Lecture 13 Genetics, Dev, & Psychiatric Disorders

Question 1

What are genes?

Answer 1

the individual units of DNA, the building blocks of life

Question 2

When mutations or mistakes occur in ____ or ____, they can cause genetic disorders

Answer 2

genes, chromosomes

Question 3

Hereditary or ____ mutations can be passed on from generation to generation.

Answer 3

germline

Question 4

Inherited disorders involve genetic ____.

Answer 4

transmission

Question 5

Chromosomal disorders involve defective ____ of genetic material.

Answer 5

formation

Question 6

Autosomal DOMINANT transmission refers to any transmission via chromosomes other than the sex chromosomes that requires [WHAT] for the disorder to occur in the offspring?

Answer 6

requires only the gene from one parent

Question 7

Autosomal RECESSIVE transmission requires [WHAT] for the disorder to occur in the offspring?

Answer 7

requires the combination of two genes, one from each parent

Question 8

X-linked transmission refers to any disorder affecting ____ ____ ____ and hence presumably transmitted by a gene located on the ____ chromosomes.

Answer 8

one sex only, sex

Question 9

What are five types of processes that cause chromosomal disorders?

Answer 9

trisomy, translocation, deletion, duplication, non-dysjunction

Question 10

Down syndrome results from what?

Answer 10

trisomy

Question 11

What is trisomy?

Answer 11

when three chromosomes of a particular type are present instead of two (e.g., down syndrome)

Question 12

What does TRANSLOCATION refer to?

Answer 12

mismatched chromosome pairs or portions of a chromosome in the fertilized ovum

Question 13

What does DELETION refer to?

Answer 13

structural abnormalities involving partial or complete deletion of a part of the chromosome

Question 14

What does DUPLICATION refer to?

Answer 14

if a fragment joins the homologous chromosome then that region is repeated (e.g., Fragile X)

Question 15

Fragile X results from what?

Answer 15

duplication

Question 16

What does NON-DYSJUNCTION refer to?

Answer 16

the failure of chromosome pairs to separate properly during meisosis

Question 17

What are three examples of chromosomal disorders that result from non-dysjunction?

Answer 17

Klinefelter syndrome (XXY), XYY disorder, and Turner syndrome

Question 18

Describe a person with Klinefelter syndrome (47, XXY).

Answer 18

male sex organs, unusually small testes, sterile, enlarged breast, other feminine body characteristics, normal intelligence

Question 19

Describe a person with 47, XYY.

Answer 19

taller than average, below normal intelligence, thought to be criminally aggressive at one time but this hypothesis has been DISPROVEN over time

Question 20

Is a person with Turner syndrome (45, X0) genetically male or female?

Answer 20

female

Question 21

What is phenylketonuria (PKU)?

Answer 21

a disorder of amino-acid metabolism, a baby is born w/o ability to break down an amino acid called phenylalanine w/ autosomal RECESSIVE mode of transmission

Question 22

Describe a person with PKU.

Answer 22

severe mental retardation, unresponsive to environment, seizures, spastic hyperactive reflexes, shorter than average, smaller head than average, light hair eyes and skin (variable)

Question 23

Describe a person with Turner syndrome (45, X0).

Answer 23

typical physical appearance w/ short stature, verbal better than performance, emotionally immature, do not mature sexually and are sterile

Question 24

Is a person with Fragile X genetically male or female?

Answer 24

can be either male or female (more affected in males)

Question 25

What are the two most common etiologies of mental retardation?

Answer 25

Down syndrome, Fragile X syndrome

Question 26

What is the difference btwn a developmental disorder and a learning disability?

Answer 26

developmental disorder is caused by abnormal brain development vs. learning disability is an umbrella term to describe school-related problems

Question 27

Are learning disabilities acquired or developmental?

Answer 27

can be either acquired or developmental

Question 28

Name three specific learning disabilities found in the DSM-IV.

Answer 28

reading disorder, math disability, writing disorder

Question 29

What are three basic requirements for reading?

Answer 29

attention, vision, working memory

Question 30

What occurs first in development, phonological or lexical reading?

Answer 30

phonological

Question 31

What is the process of phonological reading?

Answer 31

visually form letters into sounds, combine sounds into words, compare against stored info

Question 32

What are three causes of reading difficulties?

Answer 32

phonological awareness (trouble distinguishing sounds), attention shifting, and sensory deficiency (need more time to discriminate btwn tones)

Question 33

What is dyslexia?

Answer 33

a developmental disability in learning to read and spell that does not result from mental retardation, aphasia, motivational issues, psychological disorder, or cultural deprivation.

Question 34

Language impairment has been linked to poor ____ detection.

Answer 34

sensory

Question 35

A core factor in reading disabilities may be poor ____.

Answer 35

attention

Question 36

What does the ACID profile for reading disabilities stand for?

Answer 36

(low scores on) Arithmetic, Coding, Information, Digit Span