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PKU (Phenylketonuria)
A genetic disorder where the body cannot metabolize phenylalanine, leading to a build-up that causes brain damage and intellectual disabilities unless treated by dietary restriction.
Williams Syndrome
A genetic disorder characterized by mild to moderate intellectual disability, heart problems, and a distinctive personality with high socialization, often accompanied by a love for music.
Huntington's disease
A human genetic disease caused by a dominant allele; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms.
Down Syndrome
A genetic condition caused by the presence of an extra chromosome 21 (trisomy 21), leading to developmental delays, intellectual disability, and certain physical characteristics such as almond-shaped eyes and a flat nose bridge.
Assortative Mating
The phenomenon where individuals tend to pair up with others who have similar characteristics, such as intelligence, education level, or personality traits.
Random Mating
A type of mate selection where individuals choose partners without regard to their genetic traits or similarities (opposite of assortative mating).
Brain Development
The process by which the brain grows and matures, influenced by both genetic and environmental factors, affecting cognitive, emotional, and motor abilities.
Dominance
where one allele (dominant) masks the expression of another (recessive) in inheritance
Genetic Variance
The variability in a trait or characteristic within a population due to genetic differences.
Shared Environmental Variance
The portion of variability in a trait that is due to environmental factors shared by family members, such as socioeconomic status or family dynamics.
Nonshared Environmental Variance
Environmental factors that contribute to differences between individuals in a family, such as unique experiences, peer influences, or personal choices.
Mediation
A process by which a third variable explains the relationship between two other variables. For example, a mediator might explain how one variable influences another.
Moderation
A process where a third variable affects the strength or direction of the relationship between two variables. It shows when or under what conditions the relationship occurs.
Genetic Correlation
The degree to which two traits share genetic influences. If two traits have a high genetic correlation, they may be influenced by similar genetic factors.
Comorbidity
The occurrence of two or more disorders or diseases in the same individual, either simultaneously or sequentially.
Polygenic Risk
refers to the cumulative effect of multiple genetic variants (genes) on an individual's likelihood of developing a particular disease or trait.
SNP (Single Nucleotide Polymorphism)
is a variation in a single DNA nucleotide (A, T, C, or G) at a specific position in the genome. SNPs are the most common type of genetic variation among people and can influence traits, disease risk, and response to medications.
Prevalence
The proportion of individuals in a population who have a specific disorder at a given time or during a specified period.
Psychopathology
The study of mental disorders, including their causes, symptoms, and treatments.
Risk Factors
The tendency to engage in uncertain or risky behaviors.
Resilience Factors
A variable that increases one's ability to avoid or cope with negative outcomes despite a risk for psychopathology
flat affect
is a lack of emotional expression, often seen in conditions like schizophrenia, depression, or neurological disorders.
Aggression
any physical or verbal behavior intended to hurt or destroy
Bipolar disorder
A mood disorder in which the person alternates between the hopelessness and lethargy of depression and the overexcited state of mania.
major depressive disorder
A mood disorder in which a person experiences, in the absence of drugs or a medical condition, two or more weeks of significantly depressed moods, feelings of worthlessness, and diminished interest or pleasure in most activities.
anxiety disorder
a condition in which real or imagined fears are difficult to control
Neuroticism
is a personality trait characterized by a tendency to experience negative emotions such as anxiety, depression, and mood swings.
Panic disorder
An anxiety disorder marked by unpredictable minutes-long episodes of intense dread in which a person experiences terror and accompanying chest pain, choking, or other frightening sensations.
externalizing disorders
psychosocial problems that are manifested in a turning of the symptoms outward, as in aggression or delinquency
internalizing disorders
psychosocial problems that are manifested in a turning of the symptoms inward, as in depression or anxiety
mania
a mood disorder marked by a hyperactive, wildly optimistic state
antisocial behavior
behavior that either damages interpersonal relationships or is culturally undesirable
substance use disorder
disorder characterized by continued substance craving and use despite significant life disruption and/or physical risk
antisocial personality disorder
A personality disorder in which the person (usually a man) exhibits a lack of conscience for wrongdoing, even toward friends and family members. May be aggressive and ruthless or a clever con artist.
conduct disorder
is a mental health condition in children and adolescents characterized by persistent patterns of aggressive, disruptive, and antisocial behavior.
Attention-Deficit/Hyperactivity Disorder (ADHD)
A neurodevelopmental disorder characterized by persistent patterns of inattention, hyperactivity, and impulsivity that interfere with daily functioning.
Autism Spectrum Disorder (ASD)
A developmental disorder characterized by deficits in social communication, repetitive behaviors, and restricted interests, with varying degrees of severity.
Social Neuroscience
The study of how the brain processes social information, including understanding emotions, social behaviors, and interactions with others.
Rater Bias
The tendency for a rater (e.g., clinician, teacher) to be influenced by personal biases or subjective judgments when assessing an individual.
Temperament
The innate traits that determine an individual's emotional responses, activity level, and attention span, forming the foundation for personality.
Big Five Personality Traits (OCEAN)
A model of personality consisting of five broad domains: Openness (curiosity, imagination), Conscientiousness (self-discipline, organization), Extraversion (sociability, assertiveness), Agreeableness (cooperation, empathy), Neuroticism (emotional instability, anxiety).
Neuron
: A nerve cell that is the fundamental unit of the brain and nervous system , responsible for transmitting information via electrical impulses .
Coronal
A vertical slice dividing the front and back of the brain .
Axial
A horizontal slice dividing the top and bottom of the brain .
Sagittal
A vertical slice dividing the left and right sides of the brain .
4 brain lobes
frontal, parietal, temporal, occipital
frontal lobe
A region of the cerebral cortex that has specialized areas for movement, abstract thinking, planning, memory, and judgement
parietal lobe
A region of the cerebral cortex whose functions include processing information about touch.
temporal lobe
A region of the cerebral cortex responsible for hearing and language.
occipital lobe
A region of the cerebral cortex that processes visual information
Amygdala
A limbic system structure involved in memory and emotion, particularly fear and aggression.
insula
regions of cortex located at the junction of the frontal and temporal lobes
Pleiotropy
A single gene having multiple effects on an individuals phenotype
functional magnetic resonance imaging (fMRI)
an imaging technique used to examine changes in the activity of the working human brain by measuring changes in the blood's oxygen levels
eventārelated potentials (ERP)
brain responses measured using EEG (electroencephalography) that occur in reaction to specific sensory, cognitive, or motor events.
lateral prefrontal cortex
a region in the frontal lobe of the brain involved in higher cognitive functions, such as decision-making, working memory, attention, and cognitive control.
medial prefrontal cortex
a region of the cortex in the anterior frontal lobes involved in executive function and emotion regulation that is implicated in mood and anxiety disorders
Gray matter
Brain and spinal cord tissue that appears gray with the naked eye; consists mainly of neuronal cell bodies (nuclei) and lacks myelinated axons.
White matter
Whitish nervous tissue of the CNS consisting of neurons and their myelin sheaths.
Hemodynamic response/BOLD response
body's mechanism of increasing blood flow to active neuronal tissues, delivering oxygen and glucose to meet energy demands during neural activity
informationāprocessing measures
methodologies used to assess how individuals perceive, interpret, and respond to information
Executive Functioning
encompasses a set of cognitive processes that enable individuals to plan, focus attention, remember instructions, and juggle multiple tasks effectively.
Verbal ability
various capabilities associated with understanding and expressing oral and written communication
Spatial ability
capabilities associated with visual and mental representation and manipulation of objects in space
processing speed
The speed with which an individual can perceive auditory or visual information and respond to it.
Memory
the persistence of learning over time through the storage and retrieval of information
Cornea
The transparent, dome-shaped surface that covers the front of the eye, responsible for most of the eye's focusing power.
Pupil
The central aperture of the iris that regulates the amount of light entering the eye.
Lens
A transparent, flexible structure that fine-tunes the focusing of light onto the retina.
Retina
The light-sensitive layer at the back of the eye containing photoreceptor cells (rods and cones) that convert light into neural signals.
optic nerve
Transmits visual information from the retina to the brain.
Lateral Geniculate Nucleus (LGN)
A relay center in the thalamus that processes visual information received from the optic nerve.
Visual Cortex
Located in the occipital lobe, it is responsible for interpreting visual stimuli, including aspects like color, shape, and motion.
Ventral Stream ("What" Pathway)
Involved in object recognition and form representation, processing details about object identity.
Dorsal Stream ("Where/How" Pathway)
Responsible for processing spatial information and guiding actions in relation to visual stimuli.
Heritable Influences of schizophrenia
Schizophrenia has a strong genetic component. Twin studies suggest the heritability is about 80%. Family studies indicate that individuals with a first-degree relative with schizophrenia are at higher risk.
Environmental Influences of schizophrenia
Environmental factors include prenatal exposure to viruses, malnutrition, stressful life events, and drug use (e.g., cannabis use during adolescence). Childhood trauma and urban upbringing also increase risk.
Symptoms of Schizophrenia
Hallucinations, delusions, disorganized thinking, negative symptoms (e.g., flat affect), cognitive impairments.
Gene Candidates of schizophrenia
Various genes have been implicated, including the DISC1 gene (involved in neurodevelopment), COMT (dopamine regulation), and NRG1 (important in brain signaling).
Gene Pathways of schizophrenia
Studies suggest that disruptions in dopamine, glutamate, and GABA pathways may be key.
Linkage, Association, and Sequencing Studies of schizophrenia
Linkage studies have pointed to the 7q11 region, while association studies have identified genes related to neurotransmitter systems. Sequencing studies have revealed new candidate genes involved in the regulation of synaptic plasticity and brain development.
Adult Psychiatric Traits
Disorders like depression, bipolar disorder, and schizophrenia tend to emerge in adolescence or early adulthood, with strong genetic components (e.g., depression and bipolar have about 40-50% heritability). Environmental factors like life stress are significant in adult psychiatric disorders
Childhood Psychiatric Traits
Disorders like ADHD and autism are more strongly influenced by genetic factors, with ADHD showing high heritability (around 70%). Early-life adversity and attachment issues also play a role in childhood disorders.
Heritability
Traits like autism and schizophrenia have higher heritability in childhood, while personality disorders or mood disorders in adults show a more complex interaction of genes and environment
Environment play
Early-life environmental factors such as maternal care, early trauma, and socio-economic stress influence childhood disorders, while adult psychiatric conditions are influenced by life events and social context.
Gene Pathways in disorders
Common genes in both childhood and adult disorders include those affecting neurodevelopment (e.g., BDNF, MECP2), neurotransmitter systems (e.g., dopamine, serotonin), and synaptic plasticity.
Sex differences in substance abuse
Men are more likely to engage in substance use, and develop disorders like alcohol dependence. However, women tend to develop these disorders later and are more prone to mental health comorbidities. There are also differences in the severity of withdrawal symptoms and treatment responses.
Age Patterns in substance abuse
Substance use disorders tend to peak in late adolescence and early adulthood, with patterns differing by substance (e.g., alcohol use starting earlier, cocaine use peaking later).
Cultural Differences of substance abuse
Environmental factors, including cultural norms and access to substances, contribute to differing patterns of substance use in different populations.
Genetic Studies on Alcohol Use Disorder (AUD)
Twin and adoption studies show a strong genetic component to AUD, with heritability estimates of around 50-60%. The ALDH2 gene, responsible for alcohol metabolism, has been implicated in differences in alcohol sensitivity and dependence, especially in East Asian populations.
Animal Studies in alcohol use
Studies in rodents show that alcohol consumption is influenced by genetic variation in genes involved in neurotransmission, including GABA and dopamine receptors.
Metabolism and Sensitivity on alcohol use
People with certain genetic variants of alcohol-metabolizing enzymes (e.g., ADH, ALDH) have a reduced sensitivity to alcohol, increasing their risk of developing AUD.
DSM-V Changes to alcohol related disorders
The DSM-V reclassified alcohol-related disorders, focusing more on criteria such as cravings and impairment in functioning, which has influenced genetic studies and the understanding of environmental contributions to AUD.
Twin and Adoption Studies on smoking
Smoking behaviors are highly heritable (50-60%). Studies show that genetic factors play a role in nicotine dependence and withdrawal symptoms.
GWAS (genome wide association study) on smoking
Genome-wide association studies have identified genes involved in nicotine metabolism and reward pathways, including the CHRNA5-CHRNA3-CHRNB4 gene cluster, which affects nicotine sensitivity and dependence.
Animal Studies in smoking
Animal models have shown that mutations in nicotine receptor genes alter smoking behavior, supporting genetic predispositions to nicotine dependence.
Genetic studies on cannabis use
Twin studies show moderate heritability (around 30-40%) for cannabis use. Genetic factors are linked to cannabis use behaviors, with specific genes involved in the endocannabinoid system being of interest.
Gwas studies on cannabis use
GWAS studies have highlighted genes related to cannabinoid receptors (CNR1) and genes affecting neurotransmission.
Environmental Factors on cannabis use
Family and peer influences significantly affect cannabis use, with early initiation being a key factor in developing cannabis use disorder.
gateway hypothesis
suggests that the use of substances like tobacco or alcohol increases the likelihood of using harder drugs (e.g., cocaine or heroin).