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Psychoanalytic Theory
Instincts (life/death instincts)
Unconscious motivations
Id, ego, superego
Oral Stage
0-1.5 years
Erogenous Zone in focus:
mouth
both insufficient and forceful feeding can result in fixation
Symptoms of oral fixation
Smoking
Constant chewing on gum, pens, pencils, etc.
Nail biting
Overeating
Drinking
Sarcasm ("the biting personality") and verbal hostility
Anal Stage
1.5-3 years old
Erogenous Zone in Focus: Anus
Anal-Expulsive Personality:
If the parents are too lenient and fail to instill the society's rules about bowel movement control, the child will derive pleasure and success from the expulsion.
Individuals with a fixation on this mode of gratification are excessively sloppy, disorganized, reckless, careless, and defiant.
Anal-Retentive Personality:
If a child receives excessive pressure and punishment from parents during toilet training, child experiences anxiety over bowl movements and takes pleasure in being able to withhold such functions.
Individuals who fail to progress pass this stage are obsessively clean and orderly, and intolerant of those who aren't. They may also be very careful, stingy, withholding, obstinate, meticulous, conforming and passive-aggressive
Phallic Stage
4-5 years old
Erogenous Zone in Focus: Genital
Gratifying Activities: Masturbation and genital fondling
Interaction with the Environment:
This is probably the most challenging stage in a person's psychosexual development.
The key event at this stage, according to Freud, is the child's feeling of attraction toward the parent of the opposite sex, together with envy and fear of the same-sex parent,
Fixation:
Men: Anxiety and guilty feelings about sex, fear of castration, and narcissistic personality.
Women: It is implied that women never progress past this stage fully and maintain a sense of envy and inferiority, although Freud asserted no certainty regarding women's possible fixations resulting from this stage.
•Similarly, Freud admitted uncertainty on the females' situation when he constructed the "penis envy" theory in the first place.
Oedipus Complex
Boys being attracted to mother and viewed their father as competition during the phallic stage
Electra complex
Girls being attracted to father and viewed their mother as competition during phallic stage
Latency Stage
5-6 years
Erogenous Zone in Focus: None
Interactions with the Environment:
This is a period during which sexual feelings are suppressed to allow children to focus their energy on other aspects of life.
This is a time of learning, adjusting to the social environment outside of home, absorbing the culture, forming beliefs and values, developing same-sex friendships, engaging in sports, etc.
This period of sexual latency lasts five to six years, until puberty, upon which children become capable of reproduction, and their sexuality is re-awakened.
Genital Stage
Puberty and older
Erogenous Zone in Focus: Genital
Gratifying Activities: Masturbation and heterosexual relationships
Fixations
This stage does not cause any fixation.
According to Freud, if people experience difficulties at this stage, and many people do, the damage was done in earlier oral, anal, and phallic stages.
These people come into this last stage of development with fixations from earlier stages.
Ego Defense Mechanisms
Denial
Displacement
Intellectualization
Projection
Rationalization
Reaction formation
Regression
Repression
Sublimation
Suppression
Erickson’s 8 Psychosocial Stages
Trust vs. Mistrust
Independence (autonomy) vs. Shame (doubt)
Initiative vs. Guilt
Competence vs. Inferiority
Identity vs. Role Confusion
Intimacy vs. Isolation
Generativity vs. Stagnation
Integrity vs. Despair
Trust vs. Mistrust
0-1 year old
In the first year of life, infants depend on others for food, warmth, and affection, and therefore must be able to blindly trust the parents (or caregivers) for providing those.
Positive outcome:
If their needs are met consistently and responsively by the parents, infants not only will develop a secure attachment with the parents but will learn to trust their environment in general as well.
Negative outcome:
If not, infant will develop mistrust towards people and things in their environment, even towards themselves.
Independence vs. Shame
AKA autonomy vs. doubt
1-2 years old
Toddlers learn to walk, talk, use toilets, and do things for themselves.
Their self-control and self-confidence begin to develop at this stage.
Positive outcome:
If parents encourage their child's use of initiative and reassure her when she makes mistakes, the child will develop the confidence needed to cope with future situations that require choice, control, and independence.
Negative outcome:
If parents are overprotective, or disapproving of the child's acts of independence, she may begin to feel ashamed of her behavior, or have too much doubt of her abilities.
Initiative vs. Guilt
2-6 years old
Children have newfound power at this stage as they have developed motor skills and become more and more engaged in social interaction with people around them.
They now must learn to achieve a balance between eagerness for more adventure and more responsibility, and learning to control impulses and childish fantasies.
Positive outcome:
If parents are encouraging, but consistent in discipline, children will learn to accept without guilt, that certain things are not allowed, but at the same time will not feel shame when using their imagination and engaging in make-believe role plays.
Negative outcome
If not, children may develop a sense of guilt and may come to believe that it is wrong to be independent
Industry vs. Inferiority
AKA Competence vs. Inferiority
6-12 years old
School is the important event at this stage.
Children learn to make things, use tools, and acquire the skills to be a worker and a potential provider.
And they do all these while making the transition from the world of home into the world of peers.
Positive outcome:
If children can discover pleasure in intellectual stimulation, being productive, seeking success, they will develop a sense of competence.
Negative outcome:
If not, they will develop a sense of inferiority
Identity vs. Role Confusion
This is the time when we ask the question "Who am I?
Erikson suggests, the adolescent must integrate the healthy resolution of all earlier conflicts.
Did we develop the basic sense of trust?
Do we have a strong sense of independence, competence, and feel in control of our lives?
Adolescents who have successfully dealt with earlier conflicts are ready for the "Identity Crisis", which is considered by Erikson as the single most significant conflict a person must face.
Positive outcome:
If the adolescent solves this conflict successfully, he will come out of this stage with a strong identity, and ready toplan for the future.
Negative outcome:
If not, the adolescent will sink into confusion, unable to make decisions and choices, especially about vocation, sexual orientation, and his role in life in general.
Intimacy vs. Isolation
19-40 years old
Description: In this stage, the most important events are love relationships.
No matter how successful you are with your work, said Erikson, you are not developmentally complete until you are capable of intimacy.
An individual who has not developed a sense of identity usually will fear a committed relationship and may retreat into isolation.
Positive outcome:
Adult individuals can form close relationships and share with others if they have achieved a sense of identity.
Negative outcome:
If not, they will fear commitment, feel isolated and unable to depend on anybody in the world.
Generativity vs. Stagnation
40-65 years old
By "generativity" Erikson refers to the adult's ability to look outside oneself and care for others, through parenting, for instance.
Erikson suggested that adults need children as much as children need adults, and that this stage reflects the need to create a living legacy.
Positive outcome:
People can solve this crisis by having and nurturing children or helping the next generation in other ways.
Negative outcome:
If this crisis is not successfully resolved, the person will remain self-centered and experience stagnation later in life.
Integrity vs. Despair
65-death
Old age is a time for reflecting upon one's own life and its role in the big scheme of things, and seeing it filled with pleasure and satisfaction or disappointments
and failures.
Positive outcome:
If adult has achieved a sense of fulfillment about life and a sense of unity within himself and with others, there is acceptance of death with sense of integrity.
Just as the healthy child will not fear life, said Erikson, the healthy adult will not fear death.
Negative outcome:
If not, the individual will despair and fear death
Behavioral Theory
Watson
Behaviorism
Child = Tabular rosa
Unconditioned stimulus > response
UC > Conditioned stimulus > response
CS > response
Pairing UC to CS
Classical Conditioning
Ivan Pavlov, a Russian scientist trained in biology and medicine
Studying the digestive system of dogs
Dogs deprived of food began to salivate when one of his assistants walked into the room.
Established the laws of classical conditioning.
Conditioning process for dogs
UC stimulus (food) è UC response (salivation)
UC è (bell) è UC
Multiple pairings
Conditioned Stimulus (bell) è Conditioned response (salivation)
Respondent Conditioning
Skinner renamed this type of learning "respondent conditioning" since in this type of learning, one is responding to an environmental antecedent
stimulus = environmental event
response = action = behavior = overt behavior conditioning = learning
antecedent = a stimulus occurring "before" a response
reflexive = involuntary (e.g., involuntary responses cannot be consciously stopped once they start)
innate = inborn
elicits = causes (to bring forth)
Operant Conditioning
B.F. Skinner
(S--> R -->S)
Concept that responses cannot occur without an environmental event (e.g., an antecedent stimulus) preceding it.
Antecedent stimulus does not elicit or cause the response, it can influence it.
Antecedent influences the likelihood of a response occurring
Called a discriminative stimulus
Stimulus following a voluntary response (i.e., the response's consequence) changes the probability of whether the response is likely or unlikely to occur again
Consequences:
Positive (sometimes called pleasant) and
Negative (sometimes called aversive).
Added to or taken away from the environment changes probability of a given response reoccurring
Reinforcement Schedules
Continuous reinforcement (behavior is followed by a consequence each time it occurs)
Intermittent schedules
Interval schedules (based either on the passage of time)
Ratio schedules (based on number of correct responses emitted)
Fixed Schedule
based on the same amount of passage of time or the same number of correct responses
Variable Schedule
It could be based on a slightly different amount of time or number of correct responses that vary around a particular number )
Fixed-Ratio (FR)
First response made after a given number of responses have been in the presence of the discriminative stimulus is reinforced.
For example on an FR 10 schedule every 10th response is reinforced.
Used car dealer gets a $1000 bonus for each 10 cars sold on the lot.
Fixed-Interval (FI)
First response made after a given time interval is reinforced. For example, on an FI 20 sec. schedule the first response made after 20 seconds from the onset of the discriminative stimulus is reinforced.
The discriminative stimulus would normally then be turned off during the period the animal consumes its reinforcer.
Variable-Ratio (VR)
Similar to FR except that the number of responses required varies between reinforcements.
On a VR 15 schedule 15 responses are required per reinforcer on average, but one reinforcer may only require 3 responses while the next is obtained after 22 responses.
Variable-Interval (VI)
Similar to FI except the interval requirements vary between reinforcers around some specified average value.
Consequent or consequences
a stimulus occurring "after" a response that changes the probability the response will occur again
Response Cost
If positive reinforcement strengthens a response by adding a positive stimulus, then response cost has to weaken a behavior by subtracting a positive stimulus. After the response the positive reinforcer is removed which weakens the frequency of the response.
Extinction
No longer reinforcing a previously reinforced response (using either positive or negative reinforcement) results in the weakening of the frequency of the response
Social Learning Theory
Albert Bandura
Cognitive process
Increases or decreases likelihood of behavioral response
Observational learning
Modeling behavior of others
Reciprocal determinism
Interaction among people, person’s behavior, & environment
Observational learning
Model’s characteristics
Rewarded for behavior
May acquire behavior without performing
Observational Learning requires…
Attention
Must pay attention to what is occurring
Retention
Remember the behavior
Production
Be capable of reproducing behavior
Motivation
Have a reason to reproduce behavior
Adaptation
All living things adapt to environmental stimuli
Assimilation
Fitting new information into an existing schema or framework
Accommodation
Developing, changing, or revising schema because of new experiences
Equilibrium
State of homeostasis in which schemas explain the world
Piaget’s Cognitive Development Stages
Sensorimotor
Preoperational
Concrete operations
Formal operations
Sensorimotor
0-2 years old
Simple reflexive behavior gives way to ability to form schemas (beginnings of symbolic thought)
Six stages of development
Reflexive Stage (0-2 months)
Primary Circular Reactions (2-4 months)
Secondary Circular Reactions (4-8 months)
Coordination of Secondary Reactions (8-12 months)
Tertiary Circular Reactions (12-18 months)Invention of New Means Through Mental Combination (18-24 months)
Preoperational
2-7 years old
Use of symbolic thought & development of imagination
Applying new knowledge of language, the child begins to use symbols to represent objects
Oriented to the present, the child has difficulty conceptualizing time
Preoperational Phase (2-4 years)
Transductive reasoning thinking of something without the object being present by use of language
Intuitive Phase (4-7 years)
Speech becomes more social & child has intuitive grasp of logical concepts in some areas
Concrete Operations
7-11+
Capable of true logical thought about physical operations; able to perform operations – conserve, reverse, and consider all physical factors
Ability to think abstractly
Make rational judgments about concrete or observable phenomena
Conservation
Quantity remains same regardless of appearance changes
Preoperational child sees spatial differences as size differences
7 to 8 year old
Conservation of substance
9 to 10 year old
Conservation of area
Conservation of mass
Formal Operations
11-12+
Able to think hypothetically and abstractly
Generates abstract propositions, multiple hypotheses and their possible outcomes is evident
Thinking becomes less tied to concrete reality.
Formal logical systems can be acquired.
Can handle proportions, algebraic manipulation, other purely abstract processes
Prepositional logic, as-if and if-then steps
Vygotsky’s cultural theory
Development is process that begins at birth and continues until death
Zone of Proximal Development
Gap or difference between what the child can learn unaided and what he or she can learn with the help of an adult.
Egocentric speech
“Speech on its way inward“
Instead of fading away as Piaget believed, it went “underground” to become Inner speech: a form of language spoken to oneself that Vygotsky identified with the pure thought of adults
Egocentric speech partially social –
Child's primitive efforts to remain in contact with other people
Language & thought are of independent origins
Emphasized the existence of intellect occurring before or without speech
Speech
Non-egocentric utterances are social and communicative.
Egocentric utterances are individual and self-regulating. (occur when the child capable of organized reasoning)
similar to the act of counting on one's fingers - an external process that will eventually be internalized.
Vygotsky concluded that:
"Thought development is determined by language, i.e. by the linguistic tools of thought and by socio-cultural experience of the child."
Speech
Most significant moment in course of intellectual development, which gives birth to purely human forms of practical and abstract intelligence, two previously completely independent lines of development converge
Scaffolding
Children perform better & solve more difficult problems when they were guided and supported by another competent individual
Potential developmental level
Level of competence without guidance from another person
Ecological Systems Theory
Urie Bronfenbrenner (April 29, 1917 – September 25, 2005) was a Russian American psychologist, known for developing his Ecological Systems Theory, and as a co-founder of the Head Start program for disadvantaged pre-school children.
Developmental contextualism
Context
Reciprocal interactions
Physical setting
Social influences
Personal characteristics
Influence of time
Microsystem
Mesosystems
Exosystem
Macrosystems
Chronosystem
Microsystem
Direct interactions occur with social agents
Individual lives
Family
Neighborhood
Extended family
Peers
School
Mesosystem
Innerconnections with other microsystems
Family experiences to school experiences
School experiences to church experiences
Ecosystem
Experiences in extended settings where individual does not have active role
Friends of family
Mass media
Neighbors
Legal services
Macosystem
Culture you live in
Behavior patters
Belief systems
Generational group patterns
Chronosystem
Patterning of environmental events & transitions over life course
Socio-historical conditions
2008 women focus on career
Deoxyribonucleic Acid (DNA)
Composed of adenine (A), guanine (G), cytosine (C), and thymine (T)
Provides codes for the structural & enzymatic proteins that make up every cell
Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people
Mitochondrial DNA (mtDNA)
DNA found in mitochondria
Contains 37 genes, all of which are essential for normal mitochondrial function
Thirteen of these genes provide instructions for making enzymes involved in oxidative phosphorylation
The remaining genes provide instructions for making molecules called transfer RNAs (tRNAs) and ribosomal RNAs (rRNAs), which are chemical cousins of DNA.
These types of RNA help assemble protein building blocks (amino acids) into functioning proteins
Mitochondria
Structures within cells that convert the energy from food into a form that cells can use.
Chromosomes
In humans there are 46 chromosomes, or 23 pairs of chromosomes (diploid)
In every cell except the mature egg and sperm which have a set of 23 chromosomes (haploid)
Visible only during cell division
P Arm
Short arm of chromosome
Q Arm
Long arm of chromosome
Homozygous
When an organism has a pair of identical alleles for a character
Heterozygous
When an organism has two different alleles for a gene
Autosomal Dominant Inheritance
The gene carrying a mutation is located on one of the autosomes (chromosome pairs 1 through 22)
This means that males and females are equally likely to inherit the mutation.
"Dominant" means that having a mutation in just one of the two copies of a particular gene is all it takes for a person to have a trait
A person only needs one copy of a gene change in order to have the condition
Men and women are equally likely to have autosomal dominant conditions.
Autosomal Recessive
The gene carrying the mutation is located on one of the autosomes (chromosome pairs 1 through 22).
This means that males and females are equally affected.
One copy of the mutation is inherited from the mother, and one from the father.
A person who has only one recessive gene mutation is said to be a "carrier" for the trait or disease, but he/she does not have any health problems from carrying this one mutation.
Most people do not know they carry a recessive gene mutation for a disease until they have a child with the disease.
Once parents have had a child with a recessive disease, there is a one out of four, or 25 percent chance, with each subsequent pregnancy, for another child to be born with the same disorder.
This means that there is a three out of four, or 75 percent chance, for another child to not have the disease:
X Linked Inheritance
Caused by changes within genes located on the X chromosome
Since men only have one X chromosome, each man who inherits the gene change will have the condition.
Women have two X chromosomes; they inherit one from their mothers and one from their fathers. If a woman inherits a gene change on an X chromosome, she will be a carrier.
Mitochondrial Inheritance
Mitochondria are unique because they have their own type of genetic information, called mitochondrial DNA, as well as nuclear DNA.
Certain genetic conditions are caused by changes within the mitochondrial or nuclear DNA found in the mitochondria.
Mitochondria are also unique because, unlike our chromosomes, we inherit all of our mitochondria from our mothers.
Trisomy
Presence of three, instead of the normal two, chromosomes of a particular numbered type in an organism.
Thus the presence of an extra chromosome 21 is called trisomy 21.
Most trisomies, like most other abnormalities in chromosome number, result in distinctive birth defects.
Many trisomies result in miscarriage or death at an early age
Partial Trisomy
Occurs when part of an extra chromosome is attached to one of the other chromosomes.
Mosaic Trisomy
Condition where extra chromosomal material exists in only some of the organism's cells.
Trisomy 21
Downs Syndrome
Trisomy 18
Edward’s Syndrome
Trisomy 13
Patau Syndrome
Trisomy 8
Warkany Syndrome
Trisomy 12
Chronic Lymphocytic Leukemia
Trisomy involving sex chromosomes
XXX (Triple X syndrome)
XXY (Klinefelter's syndrome)
XYY (XYY syndrome)
Downs Syndrome
Trisomy 21
1866
47 chromosomes
Extra at 21
Maternal age
1 in 1,500 for under 30
1 in 750 for 30 to 35
1 in 300 35 to 39
1 in 80 for 40 to 45
1 in 40 for over 45
Most common chromosomal abnormality of live-births
Brushfieldspots (abnormality of color of eye)
Head
Round head with flat area at the back of the head (occiput)
Small skull (microcephaly smaller than normal)
Prominent facial features include a
flattened nose
protruding tongue
upward slanting eyes
hands short and broad with short fingers
often with single crease in the palm (simian crease).
retardation of normal growth
rarely reach average adult height.
Children may also have delayed mental and social development
Impulsive behavior
Poor judgment
Short attention span
Slow learning
Congenital heart defects frequent
Higher than average incidence of acute lymphocytic leukemia
Gastrointestinal abnormalities common
Esophageal atresia (obstruction of the esophagus)
Duodenal atresia (obstruction of the duodenum)
Complications
Blocked airways during sleep (one third of patients)
Increased incidence of dementia in older patients
Instability of the back bones at the top of the neck, compression injury of the spinal cord
Edward’s Syndrome
Trisomy 18
Low birth weight;
Small, abnormally shaped head;
Small jaw and mouth;
Clenched fists with overlapping fingers;
Heart defects;
Because of life-threatening medical problems, many infants with trisomy 18 die within their first month.
Five percent to 10 percent of children with this condition live past their first year.
Nervous system and brain –
Intellectual developmental disability and delayed development,
High muscle tone,
Seizures
Physical malformations such as brain defects
Extreme malformations of the head and face
small head
small eyes,
wide-set eyes,
small lower jaw
Heart defects
Bones
severe growth retardation,
clenched hands with 2nd and 5th fingers on top of the others,
other defects of the hands and feet
Malformations of the digestive tract, the urinary tract, and genitals
Patau Syndrome
Trisomy 13
Extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart defects
Severe mental deficiency is a consistent feature.
Holoprosencephaly
Disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres.
The result is a single-lobed brain structure and severe skull and facial defects.
1 case per 8,000-12,000 live births
Polydactyly
Flexion of the fingers
Rocker-bottom feet
Facial clefting
Neural tube defects
Severe neurological impairments
Severe heart defects
Median survival age for children with Patau syndrome is 2.5 days
Only one in 20 children surviving longer than 6 months.
However, some children survive into their teens and seem to fare better than might be expected based on reports from those who die in the perinatal period.
Klinefelter syndrome
1942
Approximately 1 of 1000 men
More than one X chromosome, usually two X chromosomes, 47, XXY
Testicles stay very small (only 2 cms. from pole to pole)
Few sperms are developed in the testicles
Usually infertile
Should be treated with testosterone, usually from the 11 or 12 years of age
Treatment should eliminate many symptoms
Possible associated symptoms without treatment
infertility
incomplete masculinization
feminine, or pear shaped, body and body hair distribution
decreased libido
osteoporosis
taurodontism
venous disease
learning, emotional, and mental disorders
autoimmune disorders such as lupus
low energy
low self esteem
communication difficulties, especially with expressive language
frustration-based outbursts
motor skill issues
developmental delays
Turner’s Syndrome
Rare condition
1 in 3,000 to 1 in 5,000 female infants
Inherit only one X chromosome (X0)
Symptoms
Abnormal growth patterns
Short in stature, averaging 4 foot 7 inches as adults
Distinctive webbed necks (i.e., extra folds of skin)
Small jaws
High arched palates
Lack prominent female secondary sexual characteristics
Exceptionally small, widely spaced breasts
Broad shield-shaped chests
Turned-out elbows
Ovaries do not develop normally
Do not ovulate
Kleefstra Syndrome
Caused by a deletion on chromosome 9
Dental anomalies are more common in children with this condition
Heart conditions are common
Developmental delays & learning disability are common
Facial stigmata
Developmental Delay
Intellectual disability
Limited Speech
Unusually Small Head Size
Widely Spaced Eyes
Nostrils that Open in the Front
Protruding Jaw
Often have high birth weight and often suffer from obesity throughout childhood
Cri Du Chat
Cry of the cat
Chromosome 5 Deletion Syndrome
Rare genetic disorder: partial deletion of chromosome 5
Dr. Jerome Lejeune in 1963.
Small head (microcephaly)
Unusually round face
Small chin
Widely set eyes
Folds of skin over their eyes
Small bridge of the nose.
The syndrome is named for the cat-like cry made by infants with this genetic disorder.
This unusual cry is caused by abnormal development of the larynx (organ in the throat responsible for voice production)
Small number of children have heart defects, muscular or skeletal problems, hearing or sight problems, or poor muscle tone
People usually have difficulty walking and talking
May have behavior problems (such as hyperactivity or aggression), and severe intellectual disability.
If no major organ defects or other critical medical conditions exist, life expectancy is normal.
Jacobsen Syndrome
Condition caused by a loss of genetic material from chromosome 11.
Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11
Also known as 11q terminal deletion disorder
Very rare, 1 in 100,000 newborns
Two times as many women have this syndrome as men.
This is a replication error occuring during cell division, rather than an inherited condition.
May influence central nervous system development
Symptoms
impaired intelligence, learning, speech, and motor skills
problems speaking, walking, standing, & sitting normally
compulsive behavior
short attention span
easily distracted
attention deficit hyperactivity disorder (ADHD).
Physical Stigmata
Wide-set eyes (hypertelorism)
Droopy eyelids (ptosis)
epicanthal folds
broad nasal bridge
V-shaped mouth
small lower jaw
small low-set ears, rotated backwards
Angelman’s Syndrome
Genetic imprinting (parental gene of origin) because it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15.
A neuro-genetic disorder that occurs in 1 in 15,000 live births
In 1965, it was found that children were having "flat heads, jerky movements, protruding tongues, and bouts of laughter."
An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing
Developmental delay, functionally severe
Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
Behavioral uniqueness:
any combination of frequent laughter/smiling;
apparent happy demeanor;
easily excitable personality,
often with hand flapping movements;
short attention span
Prader Willi Syndrome
Absence or lack of expression of seven genes in chromosome 15 on the paternal chromosome
Most common known genetic cause of life-threatening obesity in children
It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger.
The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS.
They overeat, leading to obesity.
Babies with this are usually floppy, with poor muscle tone, and have trouble sucking.
Boys may have undescended testicles.
Later, other signs appear
Short stature
Poor motor skills
Weight gain
Underdeveloped sex organs
Mild intellectual disability and learning disabilities
Neurofibromatosis
Disorder is caused by a mutation in a gene on chromosome 17 (N 1) or 22 (N 2).
Type 1, also called von Recklinghausen NF, is transmitted on chromosome 17 and is caused by mutation (or rarely, deletion) of the NF1 gene.
This type causes multiple areas of hyperpigmentation (i.e., birthmarks) that appear shortly after birth.
In late childhood, a few to thousands of tumors appear on the skin (called cutaneous lesions) and under the skin (called subcutaneous lesions).
These tumors may become cancerous.
Type 2 results from mutation (or rarely, deletion) of the NF2 gene and is transmitted on chromosome 22.
In this type, tumors form in the nervous system, usually within the skull (intracranial tumors) and spinal canal (intraspinal tumors)
Tumors on the eighth cranial nerve (vestibulocochlear nerve), which are sometimes referred to as acoustic neuromas, are most common.
This type causes hearing loss and loss of sense of balance (equilibrium), usually during the late teens or early 20s.
These tumors may become cancerous.
Cystic Fibrosis
Caused by a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator).
A disease of the mucus and sweat glands.
Affects lungs, pancreas, liver, intestines, sinuses and sex organs
No cure but treatments have improved greatly in recent years.
Protein forms a channel that controls the movement of salt and water into and out of cells
Mutations alter this protein blocking this channel
Cells that line the passageways of the lungs, pancreas, and other organs produce abnormally thick mucus
Recessive gene
Symptoms
Abnormally thick, sticky mucus creates lung problems & gastrointestinal problems
Mucus obstructs airways & causes bacterial infections in the lungs
Leads to chronic coughing, wheezing, and inflammation
Mucus buildup and infections lead to permanent lung damage
Formation of scar tissue (fibrosis)
Cysts in the lungs.
Digestive problems
Mucus block the ducts of the pancreas
Prevents enzymes organ from reaching the intestines to help digest food
Leads to
Diarrhea
Malnutrition
Weight loss
Some babies with this have meconium ileus, a blockage of the intestine that occurs shortly after birth
Hemophilia
Inherited X linked recessive disease that prevents the blood from clotting properly
Queen Victoria
Because it can be an X linked condition.
The result can be the birth of sons with hemophilia, daughters who are carriers, or children who are unaffected
A male with hemophilia automatically passes the gene to his daughters all of whom are carriers.
About one-third of individuals affected develop it through a spontaneous gene mutation
Deficiency of a blood protein“clotting factor" necessary to stop bleeding
Hemophilia A, "classic hemophilia,“ is a deficiency in clotting factor VIII
Hemophilia B is deficiency in coagulation factor IX, also called Christmas disease
Symptoms:
Prolonged (but not excessive) bleeding from minor cuts and abrasions
Spontaneous bleeding (bleeding that occurs apparently without cause)
Pain and swelling resulting from bleeding into joints and muscles
Bruising
Blood in the urine or stool
Prolonged bleeding following circumcision
Fabry Disease
Rare genetic disorder (X linked) of lipid metabolism characterized by deficiency of the enzyme alpha-galactosidase A, also ceramidetrihexosidase.
Lipid (fat) accumulates in various organs of the body, blood vessels, eyes, kidneys, autonomic nervous system, & cardiovascular system
Since the gene that is altered is carried on a mother’s X chromosome, her sons have a 50 percent chance of inheriting the disorder and her daughters have a 50 percent chance of being a carrier.
Some women who carry the genetic mutation may have symptoms of the disease.
Symptoms usually begin during childhood or adolescence
burning sensations in the hands that gets worse with exercise and hot weather and small,
raised reddish-purple blemishes on the skin.
Appearance of clusters of wart-like discolorations on the skin (angiokeratomas),
abdominal pain,
visual impairment
cloudiness of the cornea.
Later in the course of the disease,
kidney failure,
heart irregularities
impaired arterial circulation
increased risk of heart attack or stroke.
Other symptoms include decreased sweating, fever, and gastrointestinal difficulties, particularly after eating.
Hunter Syndrome
•An X-linked disorder, syndrome is most often seen in males, although rare female cases have been reported
Slightly higher incidence has been noted in the Jewish population living in Israel
Symptoms in type A may include:
coarse facial features and short stature
enlarged liver and spleen
progressive and profound intellectual developmental disabilities
ivory-colored skin lesions on the upper back and sides of the upper arms and thighs
skeletal changes, joint stiffness, short neck, broad chest, and too-large head
progressive deafness
atypical retinitis pigmentosa and visual impairment
X-Linked Adrenoleukodystrophy
Affects the nervous system white matter and the adrenal cortex.
Three main phenotypes are seen in affected males.
The childhood cerebral form manifests most commonly between ages four and eight years.
It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years.
Fragile X Syndrome
Located on the X chromosome is a gene called FMR-1
Gene necessary to produce a protein that helps the brain function normally
Defect occurs in this gene
Place where the gene is located on the X chromosome looks like it is about to break off
For some the gene is only partially defective
Carrier men pass the premutation in the gene to all their daughters but none of their sons.
Each child of a carrier woman has a 50% chance of inheriting the gene defect.
Premutation can be passed silently down through generations in a family before a child is affected by the syndrome.
Most common inherited cause of intellectual disability
Estimated that up to 6% of intellectually disabled males
Autism affects about 60% of patients with Fragile X Syndrome
Attention deficit disorder with hyperactivity (ADHD) is also common
Learning disabilities are especially notable in mathematics
Males
mild to profound intellectual developmental disability
hand-flapping or biting
poor eye contact
large ears
thickened nasal bridge
large head in childhood
prominent jaw and testes
Pelizaeous Merzbacher Disease
Is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate
The disease is one of a group of gene-linked disorders known as the leukodystrophies, which affect growth of the myelin sheath -- the fatty covering that wraps around and protects nerve fibers in the brain.
The disease is caused by a mutation in the gene that controls the production of a myelin protein called proteolipid protein-1 (PLP1).
Inherited as an X-linked recessive trait; the affected individuals are male and the mothers are carriers of the PLP1 mutation
Huntington’s Disease
Venezuela has highest concentration of this disease
Largest family with this lives along Lake Maracaibo
In 1983, the location of the disease’s gene on chromosome 4 was found using then-unknown techniques of recombinant DNA technology
In 1993, the gene for the disease itself was discovered, leading to a dramatic re-assessment of the nature of this disease.
If they both inherit two Huntington's disease genes, 100 percent of their children will have this disease
Genetic research by Nancy Wexler identified the gene
Called originally “St. Vitus Dance”
Was traced to family for Bures in Suffock, England who came to Boston in 1630
is a dominant gene (50/50 chance)
Neuronal loss causes some of the following symptoms:
abnormal facial movements
abnormal body movements
mood swings
depression
irritability
jaw clenching (bruxism)
slurred speech
difficulty walking
personality changes
loss of mental capacity (dementia).
Course of the disease
Abnormal facial and body movements are often described as uncontrollable dance-like, quick jerking movements
Movements are sometimes referred to as ______ chorea because "chorea" means dance
Symptoms of the disease become more severe over time as the cells in the brain continue to die
Within fifteen to twenty years of the onset of the symptoms of the disease, the patient dies
Severity of symptoms
Severity of the symptoms of disease is also directly related to the number of repeats in the DNA sequence
Patients with only a few additional repeats may only develop mild symptoms late in life
Patients with many additional repeats may strongly exhibit the symptoms of disease
Symptoms are due to loss of brain neurons
Tay-Sachs Disease
is very rare
Genetic mutations (HEXA gene)
More common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds
Mutations responsible for this disease more common in certain
Some French-Canadian communities of Quebec,
Old Order Amish community in Pennsylvania,
Cajun population of Louisiana.
Child appears healthy at birth
Develops normally for a few months
Symptoms appear by six months
Development slows
Motor skills and mental functions are gradually compromised
Child becomes blind, deaf, intellectually disabled, paralyzed and non responsive
Children usually die by age five
If both parents are carriers of this gene
1 in 4 (25%) chance, with every pregnancy, of having a child with this disease
Lack the vital enzyme, hexosaminidase A (Hex-A)
Enzyme needed for break down of fatty waste substance found in brain cells
Gradual accumulation of the substance destroys the nervous system
Sickle Cell Disease
Affects millions of people worldwide
Most common among people whose ancestors come from
Africa;
Mediterranean countries such as Greece, Turkey, and Italy;
Arabian Peninsula;
India;
Spanish-speaking regions in South America, Central America, and parts of the Caribbean
Most common inherited blood disorder in the United States, affecting 70,000 to 80,000 American
Disease is estimated to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic Americans.
Chronic blood disease in which red blood cells become crescent shaped Cresent/sickle shaped cells are unable to deliver adequate amounts of oxygen to other cells
Results in anemia (low blood counts)
Episodes of pain
Increased susceptibility to infections
Life-threatening
Hemolytic crises (the breakdown of red blood cells)
Aplastic crises (bone marrow fails to produce blood cells) occur.
Symptoms may not appear until 4 months
Fatigue
Breathlessness
Rapid heart rate
Delayed growth and puberty
Susceptibility to infections
Ulcers on the lower legs (in adolescents and adults)
Jaundice
Attacks of abdominal pain
Weakness
Joint pain
Fever
Vomiting
Bloody (hematuria) urination
Excessive thirst
Penis pain,
Chest Pain
Decreased fertility
Phenylketonuria (PKU)
genetic disorder in which the body unable to process part of a protein called phenylalanine (Phe).
If Phe level gets too high, the brain is damaged and can cause severe intellectually disabled.
All babies born in U.S. hospitals must now have a screening test for it.
This makes it easier to diagnose and treat the problem early.
Inherited metabolic disease (also called an inborn error of metabolism) that leads to intellectual disability.
Other developmental disabilities if untreated in infancy
Inborn error of metabolism,
Body is unable to produce proteins or enzymes needed to convert certain toxic chemicals into nontoxic products
Amino acid called phenylalanine accumulates
Phenylalanine builds up in the bloodstream
Causes brain damage
Infants with it untreated appear to develop typically for the first few months of life
By twelve months of age most babies will have a significant developmental delay and will be diagnosed with intellectual disability before school entry
inherited as a single-gene disorder
Single-gene disorders are caused by a mutant or abnormal gene
Can be inherited in one of three patterns: autosomal dominant, autosomal recessive and X-linked.
an autosomal recessive disorder.
Each parent of a child with carries one defective gene for the disorder and one normal gene
To inherit it, both parents must be carriers
One in four chance of their producing an affected child with each pregnancy
No gender difference for risk of inheriting
Lesch-Nyhan Syndrome
Rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase(HPRT).
LNS is an X-linked recessive disease-- the gene is carried by the mother and passed on to her son.
LNS is present at birth in baby boys
Build-up of uric acid in all body fluids
Severe gout
Poor muscle control
Moderate intellectual disability, which appear in the first year of life
Neurological symptoms
Facial grimacing
Involuntary writhing
Repetitive movements of the arms and legs similar to those seen in Huntington’s disease
Self-mutilating behaviors – characterized by lip and finger biting – that begin in the second year of life
Prognosis for individuals with LNS is poor.
Death is usually due to renal failure in the first or second decade of life
