PRAXIS: CLEFT PALATE/CRANIOFACIAL ANOMALIES/GENETIC SYNDROMES

clef lip

opening in closed structure that should not be there (mouth in this scenario)

more often unilateral

congenital

cleft palate

opening in hard palate that should not be there

when do the facial features develop in utero?

3 - 8 weeks

stomodeum

primitive mouth and nose developed in utero (3 - 8 weeks)

develops into the frontonasal process which includes upper lip and primary palate

maxillary process

forms most of mouth, cheeks, and face in utero

when does the lip/alveolar ridge close in utero?

7 weeks

mandibular process

forms lower jaw/chin/lips in utero and all fuses together by 4th or 5th week

when is growth of the hard/soft palates identifiable in utero?

5th week

submucous cleft

tissue of hard/soft palate fuse but underlying muscle/bone tissue does not

makes a lack of muscle tissue/positioning

bifid uvula might also be present

kid with this usually has hypernasal speech

treatment must be medical

congenital palatopharyngeal incompetence

velopharyngeal closing valve is impaired

laryngeal structures can be normal tho

hypernasal speech that can be helped with therapy or medical

hearing loss and clefts

HL, otitis media, and Eust tube dysfunction are common in kids with cleft palates.

ETD probo from lack of contraction of tensor veli platini. after surgery this can be improve but might never be ‘normal’

SSD and clefts

most issues are with unvoiced sounds bc there’s no voicing, just muscle work

biggest issues are sibilants (/s/), high pressure stops (/b/ /p/) and fricatives (/f/)

lang disorders and clefts

delayed lang development but gets better as they grow older

usually good receptive but delayed expressive language

laryngeal/phonation disorders and clefts

more likely to have vocal nodules, hypertropy and edema of VF, vocal hoarseness, and hyper/hponasality

treatment of SSD in cleft

treat in order of sounds → syllables → words → phrases → sentences

teach more visible sounds before less visible ones

stops and fricatives first

/k/ and /g/ might be inappropriate goals if velopharyngeal functioning in inadequate

use auditory and visual ques

minimal pairs can help, no proof for OMEs

treatment of lang disorders in cleft

work with parents to stimulate expressive communication

treatment of resonance disorders in cleft

IF BC VPI: don’t treat until surgery

if kid is hypernasal that can be helped through SLP therapy

Angelman Syndrome

chromosome 15 is duplicated from dad or deleted from mom

diagnosed between 3 and 7

developmental delay, seizures, jerky/stiff gait, happy and easily excited, short attention span, and hypermotoric behavior

very little words these guys. nonverbal and receptive skills are so much stonger

Apert syndrome

spontaneous autosomal dominant mutations (cause)

syndactyly (fused digits), craniosynostosis (bones in brain fuse too early),

hyponasality and articulation disorders involving mostly alveolars and labiodentals

some normal intelligent, some mild to mod ID

cri du chat syndrome

absence of short arm of 5th chromosome

low set ears, narrow oral cavity, laryngeal hypoplasia, microcephaly, and oral clefts

comm problems include artic and language problems that come with ID

Crouzon syndrome

craniosynostosis, hypoplasia of midface/maxillar/both

some with conductive hearing loss, artic disorders assocaited with HL and CLFTP, hyponasality, and language disorders

Down syndrome

extra chromosome 21

can have HL, may be lang delays/disorders (esp. morphological and syntactic but with p good vocab skills), hypernasality, and artic can be there

Fragile X

caused by expansion of nucleic acid CCG

large/long/poorly framed pinna, big jaw and high forehead

can have mood instability, anxiety, seizures, aggression, ID

uses a lot of jargon, echolalia, lack of nonverbal means of comm, voice issues, and artic disorders, speech intelligibility can be an issue (read: cluttering)

Hurler’s Syndrome

rare congenital metabolic disease. most die early

dwarfism, hunched back, ID, short thick bones, deafness, hoarseness bc of metabolites in larynx

Landau-Kleffner syndrome

unknown cause and rare

healthy kids around 3 - 7 lose ability to comprehend and speak language (gradual or sudden aphasia)

treatment usually involved meds and speech therapy

Marfan syndrome

inherited disorder

can affect body’s connective tissue and may include bone overgrowth and loose joints

lung disease is common

austin carlile

Pierre-Robin syndrome

autosomal recessive inheritance

mandibular hypoplasia, cleft in soft palate, velopharyngeal incompetence, deformed pinna, low set ears,

glossoptosis: tongue is positioned posteriorly, causing blockage in airway and pharynx that impacts eating and breathing

can have feeding tube, hearing loss, hypernasality, artic disorders and lang delays

Prader Willi Syndrome

sus caused by autosomal dominant inheritance

low muscle tone and feeding issues (not enough and then waaay too much)

artic and oral motor issues and hypernasality, prosody can also be impacted

hypotonia: slow movement of articulators with slow rate of speech and imprecise artic

altered growth of larynx which leads to pitch variations

cognitive sequencing problems and ID

behavior issues

Treacher Collins Syndrome

caused by autosomal dominant inheritance and some spont mutation

coloboma, underdeveloped facial bones, small chin and cheek,

can have HL, and lang disorders associated with HL, can have hypernasality and artic issues

Turner Syndrome

in girls caused by missing or deformed X chromosome (in both genders in Noonan syndrome)

infertility (LUCKY 👿 ), swelling of feet/neck/hands, narrow maxilla

HL and OM common, lang and artic issues associated with HL/visualspatial/attention problems

Usher syndrome

caused by autosomal recessive inheritance in most cases but can be X linked in rare ones

blind and deaf

SNHL, lang and artic issues that come with HL

Velocardiofacial syndrome

commonly associated with cleft palate

cause not known

often middle ear infections, learning problems, speech/feeding issues

lang/artic/ID issues

feeding issues when baby