Abnormal Development

Question 1

what are the two types of delay in global developmental delay?

Answer 1

motor and language delay

Question 2

what are common genetic causes of global developmental delat?

Answer 2

fragile x and DS

Question 3

what are preventable causes of global developmental delay?

Answer 3

maternal drug and alcohol use
intrauterine infection
nutritional deficiencies

Question 4

what is the most common inherited cause of intellectual disability?

Answer 4

fragile X syndrome

Question 5

what is the most common inherited cause of fragile X?

Answer 5

CGG repeats in the FMR1 gene on the X chromosome

Question 6

what do boys get in fragile X syndrome?

Answer 6

long face, large ears, enlarged testes

Question 7

what are the treatable causes of global developmental delay?

Answer 7

congenital hypothyroidism
phenylketonuria
lead posioning

Question 8

if hypothyroidism is untreated, what three things can develop?

Answer 8

short stature
ID
enlarged tongue and coarse facial features

Question 9

now a days, what is usual cause of hypothyroidism?

Answer 9

failure of thyroid gland development

Question 10

what is the cause of PKU?

Answer 10

PAH gene mutations for phenylalanine hydroxylase

Question 11

what is Rx for PKU/

Answer 11

phenylalanine restricted diet

Question 12

if untreated what can you get with PKU? 4 things

Answer 12

seizures
ID
behavioral and psych issues
musty odor

Question 13

what can lead poisoning lead to?

Answer 13

low IQ…inversely related

Question 14

what are common issues associated with FAS?

Answer 14

global develop delay
growth deficiency
heart defects
dysmorphic faces

Question 15

what are characteristics of dysmorphic face in FAS?

Answer 15

small upper lip
loss of philthrum
low nasal bridge
short nose

Question 16

what are the preventable intrauterine infections to worry about?

Answer 16

TOxoplasmosis
Rubella
Cytomegalovirus
Herpes/HIV
Syphilis

Question 17

what is definition of developmental regression?

Answer 17

child achieving milestones then begins to lose the milestones

Question 18

what three things should be performed clinically when developmental regression is noted?

Answer 18

MRI
EEG
genetic and metabolic blood tests

Question 19

who does Retts syndrome affect?

Answer 19

females only

Question 20

what are four characteristics of Retts syndrome?

Answer 20

development regression
seizures
repitive hand movement
growth failure

Question 21

what causes Rett syndrome?

Answer 21

MECP2 gene mutation on X chromosome

Question 22

what are two lysosomal storage disorders that lead to developmental regression?

Answer 22

Tay Sachs

Niemann Pick

Question 23

what is associated with both tay sachs and Niemann pick lysosomal storage disorders?

Answer 23

cherry red retina spots

Question 24

what happens in Tay Sachs disease?

Answer 24

relentless decline in ability leading to death

NO HEPATOSPLENOMEGALY

Question 25

how do you differentiate between Tay Sachs and Niemann Pick

Answer 25

Niemann Pick has hepatosplenomegaly and Tay sachs does not

Question 26

what happens in Niemann Pick disorder?

Answer 26

relentless decline with loss or hearing and vision leading to death

they have hepatosplenomegaly

Question 27

what is Hurlers syndrome an issue with?

Answer 27

lysosomal storage due to inability to degrade glycosaminoglycan

Question 28

what is the deficiency of in Hurlers syndrome?

Answer 28

alpha-L-iduronidase

Question 29

what does the inability to degrade glycosaminoglycans lead to? where does this occur?

Answer 29

accumulation of it…accumulates in organs like liver, spleen heart bones

Question 30

how do you treat Hurlers syndrome?

Answer 30

Bone marrow transplant

Question 31

what are symptoms of hurlers syndrome?

Answer 31

facila dysmorphism 
corneal clouding
hepatosplenomegaly
ID
hearing loss
valvular heart disease