An Advanced Review of SLP: Cleft Palate, Craniofacial Anomalies, and Genetic Syndromes

You have been asked to give an in-service to a group of students who wish to eventually specialize in service delivery to children with cleft palates and their families. The students want to know detailed information about in utero development of the hard and soft palate (among other things). You can accurately tell them that in utero, the hard palate fuses between the developmental ages of

A. 1 and 2 weeks.
B. 5 and 6 weeks.
C. 8 and 9 weeks.
D. 10 and 12 weeks

C. 8 and 9 weeks.

* Questions refer to this scenario:

A clinician in a private practice is approached by the parents of Tommy D., a 5-year-old boy. The parents want to place Tommy in kindergarten in the fall but say, "We know there's something wrong with him were just not sure what." According to Tommy's parents, he is a "sweet, lovable boy who will go to anybody. He likes to sing a lot, too." Because the parents live in a rural area, health care access has been limited. After seeing Tommy for the first time, the clinician refers his parents to a neurologist because she suspects that Tommy has a syndrome. He is small for his age and has an elfin-like appearance characterized by a small chin, turned-up nose, puffiness around the eyes, a long upper lip, and a wide mouth. His teeth are small and widely spaced.

The clinician suspects that Tommy has

A. Williams syndrome.
B. Apert syndrome.
C. Moebius syndrome.
D. Turner syndrome.

A. Williams syndrome.

*This syndrome is caused by a rare genetic disorder that affects an estimated 1 out of every 20,000 babies. It is caused by

A. a missing part of chromosome 22, known as 22q11.
B. an expanded number of cytosine-guanine-guanine (CGG) nucleic acid repeats on a specific gene on one of the distal ends of the X chromosome.
C. a spontaneous autosomal dominant mutation, whose gene and locus is FGR2 at 10q25-26.
D. the deletion of approximately 25 genes on one copy of chromosome 7q11.23.

D. the deletion of approximately 25 genes on one copy of chromosome 7q11.23.

*The clinician knows that she will probably end up seeing Tommy for intervention if his parents are able to bring him on a weekly basis. She will probably be working on which of the following goals?

A. Pragmatics, to increase Tommy's ability to interact with others
B. Oral-motor coordination, because children with this syndrome usually have oral-motor coordination problems, which contribute to decreased intelligibility
C. Overall expressive and receptive language, because children with this syndrome generally have IQs of 50-70 (although some have good language skills)
D. Morphological skills, because although children with this syndrome usually have above average IQs, they frequently delete bound morphemes from the beginnings and ends of words

C. Overall expressive and receptive language, because children with this syndrome generally have IQs of 50-70 (although some have good language skills)

A condition in which the surface tissues of the soft or hard palate fuse but the underlying muscle or bone tissues do not is called

A. fusion disorder.
B. submucous or occult cleft palate.
C. class III palatal cleft.
D. submucosal cleft class IV.

B. submucous or occult cleft palate.

Though cleft palate is often caused by genetic factors, it can also be related to mechanical factors. Which one of these is NOT a mechanical factor related to cleft palate?

A. Intrauterine crowding
B. Twinning
C. Uterine tumor
D. Illegal drug use by the birth mother

D. Illegal drug use by the birth mother

Children with bilateral cleft lip or palate may have problems with their teeth. A common problem for these children is

A. supernumerary teeth.
B. teeth erupting out of the hard palate.
C. hypodontia or missing teeth.
D. teeth that are too small.

C. hypodontia or missing teeth.

The surgical method of cleft palate repair that involves raising two bipedicled flaps of mucoperiosteum, bringing them together, and attaching them to close the cleft is called the

A. von Langenbeck surgical method.
B. Veau-Wardill-Kilner method.
C. VY retroposition.
D. pharyngeal flap procedure

A. von Langenbeck surgical method.

A child comes to a clinic with her mother for articulation therapy. The mother tells the clinician that her daughter has Hurler's syndrome. Hurler's syndrome is caused by

A. autosomal recessive deficiency of X-L iduronidase.
B. a spontaneous autosomal dominant mutation of FGR 2 at 10q25-26.
C. autosomal dominant inheritance and deletion in the region of the long arm of chromosome 15 (15q11-15q13).
D. an expanded number of cytosine-guanine-guanine (CGG) nucleic acid repeats on a specific gene on one of the distal ends of the Y chromosome.

A. autosomal recessive deficiency of X-L iduronidase.

A school-based clinician is assessing the velopharyngeal adequacy of Janie K., a 17-year-old immigrant high school student from the Philippines. Janie was born with a cleft of the palate and lip; there was no repair until her family came to the US when Janie was 16 years old. Though the repair surgery was successful and Janie now has a more aesthetically pleasing appearance and better speech, there is still audible nasal emission and hypernasality when she speaks. He has access to an oral manometer and uses this to refer Janie to the craniofacial team. After obtaining a ratio by comparing pressures achieved in the nostrils-occluded and the nostrils-open conditions, the clinician concludes that Janie needs to be referred for possible surgery or a pharyngeal flap. When he used oral manometry, he probably found that Janie

A. had a ratio of 1.0.
B. had a ratio of 1.2.
C. had a ratio of .96.
D. had a ratio of .87.

D. had a ratio of .87.

In infants and children with cleft palates, Eustachian tube dysfunction is probably mostly related to the lack of contraction of the

A. levator veli palatini muscle.
B. veli palatini muscle.
C. tensor veli palatini muscle.
D. palatopharyngeus muscle.

C. tensor veli palatini muscle.

You are serving a child with a repaired cleft palate. Marisa is 11 and still somewhat unintelligible, manifesting difficulty with some speech sounds. To help her, you employ a specialized procedure. In this procedure, an orthodontist will design an artificial palate containing 62 embedded electrodes connected to a computer. This will be fitted into Marisas mouth, and when her tongue contacts the electrodes during speech production, articulatory patterns can be seen on the computer screen. This procedure is called

A. Electropalatography
B. Electroglottography
C. Palatomyography
D. Myomanometry

A. Electropalatography

A child from the city transfers and his file shows that he has been receiving speech-language services. On the first page, it is indicated that this child has Moebius syndrome and a history of frequent hospitalizations. You can expect to find this child

A. has low muscle tone, obesity after the first year, and underdeveloped genitals.
B. has underdeveloped facial bones, including mandibular hypoplasia, malar hypoplasia, and downwardly slanted palpebral fissures.
C. has a small maxillary structure, sphenoethmoidal synchondroses, ocular hypertelorism, facial asymmetry including a tall forehead, and brachycephaly.
D. may have delayed language and an articulation disorder, as well as bilabial paresis and weak tongue control for lateralization, elevation, depression, and protrusion; a masklike face; a history of feeding problems in infancy; and unilateral or bilateral paralysis of the abductors of the eye.

D. may have delayed language and an articulation disorder, as well as bilabial paresis and weak tongue control for lateralization, elevation, depression, and protrusion; a masklike face; a history of feeding problems in infancy; and unilateral or bilateral paralysis of the abductors of the eye.

A clinician is a member of a cleft palate team that asks her to conduct an objective assessment of an 8-year-old child's velopharyngeal mechanism. The clinician decides to do nasopharyngoscopy, in which a nasopharyngo-scope is passed through the middle meatus and back to the area of velopharyngeal closure. This will enable the clinician to observe the child's

A. adenoid pads and anterior pharyngeal walls as the child prolongs /s/.
B. posterior and lateral pharyngeal walls, as well as the adenoid pad, as the child sustains /a/.
C. nasal aspect of the velum and the adenoid pad as the child produces CVC words.
D. posterior and lateral pharyngeal walls, as well as the nasal aspect of the velum and the adenoid pad, as the child produces sentences.

D. posterior and lateral pharyngeal walls, as well as the nasal aspect of the velum and the adenoid pad, as the child produces sentences.

You have received a referral of Akhtar, a 4-year-old refugee child from a Dari-speaking family from Afghani-stan. Akhtar has never been evaluated or received speech-language services. Before you meet Akhtar, you speak with the doctor, who explains that Akhtar has midface dysplasia, a high and narrow arched palate, a relatively large and fissured tongue that protrudes, hearing loss, and speech sound disorder. Akhtar also has generalized hypotonia and brachycephaly (small head). You can confidently conclude that Akhtar has

A. Crouzon syndrome.
B. Cri du chat syndrome.
C. Down syndrome.
D. Hurler syndrome.

C. Down syndrome.

You are on a cleft palate and craniofacial anomalies team. When a child has a resonance problem, the team decides whether the child will benefit from speech therapy alone or more intensive medical intervention is needed. As part of the assessment, cephalometric analysis is used. In cephalometric analysis, the Cephalometric Assessment of Velopharyngeal Structures computer program analyzes the ratio of the length of the soft palate and the depth of the nasopharynx. A key principle that guides treatment decisions is

A. A ratio of less than 60 is found when the soft palate is too short and the nasopharynx is too shallow.
B. A ratio of less than 60 is found when the nasopharynx is too deep or the soft palate is too long.
C. A ratio of 60-80 generally indicates adequate tissue for velopharyngeal closure for speech.
D. If a ratio is higher than 80, this means the nasopharynx is too shallow or the velum is too long.

C. A ratio of 60-80 generally indicates adequate tissue for velopharyngeal closure for speech.

You are providing support for a man with Marfan syndrome; he has difficulties with respiration, and you are working on breathing techniques. He shares with you that he and his wife want to have a child, and they are concerned about their child possibly having Marfan syndrome. You refer him to a genetic counselor, who will share with him that Marfan syndrome is

A. an autosomal, dominant inherited disorder caused by mutations in the FBN1 gene.
B. an autosomal recessive disorder caused by mutations in the FBN1 gene.
C. a partial deletion syndrome caused by mutations in the FBN2 gene.
D. not genetically transferred to offspring, so the parents do not need to be concerned.

A. an autosomal, dominant inherited disorder caused by mutations in the FBN1 gene.

As part of your job in a public-school district, you serve several preschools. You get an urgent call from a parent at one of the schools. She states that her daughter Michelle (age 4), who previously had typical language skills, has suddenly "lost her words," and is having seizures. She shares that Michelle "is so much more hyper now, and we don't know what's wrong." The mom shares that they have an appointment with Michelle's pediatrician to find out more about what is happening. You support this decision, especially because you suspect that Michelle has

A. Williams syndrome.
B. Landau-Kleffner syndrome.
C. Treacher Collins syndrome.
D. Pierre-Robin syndrome.

B. Landau-Kleffner syndrome.

In your private practice, a father brings his 5-year-old son, Jordan, to see you. The kindergarten teacher has noticed that Jordan "talks kind of funny," and sometimes other children make fun of him. Justin was born with a cleft palate and has had repair surgery, and he has a history of conductive hearing loss secondary to otitis media with effusion. During your evaluation of Jordan's speech, you note that he is especially having difficulty producing africates, fricatives, and plosives. This is probably because he is having continued difficulty with

A. vocal nodules.
B. hypertrophied adenoids.
C. velopharyngeal closure.
D. maxillary deficiency.

C. velopharyngeal closure.

You are serving in a juvenile detention facility and receive a referral of Max, a 16-year-old with documented Fragile X syndrome. Which of the following will you expect to find when you evaluate Max?

A. Attention deficits, a large tongue, sleep disturbances, and a high, protruding forehead
B. Speech sound disorders, normal intelligence, expressive language delays, and micrognathia
C. Gargoylism, tracheal stenosis, brachycephaly, and hypertonia
D. Intellectual disability and delays in pragmatic, semantic, phonologic, and syntactic aspects of language, with syntax being especially affected

D. Intellectual disability and delays in pragmatic, semantic, phonologic, and syntactic aspects of language, with syntax being especially affected