Newman Flashcards
when should a toddler be screened for autism
18 and 24 months
what should a baby be doing a 6 months
- Babbles (consonants)
- sits momentarily
what should a baby be doing at 9 months
- momma/dada (nonspecific)
- pulls up
- cruises
- sits well without support
What should a baby be doing at 1 year
- separation anxiety
- momma/dada (specific)
- Stacks 3 cubes
baby at 2 years
- 2 words together
- 2/4 of language understood by ppl who don’t live in the home
- Starting interest in potty training
- 6 blocks
- copy a line
Baby at 3 years
- Tricycle
- 3 numbers, 3 colors, 3 words together
- playing in groups of 3
- 9 blocks
- 3/4 or speech understood by strangers
baby at 4 years
- 4 body parts
- 4/4 of speech understandable by strangers
- past tense (“before”)
- copies a cross (1 line at 2 years, 2 lines at 4 years)
baby at 6 years
- ties shoes
- skips
- Draws a person with 6 parts
pediatric myopathies I need to know
- Muscular dystrophies: Duchenne and Becker
- mitochondrial disorders
- Glycogen storage disorder type 2 (Pompe Disease)
- Acquired muscle disorders: Juvenile dermatomyositis
- Drugs and toxins causing muscle weakness and elevated CK levels: statin induced myopathy
when should a baby be able to plank in your hand
4 months
what areas of body are involved in Duchenned and Becker muscular dystrophy
proximal limbs
genetics of Duchenne Muscular Dystrophy
- X-linked recessive
- so half of sons have it and half of daughters are carriers
- OUT of FRAME mutations
- ABSENCE of dystrophin
describe effects of Duchenne on daughter carriers
- may have CK elevations
- may develop cardiomyopathy
clinical aspects of Duchenne
- Rarely have antigravity neck flexor strength
- Gower’s sign (due to proximal muscle weakness): patients has to use their hands and arms to walk up their own body from a squatting position
- Calf and thigh muscles enlarged in beginning (true muscle hypertrophy and later replaced by fat and connective tissue
- Toe-walking by age 6
- wheel chair by 12-13 . . then scoliosis
- Compromised respiratory status . . respiratory failure is a common cause of death
Reflexes in Duchenne
diminished reflexes at knew, biceps, triceps
Genetics for Becker muscular dystrophy
- X-linked recessive
- in frame mutations
- abnormal or semi functional dystrophin
clinical aspects of becker
- basically just less severe
- age of death varies b/t fourth and sixth decades
case highlights for Duchenne
- serum CK is 50 times normal
- affects only male members on maternal side
highlights for congenital muscular dystrophies
- Present at birth
- possible clubbed feet
highlights for mitochrondrial disorders
- mitochrondrial or nuclear DNA mutations
- may be “syndromeic” (example: mitochondrial encephalomyopathy with lactic acidosis and stroke-like symptoms or MELAS)
highlights fro Glycogen storage disorder type 2 (pompe disease)
- Autosomal recessive
- Acid a-glucosidase gene mutation
- can treat with enzymatic treatment (myozyme)
Highlights for Myotonia Congenita
-mutation of the chloride channel CLCN1 gene mutations
highlights for periodic paralysis
- repeated episodesof flacced paralysis of the 4 extremities
- hypokalemic
- Hyperkalemic
highlights for Juvenile dermatomyositis
- Most common idiopathic inflammatory myopathy in children
- red or purplish heliotrope rash over eyelids
- Raised erythematous papules over the extensor joint surfaces (Gottren Papules)
highlights for statin induced myopathy
- necrotizing and inflammatory myopathy
- muscle weakness
- pain
- tenderness
- elevation of CK more than 10x normal
lab tests for muscle Disease
- Serum CK
- GGT (Gamma glutamyl transferase) level can help determine if the liver is involved . if elevated think liver . . if normal think muscle
