Childhood psych

Question 1

Tuberous sclerosis presentation

Answer 1

HAMARTOMAS

Hamartomas in CNS and skin

Angiofibromas

Mitral regurg

Ash-leaf spots

Cardiac rhabdomyoma

Tuberous sclerosis

Autosomal dOminant

Mental retardation

renal Angiomyolipoma

Seizures/shagreen patches/SEGAs

Question 2

Williams syndrome

Answer 2

Elf faces, intellectual disability, hypercalcemia, extreme friendliness w/ strangers, cardiovascular issues

Question 3

Prader Willi syndrome presentation

Answer 3

Overeating/ obesity

intellectual disability

hypogonadism

hypotonia

Question 4

Angelman syndrome presentation

Answer 4

Inappropriate laughter

Seizures/ataxia

Severe intellectual disability

Question 5

Presentation of fetal alcohol syndrome

Answer 5

Developmental retardation

Microcephaly

Facial abnormalities (smooth philtrum, thin vermillion border, small palpebral fissures)

Limb dislocation

Heart defects

Question 6

Asperger syndrome

Answer 6

Smart

Trouble w/ social skills

obssessive focus on one topic/ performs same behaviors repeatedly

Question 7

Presentation of Rett syndrome

Answer 7

XL- seen exclusively in girls

Regression- loss of development, loss of verbal abilities, intellectual disability, ataxia, sterotyped hand-wringing

Question 8

Phenylketonuria presentation

Answer 8

Mental/ growht retardation, seizures, eczema, musty body odor

Question 9

CHARGE syndrome

Answer 9

Coloboma of eye (key hole defect)

Heart defects

Atresia of nasal choanae

Retardation of growth/development

Genital/urinary abnormalities

Ear abnormalities/ deafness

Question 10

DiGeorge Syndrome

Answer 10

CATCH-22

Cardiac abnormlaities

Abnormal facies

Thymic absence/ T cell abnormality

Cleft palate

Hypocalcemia

Chr 22

Question 11

Expressive language disorder

Answer 11

Child has lower than normal ability in vocabulary, saying complex sentences, and remembering words. However, a child with this disorder may have the normal language skills needed to understand verbal or written communication