Thalamo-Striatal T2-Weighted Hyperintensities (Unidentified Bright Objects) Correlate With Cognitive Impairments in Neurofibromatosis Type 1 During Childhood

Chabernaud, Camille; Sirinelli, D.; Barbier, Charlotte; Cottier, Jean-Philippe; Sembely, Catherine; Giraudeau, Bruno; Deseille-Turlotte, Geraldine; Lorette, G; Barthez, Marie-Anne; Castelnau, Pierre

doi:10.1080/87565640903265137

Cited by 36 publications

(39 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…We recommend the evaluation by brain MRI in children with NF1 during early childhood, after the second year, before the eighth year, or at the time of establishing the definitive clinical diagnosis if it is established after the previously mentioned age. Brain MRI can confirm the presence of T2-hyperintensities that, apart from their diagnostic value, can contribute to NF1 cognitive impairments through thalamo-cortical dysfunction (18). The recent studies have suggested that T2-hyperintesities may represent pathological foci of hyperplastic or dysplastic glial proliferation with vacuolar or spongiotic changes, with fluid-filled, coalescted, or conflated vacuoles (19).…”

Section: Discussionmentioning

confidence: 99%

Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study

Sabol

Rešić

Juraški³

et al. 2011

Croat Med J

View full text Add to dashboard Cite

AimTo determine the prevalence, number, and location of multiple (≥2) T2-hyperintensities on brain magnetic resonance imaging (MRI) in children with neurofibromatosis type 1 (NF1) and their correlation with age, and to establish their sensitivity, specificity, and accuracy for the diagnosis of NF1 in children, especially in the early age (2-7 years).MethodsWe performed a cross-sectional study of 162 patients with NF1 from Croatian Neurofibromatosis Association Database and 163 control children between the ages of 2 and 18 years who underwent brain MRI between 1989 and 2009.ResultsMultiple T2-hyperintensities were present in 74% of NF1 patients and 1.8% of controls. They were mainly located in the basal ganglia, brainstem, and cerebellum and were significantly decreased in prevalence and number in the older age. T2-hyperintensities had excellent diagnostic accuracy with the area under the receiver operating characteristic (ROC) curve of 0.849 and 95% confidence interval (CI) of 0.805-0.886. The diagnostic sensitivity, specificity, and accuracy rate of T2-hyperintensities for NF1 were highest in the youngest age (2-7 years): 81% (95% CI 71%-89.1%), 99% (95% CI 92.3%-100%), and 85.8 (95% CI 83.3-93.8), respectively.ConclusionThis study strongly suggests the inclusion of T2-hyperintensities on brain MRI on the list of diagnostic criteria for NF1, especially in children of early age, when the clinical penetration of the NF1 gene has not yet been completely finished.

show abstract

Section: Discussionmentioning

confidence: 99%

Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study

Sabol

Rešić

Juraški³

et al. 2011

Croat Med J

View full text Add to dashboard Cite

show abstract

“…Numerous studies have attempted to examine the relationship between the presence of T2-hyperintensities (T2Hs), a common neuroimaging finding in NF1, and neurocognitive deficits in children with NF1. While the presence and total number of T2Hs has been inconsistently associated with reductions in cognitive functioning in NF1 study populations, [13][14][15][16] several studies have demonstrated a strong relationship between the presence of discrete thalamic T2Hs and reduced cognition. [15][16][17] Other reported deficits associated with T2Hs, specifically in the cerebellum and globus pallidus, have not been reliably replicated.…”

mentioning

confidence: 99%

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging

Eby

Griffith

Gutmann

et al. 2019

Develop Med Child Neuro

View full text Add to dashboard Cite

Aim To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non‐neoplastic T2‐weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI). Method In this cross‐sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo–17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. Results Adaptive Behavior Assessment System scores were continuously distributed and pathologically shifted by 0.79 to 1.26SD across Conceptual, Social, and Practical domains, and 46.5% of individuals had a composite score in the borderline or impaired range. Impairment in adaptive functioning was correlated with deficits in executive function (r=–9.543, p<0.001), externalizing problems (r=−0.366, p<0.001), and attention (r=−9.467, p=0.001). Cluster analysis revealed three distinct phenotypic subgroups, one of which exhibited normal cognitive ability, but impaired adaptive functioning, with persistent deficits in executive function, behavioral problems, and attention‐deficit/hyperactivity disorder symptomatology. There was no relationship between ABAS scores and the number or location of unidentified bright objects. Interpretation Adaptive functioning deficits are common among children with NF1 and are associated with impairment in other cognitive/behavioral domains, independent of general cognitive ability. What this paper adds Deficits in adaptive behavior are common in children with neurofibromatosis type 1 (NF1). Poor adaptive functioning is associated with impairments in executive function, externalizing behaviors, and attention, regardless of cognitive ability. The presence or location of unidentified bright objects do not predict adaptive behavior skills in children with NF1.

show abstract

“…Entretanto, alguns estudos mostram uma possível associação entre a presença dos UBOs e a disfunção cognitiva (2)(3)(4)6,(11)(12)(13) . Isso poderia acontecer especialmente na presença de envolvimento do tálamo (14)(15)(16) e, talvez, se constituísse em um bom preditor de disfunção cognitiva na idade adulta (5,17) . Outros trabalhos têm também associado os UBOs a alterações no desempenho da motricidade fina (12) .…”

Section: Discussionunclassified

Múltiplas hiperintensidades no sistema nervoso central em uma criança com neurofibromatose do tipo 1

Graziadio

Lorenzen²,

Moraes³

et al. 2011

Rev. paul. pediatr.

View full text Add to dashboard Cite

OBJETIVO: Relatar o caso de uma criança com neurofibromatose do tipo 1, apresentando o achado ocasional de múltiplas hiperintensidades e de lesão hamartomatosa pré-quiasmática no sistema nervoso central. DESCRIÇÃO DO CASO: Menino de tez escura de quatro anos, cujo pai apresentava manchas café-com-leite e história de cirurgia de tumor de ouvido. A criança evoluiu com um adequado desenvolvimento neuropsicomotor, sem crises convulsivas ou déficit de aprendizagem. Ao exame físico, possuía múltiplas manchas café-com-leite e efélides. A avaliação pela ressonância nuclear magnética de encéfalo evidenciou múltiplas imagens nodulares hiperintensas em T2 e Flair, com isossinal em T1, localizadas na substância branca dos hemisférios cerebrais, cerebelo e tronco cerebral. Apresentava ainda lesão hamartomatosa pré-quiasmática. A avaliação eletroencefalográfica e o exame neurológico eram normais. COMENTÁRIOS: As imagens hiperintensas verificadas na ressonância nuclear magnética correspondem aos chamados unidentified bright objects (UBOs), observados em de 60 a 70% das crianças com neurofibromatose do tipo 1, sendo raros em adultos. Sua etiologia e significado clínico ainda não são claros. Alguns estudos os têm associado à disfunção cognitiva, déficit neurológico e risco de malignização. Hamartomas localizados próximos ao quiasma óptico são incomuns, mas podem se relacionar à puberdade precoce. A avaliação do sistema nervoso central de crianças assintomáticas com neurofibromatose do tipo 1 é discutível. Contudo, nos casos em que UBOs sejam identificados, é importante considerar seu seguimento radiológico, especialmente diante de lesões múltiplas ou atípicas.

show abstract

Thalamo-Striatal T2-Weighted Hyperintensities (Unidentified Bright Objects) Correlate With Cognitive Impairments in Neurofibromatosis Type 1 During Childhood

Cited by 36 publications

References 35 publications

Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study

Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging

Múltiplas hiperintensidades no sistema nervoso central em uma criança com neurofibromatose do tipo 1

Contact Info

Product

Resources

About