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Clinical Autonomic Research
Erschienen in: Clinical Autonomic Research 3/2023

27.10.2022 | Review Article

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

verfasst von: Frank A. Zelko, Remi Z. Welbel, Casey M. Rand, Tracey Stewart, Allaa Fadl-Alla, Ilya Khaytin, Susan M. Slattery, Debra E. Weese-Mayer

Erschienen in: Clinical Autonomic Research | Ausgabe 3/2023

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Abstract

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conducted a narrative review of literature on neurocognitive outcomes in CCHS and ROHHAD, supplemented with previously unpublished data from patients with CCHS and ROHHAD at our Center for Autonomic Medicine in Pediatrics (CAMP).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.
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Metadaten
Titel
Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD
verfasst von
Frank A. Zelko
Remi Z. Welbel
Casey M. Rand
Tracey Stewart
Allaa Fadl-Alla
Ilya Khaytin
Susan M. Slattery
Debra E. Weese-Mayer
Publikationsdatum
27.10.2022
Verlag
Springer Berlin Heidelberg
Erschienen in
Clinical Autonomic Research / Ausgabe 3/2023
Print ISSN: 0959-9851
Elektronische ISSN: 1619-1560
DOI
https://doi.org/10.1007/s10286-022-00901-1

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