Glossary of Terms

A

Abduction: moving a limb or other body part away from the middle (midline) of the body

Absence seizure (formerly called “petit mal”): a generalized seizure; consciousness is altered

Absence Episodes – Also can be described as “staring” episodes

Adaptive behavior: skills needed by an individual to function effectively and appropriately for his or her age in the family, school, and community settings.

Adduction: moving a limb or other body part toward the middle (midline) of the body

Alternative communication: verbal or non verbal alternatives taking the place of traditional forms of communication

Ambulatory: having the ability to walk

Anecdotal: not necessarily true or reliable, such as reporting clinical experiences based on individual cases rather than an organized investigation with appropriate controls

Ankle-foot orthosis (AFO): an orthopedic device (splint or brace) used to support, align, or prevent/correct deformities or to improve the function of the ankle/foot

Anticonvulsant: medication used to control seizures

Apnea: breathing repeatedly stops and starts. See Central Sleep Apnea and Obstructive Sleep Apnea

Aspirated: inhaled

Aspiration: when liquids or solids enter the airway

Atonic seizures: a seizure in which a sudden loss of tone causes the individual to fall or slump 

Atypical: not typical; different

Atypical absence seizure: A generalized seizure with a brief lapse in awareness, like a typical absence, but with slower onset and offset, longer duration, and often some loss of muscle tone. Common in developmental and epileptic encephalopathies such as Lennox-Gastaut syndrome.

Augmentative communication: any form of communication that enhances, replaces or supplements an individual’s speech and writing

Autism: a developmental disability that can cause problems with social communication and interaction, and unusual behaviors or interests

B

Bilateral TC (tonic-clonic) seizure: A seizure that involves both sides of the brain from the start. The body stiffens (tonic), then jerks rhythmically (clonic), with loss of consciousness.

Body jacket (Also known as a TLSO): a thin, plastic brace with padding that is molded to place gentle pressure in a particular area on an individual’s body to straighten the spine

Bolus: a chewed clump of food; also a term that is used in tube feeding to indicate feeding given at one time

Bruxism: grinding one’s teeth. This can be common in PURA syndrome.

 

C

Central Sleep Apnea: this type of apnea occurs because your brain doesn’t send proper signals to the muscles that control your breathing, causing your breathing to repeatedly stop and start

Chromosome: a structure found within a cell’s nucleus that is made up of DNA and proteins organized into genes. Each cell typically has 23 pairs of chromosomes

Clonic seizure: Rhythmic, repetitive jerking of the muscles, without the initial stiffening phase.

Congenital: present before birth or at birth

Constipation: when bowel movements happen infrequently, or when passage is difficult or painful, or when feces are hard and small

Cure: total eradication of symptoms, such that none are discernible by a doctor or tests. Future generations are relieved of the impact.

 

D

Deletion: loss of genetic material from a chromosome

De Novo: Anew. When children are conceived their parents’ genetic material is copied in the egg and sperm that makes a new child. The biological copying method is not perfect and occasionally random, rare changes occur for the first time. Such changes, therefore, cannot be found in a child’s parents. 

Deoxyribonucleic acid (DNA): DNA is a molecule inside cells containing genetic information which is responsible for the function and development of organisms

Developmental delay: when skills and abilities developed by a certain age are delayed in individuals

Differential: one or more conditions that could be the cause of an individual’s problem. Differential diagnoses for PURA syndrome are listed in the Diagnosis section of PURA 101.

Dynamic Ankle-foot orthosis (DAFO) – Same as an AFO (link to AFO) except with thinner, more flexible material and a hinge, all to encourage range of motion

Dystonia: a movement disorder when muscles move involuntary, causing  muscle cramps/spasms

Dysphagia: Difficulty swallowing

 

E

Electroencephalogram (EEG): a test that measures and records brain waves

Electronic communication device: a computer chip based communication system that contains words or phrases designed for the user of the device. Pictures, small objects, or words can be placed on the device as cues to where messages are located.

Epilepsy: recurring seizures, not including seizures caused solely by fever

Epileptiform patterns: patterns resembling those of a seizure

Equilibrium: balance

Etiology: cause

Exon: an area of RNA that encodes a portion of a protein

Expressive language: communication that is conveyed to others

 

F

Febrile seizure: A seizure triggered by fever in a young child (typically 6 months to 5 years) without a CNS infection or prior neurological cause. Usually brief and generally benign.

Fine motor coordination: using small muscles to accomplish tasks requiring precision

Flexion: bending a joint so the bones forming it are brought toward each other

Flexor: a muscle whose primary function is flexion at a joint

Focal seizure: A seizure that starts in one area or network on one side of the brain. Symptoms depend on the region involved, and awareness may be preserved or impaired.

Focal to bilateral TC seizure: A seizure that begins in one area of the brain and then spreads to both sides, becoming a tonic-clonic seizure. Formerly called “secondarily generalized.”

G

Gagging: rhythmic movements of the back of the mouth (voluntary or involuntary) near the epiglottis; they protect the airway from a bolus and are usually triggered by food that does not trigger the swallowing reflex near the back of the tongue.

Gait: style or manner of walking

Gastroesophageal reflux disease (GER): when stomach contents from the stomach flow backwards into the esophagus.

Gastroenterologist: a doctor who specializes in disorders of digestion

Gastrostomy (G-tube): an artificial opening into the stomach through the wall of the abdomen. This requires a surgical procedure.

Gene: a section of DNA that contains information to create proteins or molecules

Generalized seizure: a seizure involving the entire brain

Gene therapy: altering genes in living individuals via the administration of specific regions of DNA

Genotype: genetic makeup of an individual

GI: gastrointestinal

Global: affecting all areas, e.g., global developmental delays

Gonadal Mosaicism – This is when a parent carries a genetic change, but it is limited to a small cluster of egg or sperm cells. The genetic change would not, therefore, be detected on this parent’s blood test. For specific advice about the chance of this happening again, it would be sensible to speak to a clinical geneticist or genetic counselor. 

Grand mal: a form of seizure where there is a sudden loss of consciousness immediately followed by a generalized convulsion (old term for tonic-clonic).

Gross motor coordination: the ability for an individual to use the large muscles in a coordinated, purposeful manner to participate in such activities as walking and running

H

Habilitation: teaching an individual new skills

Head circumference: the size of an individual’s head, which can be plotted on a growth curve to compare with other individuals the same age

Heredity: the transfer of characteristics from parents to offspring by way of genes

Hiccups – involuntary contractions of the diaphragm followed by a sudden closure of your vocal cords, which produces the characteristic “hic” sound

Hip dislocation: occurs when the ball is completely pulled out of the socket of the hip joint

Hippotherapy: therapeutic horseback riding

Hip subluxation: when the ball is partially pulled out of the socket of the hip joint

Human genome: all of the DNA that makes up the entire set of chromosomes in one set of human chromosomes

Hydrotherapy: water therapy, also known as aqua therapy, usually taking place in a whirlpool bath or warm pool

Hypersomnolence – excessive sleepiness

Hypertonia: high muscle tone, muscle tightness, or spasticity

Hypotonia: low muscle tone, implying a certain amount of looseness or floppiness of joints. Not to be confused with muscle strength.

Hypoxia: oxygen content reduction in body tissues

I

Idiopathic: of unknown cause

Incidence: in a given population, the number of cases of something over a specific time period

Incontinence: absence or loss of bowel or bladder control

Intellectual Disability: (also known as Cognitive disability) a term used to describe individuals with limitations in mental functioning

In utero: before birth. 

K

Ketogenic diet: a diet which provides most of the calories from fats,  the minimal amount of protein necessary for growth, and no carbohydrates. This diet has been used in seizure control but is not proven to be effective in all patients. 

 

M

Magnetic resonance imaging (MRI): imaging procedure that provides clear images on interior parts of the body via magnetic resonance of atoms.

Music therapy: using music to teach non-music skills, such as communication, socialization, choice-making, and motor skills. 

Mutation: an alteration in a gene, such as deletion, addition, or substitution of genetic material that changes its function or expression. This change continues to be passed along with further divisions of the affected cell. Gene mutations can occur randomly for unknown reasons or can be inherited.

Myoclonic: involuntary twitching or jerking of muscles

Myoclonic seizure: A sudden, very brief, shock-like jerk of a muscle or group of muscles.

Myopathy: condition affecting the muscle tissue

 

N 

Nasogastric tube (Ng tube): a feeding tube placed through the nose down the esophagus and into the stomach for introduction of foods

Neurologist: a physician trained in the diagnosis and treatment of disease of the nerves and nervous system

Neuropathy: a disease of the peripheral nerves that causes weakness and numbness.

Nystagmus: rapid involuntary movements of the eyes

 

O

Obstructive Sleep Apnea – This type of apnea occurs when your throat muscles intermittently relax and block your airway during sleep causing your breathing to repeatedly stop and start.

Occupational therapy: the purpose of treatment by this type of therapist is to improve an individual’s ability to integrate different mental and motor processes in a purposeful and/or efficient manner. These therapists concentrate on promoting, maintaining or restoring use of the body for daily living skills and often focus on fine motor skills of the individual.

Ophthalmological: relating to the eye

Orthopedic: relating to bones or joints

Orthosis: an orthopedic device used to support, align, prevent, or prevent/correct deformities or to improve the functioning of movable parts of the body.

Osteotomy: surgical cutting and realignment of the bone; can be used for hip subluxation.

P

Palmar grasp: an immature hand movement in which an individual uses their palm rather than the fingertips makes contact with an object

Palpebral Fissures – distance between the inner and outer corners of the eye

Petit mal: former term for absence seizures

Phenotype: the clinical appearance of an individual

Physical/Physio therapy:  the purpose of treatment by this type of therapist is to improve an individual’s motor skills and increase the strength and endurance of their body parts

Pincer grasp: a refined, mature hand movement where the thumb and first finger are used to pick up a small object

Prenatal: before birth

Protein: a class of long, chainlike molecules which have many functions in the cell such as controlling the rate of chemical reactions; structural elements to provide the cell with its shape; cell movement and in the formation of cell walls, membranes and protective shells; and some also help package DNA molecules into chromosomes.

Positioning: the physical management of posture and body alignment for daily living

Prevalence: the number of cases of something in a population at any given time

Prognosis: an outlook on what is likely to happen

Pronation: turned inward, for example turning your ankle inward as you walk

Prone stander: a piece of adaptive equipment that holds an individual upright in a standing position. 

Pulmonary: regarding the lungs

 

R

Range of motion: measured in degrees, the amount of movement available in an individual’s joint

Receptive language: communication that is received by an individual

Reflex/startle seizure: A seizure reliably triggered by a specific stimulus, such as flashing lights, a sudden noise, or being startled.

Rigidity: abnormal stiffness of muscle

 

S

Salivation: the secretion of saliva by the salivary glands of the mouth. This can be increased in response to the chewing action of the jaws or to the thought, taste, sight, or smell of food.

Scoliosis: an abnormal curvature of the spine

Seizure: a sudden, electrical discharge of nerve cells in the brain which results in alteration of function or behavior

Simple partial seizures: seizures that  involve a single area of the brain

Spasms (epileptic spasms): Sudden flexion or extension of the trunk, arms, and legs, often occurring in clusters. Typical of infantile epileptic spasms syndrome (formerly infantile spasms or West syndrome).

Sporadic: occurs by chance, little chance of recurrence

Spastic: an increase in muscle tone which causes muscles to remain still and movements are difficult

Strabismus: an abnormal alignment of the eye due to an imbalance of the muscles of the eyeball

Subluxation: partial dislocation

Supination: turned outward, for example rolling your ankle outward as you walk

Supramalleolar Othorsis (SMO) – A foot and ankle brace

 

T

Temperature instability – your body’s inability to keep the proper temperature

Thoracic-Lumbar-Sacral Orthosis (TLSO), see also Body Jacket – A brace used to limit motion in the thoracic, lumbar and sacral regions of the spine

Tonic: continuous, increased muscle tone

Tonic seizure: Sudden sustained stiffening or tensing of the muscles, lasting seconds to a minute. It can cause falls if the person is standing.

Tonic-clonic seizures: seizures associated with stiffening followed by rhythmic jerking (once called grand mal seizures).

Tongue thrust: an oral-motor feeding problem where voluntary tongue motions are not controlled, the tongue extends in front of the lips when touched with a spoon or food, or the tongue interferes with moving food from the front of the mouth to the back for swallowing.

Transitional movements: movements that allow individuals to change position

Treatment: medical care that causes a reduction in clinical symptoms which improve the medical/cognitive outcome of a disorder

  

V

 Video EEG: using video cameras to visually capture the onset and characteristics of seizures while monitoring the EEG to see electrical changes at the same time.

Vitamin D deficiency – A necessary vitamin your body needs for building and maintaining healthy bones is Vitamin D. It also helps support immune health, muscle function and brain cell activity. A deficiency in Vitamin D can affect all of these important functions so a supplement may be necessary.

 

W 

Weight shift: the movement of the body’s center of gravity in any direction

Whole exome sequencing (WES): A genetic test that reads the protein-coding regions (exons) of nearly all of a person’s genes, about 1-2% of the genome. It’s used to find disease-causing variants.