pediatric patients with disabilities Flashcards
(58 cards)
Multisystem disorder that can affect all physical, systemic, cognitive,emotionandoculo-visualaspectsoftheindividual
down syndrome
Most commonly encountered chromosomal disorder in humans
down syndrome
prenatal screening procedures for down syndrome
◦ Low Alpha-fetoprotein of the mother ◦ Amniocentesis ◦ Chorionic villus sampling ◦ Human chorionic gonadotropin ◦ Percutaneous Umbilical Blood Sampling
Short stature, stubby hands/feet Brachycephalic skull (flat skull) Flat occiput Low set/small ears Flat nasal bridge Protruding tongue Dental Anomalies Dry skin
down syndrome physical characteristics
incidence of down syndrome
1:700 live births
Cardiac Anomalies ◦ Associated with myopia and nystagmus Skeletal anomalies Gastrointestinal tract disorders Immune system conditions Dental disease Seizures Sleep conditions Hearing impairment Thyroid conditions Weight gain Impaired reflexes IQ decreases with age Difficulty with memory
down syndrome systemic characteristics
Oblique Palpebral Fissures Broad Epicanthal folds Keratoconus Brushfield’s spots Iris hypoplasia Cataracts ◦ Snowflake ◦ Early development of age related cataracts Optic disc hyperemia Increase in blood vessels of fundus Contrast Sensitivity Anomalies Visual Perceptual Dysfunctions
down syndrome ocular characteristics
Strabismus ◦ Usuallynon-refractive ◦ Typicallyesotropiaof20-30prismdiopters Amblyopia Refractive Error ◦ Hyperopia>Myopia If myopic, tend to be highly myopic ◦ Do not go through normal emmetropization Accommodative disorders Blepharitis Keratoconus ◦ Secondary to mechanical rubbing(blepharitis) and decreased CCT and corneal rigidity Cataract Nystagmus Ptosis
down syndrome visual diagnoses
how does keratoconus develop in down syndrome?
secondary to mechanical rubbing from blepharitis (decreased cct and corneal rigidity)
◦ Occurred during the early years of life
◦ Patient presented with stiff spastic muscles in the limbs ◦ Non-progressive
◦ “Little’s Disease” now known as spastic diplegia
◦ Suggested etiology was lack of oxygen during birth
cerebral palsy
Non-progressive disorder of movement and posture caused by a lesion in the immature brain
cerebral palsy
the only acquired one
cerebral palsy
Abnormal muscle tone is the hallmark sign
◦ During the neonatal period, muscles will be hypotonic (floppy
baby syndrome), then 6-9 months later, hypertonicity will follow as antagonist muscles co-contract
Delayed motor milestones but seldom is there regression of motor function
Rarely inherited
90% develop this condition because of some type of
traumatic event prior to, at, or just after birth ◦ CP is “acquired”
cerebral palsy
70-80%,hypertonicityisthehallmarksign,accompanied by muscle stiffness, co-contraction and irritability(periventricular white matter damage)
◦ Diplegia: legs are more affected than arms
Common in preterm infants
◦ Hemiplegia: one half of body is more affected than the other ◦ Quadriplegia: whole body is affected
cerebral palsy: spastic
10-15%, slow writhing movements along with involuntary movements that interfere with normal motor function; gaze anomalies, drooling, abnormal gait(basal ganglia damage)
cerebral palsy: athetoid
hypotonicity is the hallmark sign, accompanied by problems with equilibrium, motion awareness, sense of direction and fine motor ability(cerebellar damage)
cerebral palsy: ataxic
there is mixed cerebral palsy (t/f)
t
hypotonicity is the hallmark sign, accompanied by problems with equilibrium, motion awareness, sense of direction and fine motor ability(cerebellar damage)
cerebral palsy risk factors
500,000individualsintheUShaveCerebralPalsy(CP); most common motor disability
2to4per1000livebirthsresultinanindividualhavingCP with little variation in developing countries
1per1000birthsintheUnitedStates
10% of cases are acquired, secondary to trauma
40% of individuals reach the age of 40 years, many live up
to 70 years of age
cp prevalence
Delayedmotordevelopment
◦ Contractures, increased muscle tone, retention of primitive
reflexes, positive deep tendon reflexes, oromotor anomalies, seizures, growth delays
Balance anomalies
50%ormorehaveaveragetoaboveaverage
intelligence, but can range from profound intellectual
disability to superior intelligence
Emotional, behavioral and psychological anomalies
including depression, self-injurious behavior and other forms of mental illness
cp systemic characteristics
Refractiveerror:Hyperopia>Myopia(3:1),Astigmatism Oculomotor dysfunctions of pursuits and saccades
Nystagmus
Gazelimitationsorparesis
Accommodativedysfunctions
Amblyopia
Strabismus:Esotropia=Exotropia OcularHealthConditions
◦ Optic atrophy, visual field defects, cataracts, ROP, microphthalmos, corneal anomalies, cortical blindness
Visual-perceptualdisorders
◦ Bilateral integration, laterality/directionality, visual-motor skills, visual
discrimination, visual closure, visual form constancy, visual figure ground, spatial relationships, visual memory and fine motor skills
cp visual characteristics
things to remember when examining
Positioning No sudden movement No loud, unexpected noises Speak smoothly and softly SMILE
Most commonly encountered inherited form of ID (X- linked) caused by a repeated nucleotide sequence
FMR-1 gene is very unstable and can lead to frequent mutations, therefore it has a much higher chance of mutation from generation to generation
Can be detected by chromosomal analysis
fragile x syndrome
FXS full mutation with ID is found in 1:3600 males and 1:4000-6000 females
FXS full mutation without ID is found in 1:2000 males and 1:4000 females
1:625 females carries the gene
Associated with all races, ethnicities and other
disabilities (autism, Down etc.)
fragile x syndrome prevalence
