TY - JOUR
T1 - Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
AU - Slattery, Susan M.
AU - Perez, Iris A.
AU - Ceccherini, Isabella
AU - Chen, Maida L.
AU - Kurek, Kyle C.
AU - Yap, Kai Lee
AU - Keens, Thomas G.
AU - Khaytin, Ilya
AU - Ballard, Heather A.
AU - Sokol, Elizabeth A.
AU - Mittal, Angeli
AU - Rand, Casey M.
AU - Weese-Mayer, Debra E.
N1 - Funding Information:
The authors thank Tracey M. Stewart, RRT, Technical Director of the Center for Autonomic Medicine in Pediatrics, and Alison Osborne, APN on HSCR Surgical Team, at Ann & Robert H. Lurie Children’s Hospital, Chicago, IL, USA, for their clinical contributions to the detailed explanations in this review.
Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.
PY - 2023/6
Y1 - 2023/6
N2 - Purpose: With contemporaneous advances in congenital central hypoventilation syndrome (CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and conservative management to reduce the risk of early morbidity and mortality, the prevalence of identified adolescents and young adults with CCHS and later-onset (LO-) CCHS has increased. Accordingly, there is heightened awareness and need for transitional care of these patients from pediatric medicine into a multidisciplinary adult medical team. Hence, this review summarizes key clinical and management considerations for patients with CCHS and LO-CCHS and emphasizes topics of particular importance for this demographic. Methods: We performed a systematic review of literature on diagnostics, pathophysiology, and clinical management in CCHS and LO-CCHS, and supplemented the review with anecdotal but extensive experiences from large academic pediatric centers with expertise in CCHS. Results: We summarized our findings topically for an overview of the medical care in CCHS and LO-CCHS specifically applicable to adolescents and adults. Care topics include genetic and embryologic basis of the disease, clinical presentation, management, variability in autonomic nervous system dysfunction, and clarity regarding transitional care with unique considerations such as living independently, family planning, exposure to anesthesia, and alcohol and drug use. Conclusions: While a lack of experience and evidence exists in the care of adults with CCHS and LO-CCHS, a review of the relevant literature and expert consensus provides guidance for transitional care areas.
AB - Purpose: With contemporaneous advances in congenital central hypoventilation syndrome (CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and conservative management to reduce the risk of early morbidity and mortality, the prevalence of identified adolescents and young adults with CCHS and later-onset (LO-) CCHS has increased. Accordingly, there is heightened awareness and need for transitional care of these patients from pediatric medicine into a multidisciplinary adult medical team. Hence, this review summarizes key clinical and management considerations for patients with CCHS and LO-CCHS and emphasizes topics of particular importance for this demographic. Methods: We performed a systematic review of literature on diagnostics, pathophysiology, and clinical management in CCHS and LO-CCHS, and supplemented the review with anecdotal but extensive experiences from large academic pediatric centers with expertise in CCHS. Results: We summarized our findings topically for an overview of the medical care in CCHS and LO-CCHS specifically applicable to adolescents and adults. Care topics include genetic and embryologic basis of the disease, clinical presentation, management, variability in autonomic nervous system dysfunction, and clarity regarding transitional care with unique considerations such as living independently, family planning, exposure to anesthesia, and alcohol and drug use. Conclusions: While a lack of experience and evidence exists in the care of adults with CCHS and LO-CCHS, a review of the relevant literature and expert consensus provides guidance for transitional care areas.
KW - Autonomic nervous system dysfunction
KW - CCHS
KW - Congenital central hypoventilation syndrome
KW - PHOX2B
KW - Phrenic nerve-diaphragm pacers
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U2 - 10.1007/s10286-022-00908-8
DO - 10.1007/s10286-022-00908-8
M3 - Review article
C2 - 36403185
AN - SCOPUS:85142219120
SN - 0959-9851
VL - 33
SP - 231
EP - 249
JO - Clinical Autonomic Research
JF - Clinical Autonomic Research
IS - 3
ER -