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Developmental Delay/Intellectual Disability — Testing Recommendations — Clinical Pathway: Primary Care

Developmental Delay/Intellectual Disability Diagnostic Evaluation Clinical Pathway — Primary Care

Testing Recommendations for Common Recognizable Syndromes

Rett Syndrome

History Features Exam Features Next Steps
  • Loss of purposeful hand movements
  • Loss of language
  • Hand stereotypies
  • Abnormal gait
Refer to Neurogenetics (Neurology)

MPS I, II, III

History Features Exam Features Next Steps
  • Recurrent ear infections
    • May need MT
  • Sleep apnea requiring
    • T&A
  • May have X-linked family history
  • Coarse facial features (may be subtle)
  • Inguinal or umbilical hernia
  • Extensive blue nevi (“Mongolian spot”)
  • Limited range of motion
  • GAGs
  • Refer to Metabolism

Fragile X

History Features Exam Features Next Steps
Difficult behavior, autism
  • Macroorchidism
  • Tall stature
  • Stellate iris
  • Fragile X testing
  • Refer to Neurogenetics (Neurology) and DBP

22q11.2 Deletion

History Features Exam Features Next Steps
  • Cleft palate
  • Cardiac defect
  • Hearing impairment
  • Short stature
  • Prominent nose
  • Micrognathia
  • Chromosomal microarray
  • Refer to genetics

5p Deletion (Cri Du Chat Syndrome)

History Features Exam Features Next Steps
  • Cat-like cry during first year of life
  • Growth deficiency
  • Cardiac defects
  • Hypotonia
  • Hypertelorism
  • Downslanting palpebral fissure
  • Strabismus
  • Micrognathia
  • Single palmar crease
  • Chromosomal microarray
  • Refer to Genetics

Menkes Syndrome

History Features Exam Features Next Steps
  • Seizure
  • Growth deficiency
  • Feeding difficulties
  • Healthy at birth
  • Symptoms develop at 1 1/2 to 3 months
  • Early death
  • Sparse kinky and often lightly pigmented hair
  • Strabismus
  • Hypotonia progress to hypertonia
  • Serum copper and ceruloplasmin (low)
  • ATP7A gene sequencing
  • Refer to metabolism

Tuberous Sclerosis Complex

History Features Exam Features Next Steps
  • Seizure
  • Autism, ADHD
  • Arrhythmias Rhabdomyomas
  • Renal cyst or angiomyolipoma
  • Skin abnormalities
    • Hypomelanotic macules
    • Shagreen patches
    • Facial angiofibromas
Refer to Neurogenetics (Neurology)

 

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