Table 5.

Treatment of Manifestations in Individuals with SOX2 Disorder

Manifestation/
Concern		TreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.Referral to physiotherapist if evidence of motor impairment
Anophthalmia/
Microphthalmia 		Early referral to an experienced multidisciplinary team
  • Prostheses: Consider optically clear expanders to stimulate growth of the orbit & periorbital tissues.
  • Community vision services through early intervention or school district
Anterior pituitary
hypoplasia 		Hormone replacement by pediatric endocrinologist
Hypogonadotropic
hypogonadism 		Hormone replacement prior to expected onset of puberty by pediatric endocrinologist
Seizures Standardized treatment w/ASM by experienced neurologistEducation of parents/caregivers 1
Spasticity Orthopedist / physical medicine & rehab / PT/OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices & disability parking placard.
Dystonia / Status
dystonicus 		PT, hydration, intensive careDystonia may worsen & can show acute change to status dystonicus, which should be considered a medical emergency.
Hearing loss Hearing aids may be helpful per audiologist/otolaryngologist.Community hearing services through early intervention or school district
Esophageal atresia ± tracheoesophageal
fistula 		Perinatal surgeryThis constitutes a surgical emergency.

ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

1.

Education of parents/caregivers regarding common seizure presentations is appropriate. For information on nonmedical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: SOX2 Disorder

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