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Fall 2020 Exam 2 > Down Syndrome > Flashcards

Down Syndrome Flashcards

1
Q

Down syndrome genetic component

A

extra genetic material on chromosome 21

Trisomy 21

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2
Q

Non familial trisomy 21

A

95% of kids with down syndrome

sporadic

there are 47 chromosomes with a free extra chromosome 21

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3
Q

unbalanced translocation

A

occurs between 21 and another acrocentric chrom

acrocentric chrom is usually 14

3/4 of unbalanced translocations are de novo ( not inherited)

occurs at time of conception or inherited

1/4 recieve affected chrom from 1 parent

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4
Q

Mosaicism

A

1-2% of cases

there is a mix of two cell lines, one normal and one trisomy 21

milder than complete trisomy or translocation 21

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5
Q

children per year

A

6,000

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6
Q

AMA risk

20, 35, 40

A

1: 1441
1: 338
1: 84

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7
Q

Average life expectancy

A

60 years

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8
Q

Comorbidities

A

hearing loss - 75%

OM- 50-70%

eye disorders- 60%

OSA

Cong heart defects

GI problems

Hip dislocation, thyroid disease, hematologic dysfunction, neurologic dysfunction

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9
Q

First trimester screening

A

maternal age

nuchal translucency ultrasound

mat serum human chorionic gonadotropin

preg ass plasma protien A

(detection rate of DS is 82-87%)

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10
Q

Second semester

A

Quad screening, includes maternal age risk

maternal serum hCG

unconjugated sdtriol

AFP (a-fetoprotein)

inhibin levels

(detection rate is 80%)

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11
Q

Success rate of combine first and second semester screenings

A

95%

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12
Q

Aneuploidy

A

Presence of an abnormal number of chromosomes instead of the normal 46

ACOG recomends screening for all women before 20 weeks gestation regardless of maternal age

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13
Q

Neonate with no screenings

A

review family hx

prev pregnancies, miscarriages, children born with DS or developmental delay

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14
Q

Presenting physical s/s

A

GENERALIZED HYPOTONIA

epicanthial folds,narrow, upward-slanting palpebral fisures

brushfield spots (yellow or white spots on the anterior surface of the eye)

small, brachycephalic (flat) head, small mouth

dysplastic ears, abnormally shaped auricles

single palmar crease, short 5th finger, may be bent or curved

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15
Q

Most striking s/s in PCP

A

intelectual disability

developmental delays

hearing loss

hypotonia as an infant

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16
Q

Diagnosis

FISH

A

Flourescence in situ hybridization

identifies extra copy of chrom 21

17
Q

Diagnosis

Karyoptype

A

can identify translocation

18
Q

diagnostics

CBC

A

looking for luekemoid reaction or polycythemia

transient myeloproferative disorder ( ass with pancytopenia, hepatosplenomegaly, circulating immature WBCs) incidence is 10% in DS kids

newborn screen including cong hypothyroid incl TSH

19
Q

Treatments

A

Manage comorbid conditions, no real treatment

20
Q

Growth charts

A

No longer using DS charts, follow standard charts

increased risk of obesity and BMI >85%

development should follow non DS peers

21
Q

Safety

A

keep cervical neck stabilized

22
Q

sleep

A

increased risk for OSA

sleep study if tired or behavioral problems

23
Q

Vaccine recomendations

A

all recomended plus flu, RSV due to increased risk

If >2 years with chronic pulm or cardio disease then PPSV 23 is recomended also

24
Q

ears

A

freq otitis media

25
Q

vision

A

red reflex to check for cataracts

26
Q

oral

A

delayed or irregular tooth erruption d/t hypotonia

protruding or fisured tongue

27
Q

neuro

A

assess tone

28
Q

neck

A

torticollis

stiffness

atlantoxial instability (AAI) - instability of the cervical spine

29
Q

lungs

A

wheezing, stridor

cyanosis

murmurs, tachycardia

30
Q

genetalia

A

Male-

micropenis, cryptorchidism, hypospadias

Female-

labia majora is shorter and wider

31
Q

when is hearing screening in DS done?

A

newborn then

repeat at 6 months

and 12 months

32
Q

TSH

A

repeat at 6 and 12 months

33
Q

annual lab work

A

Hgb at 1 year then annual

serum feritin, CRP, reticulocyte hgb concentration

(MCV is non useful for IDA d/t increased MCV)

34
Q

Sleep study at age?

A

4

35
Q

sports

A

NO CONTACT SPORTS due to AAI and risk of spinal cord injury

no trampolines

can still participate in special olympics with screening and meeting special requirements

36
Q

Symptomatic AAI

A

significant neck pain, weakness, spasticity, change in muscle tone or gait, hyperreflexia, change in bowel or bladder function, signs of myopathy warrants:

cervical spine Xray in nuetral position

37
Q

DS psychosocial concerns

A

ADHD, OCD, noncompliance, wandering

IQ 20-70

need IEP

38
Q

Risk of passing on for DS children

A

50% to their own children, discuss BC options

Fall 2020 Exam 2 (7 decks)

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