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Long-term outcomes in sacral agenesis

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Abstract

Introduction

Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. This study engaged SA sufferers and their caregivers to obtain objective, long-term patient reported outcome data.

Method

Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected.

Results

Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92–63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range −0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range −0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (−0.08 v +0.44, p = 0.022).

Conclusion

This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.

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Availability of data and material

Fully anonymised raw data is available if requested. Please direct requests to the main study correspondent.

References

  1. Williams DI, Nixon HH (1957) Agenesis of the sacrum. Surg Gynecol Obstet 105(1):84–88

    CAS  PubMed  Google Scholar 

  2. Emami-Naeini P, Rahbar Z, Nejat F, Kajbafzadeh A, El Khashab M (2010) Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis. Neurosurgery 67(4):894–900. https://doi.org/10.1227/NEU.0b013e3181eb500d

    Article  PubMed  Google Scholar 

  3. Emami-Naeini P, Nejat F, Rahbar Z, Kajbafzadeh A, El Khashab M (2012) Urological manifestations of sacral agenesis. J Pediatr Urol 8(2):181–186. https://doi.org/10.1016/j.jpurol.2011.02.004

    Article  PubMed  Google Scholar 

  4. Nalbandyan M, Howley MM, Cunniff CM, Romitti PA, Browne ML (2019) National birth defects prevention study. Descriptive and risk factor analysis of nonsyndromic sacral agenesis: National birth defects prevention study, 1997–2011. Am J Med Genet A 179(9):1799–1814. https://doi.org/10.1002/ajmg.a.61290

    Article  PubMed  PubMed Central  Google Scholar 

  5. Zheng Y, Li L, Wang L, Zhang C (2023) The clinical value of prenatal ultrasound in the diagnosis of caudal regression syndrome. Am J Transl Res 15(3):1982–1989

    PubMed  PubMed Central  Google Scholar 

  6. Balioğlu MB, Akman YE, Ucpunar H et al (2016) Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. Childs Nerv Syst 32(9):1693–1702. https://doi.org/10.1007/s00381-016-3022-5

    Article  PubMed  Google Scholar 

  7. Renshaw TS (1978) Sacral agenesis. J Bone Joint Surg Am 60:373–383

    Article  CAS  PubMed  Google Scholar 

  8. Andrish J, Kalamchi A, MacEwen GD (1979) Sacral agenesis: a clinical evaluation of its management, heredity, and associated anomalies. Clin Orthop Relat Res 139:52–57

    Google Scholar 

  9. Guille JT, Benevides R, DeAlba CC, Siriram V, Kumar SJ (2002) Lumbosacral agenesis: a new classification correlating spinal deformity and ambulatory potential. J Bone Joint Surg Am 84(1):32–38. https://doi.org/10.2106/00004623-200201000-00006

    Article  PubMed  Google Scholar 

  10. Cho P, Bauer S, Pennison M, Rosoklija I, Bellows A, Logvinenko T et al (2016) Sacral agenesis and neurogenic bladder: long-term outcomes of bladder and kidney function. J Pediatr Urol 12(3):158.e1-158.e7

    Article  CAS  PubMed  Google Scholar 

  11. Phillips WA, Cooperman DR, Lindquist TC, Sullivan RC, Millar EA (1982) Orthopaedic management of lumbosacral agenesis. Long-term follow-up. J Bone Joint Surg Am 64(9):1282–1294

    Article  CAS  PubMed  Google Scholar 

  12. Gotoh T, Shinno Y, Kobayashi S, Watarai Y, Koyanagi T (1991) Diagnosis and management of sacral agenesis. Eur Urol 20(4):287–292. https://doi.org/10.1159/000471719

    Article  CAS  PubMed  Google Scholar 

  13. Herdman M, Gudex C, Lloyd A, Janssen M, Kind P, Parkin D, Bonsel G, Badia X (2011) Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res 20(10):1727–1736

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Li L, Liu C, Cai X et al (2019) Validity and reliability of the EQ-5D-5 L in family caregivers of leukemia patients. BMC Cancer 19(1):522. Published 2019 May 30. https://doi.org/10.1186/s12885-019-5721-2

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Stolk E, Ludwig K, Rand K, Van Hout B, Ramos-Goni JM (2019) Overview, Update, and Lessons Learned From the International EQ-5D-5L Valuation Work: Version 2 of the EQ-5D-5L Valuation Protocol. Value in Health 22(1):23–30

    Article  PubMed  Google Scholar 

  16. Wille N, Badia X, Bonsel G et al (2010) Development of the EQ-5D-Y: a child-friendly version of the EQ-5D. Qual Life Res 19(6):875–886. https://doi.org/10.1007/s11136-010-9648-y

    Article  PubMed  PubMed Central  Google Scholar 

  17. Lamers LM, McDonnell J, Stalmeier PF, Krabbe PF, Busschbach JJ (2006) The Dutch tariff: results and arguments for an effective design for national EQ-5D valuation studies. Health Econ 15(10):1121–1132

    Article  CAS  PubMed  Google Scholar 

  18. McNamara S, Schneider PP, Love-Koh J, Doran T, Gutacker N (2023) Quality-adjusted life expectancy norms for the English population. Value Health 26(2):163–169. https://doi.org/10.1016/j.jval.2022.07.005

    Article  PubMed  Google Scholar 

  19. Msall ME, DiGaudio K, Rogers BT et al (1994) The Functional Independence Measure for Children (WeeFIM): conceptual basis and pilot use in children with developmental disabilities. Clin Pediatr 33(7):421–430. https://doi.org/10.1177/000992289403300708

    Article  CAS  Google Scholar 

  20. Caird MS, Hall JM, Bloom DA, Park JM, Farley FA (2007) Outcome study of children, adolescents, and adults with sacral agenesis. J Pediatr Orthop 27(6):682–685. https://doi.org/10.1097/01.bpo.0000190841.69412.eb

    Article  PubMed  Google Scholar 

  21. Wilmshurst JM, Kelly R, Borzyskowski M (1999) Presentation and outcome of sacral agenesis: 20 years’ experience. Dev Med Child Neurol 41(12):806–812. https://doi.org/10.1017/s0012162299001619

    Article  CAS  PubMed  Google Scholar 

  22. Daltroy LH, Liang MH, Fossel AH et al (1998) Pediatric Outcomes Instrument Development Group. The POSNA pediatric musculoskeletal functional health questionnaire: report on reliability, validity, and sensitivity to change. J Pediatr Orthop 18(5):561–71. https://doi.org/10.1097/00004694-199809000-00001

    Article  CAS  PubMed  Google Scholar 

  23. World Bank. "World Bank Country and Lending Groups". The World Bank Group, 2024, https://datahelpdesk.worldbank.org/knowledgebase/articles/906519-world-bank-country-and-lending-groups. Accessed 11 Jan 2024

  24. Bhutani J, Rengen V, Pansari V, Kannan D (2023) Sacral agenesis: late presentation and the psychological impact of delayed diagnosis. Cureus 15(10):e47456. https://doi.org/10.7759/cureus.47456

    Article  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Royal Orthopaedic Hospital, Birmingham, West Midlands, UK

    Calum Thomson, Amun Mahmood, Sung Min Yun, Laura Hartley, Rajesh Botchu, Khalid Mohmoud, Mathew Sewell & Jwalant Mehta

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  1. Calum Thomson
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  2. Amun Mahmood
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  3. Sung Min Yun
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  4. Laura Hartley
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  5. Rajesh Botchu
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  7. Mathew Sewell
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  8. Jwalant Mehta
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Contributions

CT, SY and AM contacted patients by phone to obtain questionnaire data. CT and LH examined medical records. CT, SY, KM and AM completed the initial manuscript and final drafting. MS and JM assisted in manuscript preparation and final drafting. RB identified the case series following an in-depth examination of departmental radiology records.

Corresponding author

Correspondence to Calum Thomson.

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Data obtained as part of an institutional service evaluation project at the Royal Orthopaedic Hospital, Birmingham. Clinical audit approval number 21-052.

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Not applicable.

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The authors declare no competing interests.

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Thomson, C., Mahmood, A., Yun, S.M. et al. Long-term outcomes in sacral agenesis. Childs Nerv Syst 40, 1791–1797 (2024). https://doi.org/10.1007/s00381-024-06326-7

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