Childhood Dx Flashcards
Cardiac conditions - 4 major congenital malformations
- Atrial septal defect (ASD)
- Ventricular septal defect (VSD)
- Tetralogy of Fallot (TOF)
- Transposition of the great vessels (TGV)
Cardiac conditions - symptoms? (5)
Low endurance Poor vital capacity Insufficient respiratory support Failure to thrive OT concern - feeding probs
Effects of ASD & VSD
Wet lungs - increase blood to lungs
4 conditions of tetralogy of Fallot
“PROV”
- Pulmonary valve stenosis
- R ventricular hypertrophy
- Overriding aorta (difficult for blood to get through pulmonary stenosis, so goes back out aorta instead)
- Ventricular septal defect
Trisomy 21
Down Syndrome
Symptoms of Down Syndrome (7)
Intellectual disability Hypotonic Hyper mobile joints Common facial features Short & stalky Simian crease Atlantoaxial instability
Trisomy 18
Edward’s syndrome
Symptoms of Edward’s syndrome (5)
Rare Severe intellectual disability Failure to thrive Syndactyly Death before 1yr
Trisomy 13
Patau’s syndrome
Symptoms of Patau’s syndrome (5)
Rare Severe intellectual disability Microcephaly Cleft palate & lip Sometimes seizures
Klinefelter’s syndrome (7 symptoms)
XXY - only males Tall & thin Small genitalia Learning disabilities Depressed IQ Emotional probs Coordination probs
Tay Sachs (describe)
Normal development until 6mos, then severe regression. Death @ 3yrs.
Lesch-Nyhan syndrome (4 symptoms)
Progressive neurological disorder in boys
Choreoathetoid mvmt
Severe SIB (self injurious behaviors)
Death before 20yrs
Define learning disability
Difficulty in processing information effectively to master school related tasks (reading, math, writing, reasoning, use of language)
Language or non-verbal
Normal intelligence
Non verbal learning disability
Performance IQ below verbal IQ - difficulty organizing work, completing assignments etc.
Developmental coordination disorder
Impairments in motor coordination affect school or daily living skill performance
Pervasive developmental disorder (PDD) (3)
Autism
Asperger’s
PDD-NOS
Attention deficient/hyperactivity disorder (ADHD) (9)
Inattention Hyperactivity Impulsivity Distracted Forgetful Fidget Excessive talking Impatient Low frustration tolerance
ADHD OT tx
Modify environment
Minimize distractions/sensory input
Patent support
Spina bifida occulta
Vertebral arch not completely formed
Spina bifida cystica
Vertebral arch not completely formed & a cyst is present at birth (meningocele or myelomeningocele)
Meningocele
Only meninges affected - no neurological affects
Myelomeningocele (7)
Cyst involves meninges & spinal cord - neurological deficits present:
- Increased intracranial pressure
- Compression of cranial nerves that coordinate swallowing
- P-V shunt may be indicated - drain CSF from ventricles to perineal area
- Intracranial pressure can cause death
- May have learning disabilities & visual perceptual deficits
- Orthopedic probs - spasticity or flaccidity
- Bowel/bladder probs
Arnold-chiari syndrome
2nd to myelomeningocele - cerebellum slips into foreman magnum, blocks CSF flow - hydrocephalus
OT for myelomeningocele
Motor/sensory: deficits below level of lesion - paralysis
Orthopedic: scoliosis, kyphosis, lordosis - light weight bracing, casting, ortho shoes, AD for ambulation
Spinal muscular atrophy - 4 types
- Werding-Hoffman
- Chronic infantile SMA
- Kuhelburg-Welander
- Adult SMA
OT for spinal muscular dystrophy
Play & feeding
Werding-Hoffman SMA (6)
Weak at birth Weak cry respiratory probs Hypotonia Poor feeding Death 2-3yrs
Chronic infantile SMA (5)
Normal 4-6mos Life expectancy not past early adult Flaccid paralysis Sit, no walk or stand Progressive skeletal deformities
Kugelburg-Welander SMA
Less severe, later onset
Walk as children but wc by adulthood
Survive into adulthood but worry about respiratory probs
Adult SMA
Least severe - no change in life expectancy
Weakness in late adolescence (starts in tongue, hands/feet)
Emotional disorders (4)
- Reactive attachment disorder
- Separation anxiety disorder
- Oppositional defiant disorder
- Feeding disorders
Juvenile rheumatoid arthritis (3 forms)
- Pauciarticular: asymmetrical, affects fewer than 5 joints (knees hips ankles elbows)
- Polyarticular: onset abrupt & painful 5-40 joints affected, symmetrical involvement. Low grade fever, malaise, irritability.
- Systemic: polyarticular symptoms plus involvement of organs
JRA facts (3)
Most children recover 1-2yrz
Onset 2-4yrs old
More common in girls
JRA general features (10)
Joint inflammation Joint contracture Joint damage Change/alteration in growth Stiffness after rest Decreased activity Weakness if muscle/other soft tissue Decreased ROM Pain Fatigue
Marfan’s
Aka arachnodactyly Excessive growth in epiphyseal plate - long fingers, skull asymmetry, joints, issues with eyes, aorta, heart Scoliosis Coxa Vera - hip deformity - limp Fragile blood vessels
Achondroplasia/chondrodystropia
Dwarfism
Skeletal abnormalities: lumbar lordosis, coxa vera, cubitus varus (forearm deviates toward midline)
Osteogenesis imperfecta (3)
“Brittle bones”
Unusually weak bones, harden with age
Fetal: high mortality
Infantile: fx early in childhood - limb deformities, growth disturbances
Juvenile: fx in late childhood - dental probs
Osteogenesis imperfecta - OT concerns
Parent education Handling difficult Ex changing diaper - roll to side instead of lift Pads & orthoses Surgery - metal rods Monitored exercise programs
Hand anomalies (3)
- Polydactyly - excessive fingers/toes
- Syndaxtyly - webbed fingers/toes
- Bradydactyly or microdactyly - excessive large or small digits
Amelia
Absence of limb/distal segment of limb
Phocomelia
Fully formed distal extremity but missing proximal portion
Paraxial deficits
Proximal segment of limb correct, medial or lateral side missing
Transverse hemimelia
Amputation of a segment across central area
Arthrogyposis
Congenital joint contractures in 2+ areas of the body - leads to multiple deformities
Cerebral palsy - general definition
Nonprogressive abnormalities in the developing brain that create a cascade of neurological, motor, & postural deficits
Often compounded with cognitive, sensory & psychosocial deficits
Causes of CP (3 general)
- Premature birth
- Brain insult in utero (CVA, hemorrhage, infarction, enviro toxins)
- Acquired CP (trauma after birth, near drowning, metabolic disorder, etc)
Types of CP (5)
- Spastic - increased muscle tone
- Dyskinetic - athetoid (involuntary mvmt in extremities) or dystonic (trunk muscles affected)
- Ataxic - impaired balance & coordination
- Rigidity - increased resistance in all directions
- Mixed - spastic & non-spastic symptoms
Erb’s Palsy (SC level & symptoms)
C5 & C6
Probs with elbow & shoulder
Klumpke’s Palsy (SC level & symptoms)
C8 & T1
Probs with intrinsics if hand
Limb girdle dystrophy (sympts & onset)
Muscle dystrophy
Affects proximal muscles of pelvis/shoulder
Onset 10-30yrs
Facioscapulohumeral muscular dystrophy
Affects face, scapula & upper arms
Inability to raise arms
Decreased facial mvmt
Duchenne’s muscular dystrophy
Most common & severe
X-linked so affects boys
Onset 2-6yrs
Symptoms - difficulty climbing stairs, get up from lying, stumbles/falls easily, fatigues
Enlargement of calf, forearm, & thigh (adipose)
Gower’s sign - “crawls” into standing
W/c dependent by 9yrs, lose ADL ability due to contractures
Death by 20’s - resp., cardiac probs
OT intervention - hearing impairment (4)
- Encourage sensory play
- Encourage age-appropriate ADL skills
- Encourage FM & hand coordination
- Encourage socialization
OT intervention - visual impairment (10)
- Develop appropriate ADL skills
- Enhance sensory integration
- Encourage mvmt in space
- Develop tactile perceptual abilities
- Decrease tactile hypersensitivity
- Encourage FM & hand coordination skills
- Encourage body awareness
- Encourage development of directionality
- Provide education & consultation
- Maximize residual vision
