Final Flashcards
When do you screen for developmental delays
Status done at every visit; more thorough screening at 9,18, and 24 or 30 months; autism screen at 18 and 24 months
What are the domains of development
Gross motor, fine motor, language, cognitive/social-emotional and behavioral
What is M-CHAT-R
Modified checklist for autism in toddlers; administer at 18 and 24 months
What should a baby be able to do at 6 months
Babble; sits momentarily
What should a baby be able to do at 9 months
Mama/dada, pulls up, cruises, sits well without support
What can a baby do at 1 year
Separation anxiety, mama/dada, stacks 3 cubes, stands momentarily
What should a baby be able to do at 2 years
Walks well, runs, walks up stairs, kicks ball forward, 2 words together, 1/2 of langue understood by people who don’t live in the home, starting interest in potty training; 6 blocks stacked, copy a line
What should a 3 year old be able to do
Tricycle, 3 words together, playing in groups (3), 9 blocks, 3/4 of speech understood by strangers
What should a baby be able to do at 4 years
Balance on one foot, hop on one foot, 4 body parts, all speech understood by strangers, small sentences, use past tense, copies cross
What should a 6 year old be able to do
Tie shoes, skips, draw person with 6 parts
When does Becker MD present
After 5 years of age
How are congenital MDs inherited
AR
What is Pompe dz
AR; alpha glucosidase mutations; build up of glycogen in lysosomes; presents in infancy as hypotonia, hypertrophic cardiomyopathy, resp failure, feeding difficulty, hearing loss; treat with enzymes (myozyme) - can reduce cardiac mass and improve ejection fraction
What is myotonia congenita
Mutation in chloride channel (CLCN 1) AD or AR; first symptoms in childhood; muscle stiffness relieved by exercise; muscles hypertrophic; fainting goat syndrome
What is periodic paralysis
Repeated episodes of flaccid paralysis of extremities
- hypokalemia: mutation in calcium and sodium channel; occurs after exercise and carb rich foods
- hyperkalemia: mutations in sodium channel; occurs while eating potassium rich food or rest after exercise
Treat with acetezolamide
What is juvenile dermatomyositis
Most common idiopathic inflammatory myopathy in children; mean onset 7 years; proximal m weakness, heliotrope rash, gottron papules, thrombi or hemorrhage in peri-ungual cap bed; acquired
What can GGT tell you
If elevated, think liver
If normal, think muscle
What are the results of nerve conduction studies in Myopathies
Normal
What kind of autoab is RF
IgM that targets Fc portion of IgG *produced by B cells in synovial joints
What other conditions is RF present in
Sjograns, cryoglobulinemia, PBC, mixed connective tissue, endocarditis, SLE, sarcoidosis, malignancy
Is anti CCP or RF more specific for RA
CCP
What does a homogenous pattern of ANA suggest
Drug induced lupus - histone ab
What does a Rim pattern ANA suggest
anti dsDNA; SLE
What does a speckled ANA pattern indicate
Anti SM (SLE) or anti SS-a/B sjogren