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BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype-phenotype correlation has been reported. METHODS: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature. RESULTS: Neurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability/attention deficit hyperactivity disorder/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions. CONCLUSION: We present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype-phenotype correlation between some KBG features and specific ANKRD11 variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.
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Anomalías Múltiples , Trastorno del Espectro Autista , Enfermedades del Desarrollo Óseo , Discapacidad Intelectual , Anomalías Dentarias , Masculino , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/genética , Anomalías Múltiples/diagnóstico , Enfermedades del Desarrollo Óseo/genética , Anomalías Dentarias/genética , Facies , Trastorno del Espectro Autista/genética , Variaciones en el Número de Copia de ADN , Proteínas Represoras/genética , Deleción Cromosómica , Fenotipo , Factores de Transcripción/genéticaRESUMEN
Joubert syndrome (JS) is a clinically and genetically heterogeneous genetic disorder. To date, 40 JS-causing genes have been reported and CPLANE1 is one of the most frequently mutated, with biallelic pathogenic missense and truncating variants explaining up to 14% of JS cases. We present a case of JS diagnosed after the identification of a novel biallelic intragenic duplication of exons 20-46 of CPLANE1. The quadruplication was identified by short-read sequencing and copy number variant analysis and confirmed in tandem by long PCR with the breakpoints defined by a nanopore-based long-read sequencing approach. Based on the genetic findings and the clinical presentation of the patient, a brain MRI was ordered, evidencing the molar tooth sign, which confirmed the diagnosis of JS in the patient. This is, to the best of our knowledge, the first report of an intragenic duplication in this gene as the potential molecular mechanism of JS.
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Anomalías Múltiples , Anomalías del Ojo , Enfermedades Renales Quísticas , Humanos , Retina/patología , Cerebelo , Anomalías Múltiples/genética , Enfermedades Renales Quísticas/diagnóstico , Anomalías del Ojo/genéticaRESUMEN
OBJECTIVE: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of syndromes, including Lennox-Gastaut syndrome (LGS), which are refractory to multiple therapies. Perampanel efficacy has been reported in LGS but further real-world evidence is needed in DEEs. METHODS: A multicenter, retrospective, 1-year observational study in patients with DEEs on adjuvant perampanel treatment was conducted to assess perampanel safety and effectiveness in this type of patients in a real-world setting. Seizure types [focal onset seizures (FOS), generalized tonic-clonic seizures (GTCS), tonic seizures (TS), atonic seizures (AtS), atypical absences (AA), and myoclonic seizures (MS)] and seizure clusters were divided in different frequency groups: daily, weekly, and monthly seizures, and absent or seizure freedom. Patients could have more than one seizure type. For each frequency group, group change and seizure freedom were analyzed. RESULTS: Eighty-seven patients diagnosed with DEEs (45 males) of median age 22 [1-70] years were included. The most frequent DEEs were LGS (35.6%) and Lennox-like syndrome (37.9%). At baseline 20 patients had three to five types of seizures, 36 patients had two types of seizures and 31 patients had one predominant type of seizure. The mean number of seizure types per patient at baseline was 2.12 ± 0.97 which was reduced to 1.62 ± 0.91 at 12 months (p < 0.001). Overall, 51.7% of patients had a significant improvement in at least one seizure type. At baseline, 45 patients had GTCS, 42 FOS, 41 TS, 18 AA, 16 AtS, 11 MS, and 30 seizures clusters. Seizure freedom for each specific type at 12 months was significantly achieved by 35% of patients with GTCS (p < 0.001), 17% (p = 0.016) with TS and 37% with seizure clusters (p < 0.001). Patients achieved seizure freedom from other seizure types but with no statistical significance: 7% FOS-free, 28% AA-free, 6% Ats-free, and 18% MS-free. Regarding changes of group at 12 months, 22% of TS and 19% of FOS improved significantly to a group with lower seizure frequency (p = 0.004 and p = 0.02, respectively). In remaining groups (4% of GTCS, 11% of AA, 18% of Ats, 18% of MS, and 13% of seizure clusters), the improvement was not statistically significant. Twenty-nine patients discontinued perampanel: 18 (21%) due to AEs, 8 (9%) due to lack of efficacy, and 3 (3%) due to seizure worsening. Adverse events, mostly mild or moderate, were reported in 53% of patients, and irritability/mood changes (22%) and somnolence (17%) were the most frequent. CONCLUSION: This is the first large-scale real-world study with perampanel across different seizure types in patients with DEEs. Perampanel was effective, especially in GTCS, TS, and FOS, as well as in seizure clusters. Perampanel was generally well-tolerated without unexpected AEs.
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Epilepsias Mioclónicas , Epilepsia Generalizada , Síndrome de Lennox-Gastaut , Adulto , Anticonvulsivantes , Humanos , Masculino , Nitrilos , Piridonas , Estudios Retrospectivos , Convulsiones , Resultado del Tratamiento , Adulto JovenRESUMEN
LAY ABSTRACT: Sleep problems are common in autism spectrum disorder (ASD) and different factors can contribute to its occurrence in this population. Misalignment of the biological clock (our circadian system) has been described as one possible explanation. While there is a body of research on sleep problems, relatively less is known about circadian functioning and the specific population of autistic children with co-occurring attention deficit hyperactivity disorder (ADHD). Using an ambulatory circadian monitoring (ACM) system, which resembles a common watch, we gathered sleep parameters and the different rhythms obtained from measuring motor activity, light exposure and distal temperature in 87 autistic children and adolescents, 27 of whom were diagnosed with co-occurring ADHD, and 30 neurotypical children and adolescents as a comparison group. Autistic children and, especially, those with co-occurring ADHD showed greater motor activity during sleep which would be worth studying in future projects which could better define this restless sleep. Of note, we observed an atypical pattern of wrist temperature, with higher values in neurotypical children, followed by autistic children and, ultimately, those with co-occurring ADHD. Temperature is one of the most valuable factors evaluated here as it is closely connected to sleep-wakefulness and the hormone melatonin. Its special pattern during day and nighttime would support the hypothesis of an atypical secretion of melatonin in autistic individuals which would also link with the higher presence of sleep problems in this neurodevelopmental condition.
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This was an exploratory cross-sectional study comparing 45 children with ASD to 24 typically developing drug-naïve controls, group-matched on age, sex, and body mass index. Objective data was obtained using the following: an ambulatory circadian monitoring device; saliva samples to determine dim light melatonin onset (DLMO): and three parent-completed measures: the Child Behavior Checklist (CBCL); the Repetitive Behavior Scale-Revised (RBS-R); and the General Health Questionnaire (GHQ28). The CBCL and RBS-R scales showed the highest scores amongst poor sleepers with ASD. Sleep fragmentation was associated with somatic complaints and self-injury, leading to a higher impact on family life. Sleep onset difficulties were associated with withdrawal, anxiety, and depression. Those with phase advanced DLMO had lower scores for "somatic complaints"; "anxious/depressed" state; and "social problems", suggesting that this phenomenon has a protective role.
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Melatonin is one of the most used pharmacologic treatments for sleep problems in autism spectrum disorder, though its relationship with circadian and sleep parameters is still not well stablished. A naturalistic study was conducted in children with autism spectrum disorder, previously drug-naïve, before and after treatment with immediate-release melatonin. Circadian rhythms and sleep parameters were studied using an ambulatory circadian-monitoring device, and saliva samples were collected enabling determination of dim light melatonin onset. Twenty-six children with autism spectrum disorder (age 10.50 ± 2.91) were included. Immediate-release melatonin modified circadian rhythm as indicated by wrist skin temperature, showing an increase at night. A positive correlation was found between time of peak melatonin and sleep efficiency improvement values. Sleep-onset latency and efficiency improved with immediate-release melatonin. Immediate-release melatonin could be an effective treatment to improve sleep onset and restore a typical pattern of wrist temperature, which appears to be lost in autism spectrum disorder.
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Trastorno del Espectro Autista , Melatonina , Humanos , Niño , Adolescente , Melatonina/uso terapéutico , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/tratamiento farmacológico , Sueño/fisiología , Ritmo Circadiano/fisiología , Resultado del TratamientoRESUMEN
BACKGROUND: Sleep problems are a prevalent comorbidity in autism spectrum disorder (ASD) with a multifactorial basis in which circadian misalignment has been described. METHODS: A cross-sectional study was conducted including 52 children and adolescents with ASD (9.85 ± 3.07) and 27 children and adolescent controls with normal intellectual functioning (8.81 ± 2.14). They were matched for age, sex, and body mass index, and all were drug-naïve. An ambulatory circadian monitoring device was used to record temperature and motor, body position, sleep, and light intensity. RESULTS: Individuals with ASD presented longer sleep-onset latency, lower sleep efficiency, and decreased total sleep time and tended to be more sedentary and have less exposure to light. They also showed lower amplitude, low interdaily stability, and a different pattern of wrist temperature across the day, with a midpoint of sleep that did not concur with sleep midpoint indicated by the rest of circadian parameters. CONCLUSIONS: The sleep problems observed in this sample resemble those reported previously, with the exception of nocturnal awakenings which did not show differences. The ambulatory circadian monitoring device enabled measurement of circadian parameters such as temperature which, until now, were scarcely described in children with ASD and could be used to better understand sleep and circadian system in ASD.
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Trastorno del Espectro Autista/fisiopatología , Ritmo Circadiano/fisiología , Trastornos del Sueño-Vigilia/fisiopatología , Actigrafía , Adolescente , Trastorno del Espectro Autista/complicaciones , Niño , Femenino , Humanos , Masculino , Monitoreo Ambulatorio , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/etiologíaRESUMEN
Introduction: Sleep problems are prevalent among individuals with autism spectrum disorder (ASD), and a role has been attributed to melatonin in this multifactorial comorbidity. Methods: A cross-sectional study was conducted on 41 autistic children and adolescents (9.9 ± 3.02) and 24 children and adolescents with a normal intellectual function (8.42 ± 2.43) were used as controls. Subjects were matched for sex, body mass index, and pubertal stage, and all were drug-naive. Circadian and sleep parameters were studied using an ambulatory circadian monitoring (ACM) device, and saliva samples were collected around the onset of sleep to determine dim light melatonin onset (DLMO). Results: Prepubertal individuals with ASD presented later DLMO and an earlier decline in melatonin during adolescence. A relationship was found between melatonin and both sleep and circadian parameters. Participants and controls with later DLMOs were more likely to have delayed sleep onset times. In the ASD group, subjects with the later daytime midpoint of temperature had a later DLMO. Later melatonin peak time and DLMO time were related to lower general motor activity and lower stability of its rhythms. Conclusion: The melatonin secretion pattern was different in individuals with ASD, and it showed a relationship with sleep and circadian parameters. Alterations in DLMO have not been previously reported in ASD with the exception of more variable DLMO timing; however, high variability in the study design and sample characteristics prevents direct comparison. The ACM device enabled the measurement of circadian rhythm, a scarcely described parameter in autistic children. When studied in combination with other measures such as melatonin, ACM can offer further knowledge on sleep problems in ASD.
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Haploinsufficiency of AUTS2 has been associated with a syndromic form of neurodevelopmental delay characterized by intellectual disability, autistic features, and microcephaly, also known as AUTS2 syndrome. While the phenotype associated with large deletions and duplications of AUTS2 is well established, clinical features of patients harboring AUTS2 sequence variants have not been extensively described. In this study, we describe the phenotype of five new patients with AUTS2 pathogenic variants, three of them harboring loss-of-function sequence variants. The phenotype of the patients was characterized by attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) or autistic features and mild global developmental delay (GDD) or intellectual disability (ID), all in 4/5 patients (80%), a frequency higher than previously reported for ADHD and autistic features. Microcephaly and short stature were found in 60% of the patients; and feeding difficulties, generalized hypotonia, and ptosis, were each found in 40%. We also provide the aggregated frequency of the 32 items included in the AUTS2 syndrome severity score (ASSS) in patients currently reported in the literature. The main characteristics of the syndrome are GDD/ID in 98% of patients, microcephaly in 65%, feeding difficulties in 62%, ADHD or hyperactivity in 54%, and autistic traits in 52%. Finally, using the location of 31 variants from the literature together with variants from the five patients, we found significantly higher ASSS values in patients with pathogenic variants affecting the 3' end of the gene, confirming the genotype-phenotype correlation initially described.
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Trastorno por Déficit de Atención con Hiperactividad/etiología , Trastorno del Espectro Autista/etiología , Proteínas del Citoesqueleto/genética , Factores de Transcripción/genética , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno del Espectro Autista/genética , Niño , Preescolar , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/genética , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Discapacidad Intelectual/genética , Mutación con Pérdida de Función , Masculino , SíndromeRESUMEN
BACKGROUND: Training in autistic spectrum disorders is crucial in order to achieve an early diagnosis. However, the number of papers describing this training is limited. This study describes this level of knowledge among paediatricians from tertiary care hospitals in different regions of Spain and detects areas that need improvement. MATERIAL AND METHOD: A total of one hundred and fifty-seven (157) paediatricians working in tertiary healthcare hospitals located in three different regions in Spain consented to complete an online questionnaire divided in three sections (socio-demographic, knowledge about childhood autism, and opinion). Data were analysed using SPSS version 15. RESULTS: The total mean score of participating paediatricians in the questionnaire was 20.34 (± 2.43 SD) out of a total possible score of 23. Approximately two-thirds (65%) of paediatricians scored more or equal to the mean score. The knowledge gap was found to be higher with symptoms of repetitive behaviour patterns, concept of autism, and comorbidity, with no statistical significance. There were no differences in paediatrician scores within different socio-demographic groups. Just under two-thirds (64%) of paediatricians subscribed to the opinion that their own knowledge about autism is limited, and there is a significant lack of knowledge about facilities in every region. CONCLUSIONS: There is a sufficient level of knowledge about autism among paediatricians in tertiary healthcare, although a lack of awareness about the management of these patients, with poor coordination between the different specialists that are involved in their treatment. Efforts should focus on achieving a better coordination between these specialists, and update the knowledge gaps identified.
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Trastorno del Espectro Autista , Competencia Clínica , Conocimientos, Actitudes y Práctica en Salud , Cuerpo Médico de Hospitales , Pediatría/educación , Adulto , Niño , Femenino , Hospitales , Humanos , Masculino , Persona de Mediana Edad , España , Adulto JovenRESUMEN
INTRODUCTION: Leukaemia is the most frequent type of cancer at the paediatric age. The cure rate is 80% with intensive chemotherapy, which improves survival but also often increases the frequency of adverse side effects, including those of a neurological nature. AIMS: To describe the frequency and characteristics of the neurological complications (NC) in patients with acute lymphoid leukaemia (ALL) and acute myeloid leukaemia (AML), as well as to identify factors associated to their presence, neurological morbidity and survival rate. PATIENTS AND METHODS: A retrospective study was conducted of the NC present in patients with ALL and AML between 1997 and 2012 treated and followed up by the child onco-haematology unit. The following variables were analysed: demographic data, oncological diagnosis, treatment and NC. RESULTS: Altogether 157 patients were included, 145 without infiltration of the central nervous system at diagnosis and eight with infiltration (rate of NC of 14% and 12%, respectively). The most frequent NC were: neuropathies (31%), altered levels of consciousness (27%), convulsions (22%) and headache (12%). Forty per cent of the patients with NC presented sequelae but none of them died as a consequence of the NC. More NC were detected in the age group of children aged under 6 years with high-degree ALL, at higher levels of severity and in patients who had received a haematopoietic stem-cell transplant, all of them with statistically significant differences. CONCLUSIONS: Neurological complications are common in patients with acute leukaemia, especially in those at a high-risk stage (above all if they are under the age of 6 years) and with haematopoietic stem-cell transplant. The associated mortality rate is low.
TITLE: Complicaciones neurologicas en poblacion infantil con leucemia.Introduccion. La leucemia es el cancer mas frecuente en edad pediatrica. Su tasa de curacion es del 80% con quimioterapia intensiva, que mejora la supervivencia, pero que tambien aumenta la frecuencia de efectos adversos, incluyendo los neurologicos. Objetivos. Describir la frecuencia y caracteristicas de las complicaciones neurologicas (CN) en pacientes con leucemia aguda linfoide (LAL) y leucemia aguda mieloide (LAM), e identificar los factores asociados a su presencia, la tasa de morbilidad neurologica y la supervivencia. Pacientes y metodos. Estudio retrospectivo de las CN presentes durante el tratamiento y seguimiento de los pacientes con LAL y LAM entre 1997 y 2012 por la unidad de oncohematologia infantil. Variables analizadas: datos demograficos, diagnostico oncologico, tratamiento y CN. Resultados. Se incluyo un total de 157 pacientes, 145 sin infiltracion de sistema nervioso central al diagnostico y ocho con infiltracion (tasa de CN del 14 y 12%, respectivamente). Las CN mas frecuentes fueron: neuropatias (31%), alteracion del nivel de conciencia (27%), convulsiones (22%) y cefalea (12%). Un 40% de los pacientes con CN ha presentado secuelas, pero ninguno ha fallecido como consecuencia de la CN. Se han detectado mas CN en el grupo de edad menor de 6 años con LAL de alto grado, en niveles de gravedad mas altos y en pacientes que habian recibido trasplante de precursores hematopoyeticos, todas ellas con diferencias estadisticamente significativas. Conclusiones. Las complicaciones neurologicas son frecuentes en los pacientes con leucemia aguda, en especial en aquellos con estadio de riesgo alto (sobre todo si son menores de 6 años) y trasplante de precursores hematopoyeticos. La mortalidad asociada es baja.
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Leucemia Mieloide Aguda/complicaciones , Enfermedades del Sistema Nervioso/etiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/complicaciones , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Encéfalo/patología , Niño , Preescolar , Terapia Combinada , Trastornos de la Conciencia/epidemiología , Trastornos de la Conciencia/etiología , Irradiación Craneana/efectos adversos , Femenino , Cefalea/epidemiología , Cefalea/etiología , Trasplante de Células Madre Hematopoyéticas , Humanos , Lactante , Estimación de Kaplan-Meier , Leucemia Mieloide Aguda/patología , Leucemia Mieloide Aguda/terapia , Infiltración Leucémica , Masculino , Meninges/patología , Enfermedades del Sistema Nervioso/epidemiología , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Estudios Retrospectivos , Convulsiones/epidemiología , Convulsiones/etiología , Sobrevivientes , Acondicionamiento Pretrasplante/efectos adversosRESUMEN
INTRODUCTION: Hirayama disease is a rare children's muscular atrophy that affects young Asian males, with muscular atrophy usually in one of the upper limbs that progresses slowly and later stabilises. It is diagnosed by means of electromyographic/electroneurographic with conduction speed studies (EMG/ENG-CS) and by magnetic resonance imaging (MRI) of the spinal cord in a neutral position and with cervical flexion. Treatment is based on the cervical collar and surgery (severe cases). Very few studies have been conducted on patients at the paediatric age. CASE REPORT: We report the case of a 7-year-old girl with atrophy of the muscles of the left hand and forearm, and a disease history of two years. The EMG/ENG-CS scans presented signs of very severe chronic denervation in the myotomes of C7, C8 and T1 on the left side, with conservation of the amplitudes of sensory evoked potentials, consistent with cervical myelopathy. Results of an MRI scan of the cervical spinal cord in a neutral position were normal at that level. Later, owing to suspicions pointing towards Hirayama disease, a new MRI scan of the cervical spinal cord was performed in a neutral position and in flexion. This second scan showed asymmetry in the size and morphology of the anterior funiculi of the spinal cord at C6/C7, hypersignal in the homolateral anterior horn and ingurgitation of the posterior epidural venous plexus. With a diagnosis of Hirayama disease, treatment is started with a cervical collar in order to prevent the damage from getting worse. CONCLUSIONS: This case of Hirayama disease is peculiar due to its epidemiological characteristics and is presented here with the aim of making this entity more widely known in our milieu. If diagnosed at an early stage, treatment is effective, and the studies conducted on children at the paediatric age are reviewed.
TITLE: Enfermedad de Hirayama en pediatria: aportacion de un caso clinico y revision de la bibliografia.Introduccion. La enfermedad de Hirayama es una rara atrofia muscular juvenil que afecta a varones jovenes de origen asiatico, con atrofia muscular habitualmente de una de las extremidades superiores de progresion lenta con estabilizacion posterior. Se diagnostica por estudios electromiograficos/electroneurograficos con velocidad de conduccion (EMG/ENG-VC), y por resonancia magnetica (RM) medular en posicion neutra y en flexion cervical. El tratamiento se basa en el collarin cervical y cirugia (casos graves). Son muy pocos los estudios realizados en edad pediatrica. Caso clinico. Niña de 7 años, con atrofia de la musculatura de la mano y el antebrazo izquierdos, de dos años de evolucion. En EMG/ENG-VC presenta signos de denervacion cronica muy grave en los miotomos correspondientes a C7, C8 y D1 izquierdos, con conservacion de amplitudes de potenciales sensitivos evocados, congruentes con mielopatia cervical. La RM medular cervical en posicion neutra muestra un resultado normal en ese nivel. Posteriormente, por la sospecha dirigida de enfermedad de Hirayama, se realiza una nueva RM medular cervical en posicion neutra y en flexion, que muestra asimetria en el tamaño y morfologia de los cordones anteriores medulares en C6/C7, hiperseñal en el asta anterior homolateral e ingurgitacion del plexo venoso epidural posterior. Con el diagnostico de enfermedad de Hirayama se inicia tratamiento con collarin cervical para evitar la progresion del daño. Conclusiones. Se presenta un caso de enfermedad de Hirayama peculiar por las caracteristicas epidemiologicas, con la finalidad de difundir esta entidad en nuestro medio, cuyo diagnostico precoz permite un tratamiento eficaz, y se revisan los estudios realizados en edad pediatrica.
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Atrofias Musculares Espinales de la Infancia/diagnóstico , Distribución por Edad , Brazo/inervación , Asia/epidemiología , Tirantes , Niño , Progresión de la Enfermedad , Diagnóstico Precoz , Electromiografía , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Cuello , Conducción Nerviosa , Examen Neurológico , Distribución por Sexo , Médula Espinal/patología , Atrofias Musculares Espinales de la Infancia/epidemiología , Atrofias Musculares Espinales de la Infancia/patología , Atrofias Musculares Espinales de la Infancia/terapiaRESUMEN
No disponible
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Humanos , Femenino , Lactante , Hipoxia/complicaciones , Convulsiones/diagnóstico , Convulsiones/etiología , Convulsiones/tratamiento farmacológico , Anticonvulsivantes/administración & dosificación , Ácido Valproico/administración & dosificación , Levetiracetam/administración & dosificaciónRESUMEN
Introducción: La formación en trastornos del espectro autista (TEA) por parte de los pediatras es esencial para su diagnóstico precoz. Sin embargo, son escasos los estudios que han cuantificado este conocimiento, por lo que el objetivo principal es determinar el nivel formativo sobre TEA entre pediatras de atención hospitalaria en diferentes comunidades e identificar aspectos a mejorar. Material y métodos: Un total de 157 pediatras de atención hospitalaria de 3 comunidades autónomas completó el cuestionario online sobre TEA, estructurado en 3 partes (sociodemográfico, nivel formativo y opinión). Los datos fueron analizados con SPSS (versión 15). Resultados La media ± desviación estándar de puntuaciones en el cuestionario fue 20,34±2,43 (puntuación máxima posible: 23). Un 65% puntúa en todos los dominios igual o superior a la media. Los conceptos menos conocidos son: patrones restringidos de conducta, concepto general TEA y comorbilidades posibles. No hay diferencias estadísticamente significativas en cuanto a las puntuaciones entre diferentes grupos de pediatras según variables sociodemográficas. Un 64% de los pediatras opina que su conocimiento sobre TEA es limitado. Destaca un desconocimiento importante sobre la disponibilidad de recursos, presente en todas las comunidades estudiadas. Conclusiones Existe un adecuado nivel general de conocimientos sobre TEA entre los pediatras, pero un deficiente conocimiento en la parte práctica del manejo de estos pacientes y en la coordinación entre los diferentes equipos que participan en el cuidado de estos. Los esfuerzos deberían centrarse en lograr una buena comunicación entre estos equipos y en mantener actualizados los conocimientos sobre TEA a todos los niveles (AU)
Background: Training in autistic spectrum disorders is crucial in order to achieve an early diagnosis. However, the number of papers describing this training is limited. This study describes this level of knowledge among paediatricians from tertiary care hospitals in different regions of Spain and detects areas that need improvement. Material and method: A total of one hundred and fifty-seven (157) paediatricians working in tertiary healthcare hospitals located in three different regions in Spain consented to complete an online questionnaire divided in three sections (socio-demographic, knowledge about childhood autism, and opinion). Data were analysed using SPSS version 15. Results: The total mean score of participating paediatricians in the questionnaire was 20.34 (± 2.43 SD) out of a total possible score of 23. Approximately two-thirds (65%) of paediatricians scored more or equal to the mean score. The knowledge gap was found to be higher with symptoms of repetitive behaviour patterns, concept of autism, and comorbidity, with no statistical significance. There were no differences in paediatrician scores within different socio-demographic groups. Just under two-thirds (64%) of paediatricians subscribed to the opinion that their own knowledge about autism is limited, and there is a significant lack of knowledge about facilities in every region. Conclusions: There is a sufficient level of knowledge about autism among paediatricians in tertiary healthcare, although a lack of awareness about the management of these patients, with poor coordination between the different specialists that are involved in their treatment. Efforts should focus on achieving a better coordination between these specialists, and update the knowledge gaps identified (AU)
Asunto(s)
Humanos , Niño , Trastorno del Espectro Autista/diagnóstico , Capacitación Profesional , Diagnóstico Precoz , Evaluación Educacional , Mejoramiento de la Calidad/tendencias , Encuestas de Atención de la Salud/estadística & datos numéricos , Conocimientos, Actitudes y Práctica en SaludRESUMEN
Introducción. La enfermedad de Hirayama es una rara atrofia muscular juvenil que afecta a varones jóvenes de origen asiático, con atrofia muscular habitualmente de una de las extremidades superiores de progresión lenta con estabilización posterior. Se diagnostica por estudios electromiográficos/electroneurográficos con velocidad de conducción (EMG/ENG-VC), y por resonancia magnética (RM) medular en posición neutra y en flexión cervical. El tratamiento se basa en el collarín cervical y cirugía (casos graves). Son muy pocos los estudios realizados en edad pediátrica. Caso clínico. Niña de 7 años, con atrofia de la musculatura de la mano y el antebrazo izquierdos, de dos años de evolución. En EMG/ENG-VC presenta signos de denervación crónica muy grave en los miótomos correspondientes a C7, C8 y D1 izquierdos, con conservación de amplitudes de potenciales sensitivos evocados, congruentes con mielopatía cervical. La RM medular cervical en posición neutra muestra un resultado normal en ese nivel. Posteriormente, por la sospecha dirigida de enfermedad de Hirayama, se realiza una nueva RM medular cervical en posición neutra y en flexión, que muestra asimetría en el tamaño y morfología de los cordones anteriores medulares en C6/C7, hiperseñal en el asta anterior homolateral e ingurgitación del plexo venoso epidural posterior. Con el diagnóstico de enfermedad de Hirayama se inicia tratamiento con collarín cervical para evitar la progresión del daño. Conclusiones. Se presenta un caso de enfermedad de Hirayama peculiar por las características epidemiológicas, con la finalidad de difundir esta entidad en nuestro medio, cuyo diagnóstico precoz permite un tratamiento eficaz, y se revisan los estudios realizados en edad pediátrica (AU)
Introduction. Hirayama disease is a rare childrens muscular atrophy that affects young Asian males, with muscular atrophy usually in one of the upper limbs that progresses slowly and later stabilises. It is diagnosed by means of electromyographic/ electroneurographic with conduction speed studies (EMG/ENG-CS) and by magnetic resonance imaging (MRI) of the spinal cord in a neutral position and with cervical flexion. Treatment is based on the cervical collar and surgery (severe cases). Very few studies have been conducted on patients at the paediatric age. Case report. We report the case of a 7-year-old girl with atrophy of the muscles of the left hand and forearm, and a disease history of two years. The EMG/ENG-CS scans presented signs of very severe chronic denervation in the myotomes of C7, C8 and T1 on the left side, with conservation of the amplitudes of sensory evoked potentials, consistent with cervical myelopathy. Results of an MRI scan of the cervical spinal cord in a neutral position were normal at that level. Later, owing to suspicions pointing towards Hirayama disease, a new MRI scan of the cervical spinal cord was performed in a neutral position and in flexion. This second scan showed asymmetry in the size and morphology of the anterior funiculi of the spinal cord at C6/C7, hypersignal in the homolateral anterior horn and ingurgitation of the posterior epidural venous plexus. With a diagnosis of Hirayama disease, treatment is started with a cervical collar in order to prevent the damage from getting worse. Conclusions. This case of Hirayama disease is peculiar due to its epidemiological characteristics and is presented here with the aim of making this entity more widely known in our milieu. If diagnosed at an early stage, treatment is effective, and the studies conducted on children at the paediatric age are reviewed (AU)
Asunto(s)
Humanos , Femenino , Niño , Masculino , Atrofias Musculares Espinales de la Infancia/diagnóstico , Atrofias Musculares Espinales de la Infancia/epidemiología , Brazo/inervación , Electromiografía , Cuello , Distribución por Edad , Tirantes , Progresión de la Enfermedad , Diagnóstico Precoz , Imagen por Resonancia Magnética , Conducción Nerviosa , Médula Espinal , Asia/epidemiologíaRESUMEN
Introducción. La leucemia es el cáncer más frecuente en edad pediátrica. Su tasa de curación es del 80% con quimioterapia intensiva, que mejora la supervivencia, pero que también aumenta la frecuencia de efectos adversos, incluyendo los neurológicos. Objetivos. Describir la frecuencia y características de las complicaciones neurológicas (CN) en pacientes con leucemia aguda linfoide (LAL) y leucemia aguda mieloide (LAM), e identificar los factores asociados a su presencia, la tasa de morbilidad neurológica y la supervivencia. Pacientes y métodos. Estudio retrospectivo de las CN presentes durante el tratamiento y seguimiento de los pacientes con LAL y LAM entre 1997 y 2012 por la unidad de oncohematología infantil. Variables analizadas: datos demográficos, diagnóstico oncológico, tratamiento y CN. Resultados. Se incluyó un total de 157 pacientes, 145 sin infiltración de sistema nervioso central al diagnóstico y ocho con infiltración (tasa de CN del 14 y 12%, respectivamente). Las CN más frecuentes fueron: neuropatías (31%), alteración del nivel de conciencia (27%), convulsiones (22%) y cefalea (12%). Un 40% de los pacientes con CN ha presentado secuelas, pero ninguno ha fallecido como consecuencia de la CN. Se han detectado más CN en el grupo de edad menor de 6 años con LAL de alto grado, en niveles de gravedad más altos y en pacientes que habían recibido trasplante de precursores hematopoyéticos, todas ellas con diferencias estadísticamente significativas. Conclusiones. Las complicaciones neurológicas son frecuentes en los pacientes con leucemia aguda, en especial en aquellos con estadio de riesgo alto (sobre todo si son menores de 6 años) y trasplante de precursores hematopoyéticos. La mortalidad asociada es baja (AU)
Introduction. Leukaemia is the most frequent type of cancer at the paediatric age. The cure rate is 80% with intensive chemotherapy, which improves survival but also often increases the frequency of adverse side effects, including those of a neurological nature. Aims. To describe the frequency and characteristics of the neurological complications (NC) in patients with acute lymphoid leukaemia (ALL) and acute myeloid leukaemia (AML), as well as to identify factors associated to their presence, neurological morbidity and survival rate. Patients and methods. A retrospective study was conducted of the NC present in patients with ALL and AML between 1997 and 2012 treated and followed up by the child onco-haematology unit. The following variables were analysed: demographic data, oncological diagnosis, treatment and NC. Results. Altogether 157 patients were included, 145 without infiltration of the central nervous system at diagnosis and eight with infiltration (rate of NC of 14% and 12%, respectively). The most frequent NC were: neuropathies (31%), altered levels of consciousness (27%), convulsions (22%) and headache (12%). Forty per cent of the patients with NC presented sequelae but none of them died as a consequence of the NC. More NC were detected in the age group of children aged under 6 years with high-degree ALL, at higher levels of severity and in patients who had received a haematopoietic stem-cell transplant, all of them with statistically significant differences. Conclusions. Neurological complications are common in patients with acute leukaemia, especially in those at a high-risk stage (above all if they are under the age of 6 years) and with haematopoietic stem-cell transplant. The associated mortality rate is low (AU)
Asunto(s)
Humanos , Masculino , Femenino , Leucemia/inducido químicamente , Leucemia/complicaciones , Leucemia/diagnóstico , Neurología/educación , Neurología/ética , Preparaciones Farmacéuticas/administración & dosificación , Leucemia/tratamiento farmacológico , Leucemia/metabolismo , Leucemia/patología , Leucemia/prevención & control , Neurología/instrumentación , Neurología , Preparaciones Farmacéuticas/análisis , Supervivencia/psicologíaRESUMEN
Introducción. Las convulsiones febriles son una de las causas más frecuentes de consulta. Hasta ahora, los pacientes con convulsiones febriles complejas (CFC) deben ingresar, dado el mayor porcentaje de epilepsia y complicaciones agudas descrito clásicamente. En la actualidad hay estudios que apoyan ser menos invasivos en el abordaje de estos pacientes. Objetivo. Describir las características de los pacientes ingresados por CFC y proponer un nuevo protocolo de actuación. Pacientes y métodos. Análisis retrospectivo de historias clínicas de ingresados por CFC (enero de 2010-diciembre de 2013). Se ofrecen datos epidemiológicos, clínicos, pruebas complementarias y evolución. Resultados. Las CFC suponían un 4,2% de los ingresos de neuropediatría (n = 67). Edad media al evento: 25 meses. El 47% tenía antecedentes familiares patológicos, y el 31%, antecedentes personales de convulsión febril previa. En el 54% de los pacientes, la CFC duró menos de cinco minutos; hubo recurrencia, la mayoría con un total de dos crisis y durante el primer día (las CFC por recurrencia son las más frecuentes). De las pruebas complementarias realizadas, ninguna de ellas sirvió como apoyo diagnóstico en el momento agudo. Durante su seguimiento, cinco pacientes presentaron complicaciones. Los pacientes con antecedentes familiares de convulsiones febriles presentan mayor riesgo de epilepsia o recurrencia (p =0,02), sin diferencias significativas respecto a la edad, número de crisis, intervalo de fiebre, estado epiléptico o tipo de CFC. Conclusiones. Las CFC no asocian mayores complicaciones agudas; las exploraciones complementarias no permiten discriminar precozmente a los pacientes de riesgo. Su ingreso podría evitarse en ausencia de otros signos clínicos y limitarse a casos seleccionados (AU)
Introduction. Febrile seizures are one of the most frequent reasons why patients visit the healthcare specialist. Up until now, patients with complex febrile seizures (CFS) have been hospitalised, bearing in mind the higher percentages of epilepsy and acute complications that were classically reported. Today there are studies that back the idea of being less invasive in the management of these patients. Aims. To describe the characteristics of patients hospitalised due to CFS and to propose a new protocol to be followed in dealing with such cases Patients and methods. The medical records of patients hospitalised because of CFS (January 2010-December 2013) were analysed retrospectively. Epidemiological and clinical data are presented, together with information from complementary tests and about development. Results. CFS account for 4.2% of all neuropaediatric cases of admittance to hospital in (67 patients). Mean age at the time of the event: 25 months. A pathological family history existed in 47% of cases, and 31% had a previous personal history of febrile seizures. The CFS lasted less than five minutes in 54% of patients; there were also recurrences, most of them with a total of two crises and during the first day (CFS due to recurrence are the most frequent). None of the complementary tests that were carried out were of any use as a diagnostic aid during the acute phase. During their follow-up, five patients presented complications. Patients with a family history of febrile seizures presented a higher risk of epilepsy or recurrence (p = 0.02), with no significant differences as regards age, number of seizures, febrile interval, epileptic status or type of CFS. Conclusions. The CFS are not associated with greater acute complications, and the complementary examinations do not allow high-risk patients to be distinguished at an early stage. Hospitalising them could be avoided in the absence of other clinical signs and symptoms, and thus be limited to selected cases (AU)