Table 5. [Recommended Surveillance for Individuals with Aicardi Syndrome]. - GeneReviews®

System/Concern	Evaluation	Frequency
Feeding	Measure growth parameters. Evaluate nutritional status & safety of oral intake.	At each visit
Gastrointestinal	Monitor for constipation & other bowel problems; stool softeners or pro-motility agents as needed.
Respiratory	Monitor for evidence of aspiration, respiratory insufficiency.
Neurologic	Monitor those w/seizures as clinically indicated. Assess for new manifestations incl seizures, changes in tone (e.g., spasticity), movement disorders.
Development	Monitor developmental progress & educational needs.
Psychiatric/ Behavioral	Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills
Costovertebral abnormalities	Monitor spine for progression of scoliosis (by exam; perform radiographs as needed).
Precocious or delayed puberty	Pediatric endocrinologist w/hormonal testing & supplementation as needed	If symptomatic
Malignancy	Treating physicians should be aware of possible ↑ risk of rare malignancies; if there are symptoms concerning for a malignancy, consider screening.
Family / Care givers	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.	At each visit

System/Concern

Evaluation

Frequency

Feeding

Measure growth parameters.
Evaluate nutritional status & safety of oral intake.

At each visit

Gastrointestinal

Monitor for constipation & other bowel problems; stool softeners or pro-motility agents as needed.

Respiratory

Monitor for evidence of aspiration, respiratory insufficiency.

Neurologic

Monitor those w/seizures as clinically indicated.
Assess for new manifestations incl seizures, changes in tone (e.g., spasticity), movement disorders.

Development

Monitor developmental progress & educational needs.

Psychiatric/
Behavioral

Behavioral assessment for anxiety, attention, & aggressive or self-injurious behavior

Musculoskeletal

Physical medicine, OT/PT assessment of mobility, self-help skills

Costovertebral
abnormalities

Monitor spine for progression of scoliosis (by exam; perform radiographs as needed).

Precocious or
delayed puberty

Pediatric endocrinologist w/hormonal testing & supplementation as needed

If symptomatic

Malignancy

Treating physicians should be aware of possible ↑ risk of rare malignancies; if there are symptoms concerning for a malignancy, consider screening.

Family /
Care givers

Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources) & care coordination.

At each visit

From: Aicardi Syndrome

GeneReviews^® [Internet].

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

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