Disease Burden and Management of Rett Syndrome


David Lieberman, MD, PhD, reviews the economic burden and long-term complications of Rett syndrome as well as highlights the unmet needs for patients.

David Lieberman, MD, PhD: Some long-term complications in Rett syndrome include scoliosis. Features of scoliosis often appear by age 12. They can get quite severe as the girl is going through her growth spurt. For those who have what we call a Cobb angle of 50° or 60°,there may be a surgical intervention to repair that scoliosis. There’s a lot of spasticity that can develop in some of our patients as they get older; we help with that with referrals to physiatry that may include Botox injections to help loosen up muscles and allow more freedom of movement and decrease pain. There also can be joint contractures, especially for those who are nonambulatory, that develop over time, and they may also need surgical intervention to allow more joint mobility.

The economic burden of Rett syndrome is significant on the [patient’s] family. This is a disorder that comes on in early childhood and lasts through the lifetime. There could be problems with mobility that require [the use of a] wheelchair or a van to transport that individual, various aids for mobility at home, maybe a gait trainer, maybe a stander that helps to maintain bone density and for those who are nonambulatory. There can be suction devices for those who have a lot of secretions. They need safety beds so they don’t roll out of bed at night and injure themselves. These families bring their children to several specialists, as I referred to earlier, so that also [likely] requires that the family member be available and lose work hours to make those appointments. There are [also] lots of therapeutic devices for communication, which can cost money; sometimes they’re covered by insurance, but sometimes the family must contribute as well…[such as] eye-gaze devices. [Other expenses can include] extra nursing hours if that’s required, or a personal care assistant. Some of this can be funded through [your local] department of developmental services, but it varies from state to state as to how well it’s funded.

The biggest unmet meet is the treatment of these core features,—their communication skills, their hand function, their ambulation, and their hand stereotypies. Families would love to see their children be able to walk or to walk better. They would love to be able to communicate with them, with speech, or even through a device, if that’s possible. They’d love for them to have some more independence in their lives by having improved hand functions. They [could] do some things for themselves, like feed themselves. It’s even reducing the burden of disease by reducing the number of drugs…they’re receiving, reducing the number of specialty visits they need to receive. I think that would be great. If we could say, you don’t need to see orthopedics anymore, you don’t need to see gastroenterology anymore, you don’t need to see endocrinology anymore. That would be a nice thing to be able to do for our families.

Transcript edited for clarity.

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