Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD.

Autor: Zelko FA; Pritzker Department of Psychiatry and Behavioral Health, Ann & Robert H. Lurie Children's Hospital of Chicago, Box 10B, 225 East Chicago, Chicago, IL, 60611, USA. fzelko@luriechildrens.org.; Northwestern University Feinberg School of Medicine, Chicago, IL, USA. fzelko@luriechildrens.org., Welbel RZ; Department of Pediatrics, Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA., Rand CM; Department of Pediatrics, Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA., Stewart T; Department of Pediatrics, Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA., Fadl-Alla A; Department of Pediatrics, Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA., Khaytin I; Department of Pediatrics, Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA., Slattery SM; Department of Pediatrics, Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA., Weese-Mayer DE; Department of Pediatrics, Division of Autonomic Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago and Stanley Manne Children's Research Institute, Chicago, IL, USA.
Jazyk: angličtina
Zdroj: Clinical autonomic research : official journal of the Clinical Autonomic Research Society [Clin Auton Res] 2023 Jun; Vol. 33 (3), pp. 217-230. Date of Electronic Publication: 2022 Oct 27.
DOI: 10.1007/s10286-022-00901-1
Abstrakt: Purpose: Congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) are rare disorders of autonomic regulation with risk for disrupted neurocognitive development. Our aim is to summarize research on neurocognitive outcomes in these conditions, advance understanding of how to best support these individuals throughout development, and facilitate future research.
Methods: We conducted a narrative review of literature on neurocognitive outcomes in CCHS and ROHHAD, supplemented with previously unpublished data from patients with CCHS and ROHHAD at our Center for Autonomic Medicine in Pediatrics (CAMP).
Results: Individuals with CCHS and ROHHAD experience a wide range of neurocognitive functioning ranging from above average to below average, but are at particular risk for difficulties with working memory, processing speed, perceptual reasoning, and visuographic skills. An assessment framework emphasizing fluid cognition seems especially appropriate for these conditions. Owing to small cohorts and varied methods of data collection, it has been difficult to identify associations between disease factors (including CCHS PHOX2B genotypes) and cognitive outcomes. However, results suggest that early childhood is a period of particular vulnerability, perhaps due to the disruptive impact of recurrent intermittent hypoxic episodes on brain and cognitive development.
Conclusion: Neurocognitive monitoring is recommended as a component of routine clinical care in CCHS and ROHHAD as a marker of disease status and to ensure that educational support and disability accommodations are provided as early as possible. Collaborative efforts will be essential to obtain samples needed to enhance our understanding of neurocognitive outcomes in CCHS and ROHHAD.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)
Databáze: MEDLINE
Externí odkaz: