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Assessing a child who is doing poorly in school or who is developmentally delayed

When a child is delayed in certain areas of development or performs exceedingly poorly in school (Ds and Rs on report card), the cause can be found in 1 of 5 buckets:

  • Hearing or visual problems
  • Autism (difficulty in seeing other individuals as having their own agency)
  • ADHD
  • Global developmental delay / intellectual disability (deficits seen consistently across multiple domains)
  • Learning disability (normal intelligence but deficit in a specific area that can impair the acquisition of knowledge and skills)
  1. History and physical exam
  2. Referral to audiology and optometry (based on history and physical exam findings)
  3. Screen for autism first using the MCHAT-R and then follow up with the RITA-T
    1. MCHAT-R is the Modified Checklist for Autism in Toddlers-Revised. It is a simple checklist of questions that parents have to answer prior to their interactive assessment.
    2. RITA-T is the Rapid Interactive screening Test for Autism. It is an interactive assessment that must be done in office with a selection of toys.
    3. After assessment if concerned, refer to pediatrician
  4. Screen for ADHD using history and physical as well as SNAP 90 to assess ADHD and co-morbid disorders
  5. Screen for learning disability in history. Refer to private psychologist who performs learning and cognitive assessment or write letter to school to perform cognitive assessment (longer waiting list).
  6. Screen for delays in other areas of development. Are you concerned about global developmental delay?
  • Definition: Significant delay in at least 2 developmental domains including gross or fine motor, speech, cognition, social, ADLs
  • Diagnosis that is reserved for under the age of 5, these children can go on to meet to the criteria for intellectual disability (replaces old term “mental retardation”) later on as well

If no diagnosis is suspected from steps 1-2 above, and if there are delays in multiple areas of development, then this is unexplained GDD/ID. Perform tests to look for a treatable inborn error of metabolism (IEM), even if newborn screen is normal.

  • Chromosomal microarray
  • Fragile-X testing
  • Labs
    • Complete blood count 
    • Glucose
    • Blood gas 
    • Urea, creatinine 
    • Electrolytes (to calculate anion gap) 
    • AST, ALT 
    • TSH 
    • Creatine kinase 
    • Ammonia 
    • Lactate
    • Amino acids 
    • Acylcarnitine profile, carnitine (free and total) 
    • Homocysteine 
    • Copper, ceruloplasmin** 
    • Biotinidase*** 
    • Ferritin, vitamin B12 when dietary restriction or pica are present
    • Lead level when risk factors for exposure are present
    • Urinalysis  
      • Organic acids 
      • Creatine metabolites 
      • Purines, pyrimidines 
      • Glycosaminoglycans 
      • Brain MRI if
    • Abnormal neurologic exam
    • Seizures
    • Micro/macro-cephaly

Still unclear diagnosis? Referral to a developmental pediatrician or general pediatrician with a focus in development

  • Brain MRI
  • Genetics/metabolic consult
  • Neurology consult