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Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1

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Abstract

A potential association between brain MRI findings and social/emotional difficulties in children with neurofibromatosis type 1 (NF1) was examined. Twenty-eight children with NF1 filled in the Strengths and Difficulties Questionnaire (SDQ), and possible associations between their responses and findings in their brain MRI were sought. T2 bright foci were identified in MRI scans of 24 patients (85 %). There were no associations between the presence of the bright foci in any specific brain region and any of the SDQ scores for the emotional/behavioral measures. Male patients had significantly abnormal SDQ scores and peer problems. Patients with abnormal SDQ scores were younger than those with normal SDQ scores (mean 13.2 years vs 14.3 years, respectively; p = 0.23). A comparison of the scores obtained in ours and in another group of 11 children with NF1 yielded a significant difference between the groups. Conclusion: We believe that the lack of correlation between the MRI findings and the social/emotional parameters of the SDQ is another demonstration of the marked clinical variability characteristic of NF1.

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Abbreviations

NF1:

Neurofibromatosis type I

MRI:

Magnetic resonance imaging

UBOs:

Unidentified bright objects

SDQ:

Strengths and Difficulties Questionnaire

References

  1. [No authors listed] (1988) National Institute of Health Consensus Development Conference: Neurofibromatosis Conference Statement. Arch Neurol 45:575–578

  2. Alkindy A, Chuzhanova N, Kini U, Cooper DN, Upadhyaya M (2012) Genotype- phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genom 6(12):2–7

  3. Barton B, North K (2007) The self concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev 33:401–408

    Article  CAS  PubMed  Google Scholar 

  4. Chabernaud C, Sirinelli D, Barbier C, Cottier JP, Sembely C, Giraudeau B, Deseille-Turlotte G, Lorette G, Barthez MA, Castelnau P (2009) Thalamo-striatal T2-weighted hyperintensities (unidentified bright objects) correlate with cognitive impairments in neurofibromatosis type 1 during childhood. Dev Neuropsychol 34:736–748

    Article  PubMed  Google Scholar 

  5. Cutting LE, Koth CW, Burnette CP, Abrams MT, Kaufmann WE, Denckla MB (2000) Relationship of cognitive functioning, whole brain volumes and T2 weight hyperintensities in neurofibromatosis 1. J Child Neurol 15:157–160

    Article  CAS  PubMed  Google Scholar 

  6. Denckla MB, Hofman K, Mazzocco MM, Melhem E, Reiss AL, Bryan RN, Harris EL, Lee J, Cox CS, Schuerholz LJ (1996) Relationship between T2-weighted hyperintensities (unidentified bright objects) and lower IQs in children with neurofibromatosis-1. Am J Med Genet 67:98–102

    Article  CAS  PubMed  Google Scholar 

  7. Diggs-Andrews KA, Brown JA, Gianino SM, Rubin JB, Wozniak DF, Gutmann DH (2013) Sex is a major determinant of neuronal dysfunction in neurofibromatosis type 1. Ann Neurol [Epub ahead of print]

  8. Ferner RE, Chaudhuri R, Bingham J, Cox T, Huges RAC (1993) MRI in neurofibromatosis 1. The nature and evolution of increased intensity T2 weighted lesions and their relationship to intellectual impairment. J Neurol Neurosurg Psychiatry 56:492–495

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  9. Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J (2013) Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study. Dev Med Child Neurol 55:139–145

    Article  PubMed  Google Scholar 

  10. Gill DS, Hyman SL, Steinberg A, North KN (2006) Age related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 36:1048–1056

    Article  PubMed  Google Scholar 

  11. Goh WHS, Khong P-l, Leung CS, Wong VCN (2004) T2-weighted hyperintensities (unidentified bright objects) in children with neurofibromatosis 1: their impact on cognitive function. J Child Neurol 19:853–858

    PubMed  Google Scholar 

  12. Hyman SL, Gill DS, Shores EA, Steinberg A, North KN (2007) T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J Neurol Neurosurg Psychiatry 78:1088–1091

    Article  PubMed Central  PubMed  Google Scholar 

  13. Jentarra GM, Rice SG, Olfers S, Rajan C, Saffen DM, Narayanan V (2012) Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1. J Child Neurol 27:695–702

    Article  PubMed  Google Scholar 

  14. Ko JM, Sohn YB, Jeong SY, Kim HJ, Messiaen LM (2013) Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. Pediatr Neurol 48:447–453

    Article  PubMed  Google Scholar 

  15. Lehtonen A, Howie E, Trump D, Huson SM (2013) Behaviour in children with neurofibromatosis type 1: executive function, attention, emotion and social competence. Dev Med Child Neurol 55:111–125

    Article  PubMed  Google Scholar 

  16. Levenson D (2014) Gender plays role in predicting neuronal dysfunction for patients with neurofibromatosis 1: girls more likely to require treatment for visual decline caused by NF1-related brain tumors. Am J Med Genet A 164A(5):VIII–IX

    Google Scholar 

  17. Mansbach-Kleinfeld I, Levine SZ, Apter A, Levine SZ, Ponizovsky AM (2010) A population-based psychometric validation study of the Strengths and Difficulties Questionnaire—Hebrew version. Front Psychiatry 1:151

    Article  PubMed Central  PubMed  Google Scholar 

  18. Moore BD III, Slopis JM, Schomer D, Jackson EF, Levy BM (1996) Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis. Neurology 46:1660–1668

    Article  CAS  PubMed  Google Scholar 

  19. Pasmant E, Vidaud M, Vidaud D, Wolkenstein P (2012) Neurofibromatosis type 1: from genotype to phenotype. J Med Genet 49:483–489

    Article  CAS  PubMed  Google Scholar 

  20. Payne JM, Moharir MD, Webster R, North KN (2010) Brain structure and function in neurofibromatosis type1: current concepts and future directions. J Neurol Neurosurg Psychiatry 81:304–309

    Article  PubMed  Google Scholar 

  21. Pride NA, Korgaonkar MS, Barton B, Payne JM, Vucic S, North KN (2013) The genetic and neuroanatomical basis of social dysfunction: lessons from neurofibromatosis type 1. Hum Brain Mapp [Epub ahead of print]

  22. Van Roy B, Groholt B, Heyerdahl S, Clench-Aas J (2006) Self-reported strengths and difficulties in a large Norwegian population 10–19 years. Eur Child Adolesc Psychiatry 15:189–198

    Article  PubMed  Google Scholar 

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Author contributions

A. Shuper, R. Cohen, and T. Steinberg created the study concept and design, A. Halevi helped with the acquisition of data and drafting the manuscript. A. Shuper approved the final manuscript.

Conflict of interests

The authors declare no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Funding

The authors received no financial support for the research, authorship, and/or publication of this article.

Ethical approval

Institutional Review Board approval and parental consent were obtained for all the patients.

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Authors

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Correspondence to Avinoam Shuper.

Additional information

Communicated by Jaan Toelen

Rony Cohen and Tamar Steinberg contributed equally.

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Cohen, R., Steinberg, T., Kornreich, L. et al. Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1. Eur J Pediatr 174, 199–203 (2015). https://doi.org/10.1007/s00431-014-2366-7

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  • DOI: https://doi.org/10.1007/s00431-014-2366-7

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