ABSTRACT
Introducción: La neurofibromatosis tipo 1 (NF1) es un síndrome neurocutáneo frecuente que en muchos casos se asocia a dificultades cognitivas específicas que habitualmente no son tenidas en cuenta en el seguimiento médico de estos pacientes. Objetivo: Trazar el perfil cognitivo de pacientes con NF1 detectando trastornos en funciones superiores asociados al mismo. Identificar motivos de consulta de pacientes pediátricos con NF1 en relación con su desempeño escolar. Métodos: Trabajo descriptivo transversal. Se evaluó neuropsicológicamente a 24 pacientes con NF1 con edades comprendidas entre los 5 y los 16 años de edad. Resultados: Los motivos de consulta más frecuentes fueron: problemas atencionales (58,33%), aprendizaje (25%), coordinación motora (25%) y lenguaje (0,8%). Si bien el estudio reveló que el 96% de los pacientes tenía compromiso en al menos una de las áreas evaluadas, solo el 83,34% de los padres las refirieron. El 58,33% presentó trastorno por déficit de atención con hiperactividad (TDAH), el 33,33% trastorno de aprendizaje no verbal (TANV), el 20,83% dificultades en aspectos expresivos del lenguaje, el 8,33% coeficiente intelectual (CI) limítrofe, el 4,16% retraso mental y el 4,16% no mostró dificultades. Conclusiones: Existe alta frecuencia de trastornos en funciones superiores en niños con NF1. Aunque muchos padres detectan dichos trastornos, se ha observado que otros son subestimados. Consideramos conveniente que todos los niños con NF1 cuenten con una evaluación neuropsicológica a fin de poder detectar dificultades existentes en cada caso y así poder elaborar una estrategia de rehabilitación cognitiva precoz y efectiva
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 two-fold. 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 to 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. Conclusion: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment
Subject(s)
Humans , Male , Female , Child , Attention Deficit Disorder with Hyperactivity/diagnosis , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , Language Disorders/diagnosis , Learning Disabilities/diagnosis , Neurofibromatosis 1/psychology , Attention Deficit Disorder with Hyperactivity/epidemiology , Cross-Sectional Studies , Intellectual Disability/diagnosis , Intellectual Disability/epidemiology , Language Disorders/epidemiology , Learning Disabilities/epidemiology , Neuropsychological Tests/statistics & numerical dataABSTRACT
INTRODUCTION: Epilepsy in pediatric age are frequently associated with cognitive disorders. Different studies correlated the presence of transient cognitive disorders with the presence of interictal epileptiform discharges (IEDs). CASE REPORT: A 23-year-old woman with pharmacoresistant focal epilepsy was evaluated with invasive videoEEG in the context of epilepsy surgery. There were selected 300 periods of 10 seconds duration from the invasive videoEEG, which were classified into two groups. Group 1 showed IEDs restricted to the cortex of the middle frontal gyrus, inferior temporal gyrus, left lateral and medial occipitotemporal gyrus (dominant hemisphere). In group 2, IEDs was observed in the upper and middle frontal gyrus, precentral, the inferior and middle temporal left gyrus. The patient read the same text during the selected peirods. The number of words read in each period was counted. The working memory was evaluated by the inverse digit test. In group 1, the average number of words read was 10.2 (95% CI: 10.04-10.35); in group 2 it was 2.3 (95% CI: 2.12-2.27; t(146) = 94.55; p < 0.0001). In group 1, the average of inverse digits was 4.05 (95% CI: 3.81-4.30); in group 2 it was 2.67 (95% CI: 2.48-2.86; t(33) = 10.34; p < 0.0001). CONCLUSIONS: Our finding allows us to infer that the interference of IEDs in the cortex of the upper and middle frontal gyrus, precentral, middle and lower temporal gyrus of the dominant hemisphere, causes a dysfunction of neural networks involved in reading.
TITLE: Trastornos transitorios de la lectura asociados a descargas paroxisticas epileptiformes interictales en videocorticografia invasiva.Introduccion. La epilepsia en la edad pediatrica se asocia frecuentemente a trastornos cognitivos. Distintos estudios correlacionaron la presencia de trastornos cognitivos transitorios con la presencia de descargas epilepticas interictales (DEI). Caso clinico. Mujer de 23 años, con epilepsia focal farmacorresistente evaluada con videoelectroencefalograma (video-EEG) invasivo en el contexto de cirugia de la epilepsia. Del video-EEG invasivo se seleccionaron 300 epocas de 10 s de duracion, que se clasificaron en dos grupos. El grupo 1 evidencio DEI restringidas a la corteza del giro frontal medio, el giro temporal inferior y los giros occipitotemporales lateral y medial izquierdos (hemisferio dominante). En el grupo 2 se observaron DEI en el giro frontal superior y medio, el giro precentral y los giros temporales medio e inferior izquierdos. La paciente leyo el mismo texto durante las epocas seleccionadas. Se contabilizo el numero de palabras leidas en cada epoca. Se evaluo la memoria de trabajo mediante la prueba de digitos inversos. En el grupo 1, la media de palabras leidas fue de 10,2 (IC 95%: 10,04-10,35); en el grupo 2, de 2,3 (IC 95%: 2,12-2,27; t(146) = 94,55; p < 0,0001). En el grupo 1, la media de digitos inversos fue de 4,05 (IC 95%: 3,81-4,30); en el grupo 2, de 2,67 (IC 95%: 2,48-2,86; t(33) = 10,34; p < 0,0001). Conclusion. El hallazgo permite inferir que la interferencia de las DEI en la corteza del giro frontal superior y medio, el giro precentral, y los giros temporales medio e inferior del hemisferio dominante provoca una disfuncion de las redes neuronales implicadas en los mecanismos de la lectura.
Subject(s)
Dyslexia/physiopathology , Electrocorticography , Epilepsies, Partial/physiopathology , Electrocorticography/methods , Female , Frontal Lobe/physiopathology , Humans , Temporal Lobe/physiopathology , Time Factors , Video Recording , Young AdultABSTRACT
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 two-fold. 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 to 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. CONCLUSION: Higher brain functions are frequently impaired in paediatric patients with NF1. Although many parents report such disorders, they can go undetected in some cases. Neuropsychological assessment is recommended for all paediatric patients with NF1 to detect cognitive impairment and provide early, effective rehabilitation treatment.
Subject(s)
Attention Deficit Disorder with Hyperactivity/diagnosis , Cognition Disorders/diagnosis , Cognition Disorders/epidemiology , Language Disorders/diagnosis , Learning Disabilities/diagnosis , Neurofibromatosis 1/psychology , Attention Deficit Disorder with Hyperactivity/epidemiology , Child , Cross-Sectional Studies , Female , Humans , Intellectual Disability/diagnosis , Intellectual Disability/epidemiology , Language Disorders/epidemiology , Learning Disabilities/epidemiology , Male , Neuropsychological Tests/statistics & numerical dataABSTRACT
BACKGROUND: Early detection of neurodegenerative diseases is essential for treatment and proper care of these patients. Screening tools available today are effective for several types of dementia. However, there is no one specific for Lewy Body Dementia (LBD). OBJECTIVES: The aim of this paper is to present a tool for early detection of LBD, accessible even for non-medical staff. METHODS: We stratified subjects (MMSE>20) into four groups: health controls (HC), Mild Cognitive Impairment (MCI), LBD and other dementias (Alzheimer and vascular). All subjects (age range 50-90) were examined with a comprehensive neuropsychological and neuropsychiatric evaluation, as well as neuroimaging to differentiate diagnosis between groups, fulfilling corresponding criteria. Both neurologists and neuropsychologists were blind to the performance on clinical evaluations and ASI, respectively. The sensitivity and specificity of the instrument were determined to differentiate LBD from other groups. RESULTS: We evaluated 427 subjects, 91 HC, 140 with MCI and 196 with dementia. In the dementia group, 75 were diagnosed with LBD and 121 with other dementias. ASI total score was 12.7±0.4 for LBD, 2.9±0.2 for HC, 5±0.7 for MCI, and 5.4±2.6 for other causes of dementia. ROC curve analysis showed a sensitivity of 90.7% and a specificity of 93.6% stands, with 9 as the cutoff with better test performance compared against other groups. CONCLUSION: ASI is a brief screening tool for LBD with high sensitivity and specificity and useful even for non-medical staff.
