TERMINOLOGY WORLD

What is this thing?: my lifelong special interest is in human pathophysiology and medical terminology. I've been reading medical text for fun since I was really little, I love learning about it. this is, a, collection of terms I have compiled in a document I started, I think..over a year ago? It is mostly related to: congenital disorders, and various psychological terms related to different disorders. but I love to read so it will constantly be updating

one of my favorite things to do is apply real medical science to fictional characters, that is not currently included in this webpage. If people want me to add it, maybe I will..

NOTES:
1. any information I put here comes from a lot of research, but regardless, I am not a doctor and not studying to become one I do this for fun. if somehow I include information that is outdated, or something is left out that you feel should be included, let me know..thank you..

2. All information comes from places like the National Library of Medicine, Nation Institute of Child Health and Human Development, World Health Organization, and if a condition has an organization dedicated to information, often that organization's website as well. I encourage checking out those sites if you want more detailed information!!!

3. I am easily upset by misusage of terminology regarding disabilities and medical conditions. you might see instances where I point out how a term is misunderstood when I define it.

4. If you want me to add information about a specific medical subject, my email is on my home page! tell me!! I will always be happy to read and catalogue more.

Congenital / Neurodevelopmental Disorders

Congenital meaning: conditions present at or before birth, often inherited but not necessarily. Neurodevelopmental meaning: primarily affecting the development and functioning of the nervous system, including brain and spinal cord * I did not list it for every condition individually, but many of them can cause seizures/increased likelihood of epilepsy.

• Dandy-Walker Syndrome: a condition in which the cerebellum (back of the brain controlling movement/balance) does not form normally. parts may be small or missing, or become filled with fluid. symptoms can include trouble with fine motor skills, vision, balance, stiff muscles, seizures, developmental delays, and some children may experience paralysis as well. Malformation is the most severe type, while Variant is the mildest type.
• Ventriculomegaly: the most common fetal brain abnormality (I had this lol) in which the cerebrospinal fluid builds up in the ventricles of the brain and causes them to enlarge. can range from mild to severe (severe ventriculomegaly may turn into Hydrocephalus). In some cases, ventriculomegaly may be “self limiting” meaning it resolves on its own in utero. 90% of infants with mild-moderate ventriculomegaly typically have no symptoms and develop normally but depending on the cause or existence of other developmental anomalies, 10% of infants have developmental/neurological disabilities. It can be associated with/caused by infection, malformations like spina bifida and heart defects, and chromosomal abnormalities like down syndrome and fragile X. Genetic syndromes are the cause in 50% of cases, in 10% of cases there is an abnormal number of chromosomes (usually trisomy 13/patau syndrome, trisomy 18/edwards syndrome, or trisomy 21/down syndrome). Isolated ventriculomegaly is not inherited, but the probability of trisomy 21 is four times as high.
• Hydrocephalus: Severe ventriculomegaly causing pressure on the brain from build up of cerebrospinal fluid. Symptoms of hydrocephalus include an enlarged head and/or a soft spot on the top of the head, irritability or sleepiness, abnormal eye movement, and developmental delays. Treatment after birth is surgery to place a shunt (tube that flows from the brain to the heart or abdomen so cerebrospinal fluid can exit the skull and be absorbed elsewhere).
• Down Syndrome (Trisomy 21): a genetic condition in which a person has an extra chromosome 21. It is not usually inherited, but just a randomly occurring mistake in cell division. In most cases the extra chromosome is a complete extra copy, but sometimes some cells are normal while others have trisomy 21 (this is called mosaicism) or parts of chromosomes separate or fuse together differently (translocation, isochromosome, or ring chromosome). Cases where only some parts of chromosome 21 are affected cause partial Down syndrome in which features are milder and vary depending on the genes involved. Down syndrome causes physical signs like a flatter facial profile, upslanting eyes, wide/short hands and fingers, short neck, shorter than average height, and low muscle tone, and sometimes causes heart anomalies, visual symptoms (like cataracts, myopia, and nystagmus), hearing problems, gastrointestinal and endocrine abnormalities, and developmental delays. Likelihood of Down syndrome increases the older the mother is. People with Down syndrome also have increased likelihood of issues like congenital heart defects, epilepsy, and leukemia.
• Spina bifida: a neural tube defect in which the spinal cord doesn’t close completely, creating a gap in the spine where parts of the spinal cord and membrane may be exposed. There are different types of Spina bifida.
  Occulta - the mildest type in which there’s just a small gap in the bones of the spine, a lot of the time people are unaware they have it and find it by accident getting X-rays for something else
  Meningocele - a rare type where a sac of spinal fluid bulges out of the spine without affecting the nerves, causing only minor trouble with functioning.
  Myelomeningocele - the most severe type in which the spinal canal is open and part of the spinal cord pushes through and forms a sac on the baby’s back exposing nerves and tissue. This can cause paralysis and issues with bladder and bowel function.
• Cerebral Palsy: neurological condition affecting movement and muscle tone, caused by brain damage during fetal developmental or other developmental disability. The known types are:
  spastic (most common type) - damage to the motor cortex causing muscle tightness and spasms
  dyskinetic - damage to the cerebellum/basal ganglia causing issues with muscle control fluctuating between stiff and floppy
  ataxic - damage to the cerebellum causing issues with balance, coordination, and shakiness
  hypotonic - damage to the cerebellum causing low muscle tone or "floppy" muscles
  mixed cerebral pralsy occurs when damage to multiple parts of the brain causes symptoms of multiple types.
  Cerebral Palsy can affect one half of the body (hemiplegia), two of the same limbs (diplegia), just one limb (monoplegia) or three limbs (triplegia), or all limbs (quadriplegia). Other co-occurring issues include delayed neurological development, vision or hearing related issues, sleep disorders, and frequent bone fractures.
• Rett Syndrome: a condition that primarily affects girls and is caused by a mutation in the MECP2 gene. It is a randomly occurring gene mutation in which the protein MeCP2, needed for brain development and activates/deactivates gene functions, is not made properly or too little of it is made. After a period of normal development there is a sudden regression in motor and cognitive skills. symptoms include loss of communication abilities, breathing problems, repetitive hand movements, and slowed growth.
• Agenesis of the Corpus Callosum: brain defect of which the corpus callosum doesn’t develop normally. it can be underdeveloped, have fewer fibers connecting the two sides of the brain, or the two sides of the brain aren’t connected at all. Severity of symptoms varies significantly, some children require lifelong care while people with milder forms may not be detected on fetal ultrasounds/MRIs and don’t notice symptoms until adulthood. symptoms include: additional brain abnormalities (like enlarged ventricles or defects in the brain’s cortex or tissue), vision problems, low muscle tone, developmental delays, hearing problems.
• Chiari Malformation: a malformation in which the lower part of the brain pushes into the spinal canal. Sometimes it does not cause symptoms but symptoms that can occur include: headaches, dizziness, muscle weakness, numbness in limbs, vision and hearing problems, and insomnia. Chiari malformation is not life threatening, but there is risk of fluid filling a cavity in the spinal cord (called syringomelia) which can damage the spinal cord. An exact cause is unknown, it is present from birth but normally undetected until adulthood when symptoms develop or during an MRI for something else.
• Colpocephaly: a cephalic disorder (disorder affecting the fetus’s brain and spinal cord) in which the ventricles in the back of the brain specifically are enlarged. symptoms include difficulties with problem solving, attention, hyperactivity, movement, vision problems, and hearing issues.
• Craniosynostosis: when the bones of a baby’s skull join too early, causing a misshapen skull and cognitive impairment if intracranial pressure goes untreated.
• Turner Syndrome: a genetic condition in people with XX chromosomes in which they have only one normal X chromosome, causing shorter than average height and underdeveloped ovaries which leads to a lack of periods and infertility.
• Tuberous Sclerosis: a rare genetic condition caused by changes in the TSC1 or TSC2 genes responsible for regulating cell growth. This results in benign tumors growing on various parts of the body. Most often it affects the brain, eyes, skin, kidneys, heart, and lungs. It is present from birth but doesn't always show until later in life. The tumors can cause symptoms such as: epilepsy, learning disability, hyperactivity, autism/symptoms of autism, skin abnormalities (patches of light or thick skin, red spots like acne on the face), kidney problems, breathing difficulty, and fluid build-up on the brain (hydrocephalus)
• Encephalocele: a neural tube defect in which openings in the skull cause sac-like protrusions of the brain and membranes. can cause issues like developmental delay, loss of strength in limbs, and buildup of fluid in the brain.
• Lissencephaly: when the brain develops to be smooth without the normal folds (smooth brain). symptoms include mental disability, dysphagia, issues with movement, limb differences, and slow physical development.
• DiGeorge Syndrome (22q11 deletion): a usually randomly occurring genetic condition causing 22q11 deletion in a person's genes, causing a wide range of problems from mild to life threatening. 90% of the time the piece of DNA deleted was missing from the egg or sperm, which can occur by chance. Symptoms can include: learning and behavior disorders, problems with speech, hearing, and feeding, heart defects, and hypoparathyroidism.
• Fetal Alcohol Spectrum Disorder: a disorder that occurs when alcohol from a mother's blood is passed to her baby through the placenta. The alcohol does not process well and stays in the baby's body causing damage to brain and body development. Babies that survive and are born with FASD have issues with movement, emotional and social development, hyperactivity, cognitive disability, and problems in various joints, muscles, bones, and organs.
• Prader-Willi Syndrome: a rare genetic condition caused by missing genetic material in chromosome 15 resulting in a wide range of physical and behavioral symptoms. It's thought to affect the hypothalamus, which produces hormones and regulates growth and appetite. Characterized by restricted growth, behavioral issues, and an excessive appetite and overeating.
• Polymicrogyria: a condition where the migrating brain cells/neurons become disorganized, causing the brain to have a larger number of folds in the brain, which are also unusually small. impairment depends on what parts of the brain are affected and how severe the deformity is. Most people with polymicrogyria will develop seizures at some point, though the type of seizure depends on what part of the brain is affected. Other symptoms include motor and cognitive and behavioral delays, swallowing problems, dyslexia, and symptoms of autism.
• Schizencephaly: in which there is a split in the brain tissue from the surface of the brain to the ventricles. symptoms include developmental delay, stuff muscles, paralysis, buildup of fluid in the brain, and misalignment of the eyes. People with closed-lip schizencephaly (the split is short and doesn’t reach the ventricles) may have no symptoms.
• Angelman Syndrome: a condition causing mental disability, trouble with speech, sleeping issues, stiff movement, and seizures. also characterized by lighter hair, skin, and eye color and being easy to excite and smiling and laughing often. caused by changes in the UBE3A gene.
• Williams Syndrome: a condition caused by deletion of part of chromosome 7 and characterized by mental disability, cardiovascular disease, and endocrine abnormalities. It also causes certain physical characteristics such as full cheeks, small jaw, large ears, upturned nose and a wide mouth. People with Williams syndrome often have outgoing personalities and increased empathy.
• Fragile-X Syndrome (Martin-Bell Syndrome): a genetic condition in which the FMR1 gene on the X chromosome doesn’t make the FMRP protein needed for brain development causing developmental disability, behavioral issues, and sometimes physical abnormalities. symptoms include developmental delays, problems with math, social anxiety, sleep disorders, impulsivity, hyperactivity and symptoms of autism like poor eye contact, sensory disorders, and issues with social cues. FXS is seen as the most common genetic cause of autism (“syndromic autism” which makes up about 25% of cases of autism, while autism with no cause is called idiopathic/classic). can sometimes cause physical features like a large forehead, narrow face, flat feet, and low muscle tone. People with FXS as infants and throughout childhood/adolescence also commonly have connective tissue issues (scoliosis, inguinal hernias, cardiac murmur, hyperflexible joints), eye issues (strabismus/lazy eye, ptosis, near or farsightedness), digestive disorders, and ear or urinary tract infections.
  FXS often causes moderate to severe intellectual disability in people with XY chromosomes while 2/3 of people with XX may have no to mild degree of intellectual disability (this is because it’s an inherited X chromosome condition, so someone with XY chromosomes has the one X chromosome not making the FMRP protein, while someone with XX chromosomes likely still has one X making some amount of the protein.)
  Fathers with the FXS premutation will pass the premutation onto their daughters while mothers have a 50/50 chance of passing on the pre or full mutation to their sons or daughters. Mothers with the premutation also have a higher twinning rate (50/50 chance applies to each twin if fraternal while identical twins would either both have it or not because they share genetic makeup).
  There are two fragile X syndrome related conditions that can also develop in adulthood (applies to both the pre and full mutations): Fragile X associated tremor/ataxia syndrome (causes balance issues, shaky hands, memory loss and numbness) and Fragile X associated primary ovarian insufficiency (causes reduced fertility, unpredictable periods, and premature menopause)
• Autism Spectrum Disorder: a neurodevelopmental disorder characterized by difficulties with communication, social interaction, restrictive and repetitive behavior. Symptoms include deficits in social communication (social-emotional reciprocity, nonverbal communication, and developing/understanding relationships) and restrictive and repetitive behaviors (stereotyped motor movement or speech, inflexible adherence to sameness/routines and ritualized behaviors, highly restricted and intense interests, and hyper or hyporeactivity to sensory input) that cause clinically significant impairment. Symptoms are present in the early developmental period, but some autistic peoples symptoms may not be clear until adulthood, or may be masked by learned strategies. Autism commonly co-occurs with intellectual disability, may be associated with other medical conditions and catatonia. In the DSM-5, Autism severity is described with levels:
  1 - requiring support
  2 - requiring substantial support
  3 - requiring very substantial support
  these are determined to give an idea of what types of support someone needs (someone diagnosed with level 1 may struggle with things like household tasks and transportation, while someone with level 3 may need 24/7 help with things like feeding themself and bathing)

Autism and Autism-specific information * information about autism comes from the same previously mentioned sources. I will never use Autism Speaks for information.
TBA

Various terms for neurological and psychological conditions, symptoms, behaviors, etc. some are commonly connected to disorders like autism, psychosis, or others.

• Perseveration: to involuntarily repeat specific thoughts, activities, words, or behaviors when they are not appropriate or relevant.
• Cognitive rigidity: similar to perseveration, this is inflexibility in thinking patterns. causes resistance to change, obsessive behavior, and difficulty understanding abstract concepts.
• Theory of Mind: refers to the ability to be aware of other people and understand that they have their own mental states. impairment can range from being unable to understand social cues and know other people's intentions, to being unable to process the presence of another person at all.
• Intrusive thoughts: refers to disturbing and uncharacteristic thoughts. they may be difficult for a person to get rid of and result in distress and anxiety. often violent, sexual, or related to health or identity.
• Ipseity disturbance: also known as self-disorder, this is when a person’s minimal self (the sense of one’s experiences being their own) is diminished so they feel that their own experiences both externally and internally are not their own. This can vary in severity from just a vague feeling of thoughts not belonging to one’s self, to one’s own thoughts feeling like external hallucinations. Strong cases of this are characteristic of schizophrenia spectrum disorders and can occur as a sign prior to the emergence of full on psychotic symptoms.
• Nonverbal: lacking the ability to use verbal speech (referring to permanent inability or cases in which someone lost the ability and did not gain it back. to say "going nonverbal" to refer to temporary loss of speech is misusage of this term. that is speech loss or verbal shutdown)
• Semiverbal: refers to consistent/permanent difficulty with verbal speech. includes having very limited speech, relying on repeating words/phrases, difficulty forming sentences, or difficulties with fluency like mumbling or stuttering.
  other speech descriptors from Assistiveware (an AAC company):
  Insufficient speech - being able to say simple phrases, but being unable to elaborate
  Intermittent speech - periodically losing and regaining the ability to speak
  Unreliable speech - saying something that doesn’t at all match what is actually trying to be said. like substituting one word with another and changing the meaning, or repeating a word/phrase in a situation that doesn’t match the context.
  Expensive speech - being able to speak for a short period of time but it uses up so much energy that the ability to is depleted afterward