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• W1531086863 abstract "SIR–Neurofibromatosis type 1 is an autosomal dominant genetic disorder associated with a mutation on the long arm of chromosome 17 and has highly variable phenotypic expression. Children and adolescents with neurofibromatosis have a high incidence of neuropsychological and learning difficulties.1 Both verbal and non-verbal cognitive deficits are common in children and adolescents with neurofibromatosis, but visuospatial impairment has long been considered a hallmark feature of the disorder.2 Numerous studies have demonstrated visuospatial deficits in children with neurofibromatosis, but a relationship between these deficits and morphological abnormalities of the brain has rarely been established.3 The most common central nervous system abnormalities in neurofibromatosis are magnetic resonance imaging (MRI) T2-hyperintensities.4,5 These features most commonly occur in the basal ganglia, brainstem, thalamus, cerebellum, and hippocampus; they display no mass effect, do not enhance with contrast, are not associated with focal neurological deficits, and resolve by adulthood.6 Some studies have found a relationship between cognitive dysfunction and the number and location of T2-hyperintensities, particularly in the cerebellum and the thalamus.7–9 The objective of this study was to evaluate the neuropsychological profile, including cognitive level, attention and memory skills, visual-motor integration, and school learning, in order to establish the clinical meaning of T2-hyperintensities in the cerebellum in patients with neurofibromatosis; clinical impairment was therefore established using normal standards. Forty-nine patients were recruited consecutively from the outpatient Genetics Clinic of the Bambino Gesù Children’s Hospital in Rome, Italy. All were diagnosed with neurofibromatosis type I and underwent MRI examination during routine follow-up. Exclusion criteria included central nervous system lesion or other medical conditions affecting test performance (e.g. epilepsy/seizures, brain tumours, hydrocephalus). Patients’ age ranged from 6 to 16 years 11 months (mean 10y 2mo [SD 2y 11mo]). Thirty-nine percent of patients were females (n=19) and 61% were males (n=30), with 75.5% having sporadic neurofibromatosis and 24.4% familial neurofibromatosis. The patients were divided into two groups: 31 patients with T2-hyperintensities in the cerebellum and 18 patients without, irrespective of the presence and number of T2-hyperintensities occurring in other brain areas. All patients satisfied the diagnostic criteria specified by the National Institutes of Health Consensus Development Conference.10 Informed consent was obtained from the parents of all the children before assessment. This study was approved by the Ethics Committee of the Bambino Gesù Children’s Hospital. All patients underwent brain and orbit MRI, and neuropsychological testing on an individual basis over four morning sessions. The MRI examinations were performed with a 1.5 T magnet (Siemens Magnetom Vision Plus, Henkenstrasse, Erlangen, Germany). MRI sequences were sagittal T1, axial T2, axial fluid-attenuated inversion recovery, and three-plane T1-weighted following intravenous administration of gadopentate dimeglumine. MRI examinations were reviewed independently by two neuroradiologists, who reached consensus after discussion. General intellectual functioning was measured using the Wechsler Intelligence Scale for Children, Third Edition (WISC-III).11 Non-verbal cognitive abilities, visualization, reasoning, memory, and attention were assessed using the Leiter-R test.12 The Leiter-R scale was administered to 24 participants from the T2-hyperintensities positive group (T2+) and 13 participants from the T2-hyperintensities negative group (T2−). The Figure Rotation subtest, which is intended for patients aged 11 years or older, was administered to eight patients in each group. To compare patients with normal participants we categorized them as clinically impaired or not on the basis of the reference cut-off for Italian populations. Data were normally distributed except for the Vocabulary subscale, where the non-parametric Mann–Whitney test was applied. The other comparisons between means were performed using Student’s t-test; the results were also analyzed after categorization of patients into clinically affected and unaffected, with chi-square or Fisher’s exact test, as appropriate. Analysis was performed with SPSS software for Windows (version 14.0, SPSS Inc. Chicago, Illinois, USA). A p-value <0.05 was considered statistically significant, but for subtest scores a more conservative level was preferred, that is ≤0.01. Of the 49 patients, 31 (63.2%) had at least one T2-hyperintensity in the cerebellum whereas 18 (36.7%) had no lesion there. There was no significant difference between the two groups as regards age, school year, sex, and socioeconomic status. Thalamic and hippocampal T2-hyperintesities were observed in most cases (85.7% and 89.8% respectively), without any significant difference of IQ between patients with and without cerebellar T2-hyperintensities. Cerebellar T2H+ patients showed Full-scale IQ and Verbal IQ scores which were significantly lower than the cerebellar T2H− patients scores, while no difference was observed in Performance IQ (Table I). No patient had intellectual disability (IQ score <70). Six of the 31 patients (19.3%) with cerebellar T2-hyperintesities showed an impaired Verbal IQ (<1SD below the mean of the reference population) and 5/31 (16.1%) showed impairment in Full-scale IQ (p=0.07 and p=0.14 respectively), while no patient without cerebellar lesion showed difficulties in either IQ score. Cerebellar T2H+ children obtained significantly lower scores than T2H− children on the WISC-III subtest on Information and Vocabulary, and marginally significantly on Picture Completion and Vocabulary (Table I). Picture Completion was impaired in 2/31 (6.5%) of the cerebellar T2H+ patients versus none in the T2H− patients (p=0.5). Impairment in Arithmetic and Vocabulary was observed more frequently in cerebellar T2H+ patients than in T2H− patients (11/31, 35.5% vs 2/18, 11.1%, p=0.09; 4/31, 12.9% vs 1/18, 5.6%, p=0.6 respectively). Participants with T2-hyperintensities in the cerebellum had a Total IQ and Fluid Reasoning IQ which were significantly lower than in the group without T2-hyperintensities in the cerebellum (Table II). Of the cerebellar T2H+ patients, 6.4% (2/31) and 12.9% (4/31) respectively showed a Total IQ and a Fluid Reasoning IQ of <70, versus none in the T2H− patients (p=0.5 and p=0.3). Forty-six percent of children with cerebellar T2-hyperintensities (11/24) had impairment in Fluid Reasoning IQ compared with 16.7% of participants without T2-hyperintensities in the cerebellum (3/13, p=0.3). One-third of cerebellar T2H+ patients (8/24) had impairment in Total IQ compared with 15.4% (2/13) of T2H− participants (p=0.4). Cerebellar T2H+ children performed less well than T2H− patients on the Leiter-R subtest Sequential Order and Figure Rotation (Table II). Clinical impairment in these subscales was more frequent in the children with T2-hyperintensities in cerebellum compared with those without (8 and 7/24, 33.3% and 29.2% vs 4 and 1/13, 30.1% and 7.7%, p=1 and p=0.2 respectively). Regarding Visual Memory, the largest differences were observed in the composite scores for Memory Screener and Memory Process and subtest of short-term associative memory (Associated Pair), visuospatial working memory (Reverse Memory), Visual Coding, and Delay Pair (Table II); 35.5% of patients with cerebellar T2-hyperintensities had clinical impairment on Memory Screener scale versus 22.2% of patients without (p=0.5). Impairment of Reverse Memory in the two groups showed only marginal statistical significance (35.5% of cerebellar T2H+ vs 5.6% of T2H− patients, p=0.07), while Visual Coding impairment was infrequent among T2H+ (9.7%) and absent among T2H− patients (p=0.5). Patients with T2-hyperintensities in the cerebellum show an IQ lower than those without, and possibly impaired visuospatial ability and language take part in this condition. Our results seem to confirm the cognitive functions of cerebellum, whose neurophysiological basis could be its output to the non-motor areas of the brain.13 T2-hyperintensities positive patients show clinical impairment more frequently than negative patients even if the differences do not reach statistical significance. However, our study has limited statistical power and negative results must be taken with caution. Visuospatial difficulties have long been identified as typical features of neurofibromatosis8 although cognitive level is within the normal range. Patients with T2-hyperintensities in the cerebellum had a lower IQ than patients without, but the difference between the two groups according to the WISC-III appears to be due to better performance of the group without T2-hyperintensities in the cerebellum, rather than a particular difficulty of the group with T2-hyperintensities in the cerebellum, particularly in subtests involving language use, when verbal fluency is needed. A study has documented difficulties in verbal fluency in participants with lesions localized in the right cerebellar hemisphere.14 It has been reported that 7- to 13-year-old patients after brain injury and cerebellar lesions also have a lower cognitive performance and difficulties in visual recognition memory.15 In addition, major difficulties appear during tasks related to visual manipulation of images, i.e. in mental rotation of objects, as shown in children operated upon for cerebellar tumors.16 Although the number of children is small, the difference between groups is striking. As previously reported, functional MRI studies have demonstrated major activation of the cerebellum in tasks involving mental rotation of objects.17 Difficulties in visuospatial working memory confirm the role of the cerebellum. No impact on cognitive function has been found by others,9 but prevalence in that series was much lower (14.5%), suggesting a different population, possibly by selection of referred patients. Results from the present study should be considered as preliminary findings, showing that children with T2-hyperintensities in the cerebellum have a different cognitive profile in comparison to children without, particularly in regard to language and visuospatial abilities. Future investigations should focus on the difficulties detected in this subgroup of patients with neurofibromatosis by functional MRI. The study was funded by the Italian Ministry of Health, which did not take any part in study collection, data collection and analysis, manuscript preparation, and/or publication decisions. We would also like to thank Giuseppe Fariello, who reviewed the MRIs together with Daniela Longo." @default.
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• W1531086863 date "2011-11-23" @default.
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• W1531086863 title "Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioning" @default.
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