Pediatric Myopathies Flashcards
(44 cards)
When are developmental assessments performed and what is the purpose of them?
Performed at every well child visit
= help determine if child is keeping up with expected milestones
Developmental assessments can be used for the parents how?
Education for them and to show them there is a wide range of normal
The ____ a developmental deficit is identified, and the _____ an intervention is made the _____ the outcome
The EARLIER a developmental deficit is identified and the EARLIER an intervention is made the BETTER the outcome
What are the 4 domains of pediatric development?
- Gross motor
- Fine motor
- Language
- Cognitive/social-emotional and Behavior
What are the 4 domains of pediatric development?
- Gross motor
- Fine motor
- Language
- Cognitive/social-emotional and Behavior
What is more concerning than a child not meeting developmental milestones?
Losing developmental skills that had already been achieved!
developmental regression
What should you be suspicious of if developmental regression occurs?
Progressive disease
– losing developmental skills that had already been achieved
What age should a child be able to hold their chin up?
2 months
What age should a child be able to rollover?
4 months
What age should a child be able to sit up?
6 months
What age should a child be able to pull themselves up to a stand?
9 months
What age should a child be able to stand on their own?
1 year
What age should a child be able to run?
2 years
What age should a child be able to pedal a tricycle and climb stairs normally?
3 years
What age should a child be able to balance on 1 foot?
4 years
What are 2 screening tools that can be used?
- DDST-11
2. M-CHAT-R
What does the DDST-11 screening tool do?
Parenteral questionnaire to assess 4 developmental domains at each well child visit
When is the M-CHAT-R screening administered?
18 and 24 months
What does the M-CHAT-R screening tool assess?
Focuses on personal-social domain and language domain
Decreased muscle tone
Hypotonia
Decreased ability to voluntarily and actively move muscles against resistance
Weakness
What inheritance pattern occurs with Duchenne and Becker Muscular Dystrophy?
X-linked Recessive inheritance
What type of mutation occurs in the dystrophin gene with Duchenne?
Frameshift in dystrophin gene
What type of mutation occurs in the dystrophin gene with Becker?
In-frame mutation in dystrophin gene
