Term
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Definition
X chromosome mutation
most frequent cause of mental retardation, after Down’s
X linked form of mental retardation |
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Term
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Definition
deletion of an X chromosome
only females
short stature;
normal intelligence
Tx: growth hormone & estrogen |
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Definition
short-limbed dwarfism
autosomal dominant
usually normal intelligence |
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Definition
spider-like limbs & fingers
usually normal IQ
Tx: symptomatic |
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Definition
most common neurocutaneous syndrome
90% have seizures
Tx: seizure control most important |
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Term
| Klinefelter (XXY) Syndrome |
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Definition
at least one extra X chromosome
males only
tall, slim stature
Tx: Testosterone |
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Term
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Definition
enzyme deficiency that usually breaks down lipids in the cells
progressive neurological D/O |
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Term
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Definition
| thick, sticky mucous that clogs the lungs |
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Definition
X-linked
error of purine metabolism
severe self-injurious Bx
Tx: allopurinol |
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Definition
error of amino acid metabolism
Tx: Phenylalanine restricted die |
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Term
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Definition
| port-wine stain, seizures; cognitive dysfunction in the region of the brain associated with the blood vessel abnormality; Tx: may surgically remove portion of the brain affected by blood vessel abnormality |
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Definition
| mutation causing enzyme deficiency |
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Term
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Definition
| central neurofibromatosis; tumors affecting hearing & balance |
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Term
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Definition
| periphereal nervous system tumors |
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Term
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Definition
most severe PDD—social & behavioral problems—
Tx: symptomatic, multimodal |
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Term
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Definition
Hyperactivity, impulsivity, attention deficit
TX: Multimodal |
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Term
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Definition
genetic—mental retardation
congenital heart disease—
TX: symptomatic |
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Term
Part of brain controlling:
Satiety |
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Definition
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Term
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Definition
| -- a severe anemia that develops in an unborn infant because the mother produces antibodies that attack the fetus' red blood cells. The antibodies are usually caused by Rh incompatibility between the mother’s blood type and that of the fetus |
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Definition
| Any agent that can cause a malformation of an embryo or fetus |
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Definition
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Term
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Definition
| one of 46 (usually) bodies in cell nucleus bearing genes??? |
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Term
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Definition
| first 22 pairs of chromosomes are these |
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Term
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Definition
| Last (23rd) pair of chromosomes determine sex XX f, or XY m |
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Term
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Definition
non-reductive cell division
each resulting cell contains 46 chromosomes |
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Term
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Definition
Reductive cell-division
each resulting cell contains 23 chromosomes
Only occurs in germ cells resulting in sperm or eggs |
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Term
| Dominant inheritance and transmission |
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Definition
only one of the alleles need to carry a disorder for a child to manifest it, this results in a 50/50 chance of a child having the disorder
--manifests as a physical abnormality |
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Term
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Definition
both parents must carry the abnormal allele for a child to manifest a recessive trait—only a 1 in 4 chance of manifesting the disorder, but a 50/50 chance of being a carrier
--manifests as an enzymatic defect |
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Term
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Definition
| phenylketonuria diet—very low protein foods, no cheese or meats—early adoption can avoid mental retardation in a child with PKU |
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Term
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Definition
| different cells have a different genetic makeup—for instance, a child with Trisomy 21 may have it in the blood cells, but not the skin cells—it often appears as if they have the condition, though the physical features and cognitive impairments may not be as severe |
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Term
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Definition
Spastic
Dyskinetic
Ataxic
Mixed |
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Term
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Definition
| most common type; spastic hemiplegia, spastic diplegia, spastic quadraplegia |
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Term
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Definition
| abnormal involuntary movement, which may disappear during sleep—writhing movement—muscle tone is mixed, too loose sometimes, too tight others |
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Term
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Definition
Abnormalities of voluntary movement
Cerebellum involved |
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Term
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Definition
More than one type of motor pattern
No one pattern predominates |
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Definition
Asymetrical Tonic Neck Reflex
Moro Reflex
Positional Support Reflex |
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Term
| Asymetrical Tonic Neck Reflex |
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Definition
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Term
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Definition
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Term
| Positional Support Reflex |
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Definition
| infant is bounced, the legs straighten to support weight |
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Term
| Behavior Management Techniques |
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Definition
Least Restrictive
Atecedent Behavior Consequence (ABC)
Functional Equivalence
Reinforcement - Positve/Negative
Shaping
Fading
Graduated Guidance
Modeling |
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Term
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Definition
Most effective
Fewest restraints |
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Term
Antecedent Behavior Consequence
ABC |
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Definition
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Term
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Definition
| Substituting acceptable Bx for unacceptable Bx |
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Term
Reinforcement
Negative/Positive |
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Definition
| Serves to reinforce likelihood of Bx re-occurring |
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Term
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Definition
A positive or desired consequence is achieved as a result of a behavior
increases probability of reoccurrence |
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Term
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Definition
A negative or undesired consequence is removed as a result of the behavior
Increases probability of reoccurence |
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Definition
| Successive approximations towards a goal |
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Definition
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Definition
| Only the minimum guidance needed is provided |
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Definition
| Physically performing the desired task while client observes |
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Term
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Definition
manipulating a person to complete an undesirable task, by couipling the task with a desired reward
"You can have your pudding , only if you eat your veggies!" |
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Term
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Definition
Planned ignoring of undesired Bx
Consistent ingnoring of non-dangerous, non-destructive Bx
Usually results in decline of negative Bx |
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Term
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Definition
| Bx increases dramatically just prior to extinction |
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Term
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Definition
| making DD's life as "normal" as possible |
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Term
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Definition
| Educating DD's in gen ed classrooms as much as possible |
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Term
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Definition
Created regional center in California only
DD and families have rights to needed supports and services |
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Term
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Definition
Generalized - Entire Brain Cortex
Partial - Starts at focal point, may spread to whole brain |
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Term
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Definition
Entire Cortex of Braion
Loss of Consciousness always
40% of all seizures
multiple types of Generalized Seizures |
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Term
| Types of Generalized Seizures |
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Definition
Absence
Tonic
Clonic
Tonic/Clonic
Atonic
Infantile Spasm |
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Term
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Definition
Generalized
Person stops alla ctivity
Glazed look
cannot be interrupted
TX: Ethosuximide (Zarantine) |
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Term
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Definition
generalized
Hypertoned
Arms sticking straight out |
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Term
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Definition
Generalized
Rythmic jerking |
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Term
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Definition
Generalized
Rigid then Jerking |
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Term
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Definition
Generalized
Drop-Attack
Muscles lose tone
person drops face first |
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Term
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Definition
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Term
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Definition
Begins in single location
May become generalized
S/Sx depend on location of focal point
Motor Cortex seizure--Rythmic clonic activity of face, arm, leg |
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Term
| Seizure Emergency response |
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Definition
NPO
Time and Observe seizure
Maintain safety
Expect post-ictal confusion
losen restrictive clothing
Notify EMS |
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Term
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Definition
Diet for seizures
High fat; Low Protein
Brain must use fats for energy, changes neurotransmitters |
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Term
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Definition
Phenytoin (Dilantin)
Carbemazepine (Tegretol) Tonic/Clonic
Primidone (Mysoline)
Valproic Acid (Depakote)
Ethosuximide (Zarontin) Absence Seizures
Gabapentin (Neurontin)
Diazepam (Valium) |
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Term
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Definition
Hyperpyrexia-elevated brain temp
CNS Infections
Metabolic Disturbances |
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Term
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Definition
Created by Lanterman Act
Deinstitutionalized DD's
Alternative to state hospitals |
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Term
| Premature Infant medical problems |
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Definition
Respiratory - Hyaline Membrane Disease (poor surfactant)
Neurological
Cardiovascular - PDA
Gastro Intestinal
Opthalmologic
Immunologic
Hyperbilirubinemia |
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Term
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Definition
Skin and CNS
Tuberous Sclerosis
Neurofibromatosis |
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