Lecture 13 Genetics, Dev, & Psychiatric Disorders Flashcards
What are genes?
the individual units of DNA, the building blocks of life
When mutations or mistakes occur in ____ or ____, they can cause genetic disorders
genes, chromosomes
Hereditary or ____ mutations can be passed on from generation to generation.
germline
Inherited disorders involve genetic ____.
transmission
Chromosomal disorders involve defective ____ of genetic material.
formation
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?
requires only the gene from one parent
Autosomal RECESSIVE transmission requires [WHAT] for the disorder to occur in the offspring?
requires the combination of two genes, one from each parent
X-linked transmission refers to any disorder affecting ____ ____ ____ and hence presumably transmitted by a gene located on the ____ chromosomes.
one sex only, sex
What are five types of processes that cause chromosomal disorders?
trisomy, translocation, deletion, duplication, non-dysjunction
Down syndrome results from what?
trisomy
What is trisomy?
when three chromosomes of a particular type are present instead of two (e.g., down syndrome)
What does TRANSLOCATION refer to?
mismatched chromosome pairs or portions of a chromosome in the fertilized ovum
What does DELETION refer to?
structural abnormalities involving partial or complete deletion of a part of the chromosome
What does DUPLICATION refer to?
if a fragment joins the homologous chromosome then that region is repeated (e.g., Fragile X)
Fragile X results from what?
duplication
What does NON-DYSJUNCTION refer to?
the failure of chromosome pairs to separate properly during meisosis
What are three examples of chromosomal disorders that result from non-dysjunction?
Klinefelter syndrome (XXY), XYY disorder, and Turner syndrome
Describe a person with Klinefelter syndrome (47, XXY).
male sex organs, unusually small testes, sterile, enlarged breast, other feminine body characteristics, normal intelligence
Describe a person with 47, XYY.
taller than average, below normal intelligence, thought to be criminally aggressive at one time but this hypothesis has been DISPROVEN over time
Is a person with Turner syndrome (45, X0) genetically male or female?
female
What is phenylketonuria (PKU)?
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
Describe a person with PKU.
severe mental retardation, unresponsive to environment, seizures, spastic hyperactive reflexes, shorter than average, smaller head than average, light hair eyes and skin (variable)
Describe a person with Turner syndrome (45, X0).
typical physical appearance w/ short stature, verbal better than performance, emotionally immature, do not mature sexually and are sterile
Is a person with Fragile X genetically male or female?
can be either male or female (more affected in males)
What are the two most common etiologies of mental retardation?
Down syndrome, Fragile X syndrome
What is the difference btwn a developmental disorder and a learning disability?
developmental disorder is caused by abnormal brain development vs. learning disability is an umbrella term to describe school-related problems
Are learning disabilities acquired or developmental?
can be either acquired or developmental
Name three specific learning disabilities found in the DSM-IV.
reading disorder, math disability, writing disorder
What are three basic requirements for reading?
attention, vision, working memory
What occurs first in development, phonological or lexical reading?
phonological
What is the process of phonological reading?
visually form letters into sounds, combine sounds into words, compare against stored info
What are three causes of reading difficulties?
phonological awareness (trouble distinguishing sounds), attention shifting, and sensory deficiency (need more time to discriminate btwn tones)
What is dyslexia?
a developmental disability in learning to read and spell that does not result from mental retardation, aphasia, motivational issues, psychological disorder, or cultural deprivation.
Language impairment has been linked to poor ____ detection.
sensory
A core factor in reading disabilities may be poor ____.
attention
What does the ACID profile for reading disabilities stand for?
(low scores on) Arithmetic, Coding, Information, Digit Span
