107 Cards in this Set
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Etiology (1)
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Cause of disorder. (2=pathology)
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Pathology (2)
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Disease.
(3=impairment)
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Impairment (3)
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Difference in behavior function - wearing glasses (does not affect living life).
(4=Disability)
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Disability (4)
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Permanent & serious enough -> difference in behavior cause problems in life.
(5=handicap)
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Handicap (5)
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Long term damage.
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Disability
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Heredity + environment + organ system + time of development
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Heredity
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Genetic background
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Onset - developmental disabilities.
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Must originate early life (~3 years of age) or before 21 years of age for injury.
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Severity - developmental disabilities
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Must be severe enough to interfere with long term "normal" function = independence (Self-care, self-direction, independent living, mobility, Finances), social communication & learning.
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Permanence - developmental disabilities
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Must persist throughout life.
Ex: epilepsy, ADHD(sometimes can be out grown or go away)
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Developmental health
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Determined by genetic factors - environment.
Affects conception, gestation, birth process, neonate.
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Positive effects of developmental health.
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-Healthy genes.
-Good perinatal health.
-Safe pregnancy/ living environment.
-Clean living environment .
-Healthy maternal diet.
-Support system, physician.
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Negative effects of developmental health.
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-Congenital factors = rubella.
-postnatal infections= bacterial meningitis.
-physical trauma = brain damage.
-toxic factors = alcohol, drugs etc.
-maternal nutrition=folic acid.
-psychosocial factors =SES.
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Human gestation
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38-42 weeks
Size & weight determined by parents genes
Average weight=6,2oz - 9,2oz.
Average length=19-21in
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Miscarriage
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Pregnancy ends before week 20.
Ex: ectopic pregnancy
Chromosomal abnormality/ genetic defect
Uterine/ cervical issues
Health issues
Live births -> 2-3% developmentally disabled.
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Ectopic pregnancy
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Pregnancy in the Fallopian tube
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Preterm birth
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Pregnancy ends After 20 weeks.
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Genotype
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Genetic code inherited from parents
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Phenotype
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Observable physical characteristics
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Chromosome
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22 matched pairs & sex chromosomes (23rd chromosome)
23 from mom
23 from dad
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Autosomes
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First 22 chromosomes
23rd is sex chromosome.
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DNA
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Genes/ gene expression.
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Genetics
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Instructions on how to make proteins.
Chromosomes contain genes --> Genes are made up of DNA --> DNA is made up of nucleotides
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Nucleotides (4)
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AUGC - 20 amino acids
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Alleles
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Different versions of the same gene.
Dominant - brown
Recessive - colored
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Meiosis
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Replication of sex cells.
*crossing over = swapping of equivalent genes.
23rd sex cell duplicates, - all chromosomes, --> crossover, - like alleles switch, --> duplicates duplicate, - 4 new cells & each cell has 23 chromosomes.
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Mutations
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Alterations of genes resulting in a new allele.
Natural accidents of nature.
Ex: cat with no tail.
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Single nucleotide polymorphism (SNPs)
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Alterations of specific pieces of a gene.
Codon (3 nucleotides in a strand of DNA)
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Humans share many genes
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25,000 genes = 8 million genotypes
8 million M & F genotypes = 64 trillion different phenotypes.
***reason why everyone looks different & how some people randomly look alike sometimes.
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Genetic inheritance in phenotype
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*physical features = blood type, skin, eye, hair color, facial features
*behavior = temperament, personality etc
*cognitive abilities = intelligence
Nature vs nurture.
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Conception
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--> Fallopian tubes
*ovum (23 chromosomes from mom)
*sperm (23 chromosomes from dad)
** zygote moves to the uterus for gestation @ 38- 42 weeks/ 3rd trimester.
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Gestation - Developmental time periods (critical time periods)
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Germinal stage
Embryonic stage
Fetal stage
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Germinal period (gestation)
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(About 2 weeks)
Begins: conception
Ends: uterine implantation
Cell division begins (mitosis) after 24-36 hrs.
Cell differentiation --> blastocyst.
~outer cells = placenta, amniotic sac/ fluid
~inner cells = stem cells (embryo).
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Embryonic period (gestation)
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(About 6 weeks)
Begins: uterine implantation
Ends: completion of cell differentiation
Completion of supporting systems --> placenta (filtering system) & amniotic fluid (protection)
Differentiation of body systems:
~3 cell layers form (mesoderm/ ectoderm)
~development of per…
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Fetal period (gestation)
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(About 30-40 weeks)
Begins: after organ differentiation, bone develops
Ends: birth.
Refinement of developing systems, limbs
Growth in functional abilities --> physiological connections, veins, muscles, brain
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Gestation process.
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*12 weeks --> genitals, fingers toes
*16 weeks --> quickening
*24 weeks --> breathing crying (systems are not mature enough for survival [surfactin])
*28 weeks --> system refinement
*remaining weeks--> weight/ length gain (0.5lbs per week)
As gestation progresses, insults becom…
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High risk pregnancy
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Women 35 years and older
@ right for down syndrome, general health, chromosomal problems, eggs are 35 also so theres a higher risk of problems.
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Genetic assesment
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Ethnic Bg
~black- tested for sickle cell
~White- tested for cystic fibrosis
~Jewish- taysax
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First trimester
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Ultrasound, maternal serum, genetic
*Early ultrasound(11-14 gestational weeks)- fetal viability, #of babies. Placental position, gestation dating. Nuchal translucency --> CHD, DOs, death.
*Maternal serum screening(10-14GW)- free beta human chorionic gonadotropin (HCG hormone releas…
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Second Trimester
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Ultrasound, MMS, MRI, Fetal ECG, aminocentesis
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Ultrasound
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(18-20GW) - second trimester
-Structural abnormalities (60%)
-Neural Tube, skeletal, renal, heart defects
-hydrocephalus, anencephaly
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aminocentesis
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(15-18GW) - second trimester
biopsy through amnionic sac, 1-20z of fluid
-risk of muscular deformities (clubfoot), fluid leakage
-good for alpha-fetoprotien(AFP)
-transabdominal
*can tell the sex for sure at 20 weeks
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Magnetic resonance imaging (MRI)
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(17+ GW) - Second trimester
-no risk, long term effects unknown
-brain abnormalities --> hydrocephalus
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Fetal echocardiography (ECG)
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(18-22 GW) - second trimester
-Congenital heart disease
-associated with: genetic hx, maternal lupus, down syndrome, nuchal transluency
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Pros of Natural Birth
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-Shorter stay at the hospital (24-48 hours)
-less lung problems in infant -> fluid in lung = pulmonary hypertension
-Less likely to have asthma, food allergies, lactose issues, postpartum pain
-breastfeed quicker, more effective
-faster bonding
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Cons of Natural Birth
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Anxiety, emotional.
-complications --> mom, baby
-Physical --> tears, bleeding
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Oxytocin
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Bonding hormone. Bonding with each other. skin to skin contact (20mins) stimulate. Helps uterus contract.
Bonding releases oxytocin
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Prolactin
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Lactation right before birth and after
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Pro-gestation
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keeps you pregnant - in birth control pills.
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Relaxin
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loose hip right before birth
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Pros (planned) C- Section
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Convenient
Control -> date nursery, clothes, etc
-Lower risk: hemorrhage, injury, STD infection
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Cons (Planned) C-Section
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Major surgery- complications, anesthesia, blood loss
Increased risk- heart attacks, blood clots, infection, hysterectomy, pain, later placental problems
Baby increased risk- lung infection/ issues, ADHD, learning disability.
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Potocin
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artificial oxytocin to induce labor.
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Postpartum Depression (vs Baby Blues)
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(10-15%) --> 3 months after birth
-Emotional/ Cognitive --> changes in body, relationships, less time, freedom, anxiety about parenting
*Baby Blues
-Biological --> family risk for mood disorders, hormonal changes, food issues-general health, lack of sleep
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Hormone surge
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Very important because with planned C section may not be that accurate with hormone surge meaning baby will have a harder time - baby may not agree with timing.
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APGAR Scale ---> 0-10
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-Appearance
-Pulse
-Grimance
-Activity
-Respiration
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Physical Development
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Rapid weight gain in 1st year
-8-10 months --> fat - double in weight
Adolescence --> second growth spurt around age 11
-head/ brain growth nearly complete
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Sensory abilities
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Taste, smell
-evident in newborns
-well-developed by 1year of age
Hearing
-newborns react to startling, soothing sounds
Vision
-develops with brain
-3-4 months --> brightness, focus, primary colors
-9 months --> see small objects
-1 year --> track objects
*sensory expe…
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Motor Control
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Gross/ fine motor control --> emerges by year 2
-Crawling, walking, grasping, etc...
-Coordination of movements, explore environment
Years 2-6 --> play years
-Basic motor, perceptual, social, emotional skills
-enhance strength
Years 6-12 --> additional physical growth, coord…
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Cognition
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Attention, perception, language, memory, thinking, etc.
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Language
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Newborns
-head orientation to mother's voice
-vocalizations
3 months --> cooing
6 months --> babbling
1 year --> single words
12-18 months --> true words
-imitations
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Late childhood
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Growth into abstraction --> encouraged by reading/writing
Selective attention --> complex stimuli, Problem- solving
meta-cognition --> thinking about thinking (task difficulty, problem solving) deductive reasoning, theory building, critical thinking, deductive/inductive reasoning
…
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Emotions
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4-7 months --> distress, sadness, smiles, laughter
8-15 months --> stranger distress, separation anxiety
school years --> social needs, sexual identity, peer groups
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Socialization
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-learning values, behaviors of a culture
-learning healthy social interactions with peers, authority figures
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Normal postnatal development
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physical
cognitive
emotional
social
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Birth defects
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congenital abnormalities/ malformation
-psychical
-functional
-metabolic
-behavioral
-hereditary
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genotype
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codes for phenotype
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polygenic determinism
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involvement of several genes in a phenotypic trait
many genes to determine
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multifactorial transmission
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interaction of genes with the environment
a lot of factors go into a particular trait
[heredity x environment] x organ system x time of development = disability
obesity, alcoholism --> asian flush
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additive
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different levels of influence
-height, skin color
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non-additive
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dominant vs recessive
-dominant: asthma
-recessive: blood type
Gene-chromosome interaction (X-linked abnormalities)
-hemophilia
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alterations in genetic code
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mutations
Spontaneous --> cell replication
Induced --> mutagens
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Alzheimer's disease
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chromosome 1,14, 21 --> early onset AD
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Breast cancer
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several genetic mutations --> BRCA 1, BRCA 2
-cell growth, division
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Huntington's disease
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Chromosome 4 --> CAG repeats up to 26x
-HD--> 40-100 CAG repeats
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Phenylketonuria (PKU)
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*Cause: causes mutation of chromosome 12 - PAH gene
-phenylalanine --> cannot be metabolized into l-tyrosine
-no tyrosine = no DA
-Toxic buildup of protein
*Symptoms: Intellectual issues, lack of motor coordination, emotional issues, seizures
*Tx: special diet - no cure
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tay-sachs disease
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*Cause: Single mutation on chromosome 15
Hex-A enzyme --> breaks down lipids
-toxic buildup of fat in brain
*Symptoms: Loss of motor abilities, self, blind, death at 4-8
*Tx: Non-treatable
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Sickle cell anemia
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*Cause: SNP on chromosome 11
-crescent-shaped, rigid, fragile
*Symptoms: anemia, jaundice, abdominal/joint pain, renal/heart failure
*tx: normalization
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Cystic Fibrosis
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*cause: mutation on chromosome 7
*symptoms: progressive disease --> wide range
-lungs
-pancreas
-sweat glands
tx: no cure
-diet
-stressful
-interferes with other types of development
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Cretinism/hypothyroidism
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*cause: mutation in TSH gene - thyroxin (regulates metabolism, growth, body temp, hormones)
-absent/reduced thyroid gland (altered hormone secretion)
*symptoms: intellectual disability, short stature, stunted growth, poor skin, muscle tone, progressive damage
Tx: give thyroxin to …
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Blindness
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Retinitis pigmentosa --> tunnel vision
-35 different genes --> rhodopsin
-dominant and recessive
Macular degeneration --> mutated genes --> ATP
Diabetic retinopathy (type II) -- congenital blindness -- high blood sugar
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deafness
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varied degrees of deafness
-25 genes --> mitochondrial DNA
-Synapse formation, stapes fixation
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chromosomal abnormalities
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affect organization/structure of whole/ part chromosome
-caused by mutations --> many genes (autosomes/ sex chromosome)
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Deletion
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loss of DNA segment - due to breaks (too much genetic material is just as bad as not enough)
-heat
-radiation
-toxic substances
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Duplication
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doubling of a DNA segment
Small or large
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Inversion
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180 rotation of DNA
-removal
-re-entry
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Translocation
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Change of position of DNA
-same chromosome
-different chromosome
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Cat's Cry Syndrome
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*Cause: Chromosome 5 --> short arm deletion
*symptoms: Cat-like meowing
-microcephalic (small brain), low birth weight
-severe intellectual abilities (cognitive, speech motor)
-Physical deformities (poor eye control, asymmetric faces, short stature)
-Behavioral problems
-Attentio…
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Prader-Willi Syndrome
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*Cause: Chromosome 15 --> long arm deletion
-live into adulthood - require long term care.
two distinct phases:
-prenatal=2 years --> low fetal activity, underdeveloped sex organs, excessive sleeping, poor feeding, emotionally unstable, intellectual disabilities.
-(2-5 years) …
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Aneuploidy
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Change in chromosome number (too much or too little)
-loss/addition during mitosis/meiosis
-Nullisomy --> loss of homologous chromosomes
-monosomy--> loss of a single chromosome pair
-trisomy--> addition of a single chromosome to get a pair
-tetrasomomy -->addition of a chrom…
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Causes of aneuploidy
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*****Nondisjunction - chromosomes fail to separate during meiosis
Translocation - transfer of DNA segments
Mosaicism - errors in mitosis
-some cells have it, others do not
-severity dependent on number with errors
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down's syndrome
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Cause: Trisomy (addition of a single chromosome to get a pair) in chromosome 21
Symptoms: intellectual disabilities, short stature, stalky, enlarged head, "simian crease", visual impairments, poor muscle tone, congenital disease.
Tx: Normalization
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Biopotential gonads - sexual differentiation
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wolffian ducts --> Male
Mullerian --> Female
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Male - sexual differentiation
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Wolffian system develops testosterone
Mullerian system dies (MIH)
*TDF activates female system by testosterone
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Female - sexual differentiation
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wolffian system dies --> b/c no testosterone
Mullerian system develops
*TDF activates female system by MIH
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Aromatase
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enzyme that takes testosterone and turns it into estrogen
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DHT
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testosterone turns into DHT when then develops into testicles etc
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Klinefelter syndrome
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*Cause - XYX - extra x chromosome
Symptoms: reduced sperm/ sterility, long, slim limbs, gynecomastia (man boobs), low intelligence, behavior problems
tx: testosterone
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Turner syndrome
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XO - lack of or damage to the second X chromosome
-not identified until puberty
Symptoms: sterility, slow growth rate, amenorrhea, learning problems, social immaturity
Tx: growth hormone =/- androgens
estrogen replacement therapy (ERT)
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Fragile X Syndrome
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Cause: Single codon repeat on X
Symptoms: Cognitive issues (reasoning, abstract thinking, language problems) & emotional problems (Aggression and hyperactivity)
-more severe in males because no backup X chromosome
Tx: normalization
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Congenital Adrenal Hyperplasia
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Cause: Excessive exposure to androgens - extra development of testosterone
-genetic (21-hydrogens --> enzyme)
-environmental (medroxyprogestrone acetate [MPA])
Symptoms: normal ovaries
masculinization of external genitalia
tx: corrective surgery, androgen suppression
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5a-reductase deficiency - XY
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Cause: Ambiguous genitalia, sexed as F
Symptoms: raised as girls - goes through puberty turns into boy
tx: Gender assignment -> social issues
HTR - hormone replacement
*usually live as boys because hormones kick in - biological pull is so strong
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Androgen Insensitivity syndrome (AIS)
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Cause: XY - lack of androgen/ testosterone receptors
SRY--> testosterone but lack of receptors = lack of wolffian development
MIH--> no mullerian development
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malformation of rural tube
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2-4th week of pregnancy
causes: poor nutrition, excessive body heat, maternal diabetes, chemicals
leads to anencephaly --> lack of a brain (50% survive birth - no perception, no language, no thinking)
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spina bifida
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Cause: caudal neural tube fails to close
- vertebrae do not fuse (no feeling from that point on)
Symptoms: motor disability below insult
internal organ damage
Meingocele--> CSF filled sac
Myelomingocele - protrusion of spinal cord
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hydrocephaly
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cause: fluid in/ around the brain
-failed drainage of CSF
symptoms Severe intellectual disability
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Microcephaly
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brain fails to develop
intellectual disabilities - speech function (cognitive)
hyperactivity
*Genetic, FAS, Maternal diabetes, rubella
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PSYC 324: TEST 3