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. 2025 Jan 23;29(1):88.
doi: 10.1007/s11325-025-03254-x.

Evolution of sleep disordered breathing in infants with achondroplasia

Janet M Legare #  1 , David G Ingram #  2 , Richard M Pauli  3 , Jacqueline T Hecht  4 , Lorena Dujmusic  3 , David F Rodriguez-Buritica  4 , Jeffrey W Campbell  5 , Peggy Modaff  3 , Mary E Little  5 , Cory J Smid  3 , Maria E Serna  4 , Michael B Bober  5 , Julie E Hoover-Fong  6 , S Shahrukh Hashmi  4
Affiliations

Evolution of sleep disordered breathing in infants with achondroplasia

Janet M Legare et al. Sleep Breath. .

Abstract

Purpose: Children with achondroplasia (ACH) are at risk for sudden death in infancy due to sleep disordered breathing (SDB) and foramen magnum stenosis (FMS). Sleep studies and neuroimaging are performed in infants with ACH, but interpretation of infant studies is challenging. We sought to describe baseline data on polysomnography (PSG) indices in infants with achondroplasia as well as effects of age and surgery on these parameters.

Methods: Retrospective data were abstracted from the multisite CLARITY ACH database from years 2008-2017. Both obstructive apnea hypopnea index (OAHI) and central apnea index (CAI) were extracted, and effects of age and surgical intervention (adenoidectomy [AD] or cervicomedullary decompression [CMD]) were analyzed.

Results: 172 PSGs from 86 infants were analyzed. In surgically naive children, OAHI decreased over the first year but then increased in the second year, while CAI was mostly stagnant over the first two years. There were no significant differences between age at first PSG or PSG indices for surgically naive infants versus those who underwent AD or CMD. OAHI decreased after AD and CAI decreased after CMD.

Conclusion: Similar to average stature infants, our results demonstrate the need to interpret sleep study findings of children with ACH in the context of age, particularly for obstructive indices. Neither OAHI nor CAI differentiated those infants who subsequently underwent surgery, suggesting that there were other important clinical factors in the surgical decision-making process. Independent of age, AD resulted in improvement in OSA and CMD with improvement in central sleep apnea.

Keywords: Achondroplasia; Adenoidectomy; Cervicomedullary decompression; Infant polysomnogram.

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Conflict of interest statement

Declarations. Ethical approval: Institutional Review Board approval for the multi-institutional CLARITY study was obtained from the four participating sites: Johns Hopkins University (JHU) (coordinating site); McGovern Medical School at University of Texas Health (UTH); Nemours Children’s Hospital, Delaware (NCH); and University of Wisconsin (UW). The study was performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. Informed consent: Patients signed a locally approved informed consent form if they sought care over the data collection period. Subjects who could not be reached during the data collection period were included in the cohort under a waiver of consent. This process was approved by the local Institutional Review Board at each participating institution (Johns Hopkins University (Baltimore, MD; coordinating site), AI DuPont Hospital for Children (Wilmington, DE), McGovern Medical School at the University of Texas Health (Houston, TX), and University of Wisconsin (Madison, WI). Conflict of interest: This is an investigator‑initiated independent research study supported, in part, by BioMarin, Inc. The data presented in this paper do not pertain to the investigational pharmaceuticals under development by BioMarin, Ascendis, Therachon, or QED. These following competing activities were reviewed and approved by our institutions. J.E.H.‑F. has participated in Advisory Boards sponsored by BioMarin pertaining to achondroplasia. J.E.H.‑F. has been consulted by BioMarin, Alexion, Therachon/Pfizer, QED, Innoskel and NovoNordisk for clinical issues related to achondroplasia and other genetic skeletal conditions and acts as a site principal investigator (PI) for clinical trials for BioMarin, Therachon/Pfizer and QED. M.B.B. is now an employee of Tyra pharmaceuticals. J.T.H. has participated in Advisory Boards pertaining to achondroplasia sponsored by BioMarin. D.R.‑B. has participated in Advisory Boards pertaining to achondroplasia sponsored by BioMarin and has lectured for BioMarin. J.L. is a site PI for Ascendis and QED and is a paid speaker and consultant for BioMarin. The other authors declare no competing interests.

References

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