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Original Research: Pediatrics |

Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children

Aaron J. Charnay, BS; Jeanne E. Antisdel-Lomaglio, PhD; Frank A. Zelko, PhD; Casey M. Rand, BS; Michele Le, BS; Samantha C. Gordon, BS; Sally F. Vitez, BS; Jennifer W. Tse, BS; Cindy D. Brogadir, RRT; Michael N. Nelson, PhD; Elizabeth M. Berry-Kravis, MD, PhD; Debra E. Weese-Mayer, MD
Author and Funding Information

FUNDING/SUPPORT: Mr Charnay and Mss Vitez and Samantha Gordon were American Pediatric Society/Society for Pediatric Research Student Summer Research Fellows. Mr Rand was funded in part by the Chicago Community Trust PHOX2B Patent Fund.

CORRESPONDENCE TO: Jeanne E. Antisdel-Lomaglio, PhD, Department of Psychiatry, Ann & Robert H. Lurie Children’s Hospital of Chicago, 225 East Chicago Ave, Chicago, IL 60611


Copyright 2016, American College of Chest Physicians. All Rights Reserved.


Chest. 2016;149(3):809-815. doi:10.1378/chest.15-0402
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Background  Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by severe hypoventilation and autonomic dysregulation, with typical presentation in the neonatal period, and deficient cognitive skills in school-aged patients. We hypothesized that younger (preschool) children with CCHS would also show neurocognitive delay and that CCHS-related physiologic factors would impact neurocognitive test results.

Methods  We studied developmental (Bayley) test results collected during routine clinical care in 31 children (mean age 25.0 ± 8.5 months; range, 6-40 months) with PHOX2B mutation-confirmed CCHS by comparing them with the normative reference mean from the Bayley standardization sample; we also examined associations between Bayley scores and CCHS disease-related factors.

Results  Preschool patients with CCHS fell significantly below the normative mean of 100 on Bayley indices of mental (mean, 83.35 ± 24.75) and motor (mean, 73.33 ± 20.48) development (P < .001 for both). Significantly lower Bayley mental and motor scores were associated with severe breath-holding spells, prolonged sinus pauses, and need for 24 h/d artificial ventilation. Lower Bayley motor scores were also associated with seizures. Bayley scores differed among children with the three most common polyalanine repeat expansion mutation genotypes (mental, P = .001; motor, P = .006), being essentially normal in children with the 20/25 genotype but significantly lower in the other genotype groups (P < .05).

Conclusions  These results confirm neurodevelopmental impairment of CCHS preschoolers, with severity related to physiologic compromise and PHOX2B genotype. These findings suggest that adverse effects begin early in the disease process, supporting the need for neurodevelopmental monitoring and intervention from early infancy.


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