RESUMEN
OBJECTIVE: To assess compliance with the 2017 Saudi pediatric status epilepticus management guidelines and to printout the main obstacle for adherence to the guidelines. METHODS: A cross sectional study conducted in September 2019, using electronic survey. The survey sent to all the Pediatric Emergency physicians practicing in Kingdom of Saudi Arabia (KSA) through emails and WhatsApp and the questionnaire based on clinical scenario written in English language. RESULTS: One hundred and three (70%) of 147 physicians working in KSA and covering pediatric emergency departments responded to the survey. Only 20% of the physicians reported full compliance to all 4 guideline components; 57% reported that they were not aware of the published guidelines. CONCLUSION: Pediatric emergency physicians reported poor compliance to the 2017 published guidelines for the treatment of children with convulsive status epilepticus in KSA.
Asunto(s)
Adhesión a Directriz/estadística & datos numéricos , Pediatras , Guías de Práctica Clínica como Asunto , Pautas de la Práctica en Medicina , Estado Epiléptico/terapia , Estudios Transversales , Servicio de Urgencia en Hospital , Conocimientos, Actitudes y Práctica en Salud , Humanos , Arabia Saudita , Encuestas y CuestionariosRESUMEN
OBJECTIVE: To describe the epilepsy, neuropsychiatric manifestations, and neuroimaging findings in a group of patients with 22q11.2 DS, and to correlate the size of the deleted genetic material with the severity of the phenotype. METHODS: We retrospectively analyzed the medical records of 28 patients (21 pediatric patients and 7 adults) with a genetically confirmed diagnosis of 22q11.2 DS. Clinical data (epilepsy, neurological exam, neuropsychological and developmental assessment, and psychiatric disorders), neuroimaging, and cytogenetic tests were analyzed RESULTS: Of the 28 patients with 22q11.2 DS, 6 (21.4%) had epileptic seizures, 2 had symptomatic hypocalcemic seizures, 4 (14.2%) had a psychiatric disorder, which comprised of attention deficit hyperactivity disorder, autism spectrum disorder, psychosis, and mood disorder, and 17 (60.7%) had developmental delay. All patients with epilepsy had a developmental delay. Twelve patients underwent a neuropsychology assessment. Intellectual levels ranged from moderate intellectual disability (7/12, 58%) to average (5/12, 41.6%). Of the 16 patients, 6 (37.5%) had a normal brain, while 10 (62.5%) had abnormal neuroimaging findings. No significant correlation was found between the size of the deleted genetic material and the severity of the phenotype. CONCLUSION: 22q11.2DS patients are at high risk to develop epilepsy, neuropsychiatric manifestations, and structural brain abnormalities. This indicates that this defined genetic locus is crucial for the development of the nervous system, and patients with 22q11.2 DS have genetic susceptibility to develop epilepsy.
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Síndrome de DiGeorge/complicaciones , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/patología , Adolescente , Preescolar , Discapacidades del Desarrollo/genética , Epilepsia/genética , Estudios de Asociación Genética , Humanos , Discapacidad Intelectual/genética , Masculino , Trastornos Mentales/genética , Neuroimagen , Estudios Retrospectivos , Adulto JovenRESUMEN
Cerebral palsy is a syndrome that encompasses a large group of childhood movement and posture disorders that result from a lesion occurring in the developing brain. The clinical presentation of many metabolic and genetic conditions, particularly in highly consanguineous populations, can mimic cerebral palsy particularly at early age. The aim of this review article is to identify the clinical features that should alert the physician to the possibility of disorders that resemble cerebral palsy, the clinical and neuroimaging red flags, and highlight some metabolic and genetic conditions which may present with spasticity, ataxia and dyskinesia. In the case of metabolic or genetic disorder, making a precise diagnosis is particularly important for the possibility of treatment, accurate prognosis and genetic counseling.
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Parálisis Cerebral/diagnóstico , Enfermedades Genéticas Congénitas/diagnóstico , Enfermedades Metabólicas/diagnóstico , Diagnóstico Diferencial , HumanosRESUMEN
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detected by array comparative genomic hybridization. This unbalanced t(1;7) was found to be inherited from a balanced translocation from the mother. All the patients presented with hypotonia, microcephaly, developmental delay, seizures, abnormal corpus callosum and abnormal cerebellum.
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Encéfalo/anomalías , Cromosomas Humanos Par 1/genética , Cromosomas Humanos Par 7/genética , Discapacidades del Desarrollo/diagnóstico , Translocación Genética , Hibridación Genómica Comparativa , Discapacidades del Desarrollo/diagnóstico por imagen , Discapacidades del Desarrollo/genética , Femenino , Humanos , Masculino , LinajeRESUMEN
New-onset psychosis in children represents a complex presenting symptom. Psychosis can be attributable to a combination of factors and etiologies, and all possible causes must be systematically examined. There is growing evidence that a proportion of psychosis/ psychiatric manifestations in children may be immunemediated, and physicians should consider this etiology in each presentation of first-episode psychosis. Immunemediated encephalopathies/encephalitis are increasingly being recognized in children with antibodies to N-methyl-D-aspartate receptor, Leucine-rich gliomainactivated 1 or other central nervous system antigens such as Contactin-associated protein-like 2, glutamic acid decarboxylase, alpha-amino-3-hydroxy-5-methyl-4isoxazolepropionic acid or Gamma-aminobutyric acid B. In this study, we describe 3 cases of immune-mediated encephalopathy/encephalitis with prominent psychiatric symptoms at presentation, and suggest a practical diagnostic and treatment approach for children with acute psychosis of an immune-mediated cause.
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Encefalitis Antirreceptor N-Metil-D-Aspartato/complicaciones , Enfermedad de Hashimoto/complicaciones , Trastornos Psicóticos/etiología , Encefalitis Antirreceptor N-Metil-D-Aspartato/diagnóstico , Encefalitis Antirreceptor N-Metil-D-Aspartato/tratamiento farmacológico , Encefalitis Antirreceptor N-Metil-D-Aspartato/inmunología , Anticonvulsivantes/uso terapéutico , Autoanticuerpos/inmunología , Niño , Preescolar , Encefalitis/complicaciones , Encefalitis/diagnóstico , Encefalitis/tratamiento farmacológico , Encefalitis/inmunología , Femenino , Enfermedad de Hashimoto/diagnóstico , Enfermedad de Hashimoto/tratamiento farmacológico , Enfermedad de Hashimoto/inmunología , Humanos , Inmunoglobulinas Intravenosas/uso terapéutico , Factores Inmunológicos/uso terapéutico , Inmunosupresores/uso terapéutico , Péptidos y Proteínas de Señalización Intracelular , Masculino , Proteínas/inmunología , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/inmunología , Trastornos Psicóticos/terapiaAsunto(s)
Discapacidades del Desarrollo , Oligosacáridos/orina , Trastornos Psicomotores , Preescolar , Consanguinidad , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/diagnóstico por imagen , Discapacidades del Desarrollo/orina , Humanos , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Masculino , Trastornos Psicomotores/diagnóstico por imagen , Trastornos Psicomotores/etiología , Trastornos Psicomotores/orinaRESUMEN
BACKGROUND AND OBJECTIVES: Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a developmental epileptic encephalopathy characterized by seizure improvement after pyridoxine supplementation. Adjunct lysine reduction therapies reduce the accumulation of putative neurotoxic metabolites with the goal to improve developmental outcomes. Our objective was to examine the association between treatment with lysine reduction therapies and cognitive outcomes. METHODS: Participants were recruited from within the International Registry for Patients with Pyridoxine-Dependent Epilepsy from August 2014 through March 2021. The primary outcome was standardized developmental test scores associated with overall cognitive ability. The relationship between test scores and treatment was analyzed with multivariable linear regression using a mixed-effects model. A priori, we hypothesized that treatment in early infancy with pyridoxine and lysine reduction therapies would result in a normal developmental outcome. A sub-analysis was performed to evaluate the association between cognitive outcome and lysine reduction therapies initiated in the first six months of life. RESULTS: A total of 112 test scores from 60 participants were available. On average, treatment with pyridoxine and lysine reduction therapies was associated with a non-significant increase of 6.9 points (95% CI -2.7 to 16.5) on developmental testing compared to treatment with pyridoxine alone. For the sub-analysis, a total of 14 developmental testing scores were available from 8 participants. On average, treatment with pyridoxine and lysine reduction therapies in the first six months of life was associated with a significant increase of 21.9 points (95% CI 1.7 to 42.0) on developmental testing. DISCUSSION: Pyridoxine and lysine reduction therapies at any age was associated with mild improvement in developmental testing and treatment in early infancy was associated with a clinically significant increase in developmental test scores. These results provide insight into the mechanism of intellectual and developmental disability in PDE-ALDH7A1 and emphasize the importance of treatment in early infancy with both pyridoxine and lysine reduction therapies. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that in PDE-ALDH7A1, pyridoxine plus lysine reduction therapies compared to pyridoxine alone is not significantly associated with overall higher developmental testing scores, but treatment in the first six months of life is associated with significantly higher developmental testing scores.