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503 > Developmental Disabilities And Chronic Illness > Flashcards

Developmental Disabilities And Chronic Illness Flashcards

1
Q

This act prohibits discrimination based on disability and increases access to education and employment?

A

American disability act

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2
Q

This is long term, not curable, has residual features that result in limitations, and requires special assistance or adaptation?

A

A chronic health condition

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3
Q

This is a severe, chronic disability of a person 5 years and older that is attributable to a mental or physical impairment or both.

A

Development disability

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4
Q

A developmental disability must manifest before ____, is likely to continue ____, and results in substantial functional limitations in ___ or more areas of major life (self-care, language, learning, mobility, etc).

A

22
Indefinitely
3 or more

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5
Q

What is the most frequent autosomal anomaly?

A

Down syndrome

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6
Q

This type of transmission of Down syndrome is responsible for the majority of cases (95%):

A

Nondisjunction

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7
Q

Is nondisjunction inherited or not inherited?

A

Not inherited

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8
Q

In nondisjunction:

A

The 2 copies of chromosome 21 fail to separate during the formation of the egg.

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9
Q

How many chromosomes will the embryo have with Down syndrome?

A

47- 3 copies of 21

Normal 46

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10
Q

During this type of transmission of Down syndrome an extra chromosome is inherited from a parent.

A

Translocation

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11
Q

In this form of Down syndrome only some cells have an extra copy of chromosome 21.

A

Mosaicism

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12
Q

Down syndrome occurs more frequently in males of females?

A

Males

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13
Q

First trimester screening for downs is:

A

Nuchal translucency combined with blood tests: pregnancy associated plasma protein (PAPP-A decreased in downs) and HCG (increased in downs)

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14
Q

Second trimester screening for Down syndrome happens at ____ and looks at:

A

15-20 weeks
Alpha fetal protein- increased in downs, turners, and neural tube defects
Estriol- made by the placenta and fetal liver
HCG

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15
Q

Second trimester Quad screening is all the other tests with what added?

A

Inhibit-a: increased equals increased risk of downs

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16
Q

Most common cardiac defect in a patient with Down’s syndrome?

A

ASD (50% of patients with Down’s syndrome have a cardiac defect)

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17
Q

Common GI malformations in patients with Down’s syndrome?

A

Hirschprungs, pyloric stenosis, duodenal atresia

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18
Q

Males with Down’s syndrome have an increase in urogenital conditions including:

A

Micropenis and hypospadias

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19
Q

Newborns with Down syndrome typically:

A

Weigh less, are typically shorter, and have smaller occipital frontal circumference

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20
Q

What is the second most common abnormality In patients with Downs?

A

Musculoskeletal and motor ability defects

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21
Q

Why is it recommended to have one set of cervical spine films on downs patients between the ages of 3-5?

A

Ensure stability of C1 and C2 due to Atlantoaxial instability

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22
Q

Screening recommendations for patients with Down syndrome:

EKG and cardiac ultrasound:

A

Birth

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23
Q

Screening recommendations for patients with Down syndrome:

Hearing:

A

Six months, 12 months, then yearly

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24
Q

Screening recommendations for patients with Down syndrome:

Thyroid:

A

T4 and TSH: six months then yearly

25
Q

Screening recommendations for patients with Down syndrome:

Eyes:

A

Six months then yearly

26
Q

Screening recommendations for patients with Down syndrome:

Teeth:

A

2 years then yearly

27
Q

Screening recommendations for patients with Down syndrome:

Sleep study:

A

3-4 years or earlier of symptoms

28
Q

Screening recommendations for patients with Down syndrome:

Neck x-rays:

A

Between 3-5 years

29
Q

Older patients with Down’s syndrome have an increase risk of:

A

Premature aging and Alzheimer’s

30
Q

Most common cause of inherited IDD?

A

Fragile X

31
Q

This is caused by an abnormal gene with a fragile site on the lower end of the long arm of the X chromosome.

A

Fragile X

32
Q

Fragile X affects males and females, but ___ often have milder symptoms?

A

Females- possibly because females have 2 X chromosomes.

33
Q

High-risk populations for Fragile X include:

A

Children with IDD of unknown etiology.
Children with a family history of IDD.
Persons diagnosed with ASD.

34
Q

Clinical manifestations of Fragile X?

A 
Long and protruding ears
Long, thin face with a prominent jaw. 
Epicanthal folds
High-arched palate
Increased head circumference
Large testes
35
Q

Behavioral manifestations of Fragile X?

A

Mild-severe IDD
Speech defects
Attention deficits
Autistic-like behaviors

36
Q

There is no cure for Fragile X, but symptom management can include?

A

Ritalin, Dexedrine, Clonidine

Interdisciplinary treatment

37
Q

Sex chromosome disorders:

A

Klinefelter syndrome

Turner syndrome

38
Q

This is a sex chromosome variation affecting males, that has a basic abnormality of the presence of an extra X chromosome. Males with this syndrome typically have 47 chromosomes XXY but can also be XXXY and XXXXY.

A

Klinefelter syndrome

39
Q

This is the most common of all sex chromosome abnormalities?

A

Klinefelter syndrome

40
Q

When does Klinefelter syndrome typically present?

A

Usually appears right after puberty when there is an absence of secondary sex characteristics.
May not be diagnosed until the male is unable to have children.

41
Q

Clinical manifestations of Klinefelter syndrome?

A

Microrchidism associated with otherwise normal genitalia, lack of sperm, and sterility.
Normal to borderline IQ
Diminished facial hair
Lack of libido

42
Q

This is a syndrome where the woman has only 1 X chromosome?

A

Turner syndrome

43
Q

Is Turner syndrome typically inherited?

A

No

44
Q

Clinical presentation of Turner syndrome?

A

Newborn: webbing of the neck; lymphedema of hands and feet.
1/3-1/2 have heart defect
Normal IQ
Most common: short stature
Early loss of ovarian function, most are infertile
Do not undergo puberty unless with hormone therapy
Scoliosis and kyphosis more common
Increased risk of osteopenia and osteoporosis

45
Q

Turner syndrome treatment?

A

Growth hormone replacement

Estrogen replacement therapy can be used starting at age 12

46
Q

What is the only totally preventable cause of IDD?

A

Fetal alcohol syndrome

47
Q

First-trimester exposure to alcohol may cause:

A

craniofacial/organ abnormalities

48
Q

Alcohol later in pregnancy causes?

A

Decreased fetal growth

49
Q

Clinical presentation of fetal alcohol syndrome?

A 
Smaller heads
Deformed facial features
Abnormal joints and limbs 
Poor coordination 
Problems with learning 
Short memories
50
Q

Newborns may be diagnosed with FAS due to?

A

Facial features, suspected alcohol exposure, low birth weight, poor growth, and microcephaly.

51
Q

CNS signs of FAS include:

A

Irritability, hypotonia, or poor feeding

52
Q

Diagnosis of FAS is easiest at what ages?

A

2-11

53
Q

Autism is higher in boys or girls?

A

Boys

54
Q

DSM-5 criteria for diagnosis of ASD?

A

A. Persistent deficit in social communication and interaction in several different contexts.
Deficits in nonverbal communication: eye contact, understanding gestures
Deficits in developing and understanding relationships, absence of interests in peers
B. Restricted, repetitive patterns of behavior, interests of activities.
C. Symptoms must be present in early development period.
D. Symptoms cause clinically significant impairment in social, occupational, or educational areas.

55
Q

How is ASD diagnosed?

A

Diagnosis is made based on behavioral and clinical observation

56
Q

Management of ASD:

A

Early diagnosis and referral are crucial as prognosis is much better if identified well under 5.
More is better.
Applied behavior analysis (ABA)- standard intervention

57
Q

Developmental screening for autism should be done:

A

During all well child checks; newborn, 6, 9, 18, 24, and 30 months

58
Q

This is a standard screening tool for autism and should be done at 16 and 30 months.

A

M Chat

Follow up interviews for any positive findings.

59
Q

How early can autism be diagnosed?

A

As early as 12 months if parents and providers are alert or it the symptoms are severe/

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