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 i...
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| Language: | English |
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BMJ Publishing Group
2020-02-01
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| Series: | BMJ Paediatrics Open |
| Online Access: | https://bmjpaedsopen.bmj.com/content/4/1/e000731.full |
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| author | Mary Jones Cary Fu Dallas Armstrong Eric Marsh David Lieberman Kathleen Motil Rochelle Witt Shannon Standridge Jane Lane Tristen Dinkel Katie Hale Bernhard Suter Daniel Glaze Jeffrey Neul Alan Percy Timothy Benke |
| author_facet | Mary Jones Cary Fu Dallas Armstrong Eric Marsh David Lieberman Kathleen Motil Rochelle Witt Shannon Standridge Jane Lane Tristen Dinkel Katie Hale Bernhard Suter Daniel Glaze Jeffrey Neul Alan Percy Timothy Benke |
| author_sort | Mary Jones |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-a8e20e339f0749668024cf0597cea132 |
| institution | DOAJ |
| issn | 2399-9772 |
| language | English |
| publishDate | 2020-02-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Paediatrics Open |
| spelling | doaj-art-a8e20e339f0749668024cf0597cea1322025-08-20T02:49:09ZengBMJ Publishing GroupBMJ Paediatrics Open2399-97722020-02-014110.1136/bmjpo-2020-000731Multisystem comorbidities in classic Rett syndrome: a scoping reviewMary Jones0Cary Fu1Dallas Armstrong2Eric Marsh3David Lieberman4Kathleen Motil5Rochelle Witt6Shannon Standridge7Jane Lane8Tristen Dinkel9Katie Hale10Bernhard Suter11Daniel Glaze12Jeffrey Neul13Alan Percy14Timothy Benke154 Royal Berkshire Foundation Trust, Reading, UKPediatrics and Neurology, Vanderbilt University Medical Center, Nashville, Tennessee, USANeurology, The Children`s Hospital of Philadelphia, Philadelphia, Pennsylvania, USANeurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USANeurology, Boston Children`s Hospital, Boston, Massachusetts, USAPediatrics, Baylor College of Medicine, Houston, Texas, USANeurology, Boston Children`s Hospital, Boston, Massachusetts, USAPediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USAUniversity of Alabama at Birmingham, School of Medicine, Civitan International Research Center, Birmingham, Alabama, USANeurology, Children`s Hospital Colorado, Aurora, Colorado, USAPediatric Medicine, UCSF Benioff Children`s Hospital Oakland, Oakland, California, USAPediatrics and Neurology, Baylor College of Medicine, Houston, Texas, USANeurology, Texas Children`s Hospital, Houston, Texas, USAVanderbilt Kennedy Center, Nashville, Tennessee, USAPediatrics, Neurology, Neurobiology, Genetics, and Psychology, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USANeurology, Children`s Hospital Colorado, Aurora, Colorado, USABackground 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.https://bmjpaedsopen.bmj.com/content/4/1/e000731.full |
| spellingShingle | Mary Jones Cary Fu Dallas Armstrong Eric Marsh David Lieberman Kathleen Motil Rochelle Witt Shannon Standridge Jane Lane Tristen Dinkel Katie Hale Bernhard Suter Daniel Glaze Jeffrey Neul Alan Percy Timothy Benke Multisystem comorbidities in classic Rett syndrome: a scoping review BMJ Paediatrics Open |
| 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 |
| url | https://bmjpaedsopen.bmj.com/content/4/1/e000731.full |
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