Screening for developmental dealsy
- DDST-II (denver)
- M-CHAT-R- autism- 18 and 24 months
failed screen means what?
indication for a more thorough evaluation
autism- screening?
- M-CHAT-R
- at 18 and 24 mos
autism- is it more common now?
- MMR vaccine does NOT cause autism
- care providers are better at IDing the condition
developmental pearls- 6 months
- babbles
- sits momentarily
developmental pearls- 9 months
- momma/dadda (nonspecific)
- pulls up
- cruises
- sits well w/o support
developmental pearls- 1 yr
- separation anxiety
- momma/dadda (specific)
- stacks 3 cubes
developmental pearls- 2 yrs
- 2 words together
- 2/4 of language understood by strangers
- interesting in potty training
- 6 blocks
- copy a line
developmental pearls- 3 yrs
- tricycle
- 3 numbers, 3 colors, 3 words together
- playing in groups
- 9 blocks
- 3/4 speech understood by stragners
developmental pearls- 4 yrs
- 4 body parts
- 4/4 of speech understandable by strangers
- past tense
- copies a cros
developmental pearls- 6 yrs
- ties shoes
- skips
- draws a person w 6 parts
pediatric myopathies
- Muscular dystrophies (duchenne, becker)
- mitochondrial disorders
- glycogen storage disorder type 2 (pompe dz)
- acquired- Juvenile dermatomyositis
- statin induced myopathy
dystrophies- abnormalities in?
-dystrophin-assoc protein complex
Duchenne Muscular Dystrophy
- most common severe childhood form!!
- dystrophin gene mutations
- X-linked recessive- 50% of sons have DMD; 50% of daughters are carriers- daughters risk for cardiomyopathy!!
- frameshift mutations- absence of m dystrophin
DMD- pathogenesis
- no dystrophin- lack m membrane stability- membrane tears
- heart, GI, CNS
MD- clinical aspects
- lacks anti-gravity neck flexor strength
- delayed walking, diff running
- broad-based, waddling, lordotic gait
- gowers sign (due to proximal m weakness)
- calf and thigh m’s
- toe-walking ( 6 yo)
- limited hip flexion
- independent ambulation (12-13 yo)- progressive scoliosis
- compromised resp status
- cardiomyopathy (15 yo)
- intellectual impairment
DMD- tx
- lacks anti-gravity neck flexor strength
- delayed walking, diff running
- broad-based, waddling, lordotic gait
- gowers sign (due to proximal m weakness)
- calf and thigh m’s
- toe-walking ( 6 yo)
- limited hip flexion
- independent ambulation (12-13 yo)- progressive scoliosis
- compromised resp status
- cardiomyopathy (15 yo)
- intellectual impairment
DMD- tx
- steroids
- supportive care
Gower manuever
see picture
Becker muscular dystrophy
- X-linked
- mutation in dystrophin gene- in-frame mutation- abnormal/semi-fxnal dystrophin
- less severe m weakness
- proximal m weakness after 5 yo
- indep walking after 16 yo
congenital muscular dystrophies
-present at birth or early infancy
mitochondrial disorders
- mitochondrial or nuclear DNA mutations!!
- may be syndromic- MELAS (mitochondrial encephalomyopathy w lactic acidosis and stroke-like sx’s)
Pompe dz
(Glycogen Storage Disorder type 2)
- AR!!
- presents in early infancy
- weakness, hypotonia
Myotonia Congenita
- mutation of CLCN1 (cl channel) gene mutation
- m stiffness
- AD or AR
