Pediatric Myopathies Flashcards
What are the 4 domains of pediatric development?
Gross motor, fine motor, language, cognitive/social (emotional and behavioral)
What is the gross motor domain of development?
Movements involving large muscles including supporting the head, rolling over, sitting up, walking, running, etc; the msot important domain when talking about myopathies
What is the fine motor domain of development?
Movements using the hands and smaller muscles; necessary for daily living skills such as reaching for objects, holding objects, writing, stacking, drawing, etc
What is the language domain of development?
Receptive: understanding what is being said;; expressive: talking; both verbal and nonverbal communication
What is the cognitive/social domain of development?
Attachment to others, self regulation and interaction with others
What is the importance of early intervention in children with developmental delays?
The earlier the developmental deficit is ID’ed and the earlier an intervention is made, the better the outcome
What is the significance of developmental regression in a child?
Not meeting developmental milestones is concerning, but losing developmental skills that had already been achieved is even more concerning (think progressive disease)
When is a child able to hold their chin up when in the prone position?
2 months
When is a child able to roll over front to back?
4 months
When is a child able to sit briefly w/o support?
6 months
When is a child able to pull to stand?
9 months
When is a child able to stand w/o support?
12 months (standing may be brief)
When is a child able to run with coordination?
2 years
When is a child able to pedal a tricycle?
3 years
When is a child able to climb stairs with alternating feet?
3 years
When is a child able to balance on one foot?
4 years
What is the DDST-II (Denver Developmental Screening Test)?
Assesses the 4 major domains of development; some form of assessment usually based on the DDST-II is performed at every well child visit
What is the M-CHAT-R (modified checklist for autism in toddlers)?
Administered at 18 and 24 months of age; focuses on areas where the DDST is known to be weak (the personal-social and language domain); not important for myopathies
What is weakness?
Decreased ability to voluntarily and actively move muscles against resistance
What is hypotonia?
Decreased muscle tone (can exist in the absence of weakness and if so think neuro involvement)
What is the Gower manuever a sign of?
Severe proximal muscle weakness
What is the clinical presentation of congenital muscular dystrophies (CMD)?
Present at birth or in early infancy; hypotonia, severe symmetric muscle weakness (proximal>distal) at birth or shortly after, joint contractures present; may present with malformations of the eyes/brain or cardiomyopathy
What are the genetics of CMD?
Almost all are AR; the defect involves structural proteins of hte ECM (MC) or ICM; sometimes classified as merosin-positive or negative
What are the genetics for glycogen storage disorder type 2 (Pompe disease)?
AR; alpha-glucosidase gene mutations resulting in decreased enzyme activity; build up of glycogen in the lysosomes of cells (especially M)
