Consensus guidelines on managing Rett syndrome across the lifespan

Cary Fu; Dallas Armstrong; Eric Marsh; David Lieberman; Kathleen Motil; Rochelle Witt; Shannon Standridge; Paige Nues; Jane Lane; Tristen Dinkel; Monica Coenraads; Jana von Hehn; Mary Jones; Katie Hale; Bernhard Suter; Daniel Glaze; Jeffrey Neul; Alan Percy; Timothy Benke

doi:10.1136/bmjpo-2020-000717

Consensus guidelines on managing Rett syndrome across the lifespan

BMJ Paediatr Open. 2020 Sep 13;4(1):e000717. doi: 10.1136/bmjpo-2020-000717. eCollection 2020.

Authors

Cary Fu¹, Dallas Armstrong^{2

3}, Eric Marsh^{2

3}, David Lieberman⁴, Kathleen Motil^{5

6}, Rochelle Witt⁴, Shannon Standridge^{7

8}, Paige Nues⁹, Jane Lane¹⁰, Tristen Dinkel¹¹, Monica Coenraads¹², Jana von Hehn¹², Mary Jones¹³, Katie Hale¹³, Bernhard Suter^{14

15}, Daniel Glaze^{14

15}, Jeffrey Neul^{16

17}, Alan Percy¹⁸, Timothy Benke^{11

19}

Affiliations

¹ Pediatrics and Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
² Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
³ Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
⁴ Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
⁵ Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
⁶ Children's Nutrition Research Center, USDA ARS, Houston, Texas, USA.
⁷ Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
⁸ Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
⁹ International Rett Syndrome Foundation, Cincinnati, Ohio, USA.
¹⁰ Civitan International Research Center, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA.
¹¹ Neurology, Children's Hospital Colorado, Aurora, Colorado, USA.
¹² Rett Syndrome Research Trust, New York, New York, USA.
¹³ Pediatric Medicine, UCSF Benioff Children's Hospital Oakland, Oakland, California, USA.
¹⁴ Pediatrics and Neurology, Baylor College of Medicine, Houston, Texas, USA.
¹⁵ Neurology, Texas Children's Hospital, Houston, Texas, USA.
¹⁶ Vanderbilt Kennedy Center, Nashville, Tennessee, USA.
¹⁷ Pediatrics, Pharmacology, and Special Education, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
¹⁸ Pediatrics, Neurology, Neurobiology, Genetics, and Psychology, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA.
¹⁹ Pediatrics, Pharmacology, Neurology, Otolaryngology, University of Colorado Denver School of Medicine, Aurora, Colorado, USA.

Abstract

Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns.

Methods: Informed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.

Results: Typical RTT presents early in childhood in a clinically recognisable fashion. Multisystem comorbidities evolve throughout the lifespan requiring coordination of care between primary care and often multiple subspecialty providers. To assist health professionals and families in seeking best practice, a checklist and detailed references for guidance were developed by consensus.

Conclusions: The overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. Given the median life expectancy well into the sixth decade, guidance is provided to health professionals to achieve current best possible outcomes for these special-needs individuals.

Keywords: gastroenterology; genetics; neurology; rehabilitation; syndrome.

Grants and funding

U54 HD061222/HD/NICHD NIH HHS/United States