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PSCL 479 > Exam 2 > Flashcards

Exam 2 Flashcards

1
Q

Physical features of fragile X in females

A

More subtle, menstrual cycle problems in early menopause and ovarian cysts but generally more of a cognitive problem

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2
Q

Missense mutation

A

Replacement of a single amino acid for another in the protein chain example: PKU

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3
Q

2nd most common genetic cause of ID

A

Fragile X syndrome

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4
Q

Nonsense mutation

A

Replacement of a single amino acid causes premature termination of protein formation example: Neurofibromatosis

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5
Q

Triplet Repeat Expansion

A

Repeated multiple times of a certain regions of genes, marked expansion can cause a gene to be turned off, occurs in fragile X

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6
Q

Most common form of ID in males

A

Fragile X syndrome

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7
Q

Who should be screened for fragile X

A

individuals of either sex with ID, DD, or asd especially if there is physical or behavioral features, family history of fragile X, relatives with undiagnosed ID

Individuals seeking reproductive counseling who have a family history of fragile X or family history of undiagnosed ID

Fetuses of known carrier females

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8
Q

Physical Characteristics of Fragile X syndrome in males

A

Long narrow face, large ears, prominent jaw and forehead, larger head circumference than other ID people, arched palate

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9
Q

Progression of cognitive performance of females with fragile X

A

Only small % of females show IQ decline (unclear why)

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10
Q

Percent of children receiving SPED services with Fragile X

A

1.1%

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11
Q

Triple Repeat Expansion becomes ___ severe from one generation to the next

A

more

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12
Q

Cognitive impairment in fragile X

A

Wide range in IDD, early milestone delays

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13
Q

One third of all x linked causes of ID

A

Fragile X syndrome

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14
Q

Phenklketonuria (PKY) cause, symptoms, prevalence, how to detect

A

Cause: Single base substitution causes error in production at 12q14.1

Symptoms: Accumulation of phenylalanine in blood that cause brain damage

Prevalence: 1 in 10,000

How to detect: newborn screening can detect PKU

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15
Q

Reasons for progression of cognitive performance of males with fragile X

A

Reasons are unclear, theories: due to age related changes in size of brain structures important for learning, attention and memory (STG, hippocampus), lack of FMR1 protein causes damaging effects that extend beyond childhood

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16
Q

If mother passes fragile X to offspring

A

Almost always TRE

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17
Q

Generally, males with full mutation of fragile X show ____ characteristics

A

clinical

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18
Q

Progression of cognitive performance of males with fragile X

A

IQ declines over time because of slower rate of acquisition of skills

1-5 yrs: 55 (mean iq)
6-10 yrs: 50
11-15 yrs: 43
16-20 yrs: 39

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19
Q

How was fragile X diagnosed before FMR1 gene was identified

A

visual inspection of fragile X symptoms – accurate for affected males and females with ID but couldn’t detected unaffected females, males for prenatal diagnosis

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20
Q

More than ___ of females with full mutation have symptoms, the other protected from symptoms by the normal ____ gene on their ____ chromosome

A

50%, FMR1, 2nd

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21
Q

If father passes on fragile X to daughter

A

Usually no TRE but daughter has premutation

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22
Q

Processing type and language for males with fragile X

A

Simultaneous processing > sequential learning, echolalia, preservative speech, word finding difficulty

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23
Q

Point mutation / single base pair substitution

A

Most common type of mutation, usually not a problem but two types - missense mutation and nonsense mutation

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24
Q

What does untreated PKU lead to

A

ID, Microephaly (Small head), Abnormal walk, Seizures

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25
Q

Number of CGG repeats and their classifications

A

6 - 45: normal, 45 - 54: grey zone, 50 - 200: unstable mutation (premutation carriers), 200 - 3000: affected with full mutation

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26
Q

Why is it called fragile X syndrome

A

Because the bottom tip of the long arm of the X chromosome constricts and becomes threadlike: fragile

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27
Q

Gene fragile X screws up

A

FMR1

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28
Q

Rett syndrome: mutation locus, prevalence, characteristics

A

Locus: Xq28

Only in females - fatal for males, 1 in 10,000

normal development until 6 - 9 months, post natal microcepahly and ID, progressive deterioration, features of autism, characteristic hand-wringing

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29
Q

Fragile X genetic disorder type

A

Recessive X linked disorder, Single gene disorder

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30
Q

What is triple repeat expression in fragile X

A

describes the repetition of CGG gene on the X chromosome

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31
Q

Fragile X syndrome prevalence rates in males and females

A

Males: 1 in 4000, Females: 1 in 4000 - 6000

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32
Q

Insertions and Deletions

A

One or more base pairs can be inserted or deleted in the chain, can lead to a frame shift which causes production of nonfunctional protein

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33
Q

Number of women in the US that are Fragile X syndrome premutation carriers

A

1 million

34
Q

3 types of genetically distinct males of fragile X in males

A

Fully methylated CGG repeats: mild to moderate IQ,

Mosaic for Fragile X: borderline to low average IQ,

Unusual pattern males: average to low average IQ

35
Q

Most common inherited cause of ID and ASD

A

Fragile X syndrome

36
Q

Indicator for testing fragile X syndrome

A

History of excessive shyness in mother

37
Q

Comorbid behaviors with Fragile X

A

Autism (10 - 30%) fewer for females (15%)

2 - 5% of asd people have fragile X

90% of males have 1+ ASD symptom, of note is gaze avoidance is usually less impaired than autism, and the fragile X handshake (shake hand but no eye contact until they look away)

38
Q

Comorbid behaviors with Fragile X for females

A

Full mutation: less severse than males but problems relating to others, (shy, social withdraw, avoidance, isolation etc)

Premutation: may be socially sensitive or anxious than full mutation peeps

39
Q

Expression of fragile X gene mutation is influenced by what

A

which parent passes it on

40
Q

What does cognitive impairment in females for fragile X rely on

A

Proportion of cells with normal X chromosome activation to Fragile X cells. Therefore, females with full mutation generally less impaired than males because they produce more normal FMR1 protein from their normal chomsome

41
Q

Only a ___ number of mutations are viable

A

small

42
Q

Likelihood of a mutation increases…

A

with the size of the gene

43
Q

Prevalence of Tay-Sachs

A

1 in 112,000, prevalence in Ashenazi Jews 1 in 3800

44
Q

Technical physical characteristics of fragile X syndrome in males

A

double jointedness and flat feet (if loose CT), ear infections because of poor tube drainage, and mitral valve prolapse (improper closure of value between heart’s upper and lower left chambers)

As well as macroorchidism (large testicles) which is present in 80 - 96% of postpubertal males and can also found in other adults with ID but its bigger in FRX

45
Q

Tay-Sachs disease

A

Mutation in gene 15q23-24, deficency in enzyme Hex-A, Progressive neurological deterioration: deafness, blindness, seizures, fatality by 5yrs old

46
Q

Autosomal Recessive Disorders

A

Abnormal gene inherited from both mom and dad example: Tay-Sachs disease, casued by a single abnormal allele

47
Q

Neurofibromatosis

A

Nonsense mutation, unaffected children don’t carry, 50% of cases arise from new mutations

48
Q

How is the fragile X gene screwed up

A

Contains repeated CGG DNA sequence, does not produce the normal protein that helps postnatal brain development

49
Q

Cognitive impairment of fragile X in females

A

Depends on amount of FMR1 protein produced, Verbal skills better than performance abilities, not reliant on the number of repeats

50
Q

Neurofibromatosis cause

A

Lack of neurofibromin causes multiple neurofibroma tumors on body and brain

51
Q

Mutations

A

Alteration in the DNA that typically occurs during mitosis and meiosis, usually, the new cell dies or is repaired

52
Q

Neurobiological symptom of repeated CGGs

A

Turns off gene to methylate causing decrease in FMR protein

53
Q

Characteristics of PWS that most often impact daily living

A

Hyperphagia, Compulsive behavior/preservations

54
Q

Hyperphagia definition

A

Abnormally increased appetite for and consumption of food, thought to be associated with a lesion of injury in the hypothalamus

55
Q

Hypothalamus role in the body

A

Hunger and thirst, sleep wake cycle, temperature regulation, Metabolism, reproductive function

56
Q

When is the onset of PWS

A

2 - 4 years old

57
Q

Severity of PWS

A

Varies person to person but always some hyperphagia

58
Q

Behaviors of hyperphagia and pws

A

repeated questions about meal contents and meal time, Food seeking and hoarding, and eating unappealing substances

59
Q

What is ghrelin

A

Hormone secreted by the stomach, hypothalamus, pituitary, and other sites

involved in energy balance and appetite regulation

blood concentration of ghrelin are lowest after meal consumption, then increase

60
Q

PWS prevalence

A

1 in 15,000

61
Q

PWS and muscle tone

A

Hypotonia at birth and poor muscle tone throughout life

62
Q

PWS has ___ metabolic rate

A

slow

63
Q

PWS kids have ___ stature and ____ extremities

A

short, small

64
Q

Growth hormone treatment in PWS

A

Incrases height, decreases body fat, increases muscle mass, improves weight distribution, increases stamina, increases bone mineral density, mixed findings on behavior

65
Q

Cognitive/Vehavioral problems in PWS

A

Low average to mild moderate ID

Emotional outbursts/tantrums

Compulsive behavior

Skin picking

Increased risk for ASD

66
Q

in PWS ____ requirement for calories

A

Decreased, due to hypotonia, decreased activity, and short stature

67
Q

Hypotonia

A

Decreased muscle tone

68
Q

In PWS ____ threshold for vomiting and ____ pain perception

A

High, decreased; leads to eating a lot of food without discomfort

69
Q

What can negatively impact prenatal development

A

Maternal Stress, Environmental Toxins: Toxoplasmosis, lead, plastics, mercucry, diet, maternal infections, drugs and alcohol

70
Q

Nutrition as an influence on prentala development

A

Bad maternal nutrition can result in premature birth and low birth weight, lack of folic acid can increase risk of neural tube defects

71
Q

Stress as an influence on prenatal development

A

low birth weight and premature births

72
Q

What is a critical period

A

Period of time that organs develop

73
Q

True or false: During a critical period, a certain organ is vulnerable to toxin, viruses, and genetic abnormalities

A

True

74
Q

How come If there is 40 weeks of pregnancy but 38 weeks is full term

A

38 refers to the date from the woman’s last period

75
Q

True or False: In the first couple of weeks, (before implantation) you’re susceptible to teratogens

A

False

76
Q

Mother’s Age as an influence onf prenatal development

A

More likley to have difficulty getting pregnant, miscarriages, stillbirths

50% of pregancnies among women in their 40 and 50s result in miscarriage

77
Q

The TORCH Maternal Infections

A

Toxoplamosi, Others (HIV, syphilis), Rubella, Cytomegalovirus, Gential Herpes

78
Q

Effects of TORCH

A

neurological disorders, deafness, blindness, mental disability, damage to bones, eyes, ears, or heart

79
Q

The birthweight categories

A

Low birth weight

80
Q
A

PSCL 479 (14 decks)

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