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1.
Dev Med Child Neurol ; 66(3): 353-361, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37691416

RESUMEN

AIM: To assess how atypical language organization after early left-hemispheric brain lesions affects grey matter in the contralesional hemisphere. METHOD: This was a cross-sectional study with between-group comparisons of 14 patients (six female, 8-26 years) with perinatal left-hemispheric brain lesions (two arterial ischemic strokes, 11 periventricular haemorrhagic infarctions, one without classification) and 14 typically developing age-matched controls (TDC) with functional magnetic resonance imaging (fMRI) documented left-hemispheric language organization (six female, 8-28 years). MRI data were analysed with SPM12, CAT12, and custom scripts. Language lateralization indices were determined by fMRI within a prefrontal mask and right-hemispheric grey matter group differences by voxel-based morphometry (VBM). RESULTS: FMRI revealed left-dominance in seven patients with typical language organization (TYP) and right-dominance in seven patients with atypical language organization (ATYP) of 14 patients. VBM analysis of all patients versus controls showed grey matter reductions in the middle temporal gyrus of patients. A comparison between the two patient subgroups revealed an increase of grey matter in the middle frontal gyrus in the ATYP group. Voxel-based regression analysis confirmed that grey matter increases in the middle frontal gyrus were correlated with atypical language organization. INTERPRETATION: Compatible with a non-specific lesion effect, we found areas of grey matter reduction in patients as compared to TDC. The grey matter increase in the middle frontal gyrus seems to reflect a specific compensatory effect in patients with atypical language organization. WHAT THIS PAPER ADDS: Perinatal stroke leads to decreased grey matter in the contralesional hemisphere. Atypical language organization is associated with grey matter increases in contralesional language areas.


Asunto(s)
Encéfalo , Sustancia Gris , Humanos , Femenino , Niño , Adolescente , Adulto Joven , Adulto , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Mapeo Encefálico/métodos , Estudios Transversales , Lenguaje , Imagen por Resonancia Magnética/métodos , Infarto , Lateralidad Funcional
2.
Epilepsia ; 63(1): 42-60, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34741301

RESUMEN

OBJECTIVE: Focal cortical dysplasia (FCD) Type 1 and its three subtypes have yet not been fully characterized at the clinical, anatomopathological, and molecular level (International League Against Epilepsy [ILAE] FCD classification from 2011). We aimed to describe the clinical phenotype of patients with histopathologically confirmed FCD1A obtained from a single epilepsy center between 2002 and 2016. METHODS: Medical records were retrieved from the hospital's archive. Results from electroencephalography (EEG) video recordings, neuroimaging, and histopathology were reevaluated. Magnetic resonance imaging (MRI) post-processing was retrospectively performed in nine patients. DNA methylation studies were carried out from archival surgical brain tissue in 11 patients. RESULTS: Nineteen children with a histopathological diagnosis of FCD1A were included. The average onset of epilepsy was 0.9 years (range 0.2-10 years). All children had severe cognitive impairment and one third had mild motor deficits, yet fine finger movements were preserved in all patients. All patients had daily seizures, being drug resistant from disease onset. Interictal electroencephalography revealed bilateral multi-regional epileptiform discharges. Interictal status epilepticus was observed in 8 and countless subclinical seizures in 11 patients. Regional continuous irregular slow waves were of higher lateralizing and localizing yield than spikes. Posterior background rhythms were normal in 16 of 19 children. Neuroimaging showed unilateral multilobar hypoplasia and increased T2-FLAIR signals of the white matter in 18 of 19 patients. All children underwent tailored multilobar resections, with seizure freedom achieved in 47% (Engel class I). There was no case with frontal involvement without involvement of the posterior quadrant by MRI and histopathology. DNA methylation profiling distinguished FCD1A samples from all other epilepsy specimens and controls. SIGNIFICANCE: We identified a cohort of young children with drug resistance from seizure onset, bad EEG with posterior emphasis, lack of any focal neurological deficits but severe cognitive impairment, subtle hypoplasia of the epileptogenic area on MRI, and histopathologically defined and molecularly confirmed by DNA methylation analysis as FCD ILAE Type 1A.


Asunto(s)
Epilepsia , Malformaciones del Desarrollo Cortical , Preescolar , Electroencefalografía , Epilepsia/cirugía , Humanos , Imagen por Resonancia Magnética , Malformaciones del Desarrollo Cortical/complicaciones , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Malformaciones del Desarrollo Cortical/genética , Estudios Retrospectivos , Convulsiones/cirugía , Resultado del Tratamiento
3.
Nervenarzt ; 93(2): 142-150, 2022 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-34718829

RESUMEN

Hemispherotomies represent a major part of surgical interventions for epilepsy in childhood (16-21%). The anatomical resection has been replaced by minimally invasive disconnection techniques with lower perioperative mortality and fewer postoperative complications. Today the procedure is not only carried out from the lateral aspect via the Sylvian fissure/insula but also via a vertical parasagittal approach. Depending on the publication, hemispherotomy leads to freedom from postoperative seizures in 60-90% of patients. Despite changes in the surgical technique, disturbances of the cerebrospinal fluid circulation continue to be the main complication in 5-15% of cases. Hemispheric epileptogenic lesions usually lead to early onset and difficult to treat epilepsy in childhood. These epilepsies are characterized by a high frequency of seizures and propagation of epileptic discharges to the healthy hemisphere. The aim of a hemispherotomy is, in addition to postoperative freedom from seizures, the complete disconnection of the affected hemisphere. When deciding on a hemispherotomy, the expected functional consequences play a major role in addition to epileptological aspects. In the case of deficits already present preoperatively (hemianopia, hemiparesis) or reorganization of functions in the contralesional hemisphere (language), no new deficits are to be expected from the operation. In terms of cognition, a hemispherotomy can improve function by releasing the neuroplastic potential of the healthy hemisphere. In order to keep the negative and often irreversible effects of epilepsy as low as possible and to be able to use as much potential for neuroplasticity of the healthy hemisphere as possible, surgery should be considered as early as possible.


Asunto(s)
Epilepsia , Hemisferectomía , Niño , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/cirugía , Humanos , Convulsiones , Resultado del Tratamiento
4.
Neuropediatrics ; 52(6): 469-474, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34255332

RESUMEN

BACKGROUND: Childhood stroke is rare and can predispose to post-stroke epilepsy. The purpose of this study was to evaluate long-term quality of life (QoL) in patients with childhood stroke, focusing on epileptic aspects. METHOD: This involves a retrospective study of 98 patients with childhood stroke (pre- and neonatal strokes excluded), who had been inpatients between 1986 and 2003 for early rehabilitation. Data were obtained via interviews using a standardized questionnaire: QoL evaluation with KINDL, functional outcome with Barthel Index, and motor handicaps-assessment with modified Rankin Score. RESULTS: Forty-nine of 98 patients (31 males, mean follow-up 16 years, range 8-25 years) were included. Six patients passed away (three of sudden unexpected death in epilepsy). At least one epileptic seizure occurred in 27/49 patients (occurrence: 2 days-13 years.; mean 3.3 years.). Epilepsy manifested in 19/49 patients. No correlation was found between the development of epilepsy and the location or etiology of the stroke. The presence of functional independence was significantly higher in seizure-free patients and in patients without epilepsy. For the external assessment (filled in for the patient by the parent/caregiver), there was no significant difference in QoL in patients with and without epilepsy; however, in the in-person KINDL questionnaire a significantly lower QoL was noted in epilepsy patients compared with patients without epilepsy. CONCLUSION: One important finding in our study is that in the long-term course 39% of patients developed epilepsy after a childhood stroke. It occurred as late as 13 years after the acute episode and affected the QoL especially in cognitively less handicapped patients.


Asunto(s)
Epilepsia , Accidente Cerebrovascular , Niño , Epilepsia/etiología , Humanos , Recién Nacido , Masculino , Calidad de Vida , Estudios Retrospectivos , Convulsiones/complicaciones , Accidente Cerebrovascular/complicaciones
5.
Neuropediatrics ; 51(4): 267-274, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32176927

RESUMEN

BACKGROUND: Dog-assisted therapy (DAT) is increasingly applied in neurorehabilitation of patients with severe neurological impairments. To date, there are only anecdotal reports investigating its effects. OBJECTIVES: This study was aimed to evaluate the potential of DAT in pediatric inpatient neurorehabilitation for severely neurologically impaired children and adolescents, to identify characteristics of patients receiving this therapy, characteristics of the therapy sessions, and to evaluate feasibility and extent of goal achievement. METHODS: We retrospectively analyzed 850 DAT sessions performed between 2010 and 2017 at an inpatient neurorehabilitation center. The dataset included 196 children and adolescents (Md = 5.50, 0.58-20.33 years) suffering from severe neurological impairments (disorders of consciousness in 37 patients) of various etiologies. We extracted information regarding patient and session characteristics, analyzed the predefined goals with content analysis, and examined to what extent the goals were met during DAT. Data were analyzed using descriptive statistics. RESULTS: Patients received an average of 4.34 therapy sessions. A total of 247 of 392 predefined goals (63%) were reached during DAT. The most frequently achieved goal was "enhancing fun" (83%), followed by "establishing contact and communication" (81%), and "relaxation" (71%). Only one critical incident regarding the dogs' safety occurred. CONCLUSION: DAT is a feasible approach and appears to facilitate emotional, social, and psychological goals in children and adolescents with severe neurological impairment.


Asunto(s)
Terapia Asistida por Animales , Niños con Discapacidad/rehabilitación , Enfermedades del Sistema Nervioso/rehabilitación , Rehabilitación Neurológica , Adolescente , Adulto , Terapia Asistida por Animales/métodos , Animales , Niño , Preescolar , Trastornos de la Conciencia/rehabilitación , Perros , Estudios de Factibilidad , Femenino , Humanos , Lactante , Masculino , Rehabilitación Neurológica/métodos , Evaluación de Resultado en la Atención de Salud , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Adulto Joven
6.
Neuropediatrics ; 50(2): 71-79, 2019 04.
Artículo en Inglés | MEDLINE | ID: mdl-30572371

RESUMEN

Among 131 children admitted to our institution for early phase rehabilitation after freshwater near-drowning (ND) between the year 1986 and 2000, 87 were in unresponsive wakefulness syndrome (UWS) for at least 4 weeks after the accidents. An anonymous questionnaire was sent to the families after 0.5 to 15.0 years (median: 4.6) and 48 mothers and 51 fathers of 55 of these 87 children were interviewed after 6.6 to 23.8 years (median: 13.8) of ND. At the time of the interviews, 8/55 children were able to perform daily living activities independently, 36/55 children were not able to do so (many of them suffered from chronic medical conditions like spasticity or disorders of swallowing), and 11/55 children had died. Health-related quality of life (HRQoL) was, however, similar to the normal population for mothers, and even higher for fathers. Furthermore, the ND accident had apparently not lead to a higher rate of separations of parents but had increased their likelihood to have further children. Feelings of guilt were highly prevalent (23/47 mothers, 20/47 fathers), and correlated with lower HRQoL of the respective parent. We found correlations between duty of supervision and feelings of guilt and between outcome and HRQoL for only the fathers. In conclusion, we found that after 4 weeks in UWS, the long-term neurological outcome of pediatric ND victims is often but not always poor. Despite often severe disabilities or death of the child during long-term care, parents surprisingly report little impact on their HRQoL, on the stability of their partnership or on their wish to have further children. Our findings may help parents and physicians to choose the best treatment for a child in UWS due to different etiologies striking the balance between rehabilitation and palliative care.


Asunto(s)
Ahogamiento Inminente/psicología , Padres/psicología , Estado Vegetativo Persistente/psicología , Calidad de Vida/psicología , Encuestas y Cuestionarios , Vigilia , Niño , Preescolar , Femenino , Culpa , Humanos , Lactante , Masculino , Ahogamiento Inminente/diagnóstico , Estado Vegetativo Persistente/diagnóstico , Factores de Tiempo , Resultado del Tratamiento
7.
Epilepsy Behav ; 91: 68-74, 2019 02.
Artículo en Inglés | MEDLINE | ID: mdl-30061008

RESUMEN

BACKGROUND: Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE) is a newly described, rare histopathologic entity detected in resected brain tissue of patients with refractory epilepsies. It shows a predominantly frontal localization causing a difficult-to-treat epilepsy with onset usually in early childhood. Histologically, MOGHE is characterized by blurred gray-white-matter boundaries with increased numbers of heterotopic neurons in the subcortical white matter and increased density of oligodendroglia. Little is known, to date, about radiologic features of MOGHE. Here, we report typical and age-related magnetic resonance (MR) characteristics of MOGHE. PATIENTS AND METHODS: Retrospective analysis of 40 preoperative MR images of 25 pediatric patients with MOGHE (m/f: 13/12) who underwent epilepsy surgery at a median age of 9.3 years at our center between 2003 and 2018. Median age at magnetic resonance imaging (MRI) was 5.2 years (1.5-20.7 years). RESULTS: Two MR subtypes were found: subtype I with an increased laminar T2 and fluid attenuated inversion recovery (FLAIR) signal at the corticomedullary junction and subtype II with reduced corticomedullary differentiation because of increased signal of the adjacent white matter. Distribution of subtypes was age-related, with subtype I occurring between 1.5 and 5.1 years (median 2.6 years) and subtype II between 3.4 and 20.7 years (median 14.1 years). In one patient, MRI at the age of 2.7 years showed subtype I but had converted to subtype II by the age of 16 years. Histology revealed that in addition to the above mentioned typical findings of MOGHE, patchy areas of reduced density of myelin in 6 of 7 patients presenting subtype I out of 14 patients in which retrospective analysis regarding myelination was accessible. CONCLUSION: Magnetic resonance characteristics in patients with MOGHE are age-related and seem to change from subtype I to subtype II probably because of maturational processes between 3 and 6 years. Patchy areas of hypomyelination in histology seem to disappear during brain maturation and may therefore represent the histologic correlate of laminar T2 and FLAIR hyperintensities in subtype I. This article is part of the Special Issue "Individualized Epilepsy Management: Medicines, Surgery and Beyond".


Asunto(s)
Encéfalo/diagnóstico por imagen , Epilepsia Refractaria/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Malformaciones del Desarrollo Cortical/diagnóstico por imagen , Oligodendroglía/patología , Adolescente , Factores de Edad , Encéfalo/cirugía , Niño , Preescolar , Epilepsia Refractaria/cirugía , Femenino , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/cirugía , Humanos , Hiperplasia/diagnóstico por imagen , Hiperplasia/cirugía , Lactante , Espectroscopía de Resonancia Magnética/métodos , Masculino , Malformaciones del Desarrollo Cortical/cirugía , Proyectos Piloto , Estudios Retrospectivos , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/cirugía , Adulto Joven
8.
Neuropediatrics ; 49(2): 142-149, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29351692

RESUMEN

AIM: Diagnosing homonymous hemianopia (HH) in children can be difficult due to inability to comply with perimetry. Therefore, HH can often only be suspected by magnetic resonance imaging (MRI) showing lesions to the retrochiasmatic visual pathways. The aim of our retrospective observational cross-sectional study was to improve the radiologic detection of HH. METHODS: MRIs of 21 subjects (5-17 years old) with ophthalmologically confirmed HH (14 complete, 7 incomplete hemianopias) were analyzed. In addition, we asked four questions looking at everyday problems possibly related to the HH. The questions asked for (1) problems in avoiding objects/people, (2) bumping into objects/people, (3) difficulties in judging stairs, and (4) difficulties in grasping objects. RESULTS: We found neuroanatomical correlates of the HH in all 21 participants, with the optic radiation being involved in almost all participants (20/21). Everyday problems possibly related to the HH were reported for all nine patients with postneonatally acquired complete hemianopias. In contrast, no such problems were reported for seven patients with incomplete HH (7/7) and for 3/5 patients with complete hemianopias due to pre-, peri- or neonatally acquired brain lesions. INTERPRETATION: A dedicated radiologic analysis of the retrochiasmatic optic pathway should routinely be performed in children with brain lesions to identify children with HH. Early onset and incomplete HH are predictors for successful compensation.


Asunto(s)
Hemianopsia/diagnóstico por imagen , Imagen por Resonancia Magnética , Quiasma Óptico/diagnóstico por imagen , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Hemianopsia/fisiopatología , Hemianopsia/psicología , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Encuestas y Cuestionarios , Pruebas del Campo Visual , Campos Visuales/fisiología
9.
Brain ; 139(Pt 9): 2456-68, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27383529

RESUMEN

Hemidisconnections (i.e. hemispherectomies or hemispherotomies) invariably lead to contralateral hemiparesis. Many patients with a pre-existing hemiparesis, however, experience no deterioration in motor functions, and some can still grasp with their paretic hand after hemidisconnection. The scope of our study was to predict this phenomenon. Hypothesizing that preserved contralateral grasping ability after hemidisconnection can only occur in patients controlling their paretic hands via ipsilateral corticospinal projections already in the preoperative situation, we analysed the asymmetries of the brainstem (by manual magnetic resonance imaging volumetry) and of the structural connectivity of the corticospinal tracts within the brainstem (by magnetic resonance imaging diffusion tractography), assuming that marked hypoplasia or Wallerian degeneration on the lesioned side in patients who can grasp with their paretic hands indicate ipsilateral control. One hundred and two patients who underwent hemidisconnections between 0.8 and 36 years of age were included. Before the operation, contralateral hand function was normal in 3/102 patients, 47/102 patients showed hemiparetic grasping ability and 52/102 patients could not grasp with their paretic hands. After hemidisconnection, 20/102 patients showed a preserved grasping ability, and 5/102 patients began to grasp with their paretic hands only after the operation. All these 25 patients suffered from pre- or perinatal brain lesions. Thirty of 102 patients lost their grasping ability. This group included all seven patients with a post-neonatally acquired or progressive brain lesion who could grasp before the operation, and also all three patients with a preoperatively normal hand function. The remaining 52/102 patients were unable to grasp pre- and postoperatively. On magnetic resonance imaging, the patients with preserved grasping showed significantly more asymmetric brainstem volumes than the patients who lost their grasping ability. Similarly, these patients showed striking asymmetries in the structural connectivity of the corticospinal tracts. In summary, normal preoperative hand function and a post-neonatally acquired or progressive lesion predict a loss of grasping ability after hemidisconnection. A postoperatively preserved grasping ability is possible in hemiparetic patients with pre- or perinatal lesions, and this is highly likely when the brainstem is asymmetric and especially when the structural connectivity of the corticospinal tracts within the brainstem is asymmetric.


Asunto(s)
Tronco Encefálico/diagnóstico por imagen , Mano/fisiopatología , Hemisferectomía/efectos adversos , Imagen por Resonancia Magnética/métodos , Actividad Motora/fisiología , Evaluación de Resultado en la Atención de Salud , Paresia/fisiopatología , Complicaciones Posoperatorias , Tractos Piramidales/diagnóstico por imagen , Adolescente , Adulto , Niño , Preescolar , Imagen de Difusión Tensora/métodos , Femenino , Humanos , Lactante , Masculino , Paresia/congénito , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/fisiopatología , Pronóstico , Adulto Joven
10.
Neuropediatrics ; 48(2): 66-71, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28282668

RESUMEN

Two competing hypotheses address neuroplasticity during early brain development: the "Kennard principle" describes the compensatory capacities of the immature developing CNS as superior to those of the adult brain, whereas the "Hebb principle" argues that the young brain is especially sensitive to insults. We provide evidence that these principles are not mutually exclusive. Following early brain lesions that are unilateral, the brain can refer to homotopic areas of the healthy hemisphere. This potential for reorganization is unique to the young brain but available only when, during ontogenesis of brain development, these areas have been used for the functions addressed. With respect to motor function, ipsilateral motor tracts can be recruited, which are only available during early brain development. Language can be reorganized to the right after early left hemispheric lesions, as the representation of the language network is initially bilateral. However, even in these situations, compensatory capacities of the developing brain are found to have limitations, probably defined by early determinants. Thus, plasticity and adaptivity are seen only within ontogenetic potential; that is, axonal or cortical structures cannot be recruited beyond early developmental possibilities. The young brain is probably more sensitive and vulnerable to lesions when these are bilateral. This is shown here for bilateral periventricular white matter lesions that clearly have an impact on cortical architecture and function, thus probably interfering with early network building.


Asunto(s)
Encéfalo/crecimiento & desarrollo , Encéfalo/fisiología , Modelos Neurológicos , Plasticidad Neuronal/fisiología , Animales , Encéfalo/fisiopatología , Lesiones Encefálicas/fisiopatología , Humanos
11.
Exp Brain Res ; 234(3): 673-84, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26514810

RESUMEN

We have previously established an fMRI task battery suitable for mapping the language processing network in children. Among the tasks used, the synonyms and the vowel identification task induced robust task-related activations in children with average language abilities; however, the fixed presentation time seems to be a drawback in participants with above- or below-average language abilities. This feasibility study in healthy adults (n = 20) was aimed at adapting these tasks to the individual level of each patient by implementing a self-paced stimulus presentation. The impact of using a block- versus an event-related statistical approach was also evaluated. The self-paced modification allowed our participants with above-average language abilities to process stimuli much faster than originally implemented, likely increasing task adherence. A higher specificity of the event-related analysis was confirmed by stronger left inferior frontal and crossed cerebellar activations. We suggest that self-paced paradigms and event-related analyses may both increase specificity and applicability.


Asunto(s)
Mapeo Encefálico/normas , Encéfalo/fisiología , Lenguaje , Imagen por Resonancia Magnética/normas , Desempeño Psicomotor/fisiología , Tiempo de Reacción/fisiología , Adulto , Mapeo Encefálico/métodos , Femenino , Humanos , Masculino , Estimulación Luminosa/métodos
12.
Dev Med Child Neurol ; 58(7): 735-42, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26645574

RESUMEN

AIM: This study aimed to systematically map the severity of mirror movements in both hands in a prospective cohort of children with unilateral cerebral palsy, and to explore the relationship with hand function and brain lesion type. METHOD: Seventy-eight children were included (41 males, 37 females; age 9y 4mo, SD 3y 1mo, range 5-15y). Mirror movements were scored during three repetitive tasks following Woods and Teuber criteria. Strength, tone, Melbourne Assessment, Jebsen-Taylor test, and Assisting Hand Assessment were evaluated. Lesions were classified into malformations (n=5), periventricular (n=43), cortico-subcortical (n=22), and postnatally acquired lesions (n=8). RESULTS: Significantly more mirror movements were observed in the non-paretic versus the paretic hand (p≤0.003). Higher mirror movement scores in the non-paretic hand significantly correlated with lower distal strength and lower scores on unimanual and bimanual assessments (r=0.29-0.41). In the paretic hand, significant differences were found between lesion types (p=0.03). INTERPRETATION: The occurrence of mirror movements in the non-paretic hand seems related to hand function while mirror movements in the paretic hand seem more related to the lesion timing, whereby children with earlier lesions present with more mirror movements.


Asunto(s)
Lesiones Encefálicas/complicaciones , Parálisis Cerebral/complicaciones , Lateralidad Funcional/fisiología , Mano/fisiopatología , Trastornos del Movimiento/etiología , Trastornos Psicomotores/etiología , Adolescente , Lesiones Encefálicas/diagnóstico por imagen , Parálisis Cerebral/diagnóstico por imagen , Niño , Preescolar , Estudios de Cohortes , Femenino , Fuerza de la Mano , Humanos , Imagen por Resonancia Magnética , Masculino , Trastornos del Movimiento/diagnóstico por imagen , Trastornos Psicomotores/diagnóstico por imagen , Estadísticas no Paramétricas
13.
Neuropediatrics ; 46(4): 287-91, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-26110312

RESUMEN

BACKGROUND: SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6. Heterozygous SYNGAP1 gene mutations have been associated with autism spectrum disorders, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. Here, we report a patient with a new SYNGAP1 stop mutation, and compare the phenotype with published cases with SYNGAP1 mutations and epilepsy. PATIENT: This 15-year-old nondysmorphic girl with intellectual disability developed drop attacks at the age of 2 years, later clonic and clonic-tonic as well as myoclonic seizures predominantly during sleep. The epilepsy was well-controlled by valproic acid (VPA) and later on with levetiracetam. Electroencephalogram (EEG) showed a complete EEG-normalization with eye opening as well as photosensitivity. Magnetic resonance imaging was normal. Genetic analysis revealed a de novo heterozygous stop mutation (c.348C>A, p.Y116*) in exon 4 of the SYNGAP1 gene. DISCUSSION: The main clinical features of our patient (i.e., intellectual disability and idiopathic epilepsy) are compatible with previous reports on patients with SYNGAP1 mutations. The unusual feature of complete EEG normalization with eye opening has not been reported yet for this genetic abnormality. Furthermore, our case provides further support for efficacy of VPA in patients with SYNGAP1 mutation-related epilepsy.


Asunto(s)
Epilepsias Parciales/diagnóstico , Epilepsias Parciales/genética , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/genética , Proteínas Activadoras de ras GTPasa/genética , Adolescente , Encéfalo/fisiopatología , Epilepsias Parciales/complicaciones , Epilepsia Generalizada/complicaciones , Femenino , Humanos , Mutación
14.
Neuropediatrics ; 46(2): 110-6, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25730374

RESUMEN

OBJECTIVE: This article aims to report the first clinical experiences concerning effectiveness and tolerability of perampanel (PER) in a pediatric population with refractory epilepsies. PATIENTS AND METHODS: This nonsponsored, observational, retrospective survey was conducted through collaboration with multiple centers in Europe. The clinical course of the first pediatric patients treated in these centers with PER was documented with the help of a questionnaire completed by the treating physicians. Effectiveness and adverse effects were evaluated. The study population consisted of 58 patients (mean age, 10.5 years; range, 2-17 years), suffering from various refractory epilepsies, classified as focal epilepsy (n = 36), unclassified generalized epilepsy (n = 12), Lennox-Gastaut syndrome (n = 5), West syndrome (n = 3), and Dravet syndrome (n = 2). RESULTS: The response rate (≥ 50% seizure reduction) after the first 3 months of therapy was 31% (18/58 patients) in total. Complete seizure control was achieved in five patients (9% overall). Aggravation of seizures occurred in five cases (9%). The most frequently occurring adverse effects were reduced vigilance or fatigue (n = 16) and behavioral changes (n = 14). DISCUSSION: PER seems to be effective also in children and adolescents with pharmaco-refractory epilepsies. Tolerability was acceptable.


Asunto(s)
Epilepsia Refractaria/tratamiento farmacológico , Piridonas/uso terapéutico , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Nitrilos , Piridonas/efectos adversos , Receptores AMPA/antagonistas & inhibidores , Estudios Retrospectivos , Resultado del Tratamiento
15.
Dev Med Child Neurol ; 57(10): 977-80, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26104046

RESUMEN

We report on a patient with mirror movements sustained by a mono-hemispheric fast control of bilateral hand muscles and normal hand function. Transcranial magnetic stimulation of the right motor cortex evoked contractions of muscles in both hands while no responses were observed from the left hemisphere. Somatosensory-evoked potentials, functional magnetic resonance, and diffusion tractography showed evidence of sensorimotor dissociation and asymmetry of corticospinal projections, suggestive of reorganization after early unilateral left brain lesion. This is the first evidence that, in certain rare conditions, good hand function is possible with ipsilateral corticospinal reorganization, supporting the role of unexplored mechanisms of motor recovery.


Asunto(s)
Mano/fisiopatología , Actividad Motora/fisiología , Corteza Motora/fisiopatología , Adolescente , Imagen de Difusión Tensora , Potenciales Evocados Somatosensoriales , Lateralidad Funcional , Humanos , Imagen por Resonancia Magnética , Masculino , Corteza Motora/lesiones , Corteza Motora/patología , Trastornos del Movimiento/etiología , Trastornos del Movimiento/patología , Trastornos del Movimiento/fisiopatología , Vías Nerviosas/patología , Vías Nerviosas/fisiopatología , Estimulación Magnética Transcraneal
16.
Neuropediatrics ; 50(S 02): e1, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31509859
17.
Neuropediatrics ; 45(6): 341-5, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25029016

RESUMEN

PURPOSE: The aim of the article is to investigate whether motor competence and cognitive abilities influence the quality of performance of activities of daily living (ADL) in children with hemiparesis. Patients and METHODS: A total of 20 children with hemiparesis (age, 6-12 years; 11 congenital, 9 acquired during childhood) were studied. Motor competence was assessed with the Assisting Hand Assessment, cognitive abilities with the German version of the Wechsler Intelligence Scale for Children IV, and the quality of ADL performance with the Assessment of Motor and Process Skills (AMPS). RESULTS: The motor skills scale of the AMPS correlated with motor competence, and the process skills scale of the AMPS correlated with cognitive abilities. CONCLUSION: The quality of ADL performance is influenced not only by motor competence but also by the cognitive abilities of a hemiparetic child. This suggests that, in addition to motor-oriented training programs, an optimal therapy for hemiparetic children should also consider cognitive approaches.


Asunto(s)
Actividades Cotidianas , Parálisis Cerebral/fisiopatología , Parálisis Cerebral/psicología , Paresia/fisiopatología , Paresia/psicología , Parálisis Cerebral/complicaciones , Niño , Cognición , Femenino , Humanos , Masculino , Destreza Motora , Paresia/complicaciones
18.
Neuropediatrics ; 45(6): 402-5, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25343329

RESUMEN

A total of 30 children and adolescents with dysphagia due to various chronic neurological disorders were assessed for their risk of aspiration. This assessment was performed clinically by experienced speech and swallowing therapists, and verified thereafter by fiberoptic endoscopy. We found the clinical judgment to be correct in only 70% (for aspiration of saliva), 55% (of puree), and 67% (of thin liquids). We conclude that, because of this unacceptably high error rate of clinical assessment, a fiberoptic evaluation of swallowing is a necessary diagnostic step both for the planning of therapy and for the development of feeding strategies in children and adolescents with neurogenic dysphagia.


Asunto(s)
Broncoscopía , Trastornos de Deglución/diagnóstico , Enfermedades del Sistema Nervioso/complicaciones , Aspiración Respiratoria/diagnóstico , Adolescente , Niño , Preescolar , Deglución , Trastornos de Deglución/complicaciones , Femenino , Tecnología de Fibra Óptica , Humanos , Lactante , Masculino , Factores de Riesgo
20.
Front Pediatr ; 12: 1338855, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38774297

RESUMEN

Objectives: This study aims to investigate the long-term language outcome in children with unilateral childhood stroke in comparison to those with perinatal strokes and typically developing individuals and to explore the impact of lesion-specific modifiers. Methods: We examined nine patients with childhood stroke, acquired between 0;2 and 16;1 years (CHILD; 3 female, median = 13.5 years, 6 left-sided), 23 patients with perinatal strokes (PERI; 11 female, median = 12.5 years, 16 left-sided), and 33 age-matched typically developing individuals (CONTROL; 15 female, median = 12.33 years). The language outcome was assessed using age-appropriate tasks of the Potsdam Illinois Test of Psycholinguistic Abilities (P-ITPA) or the Peabody Picture Vocabulary Test (PPVT). For group comparisons, study-specific language z-scores were calculated. Non-verbal intelligence was assessed using the Test of Non-verbal Intelligence (TONI-4), language lateralization with functional MRI, and lesion size with MRI-based volumetry. Results: All four patients with childhood stroke who initially presented with aphasic symptoms recovered from aphasia. Patients with childhood stroke showed significantly lower language scores than those in the control group, but their scores were similar to those of the patients with perinatal stroke, after adjusting for general intelligence (ANCOVA, language z-score CHILD = -0.30, PERI = -0.38, CONTROL = 0.42). Among the patients with childhood stroke, none of the possible modifying factors, including lesion side, correlated significantly with the language outcome. Conclusion: Childhood stroke, regardless of the affected hemisphere, can lead to chronic language deficits, even though affected children show a "full recovery." The rehabilitation of children and adolescents with childhood stroke should address language abilities, even after the usually quick resolution of clear aphasic symptoms.

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