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HBHD > Q2 Abnormal Child Development > Flashcards

Q2 Abnormal Child Development Flashcards

1
Q

genetic causes of global developmental delay

A
  • fragile x

- Down syndrome

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2
Q

pre- and perinatal injury causes of global developmental delay

A
  • hypoxic ischemic encephalopathy

- periventricular hemorrhage

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3
Q

treatable causes of global developmental delay

A
  • congenital hypothyroidism
  • PKU
  • lead poisoning
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4
Q

what is the most common form of inherited intellectual disability

A
  • fragile X
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5
Q

fragile x presents with ________ intellectual disability in affected males and ______ intellectual disability in affected females

A
  • moderate

- no-mild

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6
Q

fragile X syndrome is caused by unstable expansion of ______ repeats in the ______ gene on the _____ chromosome

A
  • CGG
  • FMR1
  • X
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7
Q

inheritance of fragile X

A
  • X-linked dominant
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8
Q

what condition presents with abnormal facies including a long face, large ears, prominent jaw, and enlarged testes

A
  • fragile x
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9
Q

what is caused by trisomy 21

A
  • down syndrome
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10
Q

what is the most frequent identifiable genetic cause of intellectual disability

A
  • down syndrome
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11
Q

95% of trisomy 21 is due to

A
  • maternal non-disjucntion
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12
Q

Down syndrome increases with increasing maternal ______

A
  • age
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13
Q

kids with down syndrome are at an increased risk for

A
  • respiratory infections
  • leukemia
  • heart defects
  • cervical instability
  • Alzheimer disease
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14
Q

what condition is characterized by short stature, characteristic facies, enlarged tongue, and a single transverse palmar crease

A
  • Down syndrome
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15
Q

what condition occurs in iodine deficient areas

A
  • congenital hypothyroidism
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16
Q

in places with screening for congenital hypothyroidism, its occurrence is due to

A
  • failure of development of thyroid gland
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17
Q

what condition if untreated results in short stature, intellectual disability, enlarged tongue, umbilical hernia, and course facial features

A
  • congenital hypothyroidism
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18
Q

what condition if untreated presents with seizures, intellectual disability, behavioral problems, and psychiatric problems

A
  • PKU
19
Q

what condition is characterized by musty odor

A
  • PKU
20
Q

what condition is characterized by lighter skin and hair and eczema

A
  • PKU
21
Q

treatment of PKU

A
  • phenylalanine restricted diet
22
Q

PKU is caused by mutations in _____ gene encoding ______

A
  • PAH

- phenylalanine hydroxylase

23
Q

treatment for lead poisoning

A
  • environmental (remove lead)
24
Q

____ is inversely related to blood lead levels

A
  • IQ
25
Q

children with fetal alcohol syndrome have an increased risk for

A
  • heart defects
  • psychiatric illness
  • addiction
26
Q

what condition is characterized by small upper lip, loss of philtrum, large epicanthal folds, low nasal bridge, and a short nose

A
  • fetal alcohol syndrome
27
Q

TORCHS infections are what kind of infection

what does TORCHS stand for

A
  • intrauterine
  • Toxoplasmosis
  • rubella
  • cytomegalovirus
  • herpes/HIV
  • syphilis
28
Q

what condition at birth presents with rash, hepatosplenomegaly, microcephaly, hearing impairment, eye problems, mental retardation, and autism

A
  • TORCHS infection
29
Q

TORCHS infection show what on brain CT/MRI

A
  • calcifications
30
Q

what is the term for what occurs when a child who has been achieving milestones begins losing the acquired milestones

A
  • developmental regression
31
Q

what condition is characterized by developmental regression, seizures, repetitive hand movements, and growth failure

what gender does it affect

A
  • Rett syndrome

- girls only

32
Q

what are the two sphingolipidoses diseases

A
  • Tay-Sachs

- Neiman-Pick

33
Q

what conditions are associated with cherry-red spots in the retina

A
  • Tay-Sachs

- Neiman-Pick

34
Q

what condition is associated with a GM2 or hexosaminidase A deficiency

A
  • Tay Sachs
35
Q

Tay Sachs has a higher prevalence in what population

A
  • Ashkenazi Jews
36
Q

what condition is characterized by hepatosplenomagaly and relentless decline with loss of hearing and vision leading to death

A
  • Neiman Pick
37
Q

what condition is characterized by relentless decline in ability leading to death

A
  • Tay Sachs
38
Q

the mucopolysaccharidoses are a family of metabolic disorders caused by the deficiency of lysosomal enzymes needed to degrade ________

A
  • glycosaminoglycan
39
Q

what is the most common type of mucopolysaccharidos

  • deficiency of what enzyme
A
  • Hurler syndrome

- alpha L-iduronidase

40
Q

inheritance pattern of Hurler syndrome

A
  • autosomal recessive
41
Q

what condition is characterized by relentless loss of abilities with death sometime in the first two decades of life

A
  • Hurler syndrome
42
Q

treatment of hurler syndrome

A
  • bone marrow transplant
43
Q

what condition is associated with facial dysmorphism, corneal clouding, hepatosplenomegaly, valvular heart disease, obstructive airway disease, intellectual disability, hearing loss, and skeletal deformities

A
  • Hurler syndrome
44
Q

what enzymes are missing in Tay Sachs

A
  • GM2

- hexosaminidase A deficiency

HBHD (23 decks)

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