Skip to main content

Advertisement

SpringerLink
Log in

Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting

  • Original Article
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Fragile-X-syndrome (FXS) is caused by a mutation on the X chromosome (Xq27.3). Males with a full mutation have typical dysmorphic signs, moderate intellectual disability and psychological disorders. Twenty-five to fifty percent are affected by incontinence. The aim of the study was to assess subtypes of incontinence and psychological problems in children with FXS in their home environments. Twenty-two boys with FXS (mean age 11.0 years) and 22 healthy controls (mean age 11.1 years) were examined with sonography, uroflowmetry, 48-h bladder diary, physical examination, IQ test, parental psychiatric interview and questionnaires regarding incontinence and psychological symptoms in a home setting. Boys with FXS had higher rates of incontinence than controls (59.1 vs. 4.8 %). The most common subtypes in FXS boys were primary non-monosymptomatic nocturnal enuresis, urge incontinence and nonretentive faecal incontinence. 90.9 % boys with FXS had a psychological comorbidity. Incontinence and behavioural symptoms were not associated.

Conclusion: Boys with FXS have a higher risk for physical disabilities, psychological disorders and incontinence than healthy boys. Constipation is not a major problem in FXS. As effective treatment is available for children with ID, we recommend offering assessment and therapy to all children with FXS and incontinence.

What is Known:

• Boys with fragile-X-syndrome (FXS) have higher rates of incontinence, psychological disorders and somatic conditions than typically developing boys.

What is New:

• Constipation is a rare condition in FXS in contrast to other genetic syndromes.

• Although incontinence rates are higher, urological findings (uroflowmetry, sonography) are not more pathological per se in FXS.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

DSM-5:

Fifth edition of the Diagnostic and Statistical Manual of Mental Disorders

DUI:

Daytime urinary incontinence

DV:

Dysfunctional voiding

FI:

Faecal incontinence

FI-C:

Faecal incontinence and constipation

FI-NR:

Nonretentive faecal incontinence

FXS:

Fragile-X-syndrome

ICCS:

International Children’s Continence Society

ID:

Intellectual disability

LUTS:

Lower urinary tract symptoms

NE:

Nocturnal enuresis

OAB:

Overactive bladder

UI:

Urge incontinence

VP:

Voiding postponement

References

  1. Achenbach TM (1991) Manual for the child behavior checklist/4–18 and 1991 profile. University of Vermont, Burlington, VT

    Google Scholar 

  2. American Psychiatric Association (APA) (2013) Diagnostic and statistical manual of mental disorders—fifth edition (DSM 5). APA, Washington, D.C.

    Google Scholar 

  3. Arbeitsgruppe Deutsche Child Behavior Checklist (1999) Deutsche Bearbeitung der Child Behavior Checklist (CBCL/4-18) – Einführung und Anleitung zur Handauswertung. Arbeitsgruppe Kinder-, Jugend- und Familiendiagnostik, Köln

    Google Scholar 

  4. Austin PF, Bauer SB, Bower W, Chase J, Franco I, Hoebeke P, Rittig S, Walle JV, von Gontard A, Wright A, Yang SS, Nevéus T (2015) The standardization of terminology of lower urinary tract function in children and adolescents: update report from the standardization Committee of the International Children’s Continence Society. Neurourol Urodyn. doi:10.1002/nau.22751

    PubMed  Google Scholar 

  5. Backes M, Genç B, Schreck J, Doerfler W, Lehmkuhl G, Von Gontard A (2000) Cognitive and behavioral profile of fragile X boys: correlations to molecular data. Am J Med Genet 95:150–156

    Article  CAS  PubMed  Google Scholar 

  6. Bölte S, Poustka F (2006) FSK - Fragebogen zur Sozialen Kommunikation - Autismus Screening. Verlag Hans Huber, Bern

    Google Scholar 

  7. Brown T (2002) The molecular biology of the fragile X mutation. In: Hagerman RJ, Hagerman PJ (eds) Fragile X syndrome: diagnosis, treatment, and research. Johns Hopkins University Press, Baltimore

    Google Scholar 

  8. Brushini H, Faria N, Garcez E, Srougi M (2003) Development of bladder control in mentally handicapped children. International Braz J Urol 29:455–458

    Google Scholar 

  9. Davis JP, Judd FK, Herrman H (1997) Depression in adults with intellectual disability. Part 1: A review. Aust N Z J Psychiatry 31:232–242

    Article  CAS  PubMed  Google Scholar 

  10. De Gennaro M, Niero M, Capitanucci ML, Von Gontard A, Woodward M, Tubaro A, Abrams P (2010) Validity of the international consultation on incontinence questionnaire-pediatric lower urinary tract symptoms: a screening questionnaire for children. J Urol 184:1662–1667

    Article  PubMed  Google Scholar 

  11. Duker PC, Dekkers M (1992) Development of diurnal bladder control in severely and profoundly mentally handicapped residents. J Intellect Disabil Res 36:177–181

    Article  PubMed  Google Scholar 

  12. Einfeld S, Tonge B (1995) Manual for the developmental behaviour checklist—primary carer version (DBC-P) & teacher version (DBC-T). Monash University Centre for Developmental Psychiatry and Psychology, Clayton, Melbourne

    Google Scholar 

  13. Equit M, Piro-Hussong A, Niemczyk J, Curfs L, Von Gontard A (2013) Elimination disorders in persons with Prader-Willi and fragile-X syndromes. Neurourol Urodyn 32:986–992

    Article  PubMed  Google Scholar 

  14. Equit M, Sambach H, Von Gontard A (2011) Fragile X syndrome and elimination disorders in a 6-year-old girl. Klin Padiatr 223:430–433

    Article  CAS  PubMed  Google Scholar 

  15. Gabis LV, Baruch YK, Jokel A, Raz R (2011) Psychiatric and autistic comorbidity in fragile X syndrome across ages. J Child Neurol 26:940–948

    Article  PubMed  Google Scholar 

  16. Gallagher A, Hallahan B (2012) Fragile X-associated disorders: a clinical overview. J Neurol 259:401–413

    Article  CAS  PubMed  Google Scholar 

  17. Hagerman RJ, Jackson III AW, Levitas A, Rimland B, Braden M (1986) An analysis of autism in fifty males with the fragile X syndrome. Am J Med Genet 23:359–374

    Article  CAS  PubMed  Google Scholar 

  18. Jarvelin MR, Vikevainen-Tervonen L, Moilanen I, Huttunen N (1988) Enuresis in seven-year-old children. Acta Paediatr Scand 77:148–153

    Article  CAS  PubMed  Google Scholar 

  19. Joinson C, Heron J, Emond A, Butler R (2007) Psychological problems in children with bedwetting and combined (day and night) wetting: a UK population-based study. J Pediatr Psychol 32:605–616

    Article  PubMed  Google Scholar 

  20. Joinson C, Heron J, Butler U, Von Gontard A (2006) Psychological differences between children with and without soiling problems. Pediatrics 117:1575–1584

    Article  PubMed  Google Scholar 

  21. Joinson C, Heron J, Von Gontard A (2006) Psychological problems in children with daytime wetting. Pediatrics 118:1985–1993

    Article  PubMed  Google Scholar 

  22. Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E (2014) Fragile X syndrome: a review of associated medical problems. Pediatrics 134:995–1005

    Article  PubMed  Google Scholar 

  23. Koskentausta T, Iivanainen M, Almqvist F (2004) CBCL in the assessment of psychopathology in Finnish children with intellectual disability. Res Dev Disabil 25:341–354

    Article  PubMed  Google Scholar 

  24. Kuczmarski R, Ogden CL, Grummer-Strawn LM (2000) CDC growth charts: United States. National Center for Health Statistics, Hyattsville, MD

    Google Scholar 

  25. Kuhn S, Natale N, Siemer S, Stoeckle M, Von Gontard A (2009) Clinical differences in daytime wetting subtypes: urge incontinence and postponed voiding. J Urol 182:1967–1972

    Article  PubMed  Google Scholar 

  26. Moeschler JB, Shevell M, Schaefer GB, Bull MJ, Enns GM, Gruen JR, Hersh JH, Mendelsohn NJ, Saal HM, Goldberg JD, Hanson JW, Lloyd-Puryear MA, Rasmussen SA, Spire P (2006) Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 117:2304–2316

    Article  PubMed  Google Scholar 

  27. Moore SW (2008) Down syndrome and the enteric nervous system. Pediatr Surg Int 24:873–883

    Article  CAS  PubMed  Google Scholar 

  28. Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL (1988) Natural history of Williams syndrome: physical characteristics. J Pediatr 113:318–326

    Article  CAS  PubMed  Google Scholar 

  29. Nevéus T, von Gontard A, Hoebeke P, Hjälmås K, Bauer S, Bower W, Jørgensen TM, Rittig S, Walle JV, Yeung C, Djurhuus JC (2006) The standardization of terminology of lower urinary tract function in children and adolescents: report from the standardisation committee of the International Children’s Continence Society. J Urol 176:314–324

    Article  PubMed  Google Scholar 

  30. Radstaake M, Didden R, Giesbers S, Korzilius H, Peters-Scheffer N, Lang R, von Gontard A, Curfs LMG (2013) Incontinence in individuals with Angelman syndrome: a comparative study. Res Dev Disabil 34:4184–4193

    Article  PubMed  Google Scholar 

  31. Rasquin A, Di Lorenzo C, Forbes D, Guiraldes E, Hyams JS, Staiano A, Walker LS (2006) Childhood functional gastrointestinal disorders: child/adolescent. Gastroenterology 130:1527–1537

    Article  PubMed  Google Scholar 

  32. Raven J, Raven JC, Court JH (2006) Raven’s progressive matrices und vocabulary scales. Harcourt Test Services, Frankfurt

    Google Scholar 

  33. Raven JC (1998) Standard progressive matrices. Beltz-Test, Göttingen

    Google Scholar 

  34. Schneider S, Margraf J, Unnewehr S (1995) Kinder-DIPS: Diagnostisches Interview bei psychischen Störungen von Kindern und Jugendlichen. Springer, Berlin

    Google Scholar 

  35. Smith L, Smith P, Lee SKY (2000) Behavioural treatment of urinary incontinence and encopresis in children with learning disabilities: transfer of stimulus control. Dev Med Child Neurol 42:276–279

    Article  CAS  PubMed  Google Scholar 

  36. Tranfaglia MR (2011) The psychiatric presentation of fragile X: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome. Dev Neurosci 33:337–348

    Article  CAS  PubMed  Google Scholar 

  37. Turner G, Webb T, Wake S, Robinson H (1996) Prevalence of fragile X syndrome. Am J Med Genet 64:196–197

    Article  CAS  PubMed  Google Scholar 

  38. van Laecke E, Raes A, Vande Walle J, Hoebeke P (2009) Adequate fluid intake, urinary incontinence, and physical and/or intellectual disability. J Urol 182:2079–2084

    Article  PubMed  Google Scholar 

  39. von Gontard A (2013) Urinary incontinence in children with special needs. Nature Reviews Urology 10:667–674

    Article  Google Scholar 

  40. von Gontard A (2012) Enuresis. In: Rey JM (ed) IACAPAP e-textbook of child and adolescent mental health. International Association for Child and Adolescent Psychiatry and Allied Professions, Geneva

    Google Scholar 

  41. von Gontard A (2012) Encopresis. In: Rey JM (ed) IACAPAP e-Textbook of Child and Adolescent Mental Health. International Association for Child and Adolescent Psychiatry and Allied Professions, Geneva

  42. von Wendt L, Simila S, Niskanen P, Jarvelin M (1990) Development of bowel and bladder control in the mentally retarded. Dev Med Child Neurol 32:515–518

    Article  Google Scholar 

  43. Yang PY, Meng NH, Chou ECL (2010) Voiding dysfunctions in children with mental retardation. Neurourol Urodyn 29:1272–1275

    Article  PubMed  Google Scholar 

  44. Yeung CK, Sreedhar B, Leung VT, Metreweli C (2004) Ultrasound bladder measurements in patients with primary nocturnal enuresis: a urodynamic and treatment outcome correlation. J Urol 171:2589–2594

    Article  CAS  PubMed  Google Scholar 

  45. Yeung C, Sreedhar B, Leung Y-V, Sit K-F (2007) Correlation between ultrasonographic bladder measurements and urodynamic findings in children with recurrent urinary tract infection. BJU Int 99:651–655

    Article  PubMed  Google Scholar 

  46. Zink S, Freitag CM, von Gontard A (2008) Behavioral comorbidity differs in subtypes of enuresis and urinary incontinence. J Urol 179:295–298

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We would like to thank the German support group ‘Interessengemeinschaft Fragiles-X e. V.’ and their chairman Dr. Jörg Richstein for giving us the opportunity to cooperate and conduct this study with the help of the members of the support group.

Authors’ individual contribution to the paper

Niemczyk, Justine: Protocol and project development, data management and data analysis, manuscript writing and editing

von Gontard, Alexander: Protocol and project development, data management, manuscript writing and editing

Equit, Monika: Protocol and project development, data analysis, manuscript editing

Bauer, Katharina: Data collection and management

Naumann, Teresa: Data collection and management

Wagner, Catharina: Protocol and project development, data management

Curfs, Leopold: Protocol and project development, manuscript editing

Author information

Authors and Affiliations

  1. Department of Child and Adolescent Psychiatry, Saarland University Hospital, 66421, Homburg, Germany

    Justine Niemczyk, Alexander von Gontard, Monika Equit, Katharina Bauer, Teresa Naumann & C. Wagner

  2. Department of Clinical Genetics, Governor Kremers Centre, Maastricht University Medical Centre, Maastricht, The Netherlands

    Leopold Curfs

Authors
  1. Justine Niemczyk
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Alexander von Gontard
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Monika Equit
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Katharina Bauer
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Teresa Naumann
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. C. Wagner
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Leopold Curfs
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Justine Niemczyk.

Ethics declarations

Funding

The Department of Child and Adolescent Psychiatry, Saarland University Hospital, received financial support from Novartis AG to conduct this study.

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical approval

All procedures performed in the present study have been approved by the local ethics committee and were in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

Additional information

Communicated by Jaan Toelen

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Niemczyk, J., von Gontard, A., Equit, M. et al. Detailed assessment of incontinence in boys with fragile-X-syndrome in a home setting. Eur J Pediatr 175, 1325–1334 (2016). https://doi.org/10.1007/s00431-016-2767-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00431-016-2767-x

Keywords

Search

Navigation