Table 5.

Rubinstein-Taybi Syndrome: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Developmental delay /
Intellectual disability /
Neurobehavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Poor weight gain /
Failure to thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Epilepsy Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls
  • Consider need for positioning & mobility devices, disability parking placard.
  • For significantly angulated thumbs or duplicated halluces, surgical repair per orthopedist. Recurrence of deviation may occur after surgery. Decision reg surgery may need to be postponed until function of hands can be accurately evaluated (typically age 3-4 yrs).
Gastrointestinal Standard treatment by gastroenterologist/dietician
  • Standard mgmt of gastroesophageal reflux & constipation
  • Consider tube feeding as needed for failure to thrive.
  • Stool softeners, prokinetics, osmotic agents, dietary changes, or laxatives as needed
Eyes OphthalmologistRefractive errors, strabismus
Ophthalmic subspecialistMore complex findings (e.g., cataract, retinal dystrophy, glaucoma)
Low vision services
  • Children: through early intervention programs and/or school district
  • Adults: low vision clinic &/or community vision services/occupational therapy/mobility services
Hearing Hearing aids may be helpful per otolaryngologist.Community hearing services through early intervention or school district
Cardiac Standard treatment per cardiologist
  • Monitoring by echocardiogram; surgery if necessary
  • The frequency of hypertension is not ↑ in adults.
  • Treatment as in general population
ENT Standard treatment of obstructive sleep apnea / recurrent otitisConsider polysomnogram, CPAP, removal of tonsils/adenoids, tympanostomy tubes as clinically indicated.
Genitourinary Standard treatment per nephrologist &/or urologist
  • Standard treatment of cryptorchidism
  • Provide developmentally appropriate sex education/contraception as needed.
Dental Standard treatment per dentist &/or orthodontistTreatment for talon cusps if interfering w/occlusion, mouth closure, or causing caries
Skin Monitor for keloids/pilomatrixomas.
  • No treatment protocols for keloids but options incl steroid injection, laser, radiation, cryotherapy, & surgery.
  • Pilomatrixomas can be surgically removed if symptomatic.
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for home nursing support
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; CPAP = continuous positive airway pressure; OT = occupational therapy; PT = physical therapy

1.

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

From: Rubinstein-Taybi Syndrome

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