Table 5.

Treatment of Manifestations in Individuals with ATR-X Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none demonstrated effective specifically for this disorder
  • Education of parents/caregivers 1
Gastrointestinal/
Feeding 		Feeding therapy; calorie-dense formula; gastrostomy tube placement as needed for persistent feeding issues
  • Usual treatment for GERD, constipation
  • Treatment for gastric pseudo-obstruction per treating gastroenterologist/pediatric surgeon
Drooling Anticholinergics, botulinum toxin type A injection of salivary glands &/or surgical redirecting of submandibular ductsOptions when drooling is a serious problem
Genital
abnormalities 		Per treating urologist
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OTUse of durable medical equipment & positioning devices as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers)
Congenital heart
defects 		Per treating cardiologist
Ophthalmologic
involvement 		Per treating ophthalmologist

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

From: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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