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Neurological Sciences

, Volume 36, Issue 9, pp 1617–1624 | Cite as

Patient-reported Chiari malformation type I symptoms and diagnostic experiences: a report from the national Conquer Chiari Patient Registry database

  • Rebecca FischbeinEmail author
  • Julia R. Saling
  • Paige Marty
  • Denise Kropp
  • James Meeker
  • Jenna Amerine
  • Michelle Renee Chyatte
Original Article

Abstract

Chiari malformation (CM) is a condition in which cerebellar tonsillar ectopia may manifest with various clinical presentations. This study reports from the only national, online patient registry available, the symptoms, comorbid neurocognitive and psychological conditions, and diagnostic experiences of patients living with CM type I (CM I). The current research is one component of a large investigation designed to collect information from individuals with CM through the online Conquer Chiari Patient Registry questionnaire. Analyses included descriptive statistics to study body system impact and patient diagnostic experiences. Participants were 768 individuals with CM I and were predominantly female (86.8 %) and Caucasian (93.8 %) with an average age of 35 years. Pain was the most frequently reported symptom (76.69 %) experienced prior to diagnosis with headaches implicated most often (73.44 %). Neurocognitive comorbidities included memory difficulties (43.88 %) and aphasia (43.75 %) and psychological disorders such as depression (31.77 %) and anxiety disorders (19.92 %) were reported. Average time to diagnosis from first physician visit to diagnosis was 3.43 years, and only 8.46 % of patients had previous awareness of CM. CM I diagnosis was found incidentally for 24.87 % of participants. Common misdiagnoses were classified as psychological (19.26 %) and neurological (19.26 %). Fear was the most frequent emotion elicited at the time of correct diagnosis (42.19 %). CM I can be a challenging condition for patients and physicians, during both the search for diagnosis and management of symptoms. Patient and physician education about CM I may permit early intervention and the prevention of further deterioration and patient suffering.

Keywords

Chiari malformation Symptomatology Diagnostic experience Registry 

Notes

Acknowledgments

We wish to thank the patients and caregivers of patients with CM who provided information on the registry. We also wish to thank the Conquer Chiari Foundation and especially Rick Labuda who designed the patient registry and recruited patient participants. Without his efforts, this research would not be possible.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical standard

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.

Informed consent

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

References

  1. 1.
    National Institute of Neurological Disorders and Stoke. Chiari malformation fact sheet. http://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm. Accessed 1 June 2014
  2. 2.
    Heiss J (2013) Epidemiology of the Chiari I malformation. In: Tubbs RS, Oakes WJ (eds) The Chiari malformations. Springer Science + Business Media, New York, pp 83–92CrossRefGoogle Scholar
  3. 3.
    Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M et al (2014) Chiari type i malformation with or without syringomyelia: prevalence and genetics. J Genet Couns 12(4):297–311CrossRefGoogle Scholar
  4. 4.
    Dyste GN, Menezes AH, VanGilder JC (1989) Symptomatic Chiari malformations. An analysis of presentation, management, and long-term outcome. J Neurosurg 71(2):159–168CrossRefPubMedGoogle Scholar
  5. 5.
    Milhorat TH, Chou MW, Trinidad EM, Kula RW, Mandell M, Wolpert C et al (1999) Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 44(5):1005–1017CrossRefPubMedGoogle Scholar
  6. 6.
    Aitken LA, Lindan CE, Sidney S, Gupta N, Barkovich AJ, Sorel M et al (2009) Chiari type I malformation in a pediatric population. Pediatr Neurol 40(6):449–454PubMedCentralCrossRefPubMedGoogle Scholar
  7. 7.
    Fernandez AA, Guerrero AI, Martinez MI, Vazquez ME, Fernandez JB, Octavio CI et al (2009) Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment). BMC Musculoskelet Disord 10(Suppl 1):S1–S11CrossRefPubMedGoogle Scholar
  8. 8.
    Wu YW, Chin CT, Chan KM, Barkovich AJ, Ferriero DM (1999) Pediatric Chiari I malformations: do clinical and radiologic features correlate? Neurology 53(6):1271–1276CrossRefPubMedGoogle Scholar
  9. 9.
    Genitori L, Peretta P, Nurisso C, Macinante L, Mussa F (2000) Chiari type I anomalies in children and adolescents: minimally invasive management in a series of 53 cases. Childs Nerv Syst 16(10–11):707–718CrossRefPubMedGoogle Scholar
  10. 10.
    Meadows J, Kraut M, Guarnieri M, Haroun RI, Carson BS (2000) Asymptomatic Chiari type I malformations identified on magnetic resonance imaging. J Neurosurg 92(6):920–926CrossRefPubMedGoogle Scholar
  11. 11.
    Elster AD, Chen MY (1992) Chiari I malformations: clinical and radiologic reappraisal. Radiology 183(2):347–353CrossRefPubMedGoogle Scholar
  12. 12.
    Ellenbogen R, Bauer D (2013) Association between fibromyalgia, chronic fatigue, and the Chiari I malformation. In: Tubbs RS, Oakes WJ (eds) The Chiari malformations. Springer Science + Business Media, New York, pp 265–271CrossRefGoogle Scholar
  13. 13.
    Mueller DM, Oro JJ (2004) Prospective analysis of presenting symptoms among 265 patients with radiographic evidence of Chiari malformation type I with or without syringomyelia. J Am Acad Nurse Pract 6(3):134–138CrossRefGoogle Scholar
  14. 14.
    Mueller DM, Oro JJ (2005) Chiari I malformation with or without syringomyelia and pregnancy: case studies and review of the literature. J Am Perinatol 22(2):67–70CrossRefGoogle Scholar
  15. 15.
    Wan MJ, Nomura H, Tator CH (2008) Conversion to symptomatic Chiari I malformation after minor head or neck trauma. Neurosurgery 63:748–753CrossRefPubMedGoogle Scholar
  16. 16.
    Schijman E (2004) History, anatomic forms, and pathogenesis of Chiari I malformations. Childs Nerv Syst 20(5):323–328CrossRefPubMedGoogle Scholar
  17. 17.
    Zhang ZQ, Chen YQ, Chen YA, Wu X, Wang YB, Li XG (2007) Chiari I malformation associated with syringomyelia: a retrospective study of 316 surgically treated patients. Spinal Cord 46(5):358–363CrossRefPubMedGoogle Scholar
  18. 18.
    Martin LR, Williams SL, Haskard KB, Dimatteo MR (2005) The challenge of patient adherence. Ther Clin Risk Manag 1(3):189–199PubMedCentralPubMedGoogle Scholar
  19. 19.
    Ryan RE Jr, Pearlman SH (2004) Common headache misdiagnoses. Prim Care Clin Office Pract 31(2):395–405CrossRefGoogle Scholar
  20. 20.
    Jordan JE, Ramirez GF, Bradley WG, Chen DY, Lightfoote JB, Song A (2000) Economic and outcomes assessment of magnetic resonance imaging in the evaluation of headache. J Natl Med Assoc 92(12):573–578PubMedCentralPubMedGoogle Scholar
  21. 21.
    Grazzi L, Andrasik F (2012) Headaches and Arnold-Chiari syndrome: when to suspect and how to investigate. Curr Pain Headache Rep 16(4):350–353CrossRefPubMedGoogle Scholar
  22. 22.
    Mea E, Chiapparini L, Leone M, Franzini A, Messina G, Bussone G (2011) Chronic daily headache in the adults: differential diagnosis between symptomatic Chiari I malformation and spontaneous intracranial hypotension. Neurol Sci 32(Suppl 3):S291–S294CrossRefPubMedGoogle Scholar
  23. 23.
    Brown JP, Lea DE, Douglas MJ (2013) Acquired Chiari I malformation: a differential diagnosis in severe postdural puncture headache? Int J Obstet Anesth 22(1):81–83CrossRefPubMedGoogle Scholar
  24. 24.
    Kole A, Faurisson F (2010) Rare diseases social epidemiology: analysis of inequalities. Adv Exp Med Biol 686:223–250CrossRefPubMedGoogle Scholar
  25. 25.
    Proctor MR, Scott RM, Oakes WJ, Muraszko KM (2011) Chiari malformation. Neurosurg Focus 31(3) Introduction Google Scholar
  26. 26.
    Couchman GR, Forjuoh SN, Rajab MH, Phillips CD, Yu J (2004) Nonclinical factors associated with primary care physicians’ ordering patterns of magnetic resonance imaging/computed tomography for headache. Acad Radiol 11(7):735–740CrossRefPubMedGoogle Scholar
  27. 27.
    Wilson K, Reiser K (2003) Social stratification and the digital divide. Soc Sci Comp Rev 21:133–143CrossRefGoogle Scholar
  28. 28.
    Lewis AR, Kline LB, Sharpe JA (1996) Acquired esotropia due to Arnold-Chiari I malformation. J Neuroophthalmol 16(1):49–54CrossRefPubMedGoogle Scholar
  29. 29.
    Kaplan Y, Oksuz E (2008) Chronic migraine associated with the Chiari type 1 malformation. Clin Neurol Neurosurg 110(8):818–822CrossRefPubMedGoogle Scholar
  30. 30.
    Svensson CK (1989) Representation of American blacks in clinical trials of new drugs. JAMA 261(2):263–265CrossRefPubMedGoogle Scholar
  31. 31.
    Hussain-Gambles M, Atkin K, Leese B (2004) Why ethnic minority groups are under-represented in clinical trials: a review of the literature. Health Soc Care Community 12(5):382–388CrossRefPubMedGoogle Scholar
  32. 32.
    Bach PB, Pham HH, Schrag D, Tate RC, Hargraves JL (2004) Primary care physicians who treat blacks and whites. N Engl J Med 351(6):575–584CrossRefPubMedGoogle Scholar
  33. 33.
    Christophe C, Dan B (1999) Magnetic resonance imaging cranial and cerebral dimensions: is there a relationship with Chiari I malformation? A preliminary report in children. Eur J Paediatr Neurol 3(1):15–23CrossRefPubMedGoogle Scholar
  34. 34.
    Tubbs RS, McGirt MJ, Oakes WJ (2003) Surgical experience in 130 pediatric patients with Chiari I malformations. J Neurosurg 99(2):291–296CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Italia 2015

Authors and Affiliations

  • Rebecca Fischbein
    • 1
    Email author
  • Julia R. Saling
    • 2
  • Paige Marty
    • 2
  • Denise Kropp
    • 2
  • James Meeker
    • 2
  • Jenna Amerine
    • 3
  • Michelle Renee Chyatte
    • 2
  1. 1.Department of Health Policy and Management, College of Public HealthKent State UniversityKentUSA
  2. 2.Northeast Ohio Medical UniversityRootstownUSA
  3. 3.Trumbull County Health DepartmentWarrenUSA

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