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Conditions Quiz 1
OTD Conditions Quiz 1
71
Other
Graduate
01/22/2018

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Term
Developmental delay:
Definition
refers to a significant lag in the attainment of milestones in one or more areas of development; milestones attained in typical sequence but at a slower rate
Term
Developmental quotient (DQ)
Definition
is a ratio of developmental age divided by chronological age and multiplied by 100 to obtain percentage→ DQ= DA/CA x 100
Term
Developmental dissociation:
Definition
a significant difference in developmental rates between two of the major areas of development
Term
asynchrony→
Definition
one or more areas of development being significantly out of phase with other areas
Term
Developmental deviance:
Definition
nonsequential unevenness in the achievement of milestones within one or more streams of development
Term
Global developmental delay:
Definition
significant delays in two or more of the following domains (gross motor/fine motor, speech/language, cognition, social/personal, and ADLs)
Term
Dysarthria:
Definition
motor speech disorder, result of paralysis, muscle weakness or poor coordination, intrinsically qualitatively abnormal and may also be considered to be an example of developmental deviance
Term
Developmental regression:
Definition
the loss of previously attained milestones
Term
Syphilis, Toxoplasmosis, Other, Rubella, Congenital cytomegalovirus, Herpes
Definition
STORCH Infections stands for...
Term
chicken pox, hepatitis, enterovirus, parvovirus, Syphilis, Toxoplasmosis, Other, Rubella, Congenital cytomegalovirus, Herpes
Definition
CHEAP TORCHES includes...
Term
Disability:
Definition
“a decrement in the ability to perform some action, activity, or participate in a real life setting”
Term
Etiological diagnosis:
Definition
a type of diagnosis with a known cause; a genetic test for e.g., can point to problem on MRI/bloodwork/test
Term
Disability diagnosis:
Definition
a type of diagnosis that has functional implications, gets kids services, more impactful, changes based on functional implication down the road
Term
Development:
Definition
anything that changes over time, most often describes organic process of change
Term
Developmental disabilities:
Definition
conditions that are first recognized as departures from an expected pattern of development in early childhood
Term
delay, deviate, dissociate
Definition
3 types of developmental disabilities
Term
Congenital CMV:
Definition
a virus that is spread through saliva, mucus, and urine, often goes undetected with few/no symptoms
Term
Congenital CMV
Definition
Children borth with this may develop permanent medical conditions and disabilities such as:
Deafness
Blindness
Cerebral palsy
Mental and physical disabilities
Seizures
Death
Term
mosaicism, translocation, chromosomal deletion, nondisjunction
Definition
4 Types of genetic errors:
Term
Mosaic genetic error
Definition
Genetic error where the presence of two genetically distinct types of cells in one individual
-The genetic error is only present in some of the different types of cells in the individual
Term
Translocation
Definition
Genetic error in which a segment on one chromosome gets transferred into the wrong place during the process of cell division
Term
Chromosomal deletion
Definition
Genetic error where chromosome gets lost during the process of cell division (it gets lost, does not end up where it is supposed to be or anywhere else)
Term
Nondisjunction
Definition
Genetic error where the failure to pair chromosomes to two separate chromosomes
-End up with an unequal number or distribution in the daughter cells
Term

 

  • spontaneous vaginal deliveries (“normal”), forceps, vacuum devices, cesarean, dystocia (“abnormal”)

Definition
Types of deliveries (5)
Term
maternal diabetes (poor glucose control→ hypoglycemia in infant), hypertension, trauma, preterm labor, preterm membrane rupture, perinatal infections, multiple gestations, abnormal presentations, hydrocephalus
Definition
Complications of Birth include (9)
Term

 

    •  

      • HR

      • Respiratory effort

      • Muscle tone

      • Reflex irritability

      • Color

        7
Definition

Apgar Scores based on 5 domains:

 

What is a "normal" apgar?

Term
Osteogenesis imperfecta (OI)
-Autosomal dominant
Definition
- error in collagen development associated with multiple fractures
Term
Ectodactyly
-Autosomal dominant
Definition
Cleft hand or cleft foot in which two or more digits are fused, creating a central opening
Term
Polydactyly
-Autosomal dominant
Definition
Extra digits on hand or foot
Term
Neurofibromatosis
-Autosomal dominant
Definition
Slowly progressive disease, increasing # of tumors as age, usually dx in toddlerhood, 3% with ID, 30% with SLDs
Term
:)
Definition
Literature shows that scores less than 5 may have an increased risk of developmental delays
Term
37
Definition
Premature Birth happens when a baby is born at how many weeks?
Term
37-39
Definition
Late Pre-Term births are at how many weeks gestation?
Term
Intraventricular hemorrhage (IVH):
Definition

 

    • bleeding in the brain, often grade 1 & 2 resolve with no effect

Term
Type 1:
Definition
Type of OI where bones fracture easily, slightly shorter stature, dental problems, hearing loss beginning at age 20-30, spinal curvatures
Term
Type 2:
Definition
Type of OI where newborn severely affected, often lethal, small chest
Term
Type 3 (only recessive type):
Definition
Type of OI where very small, fractures at birth common, severe early hearing loss, loose joints, poor muscle development
Term
Type 4:
Definition
Type of OI where easily fractures before puberty, loose joints
Term
Type 1:
Definition
Type of Neurofibromatosis where multiple cafe au lait spots, scoliosis, glaucoma, tumors under skin, ADHD, pseudoarthrosis (false joint)
Term
Type 2:
Definition
Type of Neurofibromatosis in which acoustic neuromas, meningioma, neuropathy, deafness, cataracts
Term

 

      • Grade 1: hemorrhage in germinal matrix

      • Grade 2: bleeding within ventricle

      • Grade 3: bleeding with ventricular dilation

      • Grade 4: bleeding extends into parenchyma→ most need help with mobility, walker type device

Definition

 

      • Grade 1:

      • Grade 2:

      • Grade 3:

      • Grade 4:

 

Grades of Hemorrhage

Term
Periventricular leukomalacia (PVL):
Definition
necrosis of white matter surrounding lateral ventricles secondary to decreased 02 and blood flow→ usually results in spastic diplegia or quadriplegia
Term
Cystic Fibrosis
-Autosomal Recessive
Definition
Progressive, hyperplasia of mucous producing cells in lungs, pancreatic insufficiency, barrel chest, nutritional status usually compromised
Term
Sickle cell disease
-Autosomal Recessive
Definition
Blood disorder causing anemia due to defect in hemoglobin, decreased life span, mostly in African descent, weakness, pain, slow growth
Term
Tay-Sachs Disease
-Autosomal Recessive
Definition
Most often in Jewish descent, progressive neurologic disorder, deafness, blindness, seizures
Term
Spinal Muscular Atrophy (SMA)
-Autosomal Recessive
Definition
Anterior horn cell degeneration, flaccid paralysis, muscle biopsy and EMG results confirm, intelligence/social/sensation all unaffected
Term

1. Respiratory Distress Syndrome (RDS)

2. BPD chronic lung disease:

3. Apnea

 

Definition
    •  

      • Major complications of prematurity: respiratory conditions

      • 1. 20% of all premature infants within first 2 days

        • Caused by immaturity of lungs and decreased surfactant

    • 2. due to long term need for mechanical ventilation

3. lack of breathing for 20 seconds or more

Term
Type 1:
Definition
Type of SMA in which survival beyond age 3 is rare, proximal symmetric weakness followed by respiratory and feeding difficulties
Term
Type 2:
Definition
Type of SMA in which similar pattern but slower progression and more optimistic prognosis
Term
Type 3:
Definition
Type of SMA in which mild progressive weakness evident between ages 2-17
Term

1. Patent Ductus Arteriosus

2. Bradycardia:

 

Definition

 

  • cardiac conditions

    • 1: lack of closure of the ductus arteriosus (connection between pulmonary artery and aorta)

    • 2. slowing of HR to less than 100 BPM associated with apnea

Term
  • GER

  • Hyperbilirubinemia: immature liver

  • Kernicterus: bilirubin accumulates in basal ganglia, can lead to athetoid CP

  • Necrotizing enterocolitis (NEC): infection in GI tract, 2-5% of VLBW infants, mortality rate 20%

    • 50% require surgery to remove portions of bowel

Definition

 

  • Major complications of prematurity: system immaturity (4)

Term
Rett Syndrome
Definition
Present in females only, lethal to male fetus, gradual loss of cognitive communication and motor skills, deceleration of head growth, hypotonia and ataxia after 6mos, mouthing, rocking, lack of eye contact, poor language
Term
Fragile X
Definition
2nd most common cause of ID in males, older paternal age associated with carrier female
Term
Duchenne Muscular Dystrophy
Limb-Girdle MD
Becker MD
Myotonic MD
Facioscapulohumeral MD
Emery-Dreifuss (EDMD)
Definition
6 types of muscular dystrophy that OT's typically see:
Term

1. Retinopathy of prematurity (ROP):

2, Hearing impairment:

3. Sensorineural hearing loss

 

 

Definition

 

  • Major complications of prematurity: Sensory Systems Problems

    • 1. contributing factor is high concentration of 02

    • 2. 2-5% very low birth weight infants

    • 3. damage to cochlea can be due to antibiotics required to prevent sepsis

Term
Duchenne, Becker, Emery-Dreifuss
Definition
Types of MD that are X-linked recessive (mother→ son):
Term
Emery-Dreifuss, limb-girdle, oculopharyngeal, distal, congenital
Definition
Types of MD that are Autosomal recessive (both parents):
Term
Emery-Dreifuss, limb-girdle, facioscapulohumeral, myotonic, oculopharyngeal, distal, congenital
Definition
Types of MD that are Autosomal dominant (one parent affected gene, one parent normal gene):
Term
motor, cognitive, and neurobehavioral
Definition
Three primary streams of development:
Term
Motor:
Definition
Type of stream of development that includes: gross, fine, oral motor function
Term
Cognitive:
Definition
Type of stream of development that includes: receptive and expressive language abilities, nonlanguage cognition (problem-solving)
Term
Neurobehavioral:
Definition
Type of stream of development that includes: social and emotional behavior, self-regulation, mental status (reciprocal social interaction, impulse control, attention, interest and activities, adaptive regulation of mood and anxiety)
Term
Turner Syndrome
Definition
Girls only,
Total of 45 rather than 46 chromosomes, typical intelligence, visual-perceptual difficulties  non-verbal learning disability
Unable to reproduce, do not go through menses
Shield-shaped chest and short in stature
Lose one of the X sex chromosomes
Term
Cri-du-chat
Definition
genetic disorder- short arm of chromosome 5 is lost  microcephaly, intellectual disability, round face, widely spaced eyes (picture from en.academic.ru) CHD 30%
These kiddos have a very characteristic cry
Term
Williams syndrome
Definition
Genetic disorder- deletions on chromosome 7  intellectual disability, distinctive facial appearance (elfin face), unique cognitive profile splinter (scattered) skills
Term
Angelman syndrome
Definition
Genetic disorder- maternal source
Seizures, frequent laughter, ataxia, severe ID
Term
Prader Willi syndrome
Definition
Genetic disorder-
Source of deletion is paternal
Increases with father’s age (the chances of it)
Term
Down Syndrome
Definition
47 rather than 46 chromosomes in each cell,
MR, heart defects
Term
Multifactorial disorders
Definition
Account for the majority of health defects
Small variation in genetic information combined with environmental factors: stress, toxins, allergens, diet
Partially genetic and partially environmental
Ex.- Heart disease, cancer
Term
Mitochondrial disorders
Definition
Related to disruption in oval-shaped organ cells in cytoplasm
Affected genes are structurally altered- all the mitochondria have defective energy production
Over 65 known types
Inherited from mother
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