Q Can anything be done to help children with Angelman syndrome?
Dr. BRUCE H. COHEN responds:
A Although this question focuses on treatment, it's important to understand the clinical features and need for diagnosis before discussing therapies. Angelman syndrome (AS) is a genetic disorder that occurs in both boys and girls. In AS, usually everything seems “normal” at birth; the first symptoms of motor and cognitive delay are noticed by parents and the child's doctor usually soon after six months of life. In some children, there is hypotonia, or low muscle tone, and poor feeding ability noted shortly after birth. As the child begins to sit and walk, he or she may be tremulous and off-balance. He or she also may have an inappropriately happy disposition that can include laughing, smiling, and seeming overly excitable. We usually see the first specific clues to exact diagnosis within a year of a child's life, but in some children the overlap of symptoms mimics other conditions.
Seizures are common in AS and tend to start in the first few years. Other problems include feeding difficulties, crossed eyes (strabismus), gastroesophageal reflux, the development of small head size not present at birth (acquired microcephaly), spinal curvature (scoliosis), constant movement, a behavior of placing objects in the mouth, fascination with water, and severe sleep disturbance. Because of the problems with intellectual and motor development, most children with AS do not gain verbal skills and may not learn to walk on their own until six years of age or later.
The lifespan for people with AS appears normal, but children with AS never develop the ability to live independently. Right now, no therapies are available that treat the root of the disorder or that affect the ultimate cognitive outcome. To date, vitamin and supplement therapy has not proven to be helpful either.
However, treatments are available that will improve the quality of life and the communicative abilities of the child. Education should be geared toward communication skills and motor skills for help with the activities of daily living. Seizures may be subtle, and therefore any unusual movements or sensory changes should be investigated and, if found to be due to epilepsy, treated appropriately. Conversely, there is no reason to treat movements that are not epileptic with anticonvulsants.
Several anticonvulsants may worsen seizures in children with AS, including carbamazepine (Tegretol), vigabatrin (Sabril) and tiagabine (Gabitril). Some children can communicate much more effectively using nonverbal augmentative communication devices—ranging from picture cards to adapted pad devices, like the iPad, to commercial communication boards (which may have pictures, symbols, letters, or words attached for the child to point to). Treating insomnia, another symptom, with over-the-counter medications such as diphenhydramine (Benadryl) and melatonin are helpful in some children, while others may require prescription medication. As with any therapy, there are trade-offs, and these need to be addressed individually.
Early detection for scoliosis is also important, and the use of external devices such as plaster or molded vests, which are fitted orthotics strapped around the chest to keep the spine upright, may delay the eventual need for corrective surgery.