Q2 Abnormal Child Development

Question 1

genetic causes of global developmental delay

Answer 1

• fragile x

- Down syndrome

Question 2

pre- and perinatal injury causes of global developmental delay

Answer 2

• hypoxic ischemic encephalopathy

- periventricular hemorrhage

Question 3

treatable causes of global developmental delay

Answer 3

• congenital hypothyroidism
• PKU
• lead poisoning

Question 4

what is the most common form of inherited intellectual disability

Answer 4

• fragile X

Question 5

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

Answer 5

• moderate

- no-mild

Question 6

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

Answer 6

• CGG
• FMR1
• X

Question 7

inheritance of fragile X

Answer 7

• X-linked dominant

Question 8

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

Answer 8

• fragile x

Question 9

what is caused by trisomy 21

Answer 9

• down syndrome

Question 10

what is the most frequent identifiable genetic cause of intellectual disability

Answer 10

• down syndrome

Question 11

95% of trisomy 21 is due to

Answer 11

• maternal non-disjucntion

Question 12

Down syndrome increases with increasing maternal ______

Answer 12

• age

Question 13

kids with down syndrome are at an increased risk for

Answer 13

• respiratory infections
• leukemia
• heart defects
• cervical instability
• Alzheimer disease

Question 14

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

Answer 14

• Down syndrome

Question 15

what condition occurs in iodine deficient areas

Answer 15

• congenital hypothyroidism

Question 16

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

Answer 16

• failure of development of thyroid gland

Question 17

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

Answer 17

• congenital hypothyroidism

Question 18

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

Answer 18

• PKU

Question 19

what condition is characterized by musty odor

Answer 19

• PKU

Question 20

what condition is characterized by lighter skin and hair and eczema

Answer 20

• PKU

Question 21

treatment of PKU

Answer 21

• phenylalanine restricted diet

Question 22

PKU is caused by mutations in _____ gene encoding ______

Answer 22

• PAH

- phenylalanine hydroxylase

Question 23

treatment for lead poisoning

Answer 23

• environmental (remove lead)

Question 24

____ is inversely related to blood lead levels

Answer 24

• IQ

Question 25

children with fetal alcohol syndrome have an increased risk for

Answer 25

- heart defects - psychiatric illness - addiction

Question 26

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

Answer 26

- fetal alcohol syndrome

Question 27

TORCHS infections are what kind of infection what does TORCHS stand for

Answer 27

- intrauterine - Toxoplasmosis - rubella - cytomegalovirus - herpes/HIV - syphilis

Question 28

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

Answer 28

- TORCHS infection

Question 29

TORCHS infection show what on brain CT/MRI

Answer 29

- calcifications

Question 30

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

Answer 30

- developmental regression

Question 31

what condition is characterized by developmental regression, seizures, repetitive hand movements, and growth failure what gender does it affect

Answer 31

- Rett syndrome | - girls only

Question 32

what are the two sphingolipidoses diseases

Answer 32

- Tay-Sachs | - Neiman-Pick

Question 33

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

Answer 33

- Tay-Sachs | - Neiman-Pick

Question 34

what condition is associated with a GM2 or hexosaminidase A deficiency

Answer 34

- Tay Sachs

Question 35

Tay Sachs has a higher prevalence in what population

Answer 35

- Ashkenazi Jews

Question 36

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

Answer 36

- Neiman Pick

Question 37

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

Answer 37

- Tay Sachs

Question 38

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

Answer 38

- glycosaminoglycan

Question 39

what is the most common type of mucopolysaccharidos - deficiency of what enzyme

Answer 39

- Hurler syndrome | - alpha L-iduronidase

Question 40

inheritance pattern of Hurler syndrome

Answer 40

- autosomal recessive

Question 41

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

Answer 41

- Hurler syndrome

Question 42

treatment of hurler syndrome

Answer 42

- bone marrow transplant

Question 43

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

Answer 43

- Hurler syndrome

Question 44

what enzymes are missing in Tay Sachs

Answer 44

- GM2 | - hexosaminidase A deficiency