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Dyspnea in young subjects with congenital central hypoventilation syndrome

  • Clinical Research Article
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Abstract

Background

It has been stated that patients with congenital central hypoventilation syndrome (CCHS) do not perceive dyspnea, which could be related to defective CO2 chemosensitivity.

Methods

We retrospectively selected the data of six-minute walk tests (6-MWT, n = 30), cardiopulmonary exercise test (CPET, n = 5) of 30 subjects with CCHS (median age, 9.3 years, 17 females) who had both peripheral (controller loop gain, CG0) and central CO2 chemosensitivity (hyperoxic, hypercapnic response test [HHRT]) measurement.

Main results

Ten subjects had no symptom during the HHRT, as compared to the 20 subjects exhibiting symptoms, their median ages were 14.7 versus 8.8 years (p = 0.006), their maximal PETCO2 were 71.6 versus 66.7 mmHg (p = 0.007), their median CO2 response slopes were 0.28 versus 0.30 L/min/mmHg (p = 0.533) and their CG0 values were 0.75 versus 0.50 L/min/mmHg (p = 0.567). Median dyspnea Borg score at the end of the 6-MWT was 1/10 (17/30 subjects >0), while at the end of the CPET it was 3/10 (sensation: effort). This Borg score positively correlated with arterial desaturation at walk (R = 0.43; p = 0.016) and did not independently correlate with CO2 chemosensitivities.

Conclusion

About half of young subjects with CCHS do exhibit mild dyspnea at walk, which is not related to hypercapnia or residual CO2 chemosensitivity.

Impact

  • Young subjects with CCHS exhibit some degree of dyspnea under CO2 exposure and on exercise that is not related to residual CO2 chemosensitivity.

  • It has been stated that patients with CCHS do not perceive sensations of dyspnea, which must be tempered.

  • The mild degree of exertional dyspnea can serve as an indicator for the necessity of breaks.

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Data availability

The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Funding

Funding

This retrospective study was not founded.

Author information

Authors and Affiliations

  1. Université de Paris, AP-HP, Hôpital Robert Debré, Service de Physiologie Pédiatrique -Centre du Sommeil - CRMR Hypoventilations alvéolaires rares, INSERM NeuroDiderot, F-75019, Paris, France

    Plamen Bokov, Benjamin Dudoignon & Christophe Delclaux

  2. AP-HP, Hôpital Robert Debré, Service de Physiologie Pédiatrique, F-75019, Paris, France

    Rodrigue Fikiri Bavurhe

  3. AP-HP, Hôpital Robert Debré, Département de génétique, F-75019, Paris, France

    Nathalie Couque

  4. Université de Paris, INSERM NeuroDiderot, F-75019, Paris, France

    Boris Matrot

Authors
  1. Plamen Bokov
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  2. Benjamin Dudoignon
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  3. Rodrigue Fikiri Bavurhe
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  4. Nathalie Couque
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  5. Boris Matrot
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  6. Christophe Delclaux
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Contributions

Substantial contributions to conception and design (PB, CD2), acquisition of data (PB, BD, RFB, CD2), or analysis and interpretation of data (NC, BM, CD2) Drafting the article (PB, CD2) or revising it critically for important intellectual content (BD, RFB, NC, BM) Final approval of the version to be published (all authors).

Corresponding author

Correspondence to Christophe Delclaux.

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Bokov, P., Dudoignon, B., Fikiri Bavurhe, R. et al. Dyspnea in young subjects with congenital central hypoventilation syndrome. Pediatr Res (2024). https://doi.org/10.1038/s41390-024-03305-1

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