PRAXIS - Cleft Palate and Genetic Syndrome

By the end of the 3rd week, the human embryo develops:
a) The tongue
b) The two mandibular processes
c) The upper lip and primary palate
d) The primitive forebrain

D, The primitive forebrain is developed by week three

By what time do the 2 mandibular processes form and fuse?
a) End of 3rd week
b) End of 4th or 5th week
c) End of 8th or 9th week
d) End of 12th week

B, The two mandibular processes form and fuse by the end of the 4th or 5th week

The growth of the hard and soft palates are identifiable at the ___ week mark:
a) End of 3rd week
b) End of 5th week
c) End of 7th week
d) End of 10th week

B, The growth of the hard and soft palates are identifiable at the end of the fifth week.

At the end of the 12th week, what generally happens with regards to palate development?
a) Development of the upper lip and primary palate
b) The tongue drops, and the jaw develops
c) Muscle mass from the two sides fuses to form the soft palate
d) Fusion of the two shelved of the hard palate at the midline

C, By the 12th week, the muscle mass from the two sides of the palate fuses to form the soft palate

Which of the following is considered a mechanical factor that may lead to cleft palate?
a) Autosomal dominance
b) Fetal alcohol syndrome
c) Intrauterine crowding
d) X-linked inheritance

C, A mechanical factor refers to physical issues in the womb, such as intrauterine crowding, twinning, uterine tumor, or amniotic rupture.

Which kind of cleft is characterized by a bony defect in the midline of the bony palate?
a) Submucous cleft of the hard palate
b) Cleft of lip and palate
c) Unilateral cleft of alveolar palate
d) Bilateral cleft of prepalate and palate

A, a submucous cleft of the hard palate is one in which the soft tissues of the mouth connect but the hard structures do not, and there is a bony defect in the midline of the bony palate which can be felt as a depression or notch.

What is congenital palatopharyngeal incompetence?
a) A related disorder to cleft palate, but refers to impaired velopharyngeal closing valve functioning
b) Minimal expressions of clefts, including a hairline indentation of the lip or notch on the lip
c) A craniofacial abnormality of the head and face
d) Dysfunction of the middle ear and Eustachian tube as a result of a cleft palate having inappropriate structure of the nasopharynx

A, CPI refers to the impairment in the velopharyngeal closing valve functioning, but laryngeal structures appear normal and palatopharyngeal incompetence can only be detected by videofluoroscopy or endoscopy.

What is not a laryngeal or phonatory disorder that would be found in children with clefts?
a) Vocal nodules, hypertrophy and edema of vocal folds
b) Reduced vocal intensity and pitch variations
c) Hypo- or hyper- nasality
d) Hyperkeratosis of the vocal folds

D, Hyperkeratosis is a rough, pinkish lesion that can appear in the oral cavity, larynx and pharynx and it is caused by irritation of the tissues (GERD, smoking, etc.)

If a child has a score of 43 on a cephalometric analysis, the SLP can determine:
a) The child has a shallow nasopharynx or the soft palate is too long, leading to inappropriate closure or narrowing resulting in hyponasality, cul-de-sac resonance, or mixed nasality
b) The child has adequate nasopharyngeal + soft palate/velum tissue closure and is within normal limits
c) The child's nasopharynx is too deep or the velum is either too short, leading to hyponasality
d) The child has a submucosal cleft palate that could not be detected without the cephalometric analysis

A, A cephalometric score of 60-80 indicates adequate tissue for closure, <60 indicates nasopharynx is too short or soft palate is too long, causing hyponasality, and score >80 indicates either nasopharynx is too long or the velum is too short, causing hypernasality.

The type of cleft palate surgery in which single-based flaps of the palatal mucoperiostum are raised on either side of the cleft, and brough back together, then pushed back to close the cleft, lengthening the palate is called:
a) The secondary cleft palate surgery
b) Pharyngeal flap surgery
c) The Von Langenbeck surgical method
d) The V-Y retroposition or Veau-Wardill-Kilner surgical method

D, The V-Y retroposition or Veau-Wardill-Kilner surgical method is a type of cleft palate surgery in which singlebased flaps of the palatal mucoperiostum are braised on either side of the cleft, and brough back together, then pushed back to close the cleft, lengthening the palate is called

The Von Langenbeck surgical method:
a) A secondary palatal surgery procedure in which a muscular flap is cut from the posterior pharyngeal wall, raised, and is attached to the velum. Air can pass through the sides for nasal breathing and drainage and reduce hypernasality.
b) Raises 2 bipedicled flaps of mucoperiosteum, bringing them together and attaching them to close the cleft, leaving denuded bone on either side, and does not lengthen the palate.
c) Takes single-based flaps of the palatal mucoperiostum are braised on either side of the cleft, and brough back together, then pushed back to close the cleft, lengthening the palate
d) Teflon, silicon, dacron wool or cartilage is implanted/injected into the posterior pharyngeal wall to make it bulge and close the velopharyngeal port.

B, The Von Langenbeck surgical method raises 2 bipedicled flaps of mucoperiosteum, bringing them together and attaching them to close the cleft, leaving denuded bone on either side, and does not lengthen the palate. (A) is pharyngeal flap surgery, (C) is V-Y retroposition, and (D) is pharyngoplasty.

Which speech sounds are inappropriate to work on in speech therapy if there is velopharyngeal incompetence (VPI)?
a) /m/ and /n/
b) /s/ and /ʃ/
c) /k/ and /g/
d) /θ/ and /ð/

C, velar stop consonants are inappropriate to work on if there is CPI as there is no way for the child to make velar contact with the base of tongue, and so there would be no success.

How many electrodes are used for electropalatography for visual feedback of articulatory patterns?
a) 62
b) 72
c) 84
d) 102

A, there are 62 electrodes on the artificial palate for electropalatography to find articulation patterns and provide visual feedback.

Kaya is a 10-year-old who you are seeing at your school. She has sensorineural hearing loss with recurring otitis media, conductive hearing loss in her left ear and language problems that follow similar patterns that you would expect to see from hearing loss. She also has some characteristics such as swollen feet, wide, neck and hands, and a narrow maxilla, palate, and micrognathia. You confer with previous medical reports that Kaya has:
a) Moebius syndrome
b) Russell-Silver syndrome
c) Turner syndrome
d) Usher syndrome

C, Kaya's physical and communication characteristics are consistent with Turner Syndrome.

Which congenital metabolic disease is caused by an autosomal recessive deficiency of X-L iduronidase with most dying in their early teens, and is characterizes by dwarfism, hunchback, intellectual disability, coarse facial features, sensorineural deafness, hoarseness, vocal fatigue, and malformed teeth with compromised intelligibility?
a) Fragile X syndrome
b) Apert Syndrome
c) Landau-Kleffner Syndrome
d) Hurler's Syndrome

D, Hurler's syndrome is a congenital metabolic disease is caused by an autosomal recessive deficiency of X-L iduronidase with most dying in their early teens, and is characterizes by dwarfism, hunchback, intellectual disability, coarse facial features, sensorineural deafness, hoarseness, vocal fatigue, and malformed teeth with compromised intelligibility.

The genetic disorder caused by deletion of 25 genes on 1 copy of 7q11.23 on chromosome 7:
a) Is known as Williams syndrome, and people who have this genetic disorder usually have elfin-like faces, IQs between 50-70 and may have intelligence in other areas such as music or language and interpersonal skills, hypercalcemia causing extreme irritability, and are charming and unafraid of strangers.
b) Is known as Pierre-Robin syndrome and involves mandibular hypoplasia, cleft of soft palate and VPI, deformed, low-set pinna and ossicular chain deformities causing conductive hearing loss, otitis media, delayed articulation and language, and hypernasality.
c) Is known as Russell-Silver syndrome, which is characterized by low birthweight, children being small for their age, asymmetry of limbs, mandibular hypoplasia, hypernasality, feeding problems, abnormally high-pitched voice, microdontia, and receptive and expressive language deficits.
d) Is known as Cri du Chat syndrome, which is characterized by a high-pitched cry, low set ears, narrow oral cavity, laryngeal hypoplasia, microencephaly, hypotelorism, micrognathia, oral clefts, and communication deficits secondary to intellectual disability.

A, Williams syndrome is caused by deletion of 25 genes on 1 copy of 7q11.23 on chromosome 7, and people who have this genetic disorder usually have elfin-like faces, IQs between 50-70 and may have intelligence in other areas such as music or language and interpersonal skills, hypercalcemia causing extreme irritability, and are charming and unafraid of strangers.

Which genetic disorder is caused by chromosome 15 being duplicated from father or mother and is characterized by developmental delay, seizures, stiff, jerky gait, laughter and happy demeanor, easily excitable, non-verbal with better reception than expression?
a) Landau Kleffner syndrome
b) Angelman syndrome
c) Velocardiofacial syndrome
d) Crouzon syndrome

B, Angelman syndrome is caused by chromosome 15 being duplicated from father or mother and is characterized by developmental delay, seizures, stiff, jerky gait, laughter and happy demeanor, easily excitable, non-verbal with better reception than expression

Apert syndrome is caused by spontaneous autosomal dominant mutations in GGR2 at 10q25-26. What are the characteristics of Apert syndrome?
a) Large, long, poorly formed pinna, big jaw, enlarged testes, high forehead, mood instability, intellectual disability, aggression, limited attention spans, may withdraw socially, have inappropriate language, and delay in all linguistic areas, especially syntax.
b) Formerly healthy children age 3-7 lose language with variable severity, recover, and onset. May improve, remit/relapse, or be permanent. These children often have abnormal brain wave patterns in EEG. 80% develop epilepsy, and some develop mood disorders.
c) Syndactyly (digital fusion) of 2nd-3rd-4th digits, craniosynostosis, high forehead, intracranial pressure, compensatory growth in cranial structures, midfacial hypoplasia, arched, grooved hard palate, conductive hearing loss, class III malocclusion, forward carriage of the tongue with articulation problems of alveolar and labiodental sounds. May range from normal intelligence to having intellectual disability.
d) Uncontrollable vocal sounds/words/phrases, and repeated movements.

C, Apert syndrome is characterized by syndactyly (digital fusion) of 2nd-3rd-4th digits, craniosynostosis, high forehead, intracranial pressure, compensatory growth in cranial structures, midfacial hypoplasia, arched, grooved hard palate, conductive hearing loss, class III malocclusion, forward carriage of the tongue with articulation problems of alveolar and labiodental sounds. May range from normal intelligence to having intellectual disability. (A) describes Fragile X syndrome, (B) describe Landau-Kleffner syndrome, and (D) describes Tourette's syndrome

Which of the following are not caused by autosomal dominant inheritance/mutations?
a) Apert syndrome (FGR2 at 10q25-26) & Crouzon syndrome
b) Marfan syndrome (FBN1) & Moebius syndrome (agenesis/aplasia of motor nuclei)
c) Prader-Willi syndrome (15q-11 015q-13) & Treacher Collins syndrome
d) Pierre-Robin syndrome & Usher syndrome

D, Pierre-Robin syndrome and Usher syndrome are caused by autosomal recessive inheritance/mutations

Which genetic disorder is characterized by craniosynostosis, hypoplasia of the midface and/or maxilla, small maxillary structure, spenoethmoidal synchondroses (fuse), hypertelorism, protrusion of the eyeballs, conductive hearing loss, articulation disorder secondary to hearing loss, and abnormalities of the palate and oral cavity?
a) Crouzon syndrome
b) Down syndrome
c) Moebius syndrome
d) Russell-Silver syndrome

A, Crouzon syndrome is an autosomal dominant inheritance disorder characterized by craniosynostosis, hypoplasia of the midface and/or maxilla, small maxillary structure, spenoethmoidal synchondroses (fuse), hypertelorism, protrusion of the eyeballs, conductive hearing loss, articulation disorder secondary to hearing loss, and abnormalities of the palate and oral cavity?

Which syndrome is an autosomal dominant inheritance syndrome of FBN1 that is characterized by long limbs and a restricted chest cavity causing shortness of breath?
a) Treacher Collins syndrome
b) Turner syndrome
c) Prader-Willi syndrome
d) Marfan syndrome

D, Marfan syndrome is an autosomal dominant inheritance syndrome of FBN1 that is characterized by long limbs and a restricted chest cavity causing shortness of breath.

Which of the following describes Moebius syndrome?
a) Caused by an extra copy of trisomy 13, many children with this disorder die by age one, and there is profound intellectual disability, congenital heart defects, severe brain anomalies, spina bifida, polydactyly, cleft lip/palate, midline facial deformities, and midline cleft lip.
b) Caused by agenesis/aplasia of the motor nuclei, it is an autosomal dominant inheritance disorder that has involvement of the facial and hypoglossal nerves, bilabial paresis and weak tongue control, unilateral/bilateral paralysis of the abductors for the eyes, feeding problems in infancy, mask-like face, and articulation problems with bilabial, linguadental, and lingua-alveolar sounds most affected.
c) Caused by autosomal recessive inheritance in most cases and is characterized by night blindness, limited peripheral vision, cochlear abnormalities resulting in sensorineural hearing loss, language disorders consistent with hearing loss, and hypernasality.
d) Non-verbal communication with petter receptive than expressive language, seizure, stiff, jerky gait and happy demeanor

B, Moebius syndrome is caused by agenesis/aplasia of the motor nuclei, it is an autosomal dominant inheritance disorder that has involvement of the facial and hypoglossal nerves, bilabial paresis and weak tongue control, unilateral/bilateral paralysis of the abductors for the eyes, feeding problems in infancy, mask-like face, and articulation problems with bilabial, linguadental, and lingua-alveolar sounds most affected.

Which genetic syndrome is caused by a deletion of chromosome 22q11.2 and is characterized by otitis media, learning problems, speech and feeding problems, unique facial characteristics, velopharyngeal incompetence, intellectual disability, significant language disorders, failure to thrive in neonatal period, wide nose, small ears, almond eyes, micrognathia, microcephaly, elongated face, and cleft palate?
a) Velocardiofacial syndrome
b) Fragile X syndrome
c) Russell-Silver Syndrome
d) Treacher Collins syndrome

A, Velocardiofacial syndrome is caused by a deletion of chromosome 22q11.2 and is characterized by otitis media, learning problems, speech and feeding problems, unique facial characteristics, velopharyngeal incompetence, intellectual disability, significant language disorders, failure to thrive in neonatal period, wide nose, small ears, almond eyes, micrognathia, microcephaly, elongated face, and cleft palate

Prader-Willi syndrome is caused by:
a) Mutations in FBN1
b) Deletion of 22q11.2
c) Deletion in 15q-11 - 15q-13
d) Deletion of short arm of 5th chromosome (5p)

C, Prader-Willi syndrome is caused by deletion of chromosomes 15q-11 - 15q-13. (A) causes Marfan syndrome, (B) causes Velocardiofacial syndrome, and (D) causes Cri du Chat syndrome

Which genetic syndrome is caused by autosomal recessive inheritance in most cases and is characterized by night blindness, limited peripheral vision, cochlear abnormalities resulting in sensorineural hearing loss, language disorders consistent with hearing loss, and hypernasality?
a) Landau Kleffner syndrome
b) Down syndrome
c) Usher syndrome
d) Pierre-Robin syndrome

C, Usher syndrome is caused by autosomal recessive inheritance in most cases and is characterized by night blindness, limited peripheral vision, cochlear abnormalities resulting in sensorineural hearing loss, language disorders consistent with hearing loss, and hypernasality.

Which genetic syndrome is characterized by low birthweight, children being small for their age, asymmetry of limbs, mandibular hypoplasia, hypernasality, feeding problems, abnormally high-pitched voice, microdontia, and receptive and expressive language deficits?
a) Apert syndrome
b) Russell-Silver syndrome
c) Crouzon syndrome
d) Pierre-Robin syndrome

B, Russell-Silver syndrome is characterized by low birthweight, children being small for their age, asymmetry of limbs, mandibular hypoplasia, hypernasality, feeding problems, abnormally high-pitched voice, microdontia, and receptive and expressive language deficits.

Which of the following is caused by a deformed X chromosome that affects females (with a Noonan variant that affects both males and females)?
a) Apert syndrome
b) Crouzon syndrome
c) Hurler's syndrome
d) Turner syndrome

D, Turner syndrome is the only one listed that affects only females. It causes reproductive issues, physical abnormalities, and sensorineural and conductive hearing loss.

Which genetic syndrome is characterized by mandibular hypoplasia, cleft of soft palate and VPI, deformed, low-set pinna and ossicular chain deformities causing conductive hearing loss, otitis media, delayed articulation and language, and hypernasality?
a) Pierre-Robin syndrome
b) Crouzon syndrome
c) Velocardiofacial syndrome
d) Landau Kleffner syndrome

A, Pierre-Robin syndrome is cause by autosomal recessive inheritance (may be part of Stickler syndrome) and is characterized by mandibular hypoplasia, cleft of soft palate and VPI, deformed, low-set pinna and ossicular chain deformities causing conductive hearing loss, otitis media, delayed articulation and language, and hypernasality.

Which of the following is caused by expansion of the nucleic acid CGG, repeating too often on FMR1?
a) Fragile X syndrome, which is characterized by large, long, poorly formed pinna, big jaw, enlarged testes, high forehead, mood instability, intellectual disability, aggression, limited attention spans, may withdraw socially, have inappropriate language, and delay in all linguistic areas, especially syntax.
b) Landau Kleffner syndrome, in which formerly healthy children age 3-7 lose language with variable severity, recover, and onset. May improve, remit/relapse, or be permanent. These children often have abnormal brain wave patterns in EEG. 80% develop epilepsy, and some develop mood disorders.
c) Velocardiofacial syndrome, which is characterized by otitis media, learning problems, speech and feeding problems, unique facial characteristics, velopharyngeal incompetence, intellectual disability, significant language disorders, failure to thrive in neonatal period, wide nose, small ears, almond eyes, micrognathia, microcephaly, elongated face, and cleft palate.
d) Moebius syndrome, which is caused by agenesis/aplasia of the motor nuclei, it is an autosomal dominant inheritance disorder that has involvement of the facial and hypoglossal nerves, bilabial paresis and weak tongue control, unilateral/bilateral paralysis of the abductors for the eyes, feeding problems in infancy, mask-like face, and articulation problems with bilabial, linguadental, and lingua-alveolar sounds most affected

A, Fragile X syndrome is caused by expansion of the nucleic acid CGG, repeating too often on FMR1.

Which genetic disorder is characterized by underdeveloped facial bones, including mandibular hypoplasia, dental malocclusion and hypoplasia, coloboma, downwardly slanted palpebral fissures, high hard palate, cleft palate in 30%, stenosis or atresia of external auditory canal, malformation of pinna, middle ear, and/or inner ear, conductive hearing loss, sensorineural hearing loss, and associated language disorders, and hypernasality if clefts or VPI:
a) Usher syndrome
b) Treacher Collins syndrome
c) Williams syndrome
d) Hurler's syndrome

B, Treacher Collins syndrome is characterized by underdeveloped facial bones, including mandibular hypoplasia, dental malocclusion and hypoplasia, coloboma, downwardly slanted palpebral fissures, high hard palate, cleft palate in 30%, stenosis or atresia of external auditory canal, malformation of pinna, middle ear, and/or inner ear, conductive hearing loss, sensorineural hearing loss, and associated language disorders, and hypernasality if clefts or VPI.