Table 3. [Recommended Evaluations Following Initial Diagnosis in Individuals with L1 Syndrome]. - GeneReviews®

System/Concern	Evaluation	Comment
Hydrocephalus / Brain malformation	Brain imaging study	MRI is preferred.
Intellectual disability	Developmental eval
Spasticity	Complete neurologic eval
Adducted thumbs	Clinical observation
Hirschsprung disease association	Eval for Hirschsprung disease if there is history of constipation
Genetic counseling	By genetics professionals ¹	To inform patients & families re nature, MOI, & implications of L1 syndrome to facilitate medical & personal decision making
Family support/ resources	Assess: Use of community or online resources, e.g., Parent to Parent; Need for social work involvement for parental support; Need for home nursing referral.

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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