SpringerLink
Log in

Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study

  • Original Article
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Purpose

To identify MRI-based quantitative craniofacial variables linked to airways narrowing and obstructive sleep apnea (OSA) development in children with achondroplasia.

Methods

We evaluated skull base and midface MRI in two cohorts of children affected by achondroplasia, with (group 1) or without OSA (group 2). 3DFSPGR-T1weighted images were used to assess airways volume (nasopharynx, oropharynx, and laryngopharynx), jugular foramina (JF) and hypoglossal foramina (HF) areas, foramen magnum area, cervical cord area, and maxillary retrusion (SNA angle).

Results

Nineteen out of 27 children with achondroplasia exhibited different degrees of obstructive respiratory impairment (n.4 mild, n.8 moderate, n.7 severe), while 8 children did not show OSA. Each group was compared with age-matched controls without neuroimaging abnormalities. Both groups showed reduced nasopharynx volume, JF areas, and SNA angle, while group 1 showed also reduced oropharynx volume, ratio of FM/cervical cord areas, and HF areas (p < 0.05). A positive correlation between nasopharynx volume and SNA angle was found in both groups, while a positive correlation among upper airways volume, JF and HF areas was found only in group 1. No correlation between upper airways volume and OSA severity was found.

Conclusion

In children with achondroplasia, multifaced craniofacial abnormalities contribute to airways volume reduction predisposing to sleep disordered breathing. MRI-based quantitative assessment allows the appraisal of craniofacial variables linked to the development of sleep-disordered breathing such as FM stenosis, jugular and hypoglossal foramina stenosis, and retruded maxillary position and may be a valuable tool for clinical surveillance.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price includes VAT (Germany)

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Booth KL, Levy DA, White DR et al (2020) Management of obstructive sleep apnea in children with achondroplasia: outcomes of surgical interventions. Int J Pediatr Otorhinolaryngol 138:110332

  2. Susarla SM, Mundinger GS, Kapadia H et al (2017) Subcranial and orthognathic surgery for obstructive sleep apnea in achondroplasia. J Craniomaxillofac Surg 45:2028–2034

    Article  Google Scholar 

  3. Afsharpaiman S, Sillence DO, Sheikhvatan M et al (2011) Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep Breath 15:755–761

    Article  Google Scholar 

  4. Okenfuss E, Moghaddam B, Avins AL (2020) Natural history of achondroplasia: a retrospective review of longitudinal clinical data. Am J Med Genet A 182:2540–2551

    Article  Google Scholar 

  5. Tenconi R, Khirani S, Amaddeo A et al (2017) Sleep-disordered breathing and its management in children with achondroplasia. Am J Med Genet A 173:868–878

    Article  Google Scholar 

  6. Tasker RC, Dundas I, Laverty A et al (1998) Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child 79:99–108

    Article  CAS  Google Scholar 

  7. Onodera K, Niikuni N, Chigono T et al (2006) Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. Int J Pediatr Otorhinolaryngol 70:453–461

  8. Cocca A, Thompson D, Rahim Z et al (2020) Centrally mediated obstructive apnoea and restenosis of the foramen magnum in an infant with achondroplasia. Br J Neurosurg 1–4

  9. Roland PS, Rosenfeld RM, Brooks LJ et al (2011) Clinical practice guideline: Polysomnography for sleep-disordered breathing prior to tonsillectomy in children. Otolaryngol Head Neck Surg 145:S1-15

    Article  Google Scholar 

  10. Brodsky L, Moore L, Stanievich JF (1987) A comparison of tonsillar size and oropharyngeal dimensions in children with obstructive adenotonsillar hypertrophy. Int J Pediatr Otorhinolaryngol 13:149–156

    Article  CAS  Google Scholar 

  11. Calandrelli R, Pilato F, Massimi L et al (2018) Quantitative evaluation of facial hypoplasia and airway obstruction in infants with syndromic craniosynostosis: relationship with skull base and splanchnocranium sutural pattern. Neuroradiology 60:517–528

    Article  Google Scholar 

  12. Zaffanello M, Piacentini G, Sacchetto L et al (2018) Sleep-disordered breathing in children with rare skeletal disorders: a survey of clinical records. Med Princ Pract 27:451–458

    Article  Google Scholar 

  13. Sano M, Takahashi N, Nagasaki K et al (2018) Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia. Childs Nerv Syst 34:2275–2281

    Article  Google Scholar 

  14. Calandrelli R, Panfili M, D’Apolito G et al (2017) Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. Neuroradiology 59:1031–1041

    Article  Google Scholar 

  15. Sarioglu FC, Sarioglu O, Guleryuz H (2020) Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol 50:1669–1679

    Article  Google Scholar 

  16. Al-Saleem A, Al-Jobair A (2010) Achondroplasia: Craniofacial manifestations and considerations in dental management. Saudi Dent J 22:195–199

    Article  Google Scholar 

  17. Langford RJ, Sgouros S, Natarajan K et al (2003) Maxillary volume growth in childhood. Plast Reconstr Surg 111:1591–1597

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Radiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy

    Rosalinda Calandrelli, Gabriella D’Apolito, Lorenzo Tenore & Cesare Colosimo

  2. Unit of Neurology, Department of Medicine, Neurophysiology, Campus Bio-Medico University, Rome, Neurobiology, Italy

    Fabio Pilato

  3. Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy

    Roberta Onesimo, Chiara Leoni & Giuseppe Zampino

  4. Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli-IRCCS, Rome, Italy

    Roberta Onesimo, Chiara Leoni & Giuseppe Zampino

  5. Catholic University of Sacred Heart, Rome, Italy

    Giuseppe Zampino & Cesare Colosimo

Authors
  1. Rosalinda Calandrelli
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Fabio Pilato
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Gabriella D’Apolito
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Lorenzo Tenore
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Roberta Onesimo
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Chiara Leoni
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Giuseppe Zampino
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Cesare Colosimo
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Fabio Pilato.

Ethics declarations

Ethics approval

We declare that all procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study, formal consent is not required.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Conflict of interest

Rosalinda Calandrelli declares that she has no conflict of interest. Fabio Pilato declares that he has no conflict of interest. Gabriella D’Apolito declares that she has no conflict of interest. Lorenzo Tenore declares that he has no conflict of interest. Roberta Onesimo declares that she has no conflict of interest. Chiara Leoni declares that she has no conflict of interest. Giuseppe Zampino declares that he has no conflict of interest. Cesare Colosimo declares that he is scientific consultant for Bracco Diagnostics Inc. and Bayer HealthCare.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Calandrelli, R., Pilato, F., D’Apolito, G. et al. Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study. Childs Nerv Syst 38, 1147–1154 (2022). https://doi.org/10.1007/s00381-022-05484-w

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-022-05484-w

Keywords

Search

Navigation