Approach to Developmental Delay Flashcards
define developmental delay
the symptom of not reaching developmental milestones at the expected age
most common cause of motor delay
cerebral palsy
most common cause of speech and language delay
hearing impairment
most common cause of social delay
autism spectrum disorder
global developmental delay
2+ areas of delay under the age of 5yo with a specific diagnosis. 2/3 will develop an intellectual disability
learning disability definition
average or higher cognitive abilities overall with 1+ specific areas of
deficit
investigations to developmental delay
- Screening for autism___
- Brain MRI • EEG
• Laboratory Investigations such as:
- Screening for autism M-CHAT
- Brain MRI • EEG
• Laboratory Investigations: CBC, glucose, blood gas, urea, creatinine, lytes, AST/ALT, TSH, creatinine kinase, ammonia, lactate, AA, acylcarnitine profile, homocysteine, cooper + ceruloplasmin, ferritin + vitB12
what are the requiremenets of the MCHAT criteria to use in order to diagnose autism?
Use the MCHAT criteria
Parent concern 15-22 mo, specialist 20-27 mo.
At 24 months, the MCHAT has good sensitivity and specificity.
Tests joint attention, social relationship and communication.
A fail is >2 critical items or any three.
screening recommendations for children with down syndrome
Congenital heart disease: ventral-septal defect.
Thyroid function
Vision
Hearing
Atlanto-occipital instability
Sleep apnea
firs step tp investigate a kid who hasn’t began to say words
Ensure that isolated vision and hearing and sensory abilities are normal.
you suspect global developmental delay in a kid. You do a history and PE, audiology report and optho report, and an EEG and MRI but there is nothing conclusive– all sensory faculties are normal. Now what do you do?
Tier 1 testing: do a chromosomal microarray, look for fragil X, consider MECP2 in girls