Skip to main content
Top
Published in: European Journal of Pediatrics 2/2015

01-02-2015 | Original Article

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

Authors: Rony Cohen, Tamar Steinberg, Liora Kornreich, Sharon Aharoni, Ayelet Halevy, Avinoam Shuper

Published in: European Journal of Pediatrics | Issue 2/2015

Login to get access

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.
Literature
1.
go back to reference [No authors listed] (1988) National Institute of Health Consensus Development Conference: Neurofibromatosis Conference Statement. Arch Neurol 45:575–578 [No authors listed] (1988) National Institute of Health Consensus Development Conference: Neurofibromatosis Conference Statement. Arch Neurol 45:575–578
2.
go back to reference 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 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.
go back to reference Barton B, North K (2007) The self concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev 33:401–408PubMedCrossRef Barton B, North K (2007) The self concept of children and adolescents with neurofibromatosis type 1. Child Care Health Dev 33:401–408PubMedCrossRef
4.
go back to reference 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 34:736–748PubMedCrossRef 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 34:736–748PubMedCrossRef
5.
go back to reference 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 15:157–160PubMedCrossRef 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 15:157–160PubMedCrossRef
6.
go back to reference 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 67:98–102PubMedCrossRef 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 67:98–102PubMedCrossRef
7.
go back to reference 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] 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.
go back to reference 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 56:492–495PubMedCentralPubMedCrossRef 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 56:492–495PubMedCentralPubMedCrossRef
9.
go back to reference 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 55:139–145PubMedCrossRef 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 55:139–145PubMedCrossRef
10.
go back to reference Gill DS, Hyman SL, Steinberg A, North KN (2006) Age related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 36:1048–1056PubMedCrossRef Gill DS, Hyman SL, Steinberg A, North KN (2006) Age related findings on MRI in neurofibromatosis type 1. Pediatr Radiol 36:1048–1056PubMedCrossRef
11.
go back to reference 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 19:853–858PubMed 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 19:853–858PubMed
12.
go back to reference 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 78:1088–1091PubMedCentralPubMedCrossRef 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 78:1088–1091PubMedCentralPubMedCrossRef
13.
go back to reference 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 27:695–702PubMedCrossRef 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 27:695–702PubMedCrossRef
14.
go back to reference 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 48:447–453PubMedCrossRef 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 48:447–453PubMedCrossRef
15.
go back to reference 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 55:111–125PubMedCrossRef 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 55:111–125PubMedCrossRef
16.
go back to reference 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 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
17.
go back to reference 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 1:151PubMedCentralPubMedCrossRef 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 1:151PubMedCentralPubMedCrossRef
18.
go back to reference 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 46:1660–1668PubMedCrossRef 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 46:1660–1668PubMedCrossRef
19.
go back to reference Pasmant E, Vidaud M, Vidaud D, Wolkenstein P (2012) Neurofibromatosis type 1: from genotype to phenotype. J Med Genet 49:483–489PubMedCrossRef Pasmant E, Vidaud M, Vidaud D, Wolkenstein P (2012) Neurofibromatosis type 1: from genotype to phenotype. J Med Genet 49:483–489PubMedCrossRef
20.
go back to reference 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 81:304–309PubMedCrossRef 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 81:304–309PubMedCrossRef
21.
go back to reference 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] 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.
go back to reference 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 15:189–198PubMedCrossRef 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 15:189–198PubMedCrossRef
Metadata
Title
Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1
Authors
Rony Cohen
Tamar Steinberg
Liora Kornreich
Sharon Aharoni
Ayelet Halevy
Avinoam Shuper
Publication date
01-02-2015
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Pediatrics / Issue 2/2015
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-014-2366-7

Other articles of this Issue 2/2015

European Journal of Pediatrics 2/2015 Go to the issue