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Medical / Dietary Needs

What you need to know

The list of possible medical problems in MECP2 duplication can be quite extensive. However, each individual usually has only some of these problems. Also, the severity of any one of these medical problems varies widely.  Therefore, it is important to ask the parents about the medical issues for their child.

School age boys who have MEPC2 duplication should have annual doctor and, often, specialist’s visits to monitor medical conditions.

Many boys (about 50%) with MECP2 duplication will have seizures. The seizures are most often tonic-clonic seizures. The children are very likely to be on drugs that control seizures but the seizures may not respond well to the drugs.  Typically, the earlier the onset and more severe the seizures, the greater the impact is on the nervous system.  

Recurrent respiratory infections, especially recurrent pneumonia, occur in about 75% of boys.  These infections may require assisted ventilation and may be fatal.  It is important to intervene early if a respiratory infection occurs. 

Hypotonia may have already progressed to spasticity by the time boys with MECP2 duplication are school-aged. This can lead to uncoordinated movement (ataxia) especially in the lower limbs.  While 2/3 of boys will learn to walk, they may progress to a wheelchair by adulthood. The remaining third are never ambulatory.

Be aware, or ask a parent, if a child has a medical alert bracelet.

    What you can do

    • Report any change in seizure activity to the parents. Follow school protocols when seizures do occur.
    • Ensure a yearly check up in the child’s medical home. 
    • Ensure up to date immunizations. Most children with MECP2 duplication can receive live virus vaccinations. Record types of vaccinations the child receives.
    • Support good hand washing to reduce the spread of viruses.
    • Notify parents of changes in energy level.
    • Be aware of any changes in behavior or mood. Notify the parents.
    • Be aware of any changes in academic performance.  Contact parents.
    • Be an advocate for the child who uses communication supports so that the child can communicate effectively throughout the day. This may include alternative and augmentative communication systems or devices.
    • Dietary: GERD (gastroesophageal reflux) may occur. Talk with the parents about particular foods that might be triggers for the reflux and avoid those foods.  If the child has more vomiting or reflux than normal, contact the parents so that the cause can be determined.
    • Physical Therapy: Stretching exercises can help maintain joint range of motion, prevent secondary contractures, and prolong ability to walk
    • Physical accommodations for boys who are non-ambulatory may be necessary