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NESPA Studying Guides > Genetics > Flashcards

Genetics Flashcards

includes syndrome, sequence, association, and craniofacial malformations

1
Q

normal human has __ total chromosomes

A

46

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2
Q

meiosis

A

genetic combination from female and male (each contribute 23 chromosomes)

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3
Q

female

A

XX

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4
Q

male

A

XY

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5
Q

each chromosome contains…

A

thousands of genes

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6
Q

genes

A
  • contain DNA
  • genes regulate growth and development of organisms during embryological development and after birth
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7
Q

true or false: children can be born with multiple birth anomalies

A

true

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8
Q

anomalies appear to be related and may be characterized as…

A
  • syndromes
  • sequences
  • associations
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9
Q

syndromes

A
  • multiple anomalies having a single pathological cause
  • chromosomal or genetic based
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10
Q

sequences

A

a single malformation causes a pattern or sequence of anomalies

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11
Q

associations

A
  • abnormalities that co-occur together by chance
  • more frequently than alone
  • no evidence of a casual effect
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12
Q

chromosomal syndromes

A
  • deletion of whole chromosome
  • addition of whole chromosome
  • deletion part of chromosome
  • addition part of chromosome
  • restructured chromosome/s
  • rearranged chromosome/s
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13
Q

gene disorders

A
  • autosomal dominant
  • autosomal recessive
  • x-linked dominant
  • x-linked recessive
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14
Q

autosomal dominant

A

only 1 copy of a disease allele is necessary

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15
Q

autosomal recessive

A

2 copies of disease allele required to be susceptible

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16
Q

x-linked dominant

A

only 1 copy of a disease allele on the x chromosome necessary to be susceptible

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17
Q

x-linked recessive

A

2 copies of a disease allele on the X chromosome required to be susceptible

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18
Q

syndromes that are associated with speech, language, and/or feeding difficulties

A
  • Angelman syndrome
  • Cri du Chat syndrome
  • Fragile X syndrome
  • Noonan syndrome
  • Russel-Silver syndrome
  • Treacher Collins syndrome
  • Usher syndrome
  • Apert syndrome
  • Crouzon syndrome
  • Moebius syndrome
  • Pierre-Robin syndrome
  • Stickler syndrome
  • Trisomy 13
  • Van der Woude syndrome
  • CHARGE syndrome
  • Down syndrome
  • Nager syndrome
  • Prader-Willi syndrome
  • Tourette syndrome
  • Turner syndrome
  • Velocardiofacial syndrome
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19
Q

deletion of whole chromosome

A
  • rare
  • Turner syndrome: missing sex chromosome (female has X only)
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20
Q

addition of whole chromosome

A
  • additional chromosome
  • Down syndrome: trisomy 21
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21
Q

deletion of part of chromosome

A
  • most common
  • Cri du Chat: deletion of short arm chromosome 5)
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22
Q

addition (or part of) or rearrangement of chromosomes

A

most with chromosomal anomalies have craniofacial malformations

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23
Q

sequences that are associated with speech, language, and/or feeding difficulties

A
  • Fetal Akinesia deformation
  • Pierre Robin sequence
  • Potter sequence
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24
Q

associations that are associated with speech, language, and/or feeding difficulties

A
  • Schisis association
  • VACTERL asssociation
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25
an individual can have both a sequence and a syndrome
- syndromes, sequences, and associations are lifelong conditions - no cure, but can be managed by varying degrees
26
Angelman syndrome
- UBE3A gene, chromosome 15 - developmental delay - severe learning disability - receptive language > expressive - severe speech impairment - ataxia - delayed motor development - seizures
27
Angelman syndrome: characteristics
- prominent forehead - skull deformities - large lower jaw - small flattened nose - low set ears - wide eyes - webbing of fingers and toes - dental issues
28
CHARGE syndrome
CHD7 gene C = coloboma of eye (defect in iris/retina) H = heart defect A = atresia choanal (blockage of nasal passage) R = retarded growth G = genital hypoplasia E = ear abnormalities (sensorineural hearing loss)
29
Cri-du-Chat syndrome
- short arm of chromosome 5 deletion - severe learning disability - intellectual disability - congenital heart disease
30
Cri-du-Chat syndrome: characteristics
- microcephalic (small head) - short stature - poor muscle tone - weak/high pitched cry - downward wide set eyes
31
Crouzon syndrome
- FGR2 gene - may have normal intelligence or intellectual disability - may have cleft lip and/or palate
32
Crouzon syndrome: characteristics
- premature fusion of bones of skull - small head - shallow bulging eyes - "beaked" nose - malformed teeth - increased cranial pressure
33
Down syndrome
- extra chromosome: trisomy 21 - language/articulation deficits - intellectual disability - cardiac problems - hearing loss
34
Down syndrome: characteristics
- upward slanted eyes - small head - mid face growth deficiency (flat face/small features) - short neck - hypotonia (low muscle tone)
35
Fragile X syndrome
- FMR1 gene, X chromosome - learning disability (weak/paralyzed facial muscles) - ADD/ASD - pragmatic deficits
36
Fragile X syndrome: characteristics
- dysmorphic facial features - long/thin face - large ears - prominent forehead - hyperextended fingers - fine and/or thin skin
37
Moebius syndrome
- cranial nerves VI and VII - articulation deficits (weak/paralyzed facial muscles) - feeding/swallowing issues
38
Moebius syndrome: characteristics
- affects muscles that control facial expression and eye movement - chest muscles may be affected - abnormalities of fingers
39
Nager syndrome
- SF3B4 gene - articulation deficits (jaw/cheek deformities, cleft palate) - conductive hearing loss
40
Nager syndrome: characteristics
- micrognathia (small jaw) - malar hypoplasia - hammer toes
41
Velocardiofacial syndrome
- missing small part of chromosome 22 - learning difficulties - severe velopharyngeal insufficiency (resonance) - cleft palate
42
Velocardiofacial syndrome: characteristics
- unique facial characteristics - wide nose - small ears - microcephaly - micrognathia
43
Williams syndrome
- deletion from chromosome 7 (26-28 genes) - low IQ (high music/interpersonal skills) - difficulty with conceptual/relational vocabulary
44
Williams syndrome: characteristics
- distinctive facial features - short nose with broad tip - wide mouth - full lips - small chin - puffy eyes - dental issues - overly outgoing/friendly (extreme interest in others)
45
Fetal Akinesia Deformation sequence
- RAPSN or D0K7 gene - articulation (may have cleft) - intra-uterine growth restriction
46
Fetal Akinesia Deformation sequence: characteristics
- decreased fetal movement - facial anomalies - underdevelopment of lungs
47
Potter sequence
- may be genetic or by chance - underdeveloped lungs, heart defects
48
Potter sequence: characteristics
distinct facial features: - flat nose - recessed chin - skin folds - low-set ears
49
Robin sequence
- S0X9 gene - articulation deficits (cleft palate) - hypernasality - hearing loss
50
Robin sequence: characteristics
- micrognathia (underdeveloped lower jaw) - restricted or hypo plastic - mandible - U-shaped cleft of soft palate
51
Schisis association
- unknown - articulation deficits (if cleft palate present)
52
Schisis association: characteristics
occurs when 2 or more of following anomalies are present - neural tube defects - cleft lip/palate - omphalocele (abdominal organs outside body at birth) - congenital diaphragmatic hernia
53
VACTERL association
- unknown V = vertebral abnormalities A = anal atresia C = cardiac defects T = tracheal anomalies (TE fistula) E = esophageal atresia R = renal or kidney abnormalities L = limb abnormalities
54
VACTERL association: characteristics
- facial asymmetry - ear malformations - tracheal stenosis - absent/small lungs
55
cleft lip and palate
in typical development, fusion of primary + secondary palate occurs during 1st trimester
56
cleft
lack of fusion of orofacial structures (i.e., lips, alveolus, hard and/or soft palate)
57
classifications of clefts
- primary palate - secondary palate - isolated - combination - unilateral - bilateral - complete - incomplete
58
classification of clefts: primary palate
lip, alveolus, and hard palate (anterior to incisive foramen)
59
classification of clefts: secondary palate
hard and soft palate (posterior to incisive foramen)
60
classification of clefts: isolated
cleft lip OR palate
61
classification of clefts: combination
cleft lip AND palate
62
classification of clefts: unilateral
left or right sided cleft
63
classification of clefts: bilateral
left and right sided cleft
64
classification of clefts: complete
entire length of palate (cleft extends into nose)
65
classification of clefts: incomplete
cleft does not extend into the nose
66
overt palatal cleft
- visibly open - can be observed on intra-oral inspection
67
submucous cleft
cleft is covered by mucous membrane that lines roof of mouth
68
prevalence and incidence: most common
complete cleft of lip and palate (complete combination cleft)
69
prevalence and incidence: least common
isolated cleft of lip or palate
70
prevalence and incidence: males vs. females
- males: cleft lip and palate - females: cleft palate only
71
~ _ in ___ births will be born with cleft lip and/or palate in the U.S.
1, 700
72
___ disorders most commonly present in clefts
speech
73
cleft lip and palate: speech sound disorders
- sensory-motor based phonetic errors - linguistic based phonemic errors - pressure sounds (stops, fricatives, affricates) - may produce with weak pressure - nasal emission: audible release of air through nose - compensatory errors
74
cleft lip and palate: resonance disorders
- velopharyngeal insufficiency or dysfunction: opening between mouth and nose not closed properly - hypernasality: excess nasal resonance on vowels/voiced sounds - cul de sac resonance: sound is muffled due to some obstruction
75
cleft lip and palate: speech error types
- developmental errors - obligatory errors - compensatory errors
76
developmental errors
- variations also seen in speech of normally developing kids - may or may not need therapy
77
obligatory errors
- structural abnormality (e.g., cleft) results in speech errors - fix structure before therapy
78
compensatory errors
- incorrect placement compensates for structure - traditional speech therapy
79
most common errors due to velopharyngeal dysfunction
- articulatory placement errors - obligatory errors - compensatory errors
80
articulatory placement errors
where sounds are made
81
obligatory errors
- if errors are consistent across all high pressure sounds - result of velopharyngeal insufficiency - need surgery to correct form before speech therapy - function follows form
82
compensatory errors
- if errors are inconsistent, not on all pressure sounds - result of mislearning - phoneme specific nasal emission - common compensatory errors
83
compensatory errors: result of mislearning
- adequate intra-oral pressure - may benefit from speech therapy alone - form compensated due to structure
84
compensatory errors: phoneme specific nasal emission
- error type - individual produces a pressure speech sound/class of sounds as a nasal fricative - result of mislearning and responsive to speech articulation therapy
85
compensatory errors: common
- glottal stops - pharyngeal fricatives and stops - nasal fricatives - mid-dorsum palatal stops
86
cleft lip and palate: assessment
- motor: structure and function - speech: articulation and resonance - cognitive abilities (age appropriate) - social skills: identify co morbidities - feeding and swallowing
87
cleft lip and palate: treatment
- interdisciplinary team approach - surgical repair: to correct structure - speech therapy: reduce learned behaviors - pre-surgical orthopedics - treatment will vary based on type of errors
88
evaluation of resonance
- nasal futter test - mirror test - reading lists
89
nasal flutter test
- pinch nose during prolonged vowel - a difference in resonance indicates a problem (e.g., VPI)
90
mirror test
- hold mirror under patient's nose during pressure sounds - look/listen for nasal emission
91
reading lists
- client reads word lists of minimal pairs (e.g., bad/mad) - hypernasal: nasalization of non-nasals (e.g., bad/mad sounds like mad/mad) - hyponasal: lacking nasal resonance (e.g., bad/mad sound like bad/bad)
92
compensatory treatment strategies
- initial target: stimulable sounds - auditory discrimination --> phonetic placement --> multimodal cueing
93
cleft lip and palate: 3-6 months
repair of cleft lip
94
cleft lip and palate: 6-12 months
repair of cleft palate
95
cleft lip and palate: 12 months+
speech and language therapy
96
cleft lip and palate: 6-11 years
orthodontic interventions
97
cleft lip and palate: birth-21 years
ongoing treatment and management until about 21 years old
98
cleft lip and palate: interdisciplinary team
coordinator, surgeon, orthodontist, speech-language pathologist, +1 additional specialist: - audiologist - pediatric dentist - geneticist - neurosurgeon - oral surgeon - plastic surgeon - pediatrician - ophthalmologist - otolaryngologist - prosthodontist - psychologist - social worker

NESPA Studying Guides (18 decks)

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