NO06 Impact of CNS impairment on quality of life of children with neurofibromatosis type 1 (original) (raw)
Related papers
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
Neurology, 2005
Objective: To assess the frequency and severity of specific cognitive deficits in children with neurofibromatosis type 1 (NF1) in a large unbiased cohort. Methods: Extensive cognitive assessments were performed in 81 children with NF1 ages 8 to 16 years and their performance was compared with that of 49 unaffected sibling controls. Results: Eighty-one percent of the children with NF1 had moderate to severe impairment in one or more areas of cognitive functioning. Although 51% of children with NF1 performed poorly on tasks of reading, spelling, and mathematics, specific learning disabilities (as defined by IQ-achievement discrepancies) were present in only 20% of the children. Sustained attention difficulties were present in 63% of children with NF1, with 38% of children with NF1 fulfilling the diagnostic criteria for attention deficit-hyperactivity disorder. The NF1 neuropsychological profile is characterized by deficits in perceptual skills (visuospatial and visuoperceptual), executive functioning (planning and abstract concept formation), and attention (sustained and switching). Interestingly, both verbal and visual memory was unaffected in NF1 children, and their memory skills were in general stronger than their level of general intellectual function. Although both expressive and receptive language skills were significantly impaired in NF1 children, they appeared to be relatively better preserved than visuospatial abilities once IQ is taken into account. Conclusion: There is an extremely high frequency of cognitive problems in children with neurofibromatosis type 1, making cognitive dysfunction the most common complication to affect quality of life in these children.
Genetics in Medicine
Purpose Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with cognitive deficits. The NF1 cognitive phenotype is generally considered to be highly variable, possibly due to the observed T2-weighted hyperintensities, loss of heterozygosity, NF1-specific genetic modifiers, or allelic imbalance. Methods We investigated cognitive variability and assessed the contribution of genetic factors by performing a retrospective cohort study and a monozygotic twin case series. We included data of 497 children with genetically confirmed NF1 and an IQ assessment, including 12 monozygotic twin and 17 sibling sets. Results Individuals carrying an NF1 chromosomal microdeletion showed significant lower full-scale IQ (FSIQ) scores than individuals carrying intragenic pathogenic NF1 variants. For the intragenic subgroup, the variability in cognitive ability and the correlation of IQ between monozygotic NF1 twin pairs or between NF1 siblings is similar to the general population....
Neurología, 2019
Introduction: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome often associated with specific cognitive deficits that are rarely monitored during follow-up of these patients. Objective: The purpose of our study is twofold. First, we aimed to describe the cognitive profile of patients with NF1 and detect disorders in higher brain functions associated with the disease. Second, we identified the reasons for consultation associated with school performance in these patients. Methods: We conducted a descriptive cross-sectional study of 24 paediatric patients (ages 5-16) with NF1 who underwent neuropsychological assessment. Results: The most frequent reasons for consultation were attention deficits (58.33%), learning disorders (25%), poor motor coordination (25%), and language impairment (0.8%). Although 96% of the patients displayed impairments in at least one of the assessed areas, only 83.34% of the parents had reported such impairments. Attention-deficit/hyperactivity disorder was present in 58.33% of the patients, whereas 33.33% had nonverbal learning disabilities, 20.83% had expressive language disorder, 8.33% had borderline intellectual functioning, 4.16% had mental retardation, and only 4.16% showed no cognitive impairment.
European Journal of Paediatric Neurology, 2018
Background Neurofibromatosis type 1 is a genetic disorder associated with cognitive deficits, learning disabilities and behavioral problems. These domains appear to have a still controversial debated association with local areas of T2-hyperintensities on MRI images, called unidentified bright objects (UBOs). Methods A cohort of 36 children (aged 7-11 years) included consecutively, underwent neuropsychological and behavioral assessment to determine their cognitive and neuropsychological profile, and the frequency of Specific Learning Disabilities. MRI examination was used to determine the impact of UBOs' presence, number, and location on the cognitive, neuropsychological and behavioral profile, and also the presence of optic glioma. Results The mean full intelligence quotient was 104.6; only one child had mild intellectual disability. Forty one percent of children had a diagnosis of Specific Learning Disabilities and reading was mainly involved. Twenty per cent had attention problems. All children had normal scores in visuo-motor and visuo-perceptual tests. UBOs were present in 94.0% of the MRI examinations. Two children had optic glioma. Children with UBOs in a specific location and children with UBOs elsewhere were statistically compared, no one of the location seemed to have an impact on general cognition measured with Full Intelligence Quotient. The thalamus was associated with problems in calculation and striatum with behavioral problems. An inverse relationship between the number of UBOs and the full intelligence quotient was present, but without a statistical significance. Conclusions In this study, the specific location of UBOs did not seem to influence the general cognitive profile and also the relationship between their number and the intelligence quotient was not significant; these results are still controversial in literature. Finally, the presence of UBOs in the thalamus and striatum may represent a neuroradiological pattern that influences performances in calculation and behavior respectively in children with Neurofibromatosis type 1.
NO03 Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings
European Journal of Paediatric Neurology, 2007
Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58) were tested using Wechsler Intelligence Scales for Children-Revised (WISC-R), Judgment of Line Orientation, and Bender Visual-Motor Gestalt tests. Comparison groups were unaffected siblings of NF1 patients (n=20), children with attention deficit and hyperactivity disorder (ADHD, n=40), and normal children (n=40). No difference was found between familial or sporadic NF1 cases. Seventeen/58 (29%) of NF1 cases had a full scale IQ <70. The subgroup of NF1 patients with full scale IQ>80 (n=27) scored lower in WISC-R subtests measuring visual perception when compared to a healthy control group of similar intelligence, and lower in arithmetic but better in Bender-Gestalt and Judgment of Line Orientation tests when compared to an ADHD group of similar intelligence. These results indicate a high prevalence of mental retardation in a clinical NF1 series. NF1 patients who have normal intelligence may have impaired visual perception, but their visual perceptual problems are less than in ADHD. The tendency of unaffected siblings of NF1 patients to have mildly but consistently low test scores compared to healthy controls needs to be studied further for underlying genetic or environmental factors.
Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
Italian journal of pediatrics, 2018
Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of children with NF1 and seizures. The medical records of 437 children (0-18 years old) with NF1 were reviewed. All children with at least one afebrile seizure were included. Demographic, clinical, neurological, NF1 mutation status, and EEG data were collected along with brain magnetic resonance imaging. Depending on etiology, structural seizures have been identified and were further classified as NF1 related or not. Nineteen patients (4.3%; 13 males) were included. NF1 was inherited in 7 (37.5%), with 3 maternal forms. Ten children with structural seizures were identified. Seven forms were identified someway related to NF1, two of which were associated to 17q11.2 microdeletion and hypoxic-ischemic encephalopa...
Developmental Medicine & Child Neurology, 2006
Cognitive deficits are the most common complication in children with neurofibromatosis type 1 (NF1), and academic achievement is broadly affected. There is a lack of consensus in the literature regarding the frequency of general and specific learning disabilities, which seems to be related to the lack of a consensus on diagnostic criteria. The present study examined the frequency of specific learning disabilities (SLDs) in NF1, using an intellect-achievement discrepancy for diagnosis, as well as general learning difficulty associated with a lowering of general intellectual ability. The cohort consisted of 81 children with NF1 (43 males, 38 females; mean age 11y 6mo [SD 2y 4mo]; range 8y-16y 9mo) and 49 comparison children (20 males, 29 females; mean age 12y [SD 2y 6mo]; range 8y 2mo-16y 8mo). Problems with academic achievement were present in 52% of children with NF1; however, only 20% of the children with NF1 were diagnosed with an SLD (32% had more general learning problems). Only males with NF1 were at significant risk for SLD, and Verbal IQ<Performance IQ discrepancies were predictive of the presence of an SLD. There was a significant comorbidity of literacy-based learning disabilities and attention-deficit-hyperactivity disorder. We were able to define three subtypes of children with NF1 having distinct cognitive profiles, each with important implications for assessment and remediation.
Pediatric Patients with Neurofibromatosis Type 1 and its Association with Intellectual Impairment
Zenodo (CERN European Organization for Nuclear Research), 2022
Today Neurofibromatosis type 1 belongs to a genetic disorder in which there is a mutation of a gene that is on chromosome 17 which will cause at some point in the patient's life the development and growth of tumors in the central nervous system or even outside it. Epidemiologically it is known that there is no predilection for sex or person, but it is known and common, that the onset of presentation of symptoms is given after birth, for this reason, it is a disorder that occurs more frequently in children, it is important to recognize the disorder to be able to attend to the complications that occur with the evolution of the disease, remembering that a specific treatment is not known exactly. It is considered necessary the integral attention to the multiple complications that could come present, which mentions some of the most serious are: Musculoskeletal disorders, as well as presenting skin problems, being frequent presentation in the first year of life. Eye problems, learning problems at school age and even worse prognosis can reach a degree of mental retardation.
Cognitive profiles of neurofibromatosis type 1 patients with minor brain malformations
Pediatric neurology, 2012
Neurofibromatosis type 1 is a genetic condition associated with increased risk of abnormal brain development. The relationship between a specific type of brain malformation and a distinct cognitive sign/deficiency remains unknown. This study investigated the frequency of brain malformations in children with neurofibromatosis type 1, and the impact of those brain malformations on cognitive performance. A retrospective examination was performed of cranial magnetic resonance imaging and clinical records in 604 neurofibromatosis type 1 patients. Eighteen patients with brain malformations and intellectual evaluations were available and compared to a subset of neurofibromatosis type 1 patients (n = 20) without brain malformations. The most common brain malformations included hypothalamic hamartomas and Chiari I malformation. More complex migration disorders were also observed. Comparisons of cognitive profiles between groups revealed differences in patients with hamartomas compared with t...