Primary Care Clinical Pathway for Diagnostic Evaluation of Developmental Delay and Intellectual Disability
- Related Pathway
- Initial Evaluation
- Hearing
- Vision testing
- Referral to:
- Age 0-3 yrs: Early intervention
- Age 3-5 yrs: Intermediate units
- Age >5 yrs: School districts
- Subspecialty Referral Considerations
- Genetics
- Developmental Behavioral Pediatrics
- Neurology
- Metabolism
Testing Recommendations for
Common Recognizable Syndromes
Authorization for Genetic Testing
- Standard Laboratory Evaluation by General Pediatrics
- Testing Recommendations for Special Circumstance
- No Newborn Screen performed
- Children born outside the U.S.
Posted: September 2022
Authors: H. Alharbi, MD; C. Desrochers, MD; K. Zsolway, MD; E. Huang, MD; V. Cuddapah, MD; P. Huang, MD; C. Menello, MS; R. Ganetzky, MD;
Authors: H. Alharbi, MD; C. Desrochers, MD; K. Zsolway, MD; E. Huang, MD; V. Cuddapah, MD; P. Huang, MD; C. Menello, MS; R. Ganetzky, MD;
Evidence
- Comprehensive Evaluation of the Child with Intellectual Disability or Global Developmental Delays
- Evaluation of the Child with Global Developmental Delay and Intellectual Disability
- Consensus Statement: Chromosomal Microarray is a First-tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- Exome and Genome Sequencing for Pediatric Patients with Congenital Anomalies or Intellectual Disability: an Evidence-based Clinical Guideline of the American College of Medical Genetics and Genomics (ACMG)
Educational Media