cleft palate and genetic syndromes Flashcards
what is a common side for unilateral cleft lip
left
what is the crucial period for genetic malformation in the embryonic period
first 7-10 weeks
when do most new organs emerge in the embryonic period
4th-6th week
when s the upper lip and primary palate formed
by end of 7th week
how is velopharyngeal closure measured objectively
- with a manometer
- patient sucks or bows into a mouthpiece
- inhalation gives a negative reading, exhalation gives a positive
- a ratio is formed to compare pressures
- ratio of 1.0 suggest adequate closure
- ratios less than 1.0 suggest velopharyngeal incompetence
what is nasalance
ratio formed between oraland nasal sound pressures using a nasometer
what is the traditional rule for the timing of cleft palate surgery
rule of 10s 10 lbs 10 weeks hemoglobin of 10 these minimize the risk of general anesthesia and maximize healing capacity
what is the Veau-Wardill-Kilner method of cleft repair
- 2 flaps are made on either side of the cleft
- margins of the cleft are pared
- flaps brought together and sutured
what is pharyngoplasty
Teflon, silicone, or cartilage injected into posterior pharyngeal wall to make it bulge to help close the velopharyngeal port
what treatment procedures are recommended for speech sound disorders in cleft palate
- teach more visible sounds first except linguadentals
- stops and fricative taught before other classes
- /k/ and /g/ may be inappropriate if velopharyngeal function is inadequate
- fricatives and affricates after stops
- use auditory and visual cues and modeling
- tactile cues and instruction can improve tongue positioning
- some benefir from a minimal pairs approach, especially if they delete final consonants
what is electropalatography or EPG
orthodontist designs an artificial palate that has 62 electrodes connected to a computer
when the tongue contacts the electrodes, articulatory patterns can be seen on computer screen
how is resonance treated in children with cleft palate
done after surgery
voice therapy techniques include increased vocal loudness, discrimination training, lowered pitch, and increased oral opening
what is Angelman Syndrome
- occurs when chromosome 15 is duplicated from the father or deleted from the mother
- does not show p at birth, usually diagnosed between 3-7 years
- symptoms include seizures, stiff and jerky gait, happy demeanor, easily excitable, hypermotoric, hand-flapping movement, and short attention span
- most are nonverbal
what is Apert syndrome
- FGR2 at 10q25-26
- physical characteristics include webbed fingers, craniosynostosis, flat frontal and occipital bones, high forehead, increased intracranial pressure, midface hypoplasia, class III malocclusion, cleft palate
what communication problems are associated with Apert syndrome
- hyponasality
- forward carriage of tongue
- artic disorders include /s/ and /z/, f and v
what is cri du chat syndrome
- absence of short arm of 5 or 5p
- high pitched cry of long duration that resembles a cat
- low set ears, narrow oral cavity, laryngeal hypoplasia, microcephaly, hypertelorism, micrognathia, and oral clefts
- communication problems include artic and language associated with ID
what is Crouzon Syndrome
- from autosomal domnant inheritance
- physial characteristic includes craniosynostosis or fusing of cranial suture, hypoplasia of midface, small maxillary structure, hypertelorism (eyes wide), protrusion of eyeballs, parrotlike nose, facial asymmetry, class III malocclusion, highly arched palate, brachycephaly (short head)
what communication problems are associated with crouzon syndrome
conductive hearing loss, artic disorders, hyponasality and language disorders
what is Down Syndrome
- extra chromosome 21
- physical characteristics: hypotonia, flat face, small ears, nose, and chin, and brachycephaly, large and fissured tone that tends to protrude, short neck, cardiac malformations
what communication problems are associated with Down syndrome
conductive loss, language delays, especially syntax and morphology, hypernasality, breathy voice
when does the hard palate fuse
between 8-9 weeks
what is Fragile X syndrome
- leading cause of ID in males
- occurs on X chromosme
- physical characteristics include a large, long, pinna; big jaw; enlarged tested; high forehead
- may exhibit mood instability, anxiety, seizures, aggression, sleep disturbance, and attention deficits
- communication problems include jargon, perseveraton, echoalia, inappropriate language, lack of gestures, voice and artic problems
- may avoid eye contact, withdraw, and have autistic like social deficiencies
- early intervention is crucial
what is hurlers syndrome
- syndrome characterized by dwarfism, hunchback, ID, short thick bones, coarse facial features with low nasal bridge, sensoineural deafness, and noisy respiratin
- may have protruding abdomen, angina, decreased joint mobility, thick coronary arteries
- hands may be short, wide and thick
- thick lips and large tongue with small, maformed teeth
what is landau-kleffner syndrome
rare neuroogical disorder where formerly healthy kids 3-7 lose their ability to coprehend language and speak
- some left with permanent language disorder, others regain ability over months or years
- abnormal brain wave patterns and 80% develop epilepsy
- some have behavior disorders
- treatment involves medications and speech lanuage therapy
what is marfan syndrome
autosomal inherited
- affects connective tissue and may include bone overgrowth and loose joints
- overgrown ribs can cause sternum to bend inward or push out
- intelligence not affected
- 70% have restrictive lung disease which can lead to shortness of breath during speech
what is moebius syndrom
- physical characteristics involve facial, hypoglossal and trigeminal nerve
- bilabial paresis, weak tongue ontrol, limited strength, range, and speed of movement of articulators, masklike face
- communication problems include delayed language , articulation disorders with bilabial, linguadental, and lingua alveolar sounds affected more
what is pierre robin syndrome
- physical characteristics include mandibular hypoplasia, cleft of soft palate, velopharyngeal incompetece, low set ears and middle ear deformities
- born with glossoptosis where tonge is positioned posteriorly causing a blockage of he airway
- feeding problems due to difficulty coordinating breathing, sucking, and swallowing
what is prader-willi syndrome
- physical characteristics include low muscle tone, early feeding difficulty, failure to thrive followed by obesity after the first year, excessive eating and underdeveloped genitals
- imprecise artic, oral motor difficulties, flat intonation, slow speaking rate
- developmental delays and ID
what are the clinical characteristics of prader-willi syndrome
- hypotonia which contributes to slow rate of speech, imprecise artic, hyper or hyponasalty, and variation in pitch
- altered growth of the larynx which leads to pitch variatins
- overjet, micrognatiia, and narrow palatal arch
- tooth decay due to reduced saliva
- cognitive sequencing problems and ID
- behavioral disturbances: stubbornness, temper tantrums, etc
what is Russell-Silve sydroe
- dwarfism, low birthweight due to genetic factors
- assymmetry of arms or legs, large head, mandibular hypoplasia,
- hypernasality, artic disorders, expressive and receptive language disorders, abnormally high pitched voice
what is tourette syndrome
characterized by uncontrolable vocal sounds or tics
- affects males more than females
- may be due to brains metabolism of serotonin, norepinephrine, and dopamine
- first symptoms are facial tics such as eye blinking but expand to nek stretching, head erking, body wisting, floor stamping
what is treacher collilns syndrome
- physical characteristics include underdeveloped facial bones, dental malocclusio, hypoplasia and downward slanted palpebral fissures
- coloboma: cleft of lower eyelid
- atresia of eternal auditory canal, malformed pinna
- high hard palate some with a cleft
- hearing loss and language disorders
what is holoprosencephaly
failure of the brain to divide into two hemispheres
what is turner syndrome
- occurs only in females
- caused by missing X chromosome
- ovarian abnormality, congenital swelling of feet, neck and hands; cardiac defects; webbing of neck, low posterior hairline
- sensorineural hearing loss after 10th year
what is usher syndrome
autosomal recessive and X linked
may affect 50% of people who are blind
night blindness in early childhood, liited peripheral vision to eventual blindness and cochlear abormalities
what is velocardiofacial syndrome
- most commonly associated with a cleft palate
genetic disorder on chromosome 22 - major anomalies include middle ear infection, learning problems, speech and feeding problems and unique facial characteristics
- craniofacial characteristics include wide nose, small ears, almond shaped eyes, micrognathia, microcephaly and elongated face
what is williams syndrome
resemble elves
small boned and short with long upper lip wide mouth, full lips, small chin, upturned nose puffiness around the eyes
IQ between 50-70
often charming personality
narrowed pulmonary arteries and narrowed aorta
dental anomalies
