Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Aicardi Syndrome

System/ConcernEvaluationComment
Constitutional Measure height, weight, head circumference.
Neurologic Neurologic eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Psychiatric/
Behavioral 		Neuropsychiatric evalFor persons age >12 mos: screening for behavior concerns incl sleep disturbances, ADHD, anxiety, &/or traits suggestive of ASD
Costovertebral
abnormalities 		Spine radiographs
  • To evaluate for hemivertebrae, block vertebrae, fused vertebrae; missing, malformed, fused ribs
  • Orthopedics consultation if costovertebral abnormalities are significant
Musculoskeletal /
Activities of daily living 		Physical medicine & rehab / PT & OT evalTo incl assessment of:
  • Gross motor & fine motor skills
  • Mobility, activities of daily living, & need for adaptive devices
  • Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Gastrointestinal/
Feeding 		Gastroenterology/nutrition/
feeding team eval		To incl:
  • History of constipation, diarrhea, GERD
  • Eval of aspiration risk & nutritional status
  • Consider eval for gastrostomy tube placement in patients w/dysphagia &/or aspiration risk.
Eyes/Vision Ophthalmologic evalTo assess for ↓ vision, abnormal ocular movement, strabismus
Endocrine Physical exam for evidence of precocious or delayed puberty
Skin Dermatologic evalFor vascular malformations & pigmentary lesions at risk for malignant transformation
Risk of
malignancy 		No regular screening recommended, given variety of tumors seen. Treating clinicians should be alert to risk of malignancy.Angiosarcoma, hepatoblastoma, medulloblastoma, embryonal carcinoma, & teratoma have been reported.
Genetic
counseling 		By genetics professionals 1To date, no gene has been identified as causative of Aicardi syndrome. Genetic testing may be warranted to rule out aforementioned differential diagnoses, esp if presentation is not classic for Aicardi syndrome.
Family support
& resources 		Assess need for:

ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; GERD = gastroesophageal reflux disease; MOI = mode of inheritance; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Aicardi Syndrome

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