Patients with MECP2 duplication syndrome manifest many different problems, necessitating a lifelong multidisciplinary approach.
From infant age on, feeding and swallowing problems should be monitored to prevent aspiration pneumonia, optimize the general condition and prevent malnutrition of the child.
Given the many neurological problems, evaluation, treatment and follow-up by a pediatric neurologist and rehabilitation specialist are essential.
Developmental stimulation including physiotherapy, speech and communication therapy is extremely important and should be adapted to the individual needs of the patients. Also the spasticity should be monitored to prevent secondary contractures.
Diagnosis of type and frequency of seizures should be done by clinical history and EEG. If seizures are present, they usually respond well to standard therapy with anti-epileptic drugs. However, a subset of affected males experience treatment refractory seizures, and in this group neurological deterioration and regression often occurs.
Given the predisposition to infections, especially of the respiratory tract, they should be treated immediately and aggressively with appropriate antibiotics.
Given the low immunological response to vaccines containing polysaccharide antigens, administration of a booster might be considered.