Autism Screening and Referral — Additional Referrals to Consider — Clinical Pathway: Primary Care

Additional Referrals to Consider
Genetics Consultation
  • Consider referral for pediatric genetics evaluation
  • Comprehensive family history and physical examination:
    • If syndrome diagnosis or metabolic disorder is suspected, refer to genetics and/or metabolism
  • Discuss and offer laboratory studies:
    • Chromosomal microarray
    • Fragile-X testing
    • Consider evaluation for Rett syndrome with MECP2 testing if patient is female
  • If these studies do not reveal etiology, consider referral for whole exome sequencing at CHOP Individualized Medical Genetics Center (IMGC)
Neurology Consultation
  • Referral if clinical concern for:
    • Seizures or altered consciousness
    • Cerebral anomalies
    • Dysmorphic features
    • Atypical regression (occurring later than 2 years of age, motor regression, or multiple regressions)
    • Microcephaly or macrocephaly
    • Abnormal or asymmetric neurologic exam
    • Active neurologic disorder
  • If Neurology is consulted, they will order imaging if appropriate
Neuroimaging and/or EEG
No routine order unless clinically indicated (see above)
  • Brain MRI may be indicated in the evaluation of atypical regression, microcephaly, macrocephaly, seizures, intracranial manifestations of genetic disorders, or abnormal neurologic examination
  • EEG may be indicated if there is clinical concern about seizures, atypical regression, or other neurologic symptoms on history or examination
Sensory Assessment
  • Can consider referral for assessment if sensory differences appear to interfere with a child’s functioning. The assessment is often conducted by occupational therapy and can evaluate sensory differences relative to smell, taste, vision, hearing, and touch.
Social Work To assist with obtaining or referring for services
Child and Adolescent Psychiatry Consider for children ≥ 5 yrs presenting with comorbid and complex psychopathology