Cargando…

Multisystem comorbidities in classic Rett syndrome: a scoping review

BACKGROUND: Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient’s lifespan requiring attentive coordination of subspecialty care by primary care providers. A comprehensive, up-to-date synthesis of medical comorbidities...

Descripción completa

Detalles Bibliográficos
Autores principales: Fu, Cary, Armstrong, Dallas, Marsh, Eric, Lieberman, David, Motil, Kathleen, Witt, Rochelle, Standridge, Shannon, Lane, Jane, Dinkel, Tristen, Jones, Mary, Hale, Katie, Suter, Bernhard, Glaze, Daniel, Neul, Jeffrey, Percy, Alan, Benke, Timothy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509967/
https://www.ncbi.nlm.nih.gov/pubmed/33024833
http://dx.doi.org/10.1136/bmjpo-2020-000731
_version_ 1783585696456376320
author Fu, Cary
Armstrong, Dallas
Marsh, Eric
Lieberman, David
Motil, Kathleen
Witt, Rochelle
Standridge, Shannon
Lane, Jane
Dinkel, Tristen
Jones, Mary
Hale, Katie
Suter, Bernhard
Glaze, Daniel
Neul, Jeffrey
Percy, Alan
Benke, Timothy
author_facet Fu, Cary
Armstrong, Dallas
Marsh, Eric
Lieberman, David
Motil, Kathleen
Witt, Rochelle
Standridge, Shannon
Lane, Jane
Dinkel, Tristen
Jones, Mary
Hale, Katie
Suter, Bernhard
Glaze, Daniel
Neul, Jeffrey
Percy, Alan
Benke, Timothy
author_sort Fu, Cary
collection PubMed
description BACKGROUND: Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient’s lifespan requiring attentive coordination of subspecialty care by primary care providers. A comprehensive, up-to-date synthesis of medical comorbidities in RTT would aid care coordination and anticipatory guidance efforts by healthcare providers. Our objective was to review and summarise published evidence regarding prevalence of RTT medical comorbidities across all relevant organ systems. METHODS: Search of PubMed from January 2000 to July 2019 was performed using the search terms (Rett and MECP2 AND patient) OR (Rett and MECP2 AND cohort). Articles reporting the prevalence of clinical findings in RTT were assessed with respect to the size and nature of the cohorts interrogated and their relevance to clinical care. RESULTS: After review of over 800 records, the multisystem comorbidities of RTT were summarised quantitatively from 18 records comprising both retrospective and prospective cohorts (31–983 subjects). Neurological comorbidities had the highest prevalence, occurring in nearly all individuals with gastrointestinal and orthopaedic concerns almost as prevalent as neurological. With the exception of low bone mineral content which was relatively common, endocrine comorbidities were seen in only around one-third of patients. Although more prevalent compared with the general population, cardiac conduction abnormalities were the least common comorbidity in RTT. CONCLUSIONS: Effective care coordination for RTT requires knowledge of and attention to multiple comorbidities across multiple unrelated organ systems. Many issues common to RTT can potentially be managed by a primary care provider but the need for sub-specialist referral can be anticipated. Since the median life expectancy extends into the sixth decade with evolving subspecialty requirements throughout this time, paediatric providers may be tasked with continued coordination of these comorbidities or transitioning to adult medicine and specialists with experience managing individuals with complex medical needs.
format Online
Article
Text
id pubmed-7509967
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher BMJ Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-75099672020-10-05 Multisystem comorbidities in classic Rett syndrome: a scoping review Fu, Cary Armstrong, Dallas Marsh, Eric Lieberman, David Motil, Kathleen Witt, Rochelle Standridge, Shannon Lane, Jane Dinkel, Tristen Jones, Mary Hale, Katie Suter, Bernhard Glaze, Daniel Neul, Jeffrey Percy, Alan Benke, Timothy BMJ Paediatr Open Review BACKGROUND: Rett syndrome (RTT) is a severe, progressive neurodevelopmental disorder with multisystem comorbidities that evolve across a patient’s lifespan requiring attentive coordination of subspecialty care by primary care providers. A comprehensive, up-to-date synthesis of medical comorbidities in RTT would aid care coordination and anticipatory guidance efforts by healthcare providers. Our objective was to review and summarise published evidence regarding prevalence of RTT medical comorbidities across all relevant organ systems. METHODS: Search of PubMed from January 2000 to July 2019 was performed using the search terms (Rett and MECP2 AND patient) OR (Rett and MECP2 AND cohort). Articles reporting the prevalence of clinical findings in RTT were assessed with respect to the size and nature of the cohorts interrogated and their relevance to clinical care. RESULTS: After review of over 800 records, the multisystem comorbidities of RTT were summarised quantitatively from 18 records comprising both retrospective and prospective cohorts (31–983 subjects). Neurological comorbidities had the highest prevalence, occurring in nearly all individuals with gastrointestinal and orthopaedic concerns almost as prevalent as neurological. With the exception of low bone mineral content which was relatively common, endocrine comorbidities were seen in only around one-third of patients. Although more prevalent compared with the general population, cardiac conduction abnormalities were the least common comorbidity in RTT. CONCLUSIONS: Effective care coordination for RTT requires knowledge of and attention to multiple comorbidities across multiple unrelated organ systems. Many issues common to RTT can potentially be managed by a primary care provider but the need for sub-specialist referral can be anticipated. Since the median life expectancy extends into the sixth decade with evolving subspecialty requirements throughout this time, paediatric providers may be tasked with continued coordination of these comorbidities or transitioning to adult medicine and specialists with experience managing individuals with complex medical needs. BMJ Publishing Group 2020-09-22 /pmc/articles/PMC7509967/ /pubmed/33024833 http://dx.doi.org/10.1136/bmjpo-2020-000731 Text en © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Review
Fu, Cary
Armstrong, Dallas
Marsh, Eric
Lieberman, David
Motil, Kathleen
Witt, Rochelle
Standridge, Shannon
Lane, Jane
Dinkel, Tristen
Jones, Mary
Hale, Katie
Suter, Bernhard
Glaze, Daniel
Neul, Jeffrey
Percy, Alan
Benke, Timothy
Multisystem comorbidities in classic Rett syndrome: a scoping review
title Multisystem comorbidities in classic Rett syndrome: a scoping review
title_full Multisystem comorbidities in classic Rett syndrome: a scoping review
title_fullStr Multisystem comorbidities in classic Rett syndrome: a scoping review
title_full_unstemmed Multisystem comorbidities in classic Rett syndrome: a scoping review
title_short Multisystem comorbidities in classic Rett syndrome: a scoping review
title_sort multisystem comorbidities in classic rett syndrome: a scoping review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7509967/
https://www.ncbi.nlm.nih.gov/pubmed/33024833
http://dx.doi.org/10.1136/bmjpo-2020-000731
work_keys_str_mv AT fucary multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT armstrongdallas multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT marsheric multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT liebermandavid multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT motilkathleen multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT wittrochelle multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT standridgeshannon multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT lanejane multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT dinkeltristen multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT jonesmary multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT halekatie multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT suterbernhard multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT glazedaniel multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT neuljeffrey multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT percyalan multisystemcomorbiditiesinclassicrettsyndromeascopingreview
AT benketimothy multisystemcomorbiditiesinclassicrettsyndromeascopingreview