Developmental Disabilities And Chronic Illness

Question 1

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

Answer 1

American disability act

Question 2

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

Answer 2

A chronic health condition

Question 3

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

Answer 3

Development disability

Question 4

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).

Answer 4

22
Indefinitely
3 or more

Question 5

What is the most frequent autosomal anomaly?

Answer 5

Down syndrome

Question 6

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

Answer 6

Nondisjunction

Question 7

Is nondisjunction inherited or not inherited?

Answer 7

Not inherited

Question 8

In nondisjunction:

Answer 8

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

Question 9

How many chromosomes will the embryo have with Down syndrome?

Answer 9

47- 3 copies of 21

Normal 46

Question 10

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

Answer 10

Translocation

Question 11

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

Answer 11

Mosaicism

Question 12

Down syndrome occurs more frequently in males of females?

Answer 12

Males

Question 13

First trimester screening for downs is:

Answer 13

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

Question 14

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

Answer 14

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

Question 15

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

Answer 15

Inhibit-a: increased equals increased risk of downs

Question 16

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

Answer 16

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

Question 17

Common GI malformations in patients with Down’s syndrome?

Answer 17

Hirschprungs, pyloric stenosis, duodenal atresia

Question 18

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

Answer 18

Micropenis and hypospadias

Question 19

Newborns with Down syndrome typically:

Answer 19

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

Question 20

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

Answer 20

Musculoskeletal and motor ability defects

Question 21

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

Answer 21

Ensure stability of C1 and C2 due to Atlantoaxial instability

Question 22

Screening recommendations for patients with Down syndrome:

EKG and cardiac ultrasound:

Answer 22

Birth

Question 23

Screening recommendations for patients with Down syndrome:

Hearing:

Answer 23

Six months, 12 months, then yearly

Question 24

Screening recommendations for patients with Down syndrome:

Thyroid:

Answer 24

T4 and TSH: six months then yearly

Question 25

Screening recommendations for patients with Down syndrome: | Eyes:

Answer 25

Six months then yearly

Question 26

Screening recommendations for patients with Down syndrome: | Teeth:

Answer 26

2 years then yearly

Question 27

Screening recommendations for patients with Down syndrome: | Sleep study:

Answer 27

3-4 years or earlier of symptoms

Question 28

Screening recommendations for patients with Down syndrome: | Neck x-rays:

Answer 28

Between 3-5 years

Question 29

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

Answer 29

Premature aging and Alzheimer’s

Question 30

Most common cause of inherited IDD?

Answer 30

Fragile X

Question 31

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

Answer 31

Fragile X

Question 32

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

Answer 32

Females- possibly because females have 2 X chromosomes.

Question 33

High-risk populations for Fragile X include:

Answer 33

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

Question 34

Clinical manifestations of Fragile X?

Answer 34

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

Question 35

Behavioral manifestations of Fragile X?

Answer 35

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

Question 36

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

Answer 36

Ritalin, Dexedrine, Clonidine | Interdisciplinary treatment

Question 37

Sex chromosome disorders:

Answer 37

Klinefelter syndrome | Turner syndrome

Question 38

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.

Answer 38

Klinefelter syndrome

Question 39

This is the most common of all sex chromosome abnormalities?

Answer 39

Klinefelter syndrome

Question 40

When does Klinefelter syndrome typically present?

Answer 40

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.

Question 41

Clinical manifestations of Klinefelter syndrome?

Answer 41

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

Question 42

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

Answer 42

Turner syndrome

Question 43

Is Turner syndrome typically inherited?

Answer 43

No

Question 44

Clinical presentation of Turner syndrome?

Answer 44

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

Question 45

Turner syndrome treatment?

Answer 45

Growth hormone replacement | Estrogen replacement therapy can be used starting at age 12

Question 46

What is the only totally preventable cause of IDD?

Answer 46

Fetal alcohol syndrome

Question 47

First-trimester exposure to alcohol may cause:

Answer 47

craniofacial/organ abnormalities

Question 48

Alcohol later in pregnancy causes?

Answer 48

Decreased fetal growth

Question 49

Clinical presentation of fetal alcohol syndrome?

Answer 49

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

Question 50

Newborns may be diagnosed with FAS due to?

Answer 50

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

Question 51

CNS signs of FAS include:

Answer 51

Irritability, hypotonia, or poor feeding

Question 52

Diagnosis of FAS is easiest at what ages?

Answer 52

2-11

Question 53

Autism is higher in boys or girls?

Answer 53

Boys

Question 54

DSM-5 criteria for diagnosis of ASD?

Answer 54

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.

Question 55

How is ASD diagnosed?

Answer 55

Diagnosis is made based on behavioral and clinical observation

Question 56

Management of ASD:

Answer 56

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

Question 57

Developmental screening for autism should be done:

Answer 57

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

Question 58

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

Answer 58

M Chat | Follow up interviews for any positive findings.

Question 59

How early can autism be diagnosed?

Answer 59

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