RESUMO
No disponible
Assuntos
Humanos , Masculino , Lactente , Proteína 2 de Ligação a Metil-CpG/genética , Mutação/genética , Duplicação Gênica/genética , Deficiências do Desenvolvimento/genética , SíndromeRESUMO
No disponible
Assuntos
Humanos , Masculino , Lactente , Neurofibromatose 1/etiologia , Hemangioma Cavernoso do Sistema Nervoso Central/genética , Sialorreia/complicações , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Sialorreia/diagnóstico , Sialorreia/patologia , Crânio/diagnóstico por imagem , Crânio/patologia , EletroencefalografiaRESUMO
Introducción. La alta prevalencia del trastorno por déficit de atención/hiperactividad (TDAH), con al menos un alumno por aula, supone un reto para todos los profesionales que están en contacto con ellos, en especial para los maestros. Objetivo. Examinar los conocimientos de los maestros de educación primaria sobre el TDAH en tres áreas (información general, síntomas y diagnóstico, y tratamiento). Sujetos y métodos. Un total de 125 maestros de educación primaria de varias comunidades cumplimentaron la Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS). Resultados. Los maestros contestaron de forma correcta a menos de la mitad de los ítems, y la subescala de síntomas y diagnóstico es donde más conocimientos demostraron. Los maestros que habían tenido niños con TDAH en clase mostraron más conocimientos en las áreas de información general y tratamiento, pero no en la subescala de síntomas y diagnóstico. Un 32,8% de los maestros describe sentirse poco o nada capaz de enseñar eficazmente a niños con TDAH y recomienda la educación especial como mejor estilo educativo. Los maestros con formación específica en TDAH obtuvieron mejores resultados en la KADDS en comparación con los maestros sin formación. Conclusión. Los maestros formados en TDAH demuestran un mayor grado de conocimiento y aumenta su confianza para llevar a cabo la labor educativa de los niños con TDAH (AU)
Introduction. The high prevalence of attention deficit hyperactivity disorder (ADHD), with at least one pupil per classroom, poses a challenge for all the professionals in contact with them, especially for teachers. Aim. To examine how much primary school teachers know about ADHD in three areas (general information, symptoms and diagnosis, and treatment). Subjects and methods. 125 primary school teachers from different communities answered the Knowledge of Attention Deficit Hyperactivity Disorder Scale (KADDS). Results. The teachers answered fewer than half the items correctly, the symptoms and diagnosis subscale being the one where they were seen to be most knowledgeable. Teachers who had had children with ADHD in class displayed greater knowledge in the areas of general information and treatment, but less on the symptoms and diagnosis subscale. 32.8% of the teachers reported feeling somewhat or totally unable to teach children with ADHD in an effective way and recommend special education as a better educational style. Teachers with specific training in ADHD obtained better scores than those who had not received such instruction. Conclusion. Teachers with training in ADHD are more knowledgeable and more confident about their abilities when it comes to teaching children with ADHD (AU)
Assuntos
Humanos , Criança , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos do Neurodesenvolvimento/diagnóstico , Conhecimentos, Atitudes e Prática em Saúde , Docentes/estatística & dados numéricos , Inquéritos e QuestionáriosRESUMO
INTRODUCTION: The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. CASE REPORT: We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5. CONCLUSIONS: We review the reported cases, intragenic SOX5 deletions and larger 12p12 deletions encompassing SOX5. We analyze the genotype-phenotype associations and the genes involved in our patient.
TITLE: Microdelecion 12p12 que incluye el gen SOX5: un nuevo sindrome con alteracion del neurodesarrollo.Introduccion. El gen SOX5 codifica un factor de transcripcion implicado en la regulacion de la condrogenia y el desarrollo del sistema nervioso. Caso clinico. Niña de 10 anos con discapacidad intelectual, alteracion conductual y malformaciones menores de este nuevo sindrome con alteracion en el neurodesarrollo, con una delecion 12p12 que incluye el gen SOX5. Conclusiones. Se revisan los casos publicados tanto de deleciones intragenicas de SOX5 como de deleciones mas grandes que incluyen este gen, y se analizan las correlaciones genotipo-fenotipo y los genes implicados en esta paciente.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 12/ultraestrutura , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Transtornos do Neurodesenvolvimento/genética , Fatores de Transcrição SOXD/genética , Anormalidades Múltiplas/genética , Centrômero/ultraestrutura , Criança , Cromossomos Humanos Par 12/genética , Hibridização Genômica Comparativa , Feminino , Mutação em Linhagem Germinativa , Humanos , Íntrons/genética , Microcefalia/genética , Fenótipo , Fatores de Transcrição SOXD/deficiência , Comportamento Autodestrutivo/genética , Deleção de Sequência , SíndromeRESUMO
Introducción. El gen SOX5 codifica un factor de transcripción implicado en la regulación de la condrogenia y el desarrollo del sistema nervioso. Caso clínico. Niña de 10 años con discapacidad intelectual, alteración conductual y malformaciones menores de este nuevo síndrome con alteración en el neurodesarrollo, con una deleción 12p12 que incluye el gen SOX5. Conclusiones. Se revisan los casos publicados tanto de deleciones intragénicas de SOX5 como de deleciones más grandes que incluyen este gen, y se analizan las correlaciones enotipo-fenotipo y los genes implicados en esta paciente (AU)
Introduction. The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Case report. We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5. Conclusions. We review the reported cases, intragenic SOX5 deletions and larger 12p12 deletions encompassing SOX5. We analyze the genotype-phenotype associations and the genes involved in our patient (AU)
Assuntos
Criança , Feminino , Humanos , Síndrome da Deleção 22q11/complicações , Síndrome da Deleção 22q11/metabolismo , Genética Comportamental/classificação , Neurologia/ética , Neurologia , Doenças do Sistema Nervoso/induzido quimicamente , Doenças do Sistema Nervoso/metabolismo , Síndrome da Deleção 22q11/induzido quimicamente , Síndrome da Deleção 22q11/patologia , Genética Comportamental/métodos , Neurologia/classificação , Neurologia/métodos , Doenças do Sistema Nervoso/patologia , Doenças do Sistema Nervoso/reabilitaçãoRESUMO
Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the RAB3GAP1/2 genes, in the main exons of RAB18, nor in the TBC1D20 gene. However, the analysis with CGH-array detected a 9.6 Mb deletion at 1q43-qter. We performed a genotype-phenotype correlation using 20 previously published patients in whom the coordinates of the deleted regions were defined. The comparative analysis revealed that the current patient and three of the other 20 patients share the loss of six genes, four of which are related with the family of G proteins, and are strongly expressed in the brain, retina, heart and kidney. Consequently, their haploinsufficiency may result in different combinations of clinical alterations, including some of those of WARBM syndrome. In addition, the haploinsufficiency of other genes may contribute to other defects and clinical variability. Additionally, for the genotype-phenotype correlation, one must also consider molecular pathways that can result in the observed alterations. To early confirm a genetic diagnosis is essential for the patient and family. The current patient was considered as having a recessive syndrome, but since he had a "de novo" deletion, there was not an increased recurrence risk.
Assuntos
Anormalidades Múltiplas/genética , Catarata/congênito , Córnea/anormalidades , Haploinsuficiência , Hipogonadismo/genética , Deficiência Intelectual/genética , Microcefalia/genética , Atrofia Óptica/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/patologia , Proteínas Adaptadoras de Transdução de Sinal/deficiência , Proteínas Adaptadoras de Transdução de Sinal/genética , Adolescente , Catarata/diagnóstico , Catarata/genética , Catarata/patologia , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Hibridização Genômica Comparativa , Córnea/patologia , Citocinas , Análise Mutacional de DNA , Éxons , Forminas , Estudos de Associação Genética , Humanos , Hipogonadismo/diagnóstico , Hipogonadismo/patologia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/patologia , Peptídeos e Proteínas de Sinalização Intercelular/deficiência , Peptídeos e Proteínas de Sinalização Intercelular/genética , Masculino , Microcefalia/diagnóstico , Microcefalia/patologia , Proteínas dos Microfilamentos/deficiência , Proteínas dos Microfilamentos/genética , Proteínas Nucleares/deficiência , Proteínas Nucleares/genética , Atrofia Óptica/diagnóstico , Atrofia Óptica/patologia , Proteínas RGS/deficiência , Proteínas RGS/genética , Receptor Muscarínico M3 , Receptores Muscarínicos/deficiência , Receptores Muscarínicos/genética , Opsinas de Bastonetes/deficiência , Opsinas de Bastonetes/genéticaRESUMO
Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype. The most detailed descriptions of INCL have come from Finland and a few series have been reported from southern European countries. Clinical course and follow-up of six Spanish patients with INCL are reported with the aim of assessing the chronological evolution and severity of this disease. The age at disease onset ranged from 8 to 15 months. Delayed motor skills were the initial symptom when the disease began before 12 months of age, and ataxia was the first sign when the disease began later. Cognitive decline, which is described between 12 and 18 months of age, occurred from 16 to 20 months of age. In our series early stage is characterized by motor impairment, cognitive decline and autistic features. Visual failure may appear simultaneously with the neurological symptoms, leading quickly to blindness. As reported, psychomotor regression appeared between 2 and 3 years of age. Myoclonic jerks occurred after 24 months of age and epilepsy was the last symptom of the disease. We report two novel mutations in a patient without epilepsy to date and describe the features of two siblings homozygous for the V181M (c.541G>A) mutation, associated with the most severe INCL phenotype. The clinical evolution might be helpful to identify patients affected by this rare disease. Early diagnosis is essential in order to provide genetic counselling to affected families. Our series may contribute to the study of the genotype-phenotype INCL correlation in the Mediterranean countries.
Assuntos
Lipofuscinoses Ceroides Neuronais/genética , Lipofuscinoses Ceroides Neuronais/fisiopatologia , Encéfalo/patologia , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Seguimentos , Humanos , Masculino , Lipofuscinoses Ceroides Neuronais/diagnóstico , Lipofuscinoses Ceroides Neuronais/patologia , Tioléster Hidrolases/genéticaRESUMO
Brucellosis is a zoonosis transmittable to humans. The transmission is mainly by consumption of unpasteurized milk or its products. Cases in the first year are very uncommon and other modes of transmission are responsible at this age. We report two children with brucellosis diagnosed at 7 and 2 months old where the probable way of transmission is the breast milk.
