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Glossary of terms
By Sandy Starr (Communications Officer at the Progress Educational Trust)
This glossary forms part of a School Resource Pack created by the Progress Educational Trust (PET) as part of its project Spectrum of Opinion: Genes, Autism and Psychological Spectrum Disorders. A broader glossary of terms relevant to genetics, assisted conception, embryo/stem cell research and related areas can be found on PET's BioNews website.
Ability
The power to perform physical or mental actions. Where this is significantly lacking, it results in disability.
Absent-minded
An informal way of describing a person who is forgetful or who finds it difficult to pay or sustain attention, without suggesting that this is pathological.
Action
Something a person does or can do.
Aloneness
The characteristic, observed in autistic children by Leo Kanner, of not having or sustaining social connections with others.
Anxiety
An uncomfortable state of uneasiness whose cause might not be explicable as a normal reaction to a person's circumstances (that is, the state might be irrational).
Aryan race
A term used by the Nazis in the Second World War to represent their ideal of white-skinned, blonde-haired, blue-eyed people whom they believed to be different from and superior to others (in terms of both biology and culture).
Aspect
A constituent part of a thing, or how a thing appears when it is studied in a particular way.
Asperger's syndrome
A form of high-functioning autism that was studied and described by Hans Asperger (as distinct from the classical autism studied by Leo Kanner).
Assortative mating
A tendency for organisms to reproduce either with organisms similar to themselves (in which case the tendency will be towards a smaller diversity of traits in their population), or with organisms different from themselves (in which case the tendency will be towards a greater diversity of traits in their population).
Attention
Being able to focus a person's mind on a specific thought, or on a sequence of related thoughts.
Attention-deficit hyperactivity disorder
A neurodevelopmental disorder, characterised by hyperactivity (an unusually excitable or agitated state of mind) and difficulty in paying or sustaining attention. Evidence from scientific research suggests that the disorder is partially genetic.
Autism spectrum disorder
A term that can refer to any form of autism, or all of forms of autism, that exist within the autism spectrum.
Autism/autistic
A pervasive neurodevelopmental disorder, characterised by a triad of impairments. Evidence from scientific research suggests that the disorder is partially genetic.
Behaviour/behavioural
A person's actions and reactions.
Biochemistry/biochemical
A field of science that focuses on chemicals and chemical reactions within organisms. This field often overlaps with molecular biology and genetics.
Biology/biological
A field of science that focuses on organisms and their functioning.
Biomedicine/biomedical
The collective term for biology (as practiced by scientists in laboratories) and medicine (as practiced by doctors or clinicians in clinics). The term is also sometimes used to refer to the 'unorthodox biomedical movement', a term for those people who believe that autism is caused by chemicals in vaccines or other products.
Biopsychosocial
Involving biological, psychological and social factors.
Bipolar disorder
A neurodevelopmental disorder characterised by fluctuations of mood, involving periods of unusually elevated mood (mania) and/or periods of unusually depressed mood (depression), the two 'poles' from which the disorder gets its name. Evidence from scientific research suggests that the disorder is partially genetic.
Body
The physical entirety of a single organism.
Brain
An organ, located inside the head of humans and other complex organisms, that coordinates actions and is necessary for cognition and therefore the mind. The brain is the central part of the nervous system.
Carer
A person, often unpaid, who gives ongoing assistance and support to someone affected by a disorder, disability or impairment. A person's carer might be a relative (for example their parent or their child), a friend or a partner.
Causal modelling approach
A method of creating a model of the possible causes of a disorder, so that these possible causes can be better understood and studied.
Cause/causal
The thing responsible for producing a subsequent effect or sequence of effects (which are a consequence of the cause), or the process via which this occurs.
Characteristic/characterise
A defining or distinguishing feature, or the act of recognising such a feature.
Chemical
A substance made up of a specific type of molecule, or a way of describing a reaction that transforms one or more such substances into one or more other such substances.
Classical autism
The more severe form of autism that was originally studied by Leo Kanner (as distinct from the high-functioning form of autism studied by Hans Asperger).
Classification/classify
Organising things into groups on the basis of their common characteristics, so as to make it possible to consider these groups in general (rather than having to give specific consideration to each individual thing).
Clinic
A place where medicine is practiced. The term is often used for a place that patients visit for relatively short periods of time, rather than a place where patients stay overnight, although both types of place may be contained within the same building.
Clinician
Someone with professional qualifications who practices medicine in a clinic. They may deal with health in general (in which case they are called a general practitioner) or they may deal with a specific area of health (in which case they are called a specialist).
Cognition/cognitive
The scientific term for the process of thinking.
Communication
Using and understanding spoken and non-spoken language. Impaired communication is a constituent part of the autism triad.
Complexity/complex
Being made up many constituent parts. Complex things can be difficult to understand, and cannot be properly understood with a reductionist approach.
Concept
An idea of something, developed in an organised and deliberate way by considering the thing's characteristics.
Conception/conceive
The combining of two gametes (in complex organisms, sperm from males and eggs from females) to form a zygote which goes on to become a new organism.
Condition
The state of something, for example a person's physical or mental health. If a health condition poses a problem, then it can also be called a disorder.
Consequence
The result of something prior. This term describes the relationship of an effect to its cause.
Constituent
Serving as a specific part in a more general whole.
Context
The circumstances that can be said to surround a particular thing.
Controversy/controversial
A particularly fierce or prolonged argument or difference of opinion, or something that is likely to provoke such argument.
Coordination/coordinate
Organising multiple actions simultaneously or in a specific sequence, so as to create an effect.
Culture/cultural
A pattern of ideas and activities characteristic of a specific population of humans, or of humanity in general.
Cure
The successful restoration of physical or mental health. In other words, a treatment whose outcome is completely successful.
Cystic fibrosis
A genetic disorder that prevents the functioning of a protein connected with the body's production of mucus (in the lungs and nose), digestive juice (in the stomach) and sweat (in the skin). The health problems that arise as a consequence of this disorder lead to increasing disability and often early death.
Defect
Something that falls short or is not as it should be, the consequence of which is a lack of normal functioning.
Deficit
The extent to something falls short of what is normal.
Definition/define
A description of a thing and its characteristics that makes the thing easier to understand and classify.
Delinquent
Someone who fails to do what society and its rules require or expect of them. In the past this term had pathological implications, but this is no longer the case.
Depression
A state of sadness, helplessness or hopelessness whose cause might not be explicable as a normal reaction to a person's circumstances (that is, the state might be irrational). Although this term is sometimes used as a shorthand for major depressive disorder or bipolar disorder, depression is not in itself always pathological, and even where it is pathological it can be a symptom or sign of several different disorders.
Detection/detect
Discovering evidence for the existence of a thing.
Determine/determined
To be the cause of a thing, or responsible for its characteristics.
Development/developmental
Growth and change in an organism. Applied to humans, this means growth and change in both the body and the mind, from birth to adulthood and beyond.
Diagnosis/diagnostic
Detecting and describing a disorder based on its symptoms (as experienced and reported by the patient) and its signs (as observed and understood by a doctor or clinician).
Disability/disabled
A lack of ability to perform physical or mental actions, due to an impairment.
Disengagement
A lack of interest, involvement or investment.
Disorder
An problem with a person's physical or mental health that seems to match a diagnostic label established by nosology.
Distress
An inability to adapt to stress. In the context of mental health, this results in an uncomfortable state of mind
Diversity
A state where people or things vary greatly from one another, rather than being dominated by something that clearly appears to be normal.
DNA
Deoxyribonucleic acid, the chemical that contains genetic information and is responsible for this information being transmitted to a new organism during conception.
Doctor
Someone with professional qualifications who practices medicine in a clinic. The term is often used to refer to a general practitioner - that is, someone who deals with health in general - but it can also refer to clinicians more broadly.
Down's syndrome
A genetic disorder whose cause is an extra chromosome (the 21st chromosome) in the cells of a person's body.
Drug
A substance that, when taken into an the body of an organism, changes its physical or mental functioning.
Eccentric
An informal way of describing a person or their behaviour, when this seems different from normal and yet is not necessarily pathological.
Effect
Something produced by a prior cause or sequence of causes, the effect being a consequence of the cause(s).
Egg donor
A woman who provides one or more of her eggs, either to make conception possible for a person or couple with impaired fertility, or to be studied in biomedical research. Eggs are obtained from the donor via surgery.
Endophenotype
A specific and pathological aspect of a person's behavioural phenotype that seems likely to have a genetic cause.
Environment/environmental
The circumstances or context surrounding a thing. In biomedicine, this term is often used to describe any factor that is not genetic, but some people argue that it would be more useful to classify social and cultural factors separately from environmental factors.
Epidemic
When the number of people with a specific disorder within a specific population grows more quickly than previous experience suggested would happen.
Ethics/ethical
Beliefs, opinions and arguments about what is right and wrong, and why.
Eugenics/eugenic
The attempt or desire to improve human populations through the application of genetics. Although this term originally had quite a general meaning, it is now often used to refer to the specific ideas and actions of the Nazis in relation to the Aryan race.
Expression
A form of words commonly used to convey something, or the emergence of one thing as the consequence of another thing. In genetics, the term refers to the emergence of a phenotype as a consequence of a gene or a DNA sequence.
Evidence
Something that indicates, or helps decide, whether or not a theory is true.
Factor
One of the things involved in producing a particular consequence, effect or outcome.
Feeble-minded
A term that was used in the nineteenth and early twentieth centuries to describe people with mental impairments.
Fertility/fertile
The ability to cause conception.
Focus/focused
The specific thing or part of a thing that is at the centre of a person's attention, or the action of bringing something to the centre of attention.
Fragile X syndrome
A genetic disorder whose cause is abnormalities in one of the chromosomes (the X chromosome) in the cells of the human body.
Functioning
Doing as expected given what is normal, or doing something that produces an expected or desirable outcome.
Geek
An informal term for a person who has narrow interests, lacks social skills, or has a great ability to work with information technology. Before information technology became prominent in the late twentieth century, such a person might have been called a trainspotter.
Geekitude
The idea that being a geek is not a bad thing, but rather is something to be celebrated.
Gene
An inherited instruction, in the form of a portion of DNA, that tells an organism's body how to make proteins.
General
Referring to several related things, rather than being specific.
Genetics/genetic
The scientific study of the biochemical ways in which organisms inherit characteristics. Since the mid-twentieth century, when people's understanding of DNA improved significantly, this term has come to refer specifically to the study of genes and their expression.
Genetic marker
A gene or a DNA sequence whose specific location on a chromosome is known. Genetic markers can be used to study whether and in what way disorders have genetic causes.
Hans Asperger
An Austrian clinician who lived from 1906 to 1980, whose work had a great influence on the way we now understand autism (particularly in its more high-functioning forms). Asperger's syndrome is named after him.
Health
The state of the body and mind, and whether the body and mind are functioning as expected given what is normal.
High-functioning
Functioning as well as (or better than) the majority of people according to certain measures, despite also having impairments.
Human Genome Project
An international effort to read and interpret the entire genetic information of a human. The central part of the project - establishing the sequence of human DNA - was completed in 2003, but study of the sequence will continue for the foreseeable future.
Identical twin
A pair of brothers or sisters who have the same genes. This happens when the zygote formed at conception subsequently divides into two.
Information technology
Computers and what they make possible (including the internet).
Imagination
A person's ability to consider things not directly related to a their circumstances. In the context of autism, where impaired imagination is a constituent part of the triad, the term refers to a person's ability to understand and consider other people's behaviour, or to understand and consider things that fall outside their routine.
Impairment/impair
A limitation that prevents or makes difficult something that the majority of people are able to do.
Intelligence
The level(s) of ability of a person's mind. There are many different ways to define and test intelligence, and how best to define or test it is often a controversial question.
Intense
Strong, or strongly focused.
Interaction/interact
The effect that two or more things - for example, genes and the environment - have upon one another. In the context of autism, where impaired intreraction is a constituent part of the triad, the term refers to a person's ability to relate to other people by understanding other people's feelings and by managing their own feelings.
Intervention/intervene
A thing that comes between other things, or between parts of another thing. In medicine, the term refers to a course of action taken to treat a physical or mental health problem.
Irrational
Inconsistent with methods and concepts established by science, or inconsistent with a more general understanding of what is true, real or in people's best interests.
Kanner's syndrome
An alternative term for classical autism named after Leo Kanner, who studied and described this disorder.
Label
A word or phrase that describes a thing and makes it possible to classify it, or the process of developing such a word or phrase.
Laboratory
A place where scientists conduct research, or where tests are performed to study people's health.
Language
A system, often spoken or written, for conveying and understanding people's thinking.
Legislation
Laws that apply at a national or international level, and the process of creating them. Where rules are created that have a less official status than laws, this process is called regulation.
Leo Kanner
An Austrian psychiatrist, who lived from 1894 to 1981, and spent most of his life in America. His work had a great influence on the way we now understand autism (particularly in its more severe forms).
Lifelong
Lasting either the entire duration (the lifespan) or the remaining duration of a person's life.
Lifespan
The entirety and duration of a person's life.
Lifestyle
The habits, preferences, ideas and culture that characterise a person or group of people.
Link
A connection between two or more things, or between two or more constituent parts of a thing.
Logical
Adhering to a coherent set of rules or assumptions.
Longevity
The duration of time that a person lives for, or is expected to live for.
Major depressive disorder
A neurodevelopmental disorder characterised by depression, lack of self-esteem, and difficulty in deriving pleasure from things that are normally considered pleasant. Evidence from scientific research suggests that the disorder is partially genetic.
Medicalisation
The process or tendency via which things not previously thought pathological come to be described as such. Medicalisation is controversial, because some people argue that it trivialises already established disorders, or that it can have the effect of making people's experience of physical or mental health problems more severe.
Medication
Medicine/medical
The practice of investigating (with diagnosis) and addressing (with treatment) people's physical and mental health, using methods and concepts established by science.
Mental
Involving a person's mind - their individual self and awareness, which exist as a result of cognition.
Method
A deliberate and organised way of doing something.
Model/modelling
The use of thinking or language to create a representation of a thing that improves our understanding of its characteristics. In its less organised form this is a universal aspect of mental functioning, and in its more organised form this is a central aspect of scientific study.
Molecular biology
A field of biology that focuses on molecules, their characteristics, and their involvement in chemical reactions. This field often overlaps with biochemistry and genetics.
Narrow interests
A tendency to focus on a specific thing, or group of specific things, in an intense or obsessive way. This is behaviour characteristics of autism, and has come to be informally associated with the trainspotter or geek
Nazism/Nazi
A variety of fascism that emerged in Germany after the First World War, and a political party promoting it which governed Germany from 1933 until the end of the Second World War in 1945. A central aspect of Nazism was belief in an Aryan race.
Neurodevelopmental disorder
A disorder whose causes or consequences involve the development of the central nervous system, usually the brain.
Neurodiversity/neurodiverse
A term for brains or minds that work in a wide variety of ways (including the brains or minds of people with neurodevelopmental disorders), and for the idea that such diversity is not a bad thing but rather is something to be celebrated. The opposite of this is neurotypicality.
Neurology/neurological
A field of biomedicine that focuses on the nervous system (including the brain).
Neurotypicality/neurotypical
A term for brains or minds that work in the same way as that of the average or normal person, excluding people with neurodevelopmental disorders. The opposite of this is neurodiversity.
Normal
Having characteristics that are the same as, or similar to, those of the majority.
Nosology
A field of medicine that focuses on the classification of disorders and the creation of appropriate labels for them.
Obsessive
Focused in a way that does not seem normal or rational, with thinking dominated by one idea or set of ideas.
Occupational therapy
A form of treatment that addresses physical or mental health problems by helping and encouraging people to perform specific actions or occupations.
Organism
A living thing, capable of development and reproduction.
Outcome
The final consequence of a sequence of events. The term also refers to the state of a person's physical or mental health after diagnosis and treatment.
Panic attack
A sudden episode of intense anxiety or distress, which makes normal functioning difficult or impossible. The cause of this episode might not be explicable as a normal reaction to a person's circumstances (that is, the episode might be irrational).
Pathological
Involving a disorder.
Pathway
A route or sequence. In biochemistry, this term refers to a sequence of chemical reactions within a cell that cause an initial chemical to be modified (this process is known as metabolism).
Perceptual speed
The ability to consider and compare things both quickly and accurately.
Pervasive
Involving a variety of different impairments, rather than just one impairment. In the context of mental health, this term is used in relation to disorders that are characterised by delayed development of social and communication skills.
Phenotype
An observable characteristic or trait of an organism, representing the expression of a gene variant or a combination of gene variants.
Population
All of the people inhabiting a specific area, or all of the people inhabiting a specific area who share specific characteristics.
Predictability/predictable
The extent to which something can be reliably anticipated.
Prenatal
Prior to birth.
Prevalence
The total number of people with a specific disorder, at a specific point in time, within a specific population.
Profile/profiling
A model of the characteristics of a person or group, or the process of creating such a model.
Programme
A plan of action intended to produce a specific outcome.
Proportion
A specific group within a more general whole, or the ratio of one quantity to another.
Protein
A type of chemical whose molecules are made up of amino acids, involved in many important biochemical processes.
Psychiatric Genome-Wide Association Study Consortium
An international group of people and organisations who are working together to combine and investigate the results of genetic studies of five neurodevelopmental disorders: autism, attention-deficit hyperactivity disorder, bipolar disorder, major depressive disorder and schizophrenia.
Psychiatric institution
A place where people are kept as a consequence of impaired mental health. Such places have existed for centuries, but they changed radically during the twentieth century as a result of changes and improvements in psychology and psychiatry.
Psychiatrist
Someone with professional qualifications who practices psychiatry.
Psychiatry/psychiatric
A field of medicine that focuses on the human mind and its functioning.
Psychology/psychological
A field of science that focuses on the human mind and its functioning.
Psychopharmacogenetics
A field of science that focuses on how medication intended to treat mental health problems might have different effects, depending on genetic variants in the person receiving the medication.
Rational
According to or consistent with methods and concepts established by science, or consistent with a more general understanding of what is true, real or in people's best interests.
Reaction
The response of a person or thing to circumstances.
Reductionism/reductionist
Reducing complex things to their constituent parts, or suggesting that understanding one or more specific parts of a thing is sufficient to understand the thing in general.
Regulation
An arrangement where someone or something restricts what is and is not permitted to happen. In the context of social affairs, this term is often used to refer to the creation of rules that have a less official standing than laws (which are created via legislation).
Reproduction/reproductive
The process via which conception occurs.
Research
Careful and organised study intended to produce evidence.
Richard Dawkins
A British scientist and author who was born in 1941, and whose work originally focused on animal behaviour and evolutionary biology. His work has had a great influence on the way we now understand the role of genes in evolution.
Risk
Exposure to possible damaging or undesirable circumstances. Risk can be divided into two components - the objective chance or probability that something will occur, and the subjective burden that this will place upon a specific person or group of people.
Ritual
A routine whose purpose is not practical, or whose purpose is difficult to understand.
Routine
A regular sequence of events or behaviour that is predictable.
Sameness
The characteristic, observed in autistic children by Leo Kanner, of desiring predictability in a person's circumstances.
Scaffold/scaffolded
Something that helps to hold something else in place or supports its functioning.
Schizophrenia
A neurodevelopmental disorder, characterised by distorted ideas, beliefs, experiences and communication that make it difficult for a person to tell what is and is not real, and therefore difficult to be rational. Evidence from scientific research suggests that the disorder is partially genetic.
Science/scientific
The study of the world and everything in it, using a method that involves creating theories and then testing them against evidence from research, and that involves creating models that can reliably predict outcomes. The term is often used to refer to areas of science that deal with the natural world, but there are also social sciences.
Scientist
Someone with professional qualifications who practices science.
Sensory
To do with the ways in which we perceive our environment.
Sequence
The order in which something occurs, or a series of things occurring in a particular order.
Serviceable
Capable of being useful.
Severity/severe
The degree of impact of a thing. In the context of physical or mental health, this term refers to the degree of impact upon a person's functioning.
Side-effect
An effect of medication or of some other medical intervention, that is additional to the main or intended effect - that is, additional to the effect that constitutes treatment. Side-effects are often undesirable and problematic.
Sign
A problem with physical or mental health, observed and interpreted by a clinician (as distinct from a symptom, which is experienced and reported by the person who has it).
Social
To do with groups of people, and the way that the individuals within them relate to one another.
Species
A specific type of thing, for example a specific organism. Organisms are often said to belong to the same species if they can reproduce with one another and create fertile offspring, but there are also other definitions of what constitutes a species of organism.
Specific
Referring to one precise thing, rather than being general.
Spectrum
A range of possibilities. In the context of mental health, a spectrum includes people who have the same disorder or condition in different ways or at different levels of severity.
Steve Silberman
An American journalist and commentator who was born in 1957, and who writes specifically about information technology and related issues.
Stigma
Disgrace or shame associated with something not considered normal.
Stress
An aspect of circumstances that appears to be a threat or problem, and the reaction to it. Difficulty dealing with stress results in distress.
Study
Applying thinking to something to create a theory of its characteristics or functioning. The term also refers to a specific effort by a scientist or group of scientists, the results of which are published in a scientific journal.
Superficiality/superficial
Easy to perceive, but not very important in the general scheme of things.
Symptom
A problem with physical or mental health, experienced and reported by the person who has it (as distinct from a sign, which is observed and interpreted by a clinician).
System
A thing whose functioning can be explained as the consequence of the functioning and interaction of its constituent parts.
Temple Grandin
An American scientist and author who was born in 1947, and who has high-functioning autism. She is a well-known advocate of neurodiversity.
Test/testing
A method of establishing whether something is true or false, or whether it is present or absent.
Theory
An explanation, usually created using methods and concepts established by science, of how and why an aspect of the world exists.
Thinking
The mental process of coming up with ideas and sequences of ideas. This involves creating models of the world, reacting to circumstances in the world, and acting to change those circumstances.
Trainspotter
An informal term for someone with an intense or obsessive interest in railways and trains. The term has also come to refer more generally to a person with narrow interests, although such a person is now just as likely to be called a geek.
Trait
Either a characteristic of a person or thing, or a specific variant of an organism's phenotype. Care is required when using this term, because the fact that it has these two different meanings means that it can imply genetic cause when this has not actually been established.
Treatment/treat
A method of addressing a physical or mental health problem.
Triad
An arrangement of three constituent things. In the context of autism, this term refers to the three impairments - in communication, interaction and imagination - that characterise the disorder.
Trivialise/trivialising
Making something seem less important than it really is.
Tuberous sclerosis
A genetic disorder that causes tumours to grow in the brain and other organs.
Twin studies
The study of identical twins as a method of researching the genetics of behaviour. The fact that such twins have identical genes is used to establish whether and how environmental, social or cultural factors cause their behaviour to differ.
Unitary
Single and indivisible.
Universal/universally
Common to all or most.
Variant
A specific instance of a characteristic of a person or thing, when that same characteristic is known to be different in other instances.
Wiring
The arrangement of constituent parts inside a machine or piece of equipment.
