Bridging the gaps in Rett syndrome management

With a wide range of heterogeneous symptoms and no FDA-approved treatment specifically for Rett syndrome, the care team faces treatment challenges1,2

Currently, there are no FDA-approved medications for the treatment of Rett syndrome (RTT).2,3 Today’s treatment is symptomatic and supportive, with medications to manage select manifestations, such as pulmonary and gastrointestinal issues and epileptic seizures.2,3

Looking beyond symptoms of RTT with pharmacologic treatment

While some RTT symptoms have pharmacologic intervention available, other symptoms do not. Symptoms without specific pharmacologic intervention may include:

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Breathing abnormalities (eg, hyperventilation, breath-holding, air swallowing)4,5

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Nighttime behaviors (eg, screaming, laughing)6

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Stereotypic hand movements4

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Non-verbal communication4

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inattentiveness and anxiety4

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Orthopedic and mobility issues4

A multidisciplinary team of physicians, specialists, and specialized therapists is needed to help manage the wide-ranging symptoms.4 And at home, individuals with RTT require lifelong care and may need assistance with nearly all aspects of daily life.4 For caregivers, that burden is substantial.7,8

Looking at the larger impact of RTT

Acknowledging and identifying impactful symptoms of RTT that do not have pharmacological treatments can be as beneficial to the caregiver as the individual. An approach that prioritizes the caregiver’s observations and expertise with their child can profoundly impact day-to-day care and the lives of the families that care for—and about—someone with Rett syndrome.

For example, having caregivers track their loved one’s symptoms and behaviors over time, as well as the impact felt throughout the family, can highlight areas where help may be needed.

“Family conflicts really affected our daughter. If she became overwrought, we were coached to offer her a variety of distractions for when her hand wringing and screaming were triggered and boy, did those help!”

– Caregiver and mother to 19-year-old with RTT

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Identify more opportunities for collaborative care that span the entirety of RTT.

FDA=Food and Drug Administration.

References:

1. Fu C, Armstrong D, Marsh E, et al. Multisystem comorbidities in classic Rett syndrome: a scoping review. BMJ Paediatr Open. 2020;4:e000731. 2. Gold WA, Krishnarajy R, Ellaway C, et al. Rett syndrome: a genetic update and clinical review focusing on comorbidities. ACS Chem Neurosci. 2018;9(2):167-176. 3. National Institute of Neurological Disorders and Stroke. Rett syndrome fact sheet. Accessed August 2, 2022. https://www.ninds.nih.gov/rett-syndrome-fact-sheet 4. Fu C, Armstrong D, Marsh E, et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. 2020;4(1):e000717. 5. Tarquinio DC, Hou W, Neul JL, et al. The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain Dev. 2018;40(7):515-529. 6. Wong K, Leonard H, Jacoby P, et al. The trajectories of sleep disturbances in Rett syndrome. J Sleep Res. 2015;24:223-233. 7. Killian JT, Lane JB, Lee HS, et al. Scoliosis in Rett syndrome: progression, comorbidities, and predictors. Pediatr Neurol. 2017;70:20-25. 8. Palacios-Ceña D, Famoso-Pérez P, Salom-Moreno J, et al. "Living an obstacle course": a qualitative study examining the experiences of caregivers of children with Rett syndrome. Int J Environ Res Public Health. 2019;16(41):1-13.