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PRAXIS > Craniofacial anomalies and genetic disorders > Flashcards

Craniofacial anomalies and genetic disorders Flashcards

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1
Q

What is a craniofacial anomaly?

A

abnormalities of the head and face that are congenital and likely due to genetics

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2
Q

What is a cleft lip?

A

an opening in the lip, usually the upper lip, that is accompanied by a cleft palate. It can cause speech problems and it is congenital

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3
Q

What is a cleft palate?

A

an opening in the hard or soft palate, usually due to a disruption in the processes of embryonic growth; more common in males than females

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4
Q

What is the most crucial period for genetic malformations?

A

embryonic period, which is 3 to 8 weeks

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5
Q

What are mechanical factors related to clefting?

A

twinning; amniotic rupture; uterine tumour; intrauterine crowding

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6
Q

What communication issues might a child with a cleft experience?

A

speech sound disorders; hearing loss; language disorders; voice and resonance disorders

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7
Q

How does cleft palate cause conductive hearing loss?

A

the malformation of the cleft palate prevents the drainage of secretions and the allowance of air into the middle ear, thereby leading to a buildup of fluid which causes otitis media and conductive hearing loss

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8
Q

How does cleft palate impact the eustachian tube?

A

Since the tensor veli palatini muscle, a muscle of the velum, contracts the eustachian tube, it does not contract due to the malformation of the soft palate, thereby affecting the eustachian tube

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9
Q

What are characteristics of Fragile X syndrome?

A

echolalia, poor social communication, anxiety, limited eye contact, and hyperactivity; Physical characteristics include atypically formed pinnas, a high forehead, and a large jaw

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10
Q

What is a cleft palate?

A

opening in the hard palate, soft palate, or both

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11
Q

What are the etiologies of cleft palate?

A

genetic abnormalities, mechanical factors (e.g., twinning, amniotic ruptures, uterine tumor, intrauterine crowding), and environmental factors (e.g., illegal drug use, rubella, fetal alcohol syndrome, and side effects of prescription drugs)

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12
Q

What communication disorders are associated with clefts?

A

speech sound disorders (e.g., distortions of vowels, issues wiht sibilants, fricatives, affricates, and plosives); delayed language development; laryngeal and phonaory disorders (e.g., vocal nodules, edema, hoarseness), hearing loss

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13
Q

When assessing children with clefts, what does an SLP assess?

A

velopharyngeal port via oral mech and instrumentals (e.g., nasoendoscopy); assess speech via speech sample and the administration of the Iowa Articulation test; assess language, phonation, and resonance

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14
Q

When treating children with clefts, an SLP should do the following:

A

surgery is needed first to repair the palate; for speech sound disorders, teach the child compensatory strategies and use electropalatography (electrodes on an artificial palate), for resonance disorders use voice therapy after the child has had their velopharyngeal port repaired

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15
Q

What is a syndrome?

A

several symptoms that occur together or a condition characterized by several symptoms

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16
Q

What is Apert syndrome?

A

a genetic disorder characterized by spontaenous autosomal dominant mutations and its gene and locus is FGR2 at 10q25-26. Symptoms include midfacial hypoplasia, arched and grooved hard palate, and mild to moderate intellecutal disability

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17
Q

What is Trisomy 13?

A

a genetic disorder characterized by an extra chromosome 13 (3 instead of 2); symptoms include cleft lip or cleft palate, intellectual disability, close-set eyes, clenched hands, micrognathia; extra fingers and toes; small head; seizures

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18
Q

What is Turner Syndrome?

A

a genetic disorder that only affects females and it results from a missing X chromonsome; symptoms include micrognatha, low set of ears; broad chest with widely spaced nipples; wide or weblike neck; cardiac issues; slowed growth; swelling of hands and feet

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19
Q

What is Angelman syndrome?

A

a genetic disorder caused by a protein with a gene on chromosome 15 called ubiquitin protein ligase E3A (UBE3A) gene that results in developmental delays; intellectual disability; litle to no speech; hard to walk or balance well; smile and laugh often; happy and excitable; trouble with sucking or feeding; struggle with sleeping or falling asleep; tongue thrust; seizures; curved spine

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20
Q

What is the etiology of Cri-du chat Syndrome?

A

absence of the short arm of the fifth chromosome

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21
Q

What physical characteristics are associated with Cri-du chat syndrome?

A

oral clefts; micrognathia; low-set ears; narrow oral cavity; laryngeal hypoplasia; microencephaly; hypertelorism

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22
Q

What is the etiology of Crouzon syndrome?

A

autosomal dominant inheritance with various expression in individuals

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23
Q

What are the physical characteristics associated with Crouzon syndrome?

A

short head; eyes far apart; underbite (class 3 malocclusion); tall forehead; hypoplasia; parrot-like nose; protrusion of the eyeballs; facial asymmetry; highly arched palate

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24
Q

What communication problems are associated with Crouzon syndrome?

A

conductive hearing loss, artic disorders, language disorders, hyponasality

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25
Q

What is the etiology of Down Syndrome?

A

extra chromosome (i.e., chromosome 21), leading to 47 chromosomes

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26
Q

What physical characteristics are associated with Down syndrome?

A

general hypotonia; heart might not be formed well

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27
Q

What communication problems are associated with Down syndrome?

A

articulation disorders; breathy voice; conductive/sensorineural hearing loss; language delay; issues with morphology and syntax; hypernasality and nasal emission

28
Q

What is the etiology of Fragile X syndrome?

A

expansion of the nucleic acid CGG which repeats too often on FMR1 gene

29
Q

What physical characteristics are associated with Fragile X syndrome?

A

high forehead; enlarged testes; big jaw; large/long/poorly formed pinna

30
Q

What communication issues are associated with Fragile X Syndrome?

A

pragmatic issues; intellectual disabilities; perseverations; echolalia;

31
Q

What is the etiology of Hurler’s syndrome?

A

autosomal recessive deficiency of X-Lideronase

32
Q

What are the physical characteristics of Hurler’s syndrome?

A

you can hear them breath; dwarf; hunchback; sensorineural deafness; coarse facial features with a low nasal bridge; short and thick bones

33
Q

What communication problems are associated with Hurler’s syndrome?

A

hoarse vocal quality and compromised intelligibility

34
Q

What is the etiology of Landau-Kleffner syndrome?

A

unknown

35
Q

What are the Landau-Kleffner syndrome?

A

form of aphasia and language loss

36
Q

What is the etiology of Marfan syndrome?

A

autosomal dominant disorder caused by the FBN1 gene

37
Q

What are the physical characteristics of Marfan syndrome?

A

bone overgrowth and loose joints as a result of the body’s connective tissue being impaired

38
Q

What are the communication issues as a result of Marfan syndrome?

A

shortness of breath while speaking

39
Q

What is the etiology of Moebius syndrome?

A

aplasia (poor development) of the motor nuclei of the cranial nerves

40
Q

What physical characteristics are associated with Moebius syndrome?

A

articulators barely move; feeding problems in infancy; mask-like face; weak tongue control and bilateral paresis; unilateral/bilateral paralysis of the eyes

41
Q

What communication disorders are associated with Moebius syndrome?

A

conductive hearing loss; delayed language; articulation disorders

42
Q

What is the etiology of Pierre-Robin syndrome?

A

autosomal recessive inheritance of part of stickler syndrome

43
Q

What are the physical characteristics associated with Pierre Robin syndrome?

A

glossoptosis; feeding difficulties; deformed pinna, low set ears; deformed ossicular bones; mandibular hypoplasia; cleft of the soft palate; velopharyngeal incompetence

44
Q

What communication problems are associated with Pierre Robin syndrome?

A

articulation disorders; conductive hearing loss; velopharyngeal insufficiency; hypernasality and nasal emission; language delay or disorder

45
Q

What is the etiology of Prader-Willi syndrome?

A

autosomal dominant inheritance and deletion of arm of chromosome 15

46
Q

What are the physical characteristics associated with Prader-Willi syndrome?

A

low muscle tone; obese; feeding problems; underdeveloped genitals

47
Q

What communication problems are associated with Prader-Willi syndrome?

A

abnormal pitch; harsh/hoarse vocal quality; articulation issues; hypernasality; slow rate of speech;oral-motor difficulties flat intonation

48
Q

What is the etiology of Russell-Silver syndrome?

A

genetic factors; exact etiology is unknown

49
Q

What physical characteristics are associated with Russel-Silver syndrome?

A

microdontia (abnormally small teeth); asymmetrical arms and legs; disproportionately large head; craniofacial disproportion, mandibular hypoplasia; high/narrow palate;

50
Q

What communication problems are associated with Russell-Silver syndrome?

A

abnormally high pitched voice; expressive and receptive language problems; hypernasality; feeding problems in infancy; articulation disorders;

51
Q

What is the etiology of Tourette Syndrome?

A

inherited; no known cause

52
Q

What characteristics are associated with someone with Tourette Syndrome?

A

uncontrollable vocal sounds and uncontrollable involvuntary movements

53
Q

What is the etiology of Treacher-Collins syndrome?

A

autosomal dominant inheritance in most cases and spontaneous mutation in some

54
Q

What are the physical characteristics assocaited with Treacher-Collins syndrome?

A

short soft palate; deformed middle and inner ear and pinna; underdeveloped facial bones (i.e., mandibular and maxillary hypoplasia); dental malocclusion;

55
Q

What are the communication problems with Treacher-Collins syndrome?

A

language disorders; hypernasality; articulation disorders; bilateral conductive hearing loss and sensorineural hearing loss

56
Q

What is the etiology of Usher syndrome?

A

autosomal recessive inheritance in most cases and is X-linked in rare cases

57
Q

What are the physical characteristics of Usher syndrome?

A

night blindness in early childhood; limited peripheral vision; eventual blindness; cochlear abnormalities

58
Q

What communication problems are associated with Usher syndrome?

A

sensorineural hearing loss; language and articulation disorders; hypernasality; and nasal emission

59
Q

What is the etiology of velocardiofacial syndrome?

A

unknown; maybe autosomal/genetic

60
Q

What are the characteristics of velocardiofacial syndrome?

A

vomiting; velopharyngeal insufficiency; cleft lip/palate; middle ear infections and learning problems; speech and feeding problems; unique facial characteristics oral apraxia

61
Q

What are communication problems associated with velocardiofacial syndrome?

A

intellectual disability; artic disorders; and language disorders

62
Q

What is the etiology of Williams syndrome?

A

abnormality on chromosome 7

63
Q

What are the physical characteristics of Williams syndrome?

A

puffy nose; short; small limb; looks like an elf; wide mouth; full lips; small chin; long upper lip

64
Q

What are other features associated with Williams syndrome?

A

IQ within 50 to 70; gifted in music, language, and interpersonal skills; charming, respectful, friendly, and laughs alot

65
Q

What is the etiology of Angelmann Syndrome compared to Apert Syndrome?

A

Angelmann Syndrome is caused by duplication of chromosome 15, whereas Apert syndrome is caused by an issue with FGR12 10q25-26

66
Q

What is hemifacial microsmia?

A

A genetic deformity where the face is asymmetrical. Symptoms include ear and jaw abnormalities

PRAXIS (27 decks)

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