Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with SOX2 Disorder

System/ConcernEvaluationComment
Constitutional Measurement of weight, length/height, & head circumferenceAssess for growth failure.
Eyes Complete ophthalmologic exam by experienced pediatric ophthalmologist
  • Incl best corrected visual acuity, assessment of refractive error, fundus exam
  • Consider referral to ophthalmo-plastic surgeon for children w/anophthalmia & extreme microphthalmia.
Brain malformation High-resolution cranial MRI
  • W/attention to brain/pituitary malformations, optic nerve/chiasm/tract
  • Mesial temporal heterotopia is highly assoc w/future epilepsy.
Anterior pituitary
hypoplasia 		Endocrine evalAssess:
  • Growth hormone & thyroid function;
  • Gonadotropins (when age appropriate).
Genitourinary Males: Assessment for micropenis &/or cryptorchidism
  • Consider referral to urologist for cryptorchidism or other genital malformations.
  • For those w/micropenis, refer to endocrinologist for consideration of eval for hypogonadotropic hypogonadism.
Females: Consider pelvic ultrasound exam &/or MRI, particularly in pubertal or postpubertal females.Assess for uterine & ovarian anomalies.
DD/ID Developmental assessment
  • Incl motor, adaptive, cognitive, & speech/language eval
  • Eval for early intervention / special education
Seizures Neurologic examIncl EEG
Spasticity Neurologic examReferral to OT/PT to assess:
  • Gross motor & fine motor skills
  • Mobility, ADL, & need for adaptive devices
  • Need for ongoing PT (to improve gross motor skills) &/or OT (to improve fine motor skills)
Dystonia Neurologic history & examAssess axial & peripheral tone to advise on likely efficacy of antispasmodic medications & procedures.
Hearing loss Audiologic evalAssess for sensorineural & conductive hearing loss.
Esophageal atresia ±
tracheoesophageal
fistula 		Focused neonatal assessmentThese major malformations constitute a surgical emergency.
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SOX2 disorder to facilitate medical & personal decision making
Family support/
resources 		Assess:

ADL = activities of daily living; DD = developmental delay; ID = intellectual disability; MOI = mode of inheritance; OT = occupational therapy/therapist; PT = physical therapy/therapist

1.

Medical geneticist, certified genetic counselor, or certified advanced genetic nurse

From: SOX2 Disorder

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