Table 4.

Treatment of Manifestations in Individuals with MECP2 Duplication Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
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 if clinical signs or symptoms of dysphagia
Bowel dysfunction Monitor for constipation.Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Developmental delay /
Intellectual disability 		See Developmental Delay / Intellectual Disability Management Issues.
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & falls
  • Consider need for positioning & mobility devices, disability parking placard.
  • PT w/attention to stretching exercises can help maintain joint range of motion & prevent secondary contractures, thus prolonging ability to walk.
Epilepsy Standardized treatment w/ASMs by experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Seizure treatment may require multidrug therapy.
  • Education of parents/caregivers 1
Recurrent infections
  • Treat infections (esp respiratory tract) immediately w/appropriate antibiotics.
  • All vaccines should be given.
  • If aspiration occurs, consider placement of a permanent gastrostomy.
Consider evaluating post-vaccination titers for pneumococcus; if they are not sufficient, additional vaccination may be required.
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 palliative care involvement &/or home nursing

ASM = anti-seizure medication; 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: MECP2 Duplication Syndrome

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