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Pediatrics > Congenital Disorders - Exam 1 > Flashcards

Congenital Disorders - Exam 1 Flashcards

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1
Q

What is neonatal abstinence syndrome? What does the babies symptoms depend on?

A

Neonate has intrauterine exposure to substance

Depends on drug, length of use, amount used , use close to delivery , etc)

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2
Q

_____ of pregnant opioid-using women reported their pregnancy was unintended

A

86%

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3
Q

T/F: NAS is only related to harmful substances such a tobacco and illicit drugs

A

FALSE!!

includes tobacco and prescription drugs such a SSRIs, anticonvulsants and retinoids

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4
Q

When should you assess mom for maternal substance abuse?

A

Initial presentation at first prenatal visit ideal with repeat screening at every trimester and periodically

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5
Q

What are some s/s of babies who are born to mother who take anticonvulsants?

A

Small head circumference

Anteverted nares

Cleft lip / palate

Distal digital hypoplasia - specifically with phenytoin (Dilantin)

Spina bifida - specifically with valproic acid

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6
Q

What are s/s of babies who were born to mother currently taking retinoids? **What is the important one to remember?

A

CNS malformations, congenital heart defects, TEF

small or absent ears

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7
Q

What s/s will a baby express if the mother was taking SSRIs?

A

CNS signs - irritability, seizure

Motor signs - agitation, tremor, hypertonia

Respiratory - increased respirations, nasal congestion

GI - diarrhea, vomiting, feeding difficulty

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8
Q

How will a baby present if the mother has been using tobacco?

A

Associated with low birth weight, infant’s ability to be comforted, with exaggerated startle reflex and tremor

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9
Q

Fetal alcohol syndrome is especially prominent in mother who intake exceed _____/day. What are some s/s? How do you dx it?

A

3 oz/day

short
poor head growth
developmental delay
midface hypoplasia
Poorly developed philtrum, thin upper lip, narrow palpebral fissures, short nose with anteverted nostrils
cardiac and genital anomalies
neural tube defects
neurobehavioral: Poor judgement, inappropriate social interactions

Diagnosis strictly based on maternal hx and clinical findings. No blood test

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10
Q

What are the facial points about fetal alcohol syndrome that Dr. Darnell pointed out during lecture?

A

quarter shaped eyes

smooth philtrum

epicanthal folds

thin upper lip

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11
Q

_____ is linked to Increased risk of depression in childhood. Hyperactivity, impulsivity, inattention, and delinquency

A

marijuana

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12
Q

____ has the most drastic effect on mother and fetus. Including low birth weight, prematurity and IUGR

A

opiates

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13
Q

When does heroin withdrawal typically start after birth? When does BZD withdrawal typically start?

A

Heroin withdrawal may start at 24 hrs after birth and peak at 48-72 hrs, but may be delayed as long as 6 days

BZD: Due to longer half life, withdrawal may not start for 2 wks

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14
Q

Why do babies have a harder time metabolizing the substances?

A

accumulation occurs in the fetus because of the immaturity of renal function and the enzymes used for metabolism

aka the kidneys and liver are NOT well develop and they have a hard time

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15
Q

High-pitched cry
Jitteriness
Tremors
Convulsions
Sweating, fever
Mottling
Excessive sucking and rooting
Poor feeding
Vomiting and diarrhea

What am I?
What would you use to dx?

A

neonatal abstinence syndrome

babies are constantly screaming

Blood tests, urine toxicology, meconium analysis, cord blood, hair

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16
Q

______ is used to rate newborn born potentially addicted to substances. What score indicates treatment? How often is it checked?

A

neonatal abstinence score

3 scores of 8s in a row, then you need to treat

q 3-4 hours unless the infant scored 8 or higher then the interval is increased to q 2 hours and continued for 24 hours from the last score that was 8 or higher

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17
Q

When do you start scoring the infant according to NAS? What if the baby does not need tx?

A

first score is noted 2 hours after birth/admission

if rx is NOT needed then the infant is scored for the first 4 days of life at 4 hour intervals

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18
Q

What is Finnegan CNS based on?

A

high pitched cry
sleep
moro reflex

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19
Q

What is the first line treatment for NAS? 2nd line? What is used as an analgesic in the NICU?

A

1st line: morphine or methadone

2nd line: Phenobarbital

fentanyl used for pain relief, usually with morphine

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20
Q

_____ is the tx for an opioid dependent mother for detoxification

A

methadone

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21
Q

_______ prenatal exposure required less morphine, with shorter recovery time and less hospitalization for infants than Methadone

A

Buprenorphine (Subutex / Suboxone)

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22
Q

High dose of _____ use should undergo medical detoxification to minimize or prevent withdrawal symptoms

A

Benzodiazepine

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23
Q

Compare methadone to Suboxone in terms of benefits to mom and baby

A

methadone: better rate of retaining mom in tx program

suboxone: is better for baby because it leads to lower rates of withdrawal and higher birth weights in babies

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24
Q

A baby born with small or absent ears may have had a mom taking what ?

A

retinoids

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25
FDA Class of drugs in pregnancy is now known as what ?
PLLR Pregnancy,Lactation Labeling Rule
26
_____ generally contraindicated in pregnant women. Caution in women who may become pregnant within ______ period
Live vaccines within 4 weeks
27
What 4 vaccines are NOT APPROVED to give while pregnant?
HPV Flu Mist via nose MMR Varicella
28
What congenital disorders are considered aneuploidy? What is it?
Aneuploidy- abnormal number of chromosome Trisomies 13, 18, 21 Klinefelter Syndrome (47, XXY) Turner Syndrome (45, X)
29
What are 2 autosomal dominant disorders?
Marfan's Syndrome Achondroplasia (dwarfism)
30
What are 2 autosomal recessive disorders?
Cystic Fibrosis Phenylketonuria (PKU)
31
______ is an X linked recessive disorder
fragile X syndrome
32
What are the 4 components of the Quad screening? What are the 2 invasive testing options?
Beta-hCG, AFP, Inhibin A, Estriol Choroid villus sampling or Amniocentesis
33
_____ is the MC abnormality of chromosome number. When in replication does it occur?
trisomy 21 Meiosis 1
34
40% of trisomy 21 babies will have _____
cardiac abnormalities
35
Normal birth weight Hypotonia Flattened occiput, nasal bridge Upslanting of the palpebral fissures, epicanthal folds **Large, protruding tongue** **Single Palmar creases and wide gap between first and second toes Cognitive delay **curved 5th digit What am I?
trisomy 21
36
What are 5 body systems that are more likely to have problems for kid with trisomy 21?
⅓ - ½ have congenital heart disease GI anomalies: esophageal and duodenal atresia and CELIAC hypothyroidism polycythemia at birth with prolonged jaundice 12-20 fold increase of leukemia!!
37
What week gestation is it recommended to get a quad screen?
week 14-18
38
**Draw the chart that show the results of the Quad screen as it relates to Down, Turner, Edward and Patau Syndrome
39
What are the odds of a 35 year old woman having a child with Down Syndrome? 40? 45?
35: 1/350 40: 1/100 45: 1/30
40
What is another name for Edward's Syndrome? What does 95% of the population have? What is the 1 year survival rate?
trisomy 18 95% have heart defects 2%
41
Describe the hands, feet, chest and head of a baby with Trisomy 18?
Overlapping fingers with CLENCHED FIST rocker-bottom feet wide sterum with wide set nipples prominent occiput
42
What is this? What genetic condition?
rocker bottom feet trisomy 18
43
What am I? What genetic condition? How do you dx?
crossing over fingers trisomy 18 genetic testing
44
______ is the 2nd MC autosomal trisomy/ What is the MC defect? What is the MC cause of death?
trisomy 18 ventricular septal defect central apnea
45
What is another name for trisomy 13? What are common abnormalities? What is the 1 year survival rate? MC in male or female?
Patau's Syndrome Abnormalities of every organ system and most are incompatible with life 3% 60% are female
46
**What are the prominent features of trisomy 13 that were mentioned in lecture?
**eye are super close set if not fused together as one **extra digits **cleft lip **clenched hands **aplasia cutis congenita (cutis aplasia)
47
**What am I? What genetic condition?
Aplasia cutis congenita (Cutis aplasia) trisomy 13 Absence of a portion of skin in a localized or widespread area at birth, 70% on the scalp
48
_____% of trisomy 18 pregnancies end in spontaneous abortion. MC in males or females?
85% MC in females, 3:1 ratio
49
What is the karyotype of Klinefelter Syndrome? How common is it? What does it come from?
XXY 1 in 1000 males Extra X Chromosome arises from nondisjunction in either the sperm or egg
50
______ is the most common genetic cause of hypogonadism and infertility in men. When is it usually recognized?
Klinefelter Syndrome age 15-16
51
Gynecomastia Tall, long limbs Normal pubic hair but gonadal dysgenesis small testis lack of libido minimal facial hair normal to low IQ usually infertile What am I? **What is the highlighted symptom?
Klinefelter syndrome **small testis, tall slender men
52
What should clue clinicians in to Klinefelter Syndrome?
Progressive development of pubic and axillary hair in the presence of infantile testicular volume Males fail to progress to increased facial hair, deepening voice, increased libido
53
In Klinefelter Syndrome, what determines how intellectually impaired they are?
may have XXY, XXXY, or XXXXY. - if so, the more X they have the more intellectually impaired
54
How do you dx Klinefelter Syndrome? What is the tx?
dx: genetic testing tx: testosterone replacement therapy
55
What is the karyotype for Turner Syndrome? What is it caused by? How common is it? What is the life expectancy?
45, XO Sex chromosome disorder caused by loss of part or all of an X chromosome 1 in 2000 - 2500 live female births normal intelligence and life expectancy
56
95 - 99% of embryos with 45 X are ______. **What is the characteristic feature?
spontaneously aborted **Web neck, with shield chest with widened nipple distance, puggy hands, low hairline
57
**Why is Turner syndrome not a good thing to have?
**Aortic valve defects, coarctation also tend to have a horseshoe kidney, be short and dont go through puberty and are infertile
58
10% of women with Turner Syndrome _______ but may need ______
have normal pubertal development estrogen replacement to complete sexual development
59
Females with Turner Syndrome, will the estrogen correct the infertility? _____ is a potentially life threatening complication of pregnancy
estrogen does NOT correct infertility, 10% can get pregnant heart disease and aortic dissection while pregnant
60
What is the tx for Turner Syndrome?
androgens, human growth hormones, small doses of estrogen and later progesterone
61
How do females with Turner Syndrome carry their arms?
have a wider carrying angle of their arms when by their side in anatomical position
62
How is Marfan syndrome inherited? What gene? Does it effect males and females?
Autosomal dominant connective tissue disorder Mutation in the fibrillin 1 gene on chromosome 15q21.1 both sexes equally
63
What are the classic s/s of Marfan syndrome?
tall, thin with super long wing span dislocation of the lens and cataracts Pectus excavatum or carinatum and scoliosis
64
How does Marfan Syndrome affect the heart? **How do you dx Marfan syndrome?
Progressive dilation of the aortic root and dysrhythmias Ghent criteria to calculate Marfan score
65
What are the 3 general complications of Marfan's syndrome?
sciolosis astigatism, myopia and lens dislocation MVP, progressive aortic root dilation - causing aortic insufficiency, aneurysmal rupture, progressive valvular incompetence
66
What is the tx for Marfan's Syndrome? **What is the exercise recommendation?
serial echos!! with BB and losartan to tx cardiac abnormalities frequent eye exams genetic eval ***Restriction of strenuous exercise
67
_____ is used to slow rate of aortic root dilation in Marfan's syndrome
losartan
68
** _____ is the MC inherited cause of mental retardation / cognitive disability in males. **What is the responsible gene?
fragile X syndrome FMR1
69
How common is fragile X?
1 in 1000-4000 males; 1 in every 7000-9000 females
70
Intellectual disabilities Oblong face with large ears Large Testis Hyperextensible joints Mitral Valve Prolapse Broad foreheads What am I? How do you dx? What is the tx?
fragile X genetic testing Genetic counseling Behavioral therapy psych, developmental specialists etc
71
How is CF inherited? **What gene?
autosomal recessive **Gene located on long arm of Chromosome 7 - CFTR
72
_____ is the MC life-shortening autosomal recessive genetic disease among Caucasians. How common is it?
CF 1 in 3000 Caucasians; 1 in 22 are carriers
73
**What is the pathophys behind CF?
1. Thick, viscous secretions in the lungs, pancreas, liver, intestine, reproductive tract, lead to increased salt content in sweat glands. 2. Chronic PROGRESSIVE disease that can present with protein and fat malabsorption (failure to thrive, hypoalbuminemia, steatorrhea), liver disease (cholestatic jaundice), or chronic respiratory infection
74
What are 4 common organ systems that have complications due to CF?
1. nose: Rhinitis, nasal polyps, sinusitis 2. respiratory tract: impermeability to chloride and excessive reabsorption of sodium - results in decreased mucociliary transport- think chronic lung infections 3. GI- Meconium ileus or peritonitis, volvulus, rectal prolapse, intussusception, growth failure (due to malabsorption) 4. Genitourinary- Infertility - abnormal mucus in sperm and fallopian tubes, delayed puberty (due to nutritional def and underweight), digital clubbing. More than 95% are infertile
75
**What 3 pathogens love to colonize the airway of a pt with CF?
Staph aureus Haemophilus influenzae Pseudomonas aeruginosa
76
What type of pulmonary disease will a pt with CF PFTs be consistent with?
obstructive airway disease!
77
How is CF dx? **How is the dx confirmed? ______ is used for the test
newborn screening in most states Confirmed by positive sweat chloride test (>60 mmol/L) pilocarpine is used for sweat test
78
What is the tx for CF?
follow with pulm and infectious dz PERT (Pancreatic enzyme replacement therapy ) frequent abx thereapy, neb tx and vibrating vest to break up mucous in chest LUNG transplant!!
79
How is PKU inherited? What is a result of?
Autosomal recessive metabolic disease Lack the enzyme to break down phenylalanine
80
**What will a kid with untreated PKU smell like? If not treated, what is the kid at risk for?
Untreated kids have a musty or “mousy “ odor If diet not followed, run risk of developmental delay , seizures , intellectual issues, mental health issues
81
A kid with PKU must restrict _____ and ______
protein restricted aspartame
82
What are cleft lip/palate caused from? Are they MC in males or females?
Caused by relative excesses or deficits of tissue along the linear anatomic planes male: cleft lip/palate together male cleft lip solo female: cleft palate solo
83
What week of gestation does a cleft lip/palate form?
third and eighth weeks gestation. When fusion of the face, around the 6th week is disrupted
84
What are the risk factors for a cleft lip/palate?
family hx Exposure to radiation Viral infections Metabolic abnormalities Teratogenic compounds (Phenytoin, Valproic acid, thalidomide, ETOH, tobacco, dioxins and herbicides)
85
How is a cleft palate diagnosed? What is the prevention?
2nd trimester of preg on US high dose folic acid and mutlivitamin
86
Why is cleft lip/palate a problem? What is the tx?
Direct communication between the nasal and oral cavities, creating problems with speech and feeding and ears Surgical closure (lip - usually by 12 months of age, followed by palate by 18 months of age) speech therapy, dental help, genetic counseling
87
What is the underlying cause of Duchenne Muscular dystrophy? What gene?
Synthesis failure of the muscle cytoskeletal protein dystrophin DMD gene on X chromosome: muscle does not maintain its integrity
88
Is Duchenne muscular dystrophy MC in males or females? What are some common signs?
1 in 4,000 males. Can also happen ( rarely ) in females proximal muscle weakness and hypertrophic calf muscles
89
What lac value will be crazy high in Duchenne Muscular Dystrophy? What age? How do you dx?
Serum creatine kinase levels markedly elevated noticeable around 5-6 years old detecting duplications or deletions of the dystrophin gene
90
What is the tx for Duchenne MD? What is the prognosis?
Corticosteroids Death usually in 20’s due to cardiac or respiratory failure
91
**What is Ehlers-Danlos Syndrome? What are some classic findings?
**Inherited genetic disorder involving a defect in the collagen and connective tissue synthesis and structure Joint hypermobility, cutaneous fragility (skin extensibility with scarring tendency), and hyperextensibility
92
Why is Ehlers-Danlos Syndrome a bad thing? What is the joint scoring system used?
May also have aortic aneurysms, valvular prolapse, or spontaneous pneumothorax The Beighton scoring system measures JOINT HYPERMOBILITY
93
What is the highest score possible for Beighton Scoring system? What dz?
9 is the total score Ehlers-Danlos Syndrome but just measures JOINT HYPERMOBILITY
94
______ criteria is the scoring system used to dx Ehlers-Danlos Syndrome? What 2 additional things factor into the dx?
Brighton criteria genetic testing and Beighton score
95
Are patients with Ehlers-Danlos Syndrome allowed to play sports?
Avoidance of dangerous contact sports
96
What 5 parts of the body are tested for in the Beighton score?
Pinky finger thumbs elbows knees spine
97

Pediatrics (24 decks)

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