| 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)
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| 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
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Neuroimaging and/or EEG
No routine order unless clinically indicated (see above)
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- 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
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| 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.
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| Social Work |
To assist with obtaining or referring for services
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| Child and Adolescent Psychiatry |
Consider for children ≥ 5 yrs presenting with comorbid and complex psychopathology
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