Syndromes

Question 1

What is a syndrome

Answer 1

A group of s/s that occur together and characterize a particular abnormality or condition

Question 2

TAR stands for what

Answer 2

thrombocytopenia with absent radius syndrome

Question 3

what is thrombocytopenia

Answer 3

Low blood platelets

Question 4

s/s TAR syndrome

Answer 4

Thrmbocytopenia
Absent radius
Additional abnormalities
Normal intelligence

Question 5

s/s TAR syndrome - additional abnormalities

Answer 5

Lower leg, hip subluxation, patellar subluxation, abnormal fusion of bones

Question 6

TAR syndrome - PT

Answer 6

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

Question 7

Noonan Syndrome s/s

Answer 7

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

Question 8

Noonan Syndrome - s/s - motor hypotonia

Answer 8

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

Question 9

What is Rett Syndrome

Answer 9

Degenerative genetic disorder
MECP2 gene
Predominantly girls (only 7 known boys)

Question 10

Rett Syndrome - typical progression

Answer 10

Early typical development
Regression phase - significant decline in motor function
Plateau/Stationary phase
Late motor deterioration

Question 11

Rett Syndrome - what is key with these patients

Answer 11

Ambulation - maintaining the ambulation skills will increase life expectancy and QOL

Question 12

Rett Syndrome - PT

Answer 12

Maintain function
Maintain mobility
Consider QOL factors/activities
Communication
Comfort
Seizure activity can fluctuate and may impact ability to attend PT

Question 13

Fetal Alcohol Syndrome - description

Answer 13

Preventable
Non progressive
Leads to developmental delays - physical and behavioral

Question 14

Fetal Alcohol Syndrome - Historical perspective

Answer 14

Aristotle said alcohol in the fetus was not going to be good
Term FAS coined in 1973
2001 - low doses can cause adverse effects

Question 15

FAS - etiology - theories

Answer 15

Excessive cell death
Growth factors and adhesion molecules
Free radicals
Prosaglandins and metabolic molecules
Altered gene expression

Question 16

Spectrum of clinical symptoms - FAS

Answer 16

Mental deficiency
Learning disability
ADD, ADHD
Poor memory and recall
Poor compliance
Poor planning and impulsivity
Abstraction difficulties 
Learning disability

Question 17

FAS - physical characteristics

Answer 17

Limb and facial abnormalities
Crease differences
Cardiac - ASD, VSD, Truncus abnormalities, tetralogy of fallot
Small genitalia
Ocular
Skeletal
Auditory

Question 18

FAS - Risk of exposure by term

Answer 18

CNS is impacted throughout

Everything else depends on time period

Question 19

FAS - Diagnosis - CDC criteria

Answer 19

All 3 facial abnormalities
Growth deficits
CNS or neuro disorders
Rule out other possible diagnosis

Question 20

FAS - Facial Abnormalities

Answer 20

Smooth philtrum - lip guide 4 or 5
Thin vermilion
Palpebral fissures (less than 10th percentile)

Question 21

FAS and the brain - IQ at 8 years

Answer 21

Heavy prenatal alcohol exposure with or without the physical features of FAS still lead to IQ deficits in children compared to normal controls

Question 22

Care management - providers involved in care of syndromes

Answer 22

PCP
Geneticist
Neurologist
Dysmorphologist
Developmental specialist
Social worker
Therapy services
Psychologist
Orthopedist
Orthotist

Question 23

Care management - Early childhood

Answer 23

Early intervention is key
Family support - help them think of the future
Adaptations for ADLs
Support for intellectual disability

Question 24

Case management - services into adulthood - help families

Answer 24

Consider future living situations
Connect with other families
Understand community resources available
Set realistic expectations while promoting being the best they can be

Question 25

Case management - Adolescence and Adulthood

Answer 25

Refer to other providers as seem necessary - counseling, social work, job training
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