Table 6.

Treatment of Manifestations in Individuals with a MECP2 Disorder

Manifestation/
Concern		TreatmentConsiderations/Other

DD/ID

See Developmental Delay / Intellectual Disability Management Issues.
Epilepsy Standardized treatment w/ASM by an experienced neurologist
  • Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.
  • Education of parents/caregivers 1
Psychiatric/
Behavioral 		Risperidone (low dose) or selective serotonin uptake inhibitors have been somewhat successful in treating agitation.
Musculoskeletal ScoliosisPer guidelines 2
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; nutritional guidelines are available. 3
Spasticity Orthopedics / physical medicine & rehab / PT & OT incl stretching to help avoid contractures & fallsConsider need for positioning & mobility devices, disability parking placard.
Sleep disorder Melatonin can ameliorate sleep disturbances.Chloral hydrate, hydroxyzine, or diphenhydramine may be used w/melatonin.
Abnormal vision &/or strabismus Standard treatment(s) as recommended by ophthalmologistCommunity vision services through early intervention or school district
Central visual impairment No specific treatment; early intervention to help stimulate visual development
Hearing Hearing aids may be helpful; per otolaryngologistCommunity hearing services through early intervention or school district
Gastrointestinal
  • Constipation: stool softeners, prokinetics, osmotic agents, or laxatives as needed
  • GERD: anti-reflux agents, smaller & thickened feedings, & positioning
Cardiovascular Treatment for prolonged QTcUnder care of pediatric cardiologist
Osteopenia Baseline densitometry; optimization of physical activity & calcium & vitamin D levelsGuidelines for management of bone health are available. 4
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Care coordination to manage multiple subspecialty appointments, equipment, medications, & supplies
  • Ongoing assessment for need of palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; DD = developmental delay; GERD = gastroesophageal reflux disease; ID = intellectual disability; 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.

2.
3.
4.

From: MECP2 Disorders

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