airflow (Sweeney, 2000 & 2011)
a)mild: evident, but acceptable.
b)moderate: all vowels reduced nasality
c)severe: total denasal production of nasal consonants
what are nasal airflow errors
errors which occur when there is an inappropriate escape of air through the nose during speech.
two types of nasal airflow errors
- nasal emission (perceived as a frictional sound)
- nasal turbulence/snorting
how are active cleft speech characteristics treated
speech therapy
how are passive cleft speech characteristics treated
monitoring/surgery/prosthetics
what are active cleft speech characteristics
articulation is altered in response to previous or present abnormal structure (Golding-Kushner 1995)
what are passive cleft speech characteristics
when articulation is normal but the abnormal structure results in distortion of the speech sound (Golding-Kushner 1995)
examples of anterior cleft speech characteristics
active
- Denasalisation
- Lateralisation
- Palatalisation
examples of posterior cleft speech characteristics
active
- Backing to velars
- Backing to uvulars
- Double articulation
examples of non-oral cleft speech characterstics
active
- Pharyngealisation
- Glottalisation
- Active nasal fricatives
examples of passive cleft speech characteristics
- Weak/nasalised consonants
- Nasal realisations of fricatives and/or plosives
- Absent pressure consonants
- Gliding of fricatives and affricates
how to tell if a nasalised fricative is active or passive
**Nose holding test:** is it a passive or active nasal fricative - Hold child’s nose and ask them to produce affected fricative eg. /s/
- Passive: makes /s/ sound stronger
- Active: blocks the sound altogether
