Syndromes Flashcards
What is a syndrome
A group of s/s that occur together and characterize a particular abnormality or condition
TAR stands for what
thrombocytopenia with absent radius syndrome
what is thrombocytopenia
Low blood platelets
s/s TAR syndrome
Thrmbocytopenia
Absent radius
Additional abnormalities
Normal intelligence
s/s TAR syndrome - additional abnormalities
Lower leg, hip subluxation, patellar subluxation, abnormal fusion of bones
TAR syndrome - PT
When platelet levels are low - be careful with jarring movements because can get micro tears
Main goal is function- address development issues associated with short orthopedic issues, placement issues
Noonan Syndrome s/s
Wide set eyes Distinctive nose Deep philtrum Short/Webbed neck Low hairline Visual spatial deficits Motor hypotonia Hearing defects Pulmonary stenosis - poor circulation and low O2 Normal IQ for many
Noonan Syndrome - s/s - motor hypotonia
Delays in motor skill acquisition Difficulty obtaining new skills Difficulty with speech, feeding Strength is a major deficit Strength and mm mass does not line up - key for early intervention
What is Rett Syndrome
Degenerative genetic disorder
MECP2 gene
Predominantly girls (only 7 known boys)
Rett Syndrome - typical progression
Early typical development
Regression phase - significant decline in motor function
Plateau/Stationary phase
Late motor deterioration
Rett Syndrome - what is key with these patients
Ambulation - maintaining the ambulation skills will increase life expectancy and QOL
Rett Syndrome - PT
Maintain function Maintain mobility Consider QOL factors/activities Communication Comfort Seizure activity can fluctuate and may impact ability to attend PT
Fetal Alcohol Syndrome - description
Preventable
Non progressive
Leads to developmental delays - physical and behavioral
Fetal Alcohol Syndrome - Historical perspective
Aristotle said alcohol in the fetus was not going to be good
Term FAS coined in 1973
2001 - low doses can cause adverse effects
FAS - etiology - theories
Excessive cell death Growth factors and adhesion molecules Free radicals Prosaglandins and metabolic molecules Altered gene expression
Spectrum of clinical symptoms - FAS
Mental deficiency Learning disability ADD, ADHD Poor memory and recall Poor compliance Poor planning and impulsivity Abstraction difficulties Learning disability
FAS - physical characteristics
Limb and facial abnormalities Crease differences Cardiac - ASD, VSD, Truncus abnormalities, tetralogy of fallot Small genitalia Ocular Skeletal Auditory
FAS - Risk of exposure by term
CNS is impacted throughout
Everything else depends on time period
FAS - Diagnosis - CDC criteria
All 3 facial abnormalities
Growth deficits
CNS or neuro disorders
Rule out other possible diagnosis
FAS - Facial Abnormalities
Smooth philtrum - lip guide 4 or 5
Thin vermilion
Palpebral fissures (less than 10th percentile)
FAS and the brain - IQ at 8 years
Heavy prenatal alcohol exposure with or without the physical features of FAS still lead to IQ deficits in children compared to normal controls
Care management - providers involved in care of syndromes
PCP Geneticist Neurologist Dysmorphologist Developmental specialist Social worker Therapy services Psychologist Orthopedist Orthotist
Care management - Early childhood
Early intervention is key
Family support - help them think of the future
Adaptations for ADLs
Support for intellectual disability
Case management - services into adulthood - help families
Consider future living situations
Connect with other families
Understand community resources available
Set realistic expectations while promoting being the best they can be
Case management - Adolescence and Adulthood
Refer to other providers as seem necessary - counseling, social work, job training
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