Screening and surgery for foramen magnum stenosis in children with achondroplasia: a large, national database analysis

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OBJECTIVE

The goal of this study was to determine the rates of screening and surgery for foramen magnum stenosis in children with achondroplasia in a large, privately insured healthcare network.

METHODS

Rates of screening and surgery for foramen magnum stenosis in children with achondroplasia were determined using de-identified insurance claims data from a large, privately insured healthcare network of over 58 million beneficiaries across the United States between 2001 and 2014. Cases of achondroplasia and screening and surgery claims were identified using a combination of International Classification of Diseases diagnosis codes and Current Procedural Terminology codes. American Academy of Pediatrics (AAP) practice guidelines were used to determine screening trends.

RESULTS

The search yielded 3577 children age 19 years or younger with achondroplasia. Of them, 236 met criteria for inclusion in the screening analysis. Among the screening cohort, 41.9% received some form of screening for foramen magnum stenosis, whereas 13.9% of patients were fully and appropriately screened according to the 2005 guidelines from the AAP. The screening rate significantly increased after the issuance of the AAP guidelines. Among all children in the cohort, 25 underwent cervicomedullary decompression for foramen magnum stenosis. The incidence rate of undergoing cervicomedullary decompression was highest in infancy (28 per 1000 patient-years) and decreased with age (5 per 1000 patient-years for all other ages combined).

CONCLUSIONS

Children with achondroplasia continue to be underscreened for foramen magnum stenosis, although screening rates have improved since the release of the 2005 AAP surveillance guidelines. The incidence of surgery was highest in infants and decreased with age.

ABBREVIATIONS AAP = American Academy of Pediatrics; CPT = Current Procedural Terminology.
Article Information

Contributor Notes

Correspondence Cormac O. Maher: University of Michigan, Ann Arbor, MI. cmaher@med.umich.edu.INCLUDE WHEN CITING Published online December 14, 2018; DOI: 10.3171/2018.9.PEDS18410.Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

© AANS, except where prohibited by US copyright law.

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References
  • 1

    American Academy of Pediatrics Committee on Genetics: Health supervision for children with achondroplasia. Pediatrics 95:4434511995

  • 2

    Aryanpur JHurko OFrancomano CWang HCarson B: Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. J Neurosurg 73:3753821990

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 3

    Bagley CAPindrik JABookland MJCamara-Quintana JQCarson BS: Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 104 (3 Suppl):1661722006

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 4

    Brühl KStoeter PWietek BSchwarz MHumpl TSchumacher R: Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr 160:10202001

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 5

    Cohen MERosenthal ADMatson DD: Neurological abnormalities in achondroplastic children. J Pediatr 71:3673761967

  • 6

    Dennis JPRosenberg HSAlvord EC Jr: Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. Brain 84:4274451961

  • 7

    Ednick MTinkle BTPhromchairak JEgelhoff JAmin RSimakajornboon N: Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr 155:5105152009

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 8

    Epstein JAMalis LI: Compression of spinal cord and cauda equina in achondroplastic dwarfs. Neurology 5:8758811955

  • 9

    Galanski MHerrmann RKnoche U: Neurological complications and myelographic features of achondroplasia. Neuroradiology 17:59631978

  • 10

    Hecht JTBodensteiner JBButler IJ: Neurologic manifestations of achondroplasia. Handb Clin Neurol 119:5515632014

  • 11

    Hecht JTButler IJHorton WA: Foramen magnum decompression for homozygous achondroplasia. J Neurosurg 71:3003011989

  • 12

    Hecht JTButler IJScott CI Jr: Long-term neurological sequelae in achondroplasia. Eur J Pediatr 143:58601984

  • 13

    Jha RMKlimo PSmith ER: Foramen magnum stenosis from overgrowth of the opisthion in a child with achondroplasia. J Neurosurg Pediatr 2:1361382008

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 14

    Keiper GL JrKoch BCrone KR: Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg 31:78831999

  • 15

    Kestle JRW: Editorial. Administrative database research. J Neurosurg 122:4414422015

  • 16

    Moskowitz NCarson BKopits SLevitt RHart G: Foramen magnum decompression in an infant with homozygous achondroplasia. Case report. J Neurosurg 70:1261281989

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 17

    Orioli IMCastilla EEBarbosa-Neto JG: The birth prevalence rates for the skeletal dysplasias. J Med Genet 23:3283321986

  • 18

    Pauli RMHorton VKGlinski LPReiser CA: Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 56:7327441995

    • PubMed
    • Search Google Scholar
    • Export Citation
  • 19

    Pauli RMScott CIWassman ER JrGilbert EFLeavitt LAVer Hoeve J: Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr 104:3423481984

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 20

    Reid CSPyeritz REKopits SEMaria BLWang HMcPherson RW: Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr 110:5225301987

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 21

    Rollins NBooth TShapiro K: The use of gated cine phase contrast and MR venography in achondroplasia. Childs Nerv Syst 16:5695772000

  • 22

    Ruiz-Garcia MTovar-Baudin ADel Castillo-Ruiz VRodriguez HPCollado MAMora TM: Early detection of neurological manifestations in achondroplasia. Childs Nerv Syst 13:2082131997

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 23

    Ryken TCMenezes AH: Cervicomedullary compression in achondroplasia. J Neurosurg 81:43481994

  • 24

    Scott RM: Foramen magnum decompression in infants with homozygous achondroplasia. J Neurosurg 72:5191990

  • 25

    Shimony NBen-Sira LSivan YConstantini SRoth J: Surgical treatment for cervicomedullary compression among infants with achondroplasia. Childs Nerv Syst 31:7437502015

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 26

    Simmons KHashmi SSScheuerle ACanfield MHecht JT: Mortality in babies with achondroplasia: revisited. Birth Defects Res A Clin Mol Teratol 100:2472492014

  • 27

    Trotter TLHall JG: Health supervision for children with achondroplasia. Pediatrics 116:7717832005

  • 28

    Unger SBonafé LGouze E: Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep 15:53602017

  • 29

    Waller DKCorrea AVo TMWang YHobbs CLanglois PH: The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 146A:238523892008

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 30

    White KKParnell SEKifle YBlackledge MBompadre V: Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? Am J Med Genet A 170A:32412016

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 31

    Yamada HNakamura STajima MKageyama N: Neurological manifestations of pediatric achondroplasia. J Neurosurg 54:49571981

  • 32

    Yamada YIto HOtsubo YSekido K: Surgical management of cervicomedullary compression in achondroplasia. Childs Nerv Syst 12:7377411996

  • 33

    Yundt KDPark TSTantuwaya VSKaufman BA: Posterior fossa decompression without duraplasty in infants and young children for treatment of Chiari malformation and achondroplasia. Pediatr Neurosurg 25:2212261996

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
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