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Tatton-Brown-Rahman syndrome (TBRS) or DNMT3A-overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants.
Assuntos
Anormalidades Múltiplas , Deficiência Intelectual , Anormalidades Musculoesqueléticas , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/genética , DNA (Citosina-5-)-Metiltransferases/genética , DNA Metiltransferase 3A , Anormalidades Múltiplas/genética , Anormalidades Musculoesqueléticas/complicações , Síndrome , NeuroimagemRESUMO
Doxycycline is a bacteriostatic antibiotic of the tetracycline group widely indicated in the treatment of numerous infections (skin, soft tissues...). Given its acid nature, doxycycline is able to potentially generate mucous damage acting as a caustic; therefore, when the capsule of doxycycline (high concentrated substance) is taken inappropriately (with a small quantity of liquid or just before laying down) and remains for a longer time in contact with the esophagus, doxycycline may cause esophagitis-type lesions and ulcerations.
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Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures. Clinically, patients with PMS often present with global developmental delay, absent or severely delayed speech, neonatal hypotonia, minor dysmorphic features, and autism spectrum disorders (ASD), among other findings. Here, we describe a cohort of 210 patients with genetically confirmed PMS. We observed multiple variant types, including a significant number of small deletions (<0.5 Mb, 64/189) and SHANK3 sequence variants (21 cases). We also detected multiple types of rearrangements among microdeletion cases, including a significant number with post-zygotic mosaicism (9.0%, 17/189), ring chromosome 22 (10.6%, 20/189), unbalanced translocations (de novo or inherited, 6.4%), and additional rearrangements at 22q13 (6.3%, 12/189) as well as other copy number variations in other chromosomes, unrelated to 22q deletions (14.8%, 28/189). We compared the clinical and genetic characteristics among patients with different sizes of deletions and with SHANK3 variants. Our findings suggest that SHANK3 plays an important role in this syndrome but is probably not uniquely responsible for all the spectrum features in PMS. We emphasize that only an adequate combination of different molecular and cytogenetic approaches allows an accurate genetic diagnosis in PMS patients. Thus, a diagnostic algorithm is proposed.
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The engulfment and cell motility 3 (ELMO3) protein belongs to the ELMO-family of proteins. ELMO proteins form a tight complex with the DOCK1-5 guanine nucleotide exchange factors that regulate RAC1 spatiotemporal activation and signalling. DOCK proteins and RAC1 are known to have fundamental roles in central nervous system development. Here, we searched for homozygous or compound heterozygous mutations in the ELMO3 gene in 390 whole exomes sequenced in trio in individuals with neurodevelopmental disorders compatible with a genetic origin. We found a compound heterozygous mutation in ELMO3 (c.1153A>T, p.Ser385Cys and c.1009 G > A, p.Val337Ile) in a 5 year old male child with autism spectrum disorder (ASD) and developmental delay. These mutations did not interfere with the formation of an ELMO3/DOCK1 complex, but markedly impaired the ability of the complex to promote RAC1-GTP-loading. Consequently, cells expressing DOCK1 and either of the ELMO3 mutants displayed impaired migration and invasion. Collectively, our results suggest that biallelic loss-of-function mutations in ELMO3 may cause a developmental delay and provide new insight into the role of ELMO3 in neurodevelopmental as well as the pathological consequences of ELMO3 mutations.
Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Masculino , Criança , Humanos , Pré-Escolar , Deficiência Intelectual/genética , Fatores de Troca do Nucleotídeo Guanina/genética , Fatores de Troca do Nucleotídeo Guanina/metabolismo , Mutação , Transdução de Sinais , Fatores de Transcrição/metabolismo , Proteínas rac1 de Ligação ao GTP/genética , Proteínas rac1 de Ligação ao GTP/metabolismo , Proteínas do Citoesqueleto/genética , Proteínas do Citoesqueleto/metabolismo , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismoRESUMO
KBG syndrome is characterized by dental, craniofacial and skeletal anomalies, short stature and global developmental delay or intellectual disability. It is caused by microdeletions or truncating mutations of ANKRD11. We report four unrelated probands with this syndrome due to de novo ANKRD11 aberrations that may contribute to a better understanding of the genetics and pathophysiology of this autosomal dominant syndrome. Clinical, cognitive and MRI assessments were performed. Three of the patients showed normal intellectual functioning, whereas the fourth had a borderline level of intellectual functioning. However, all of them showed deficits in various cognitive and socioemotional processes such as attention, executive functions, empathy or pragmatic language. Moreover, all probands displayed marked asymmetry of the uncinate fascicles and an abnormal gyrification pattern in the left frontal lobe. Thus, structural neuroimaging anomalies seem to have been overlooked in this syndrome. Disturbed frontal gyrification and/or lower structural integrity of the uncinate fascisulus might be unrecognized neuroimaging features of KBG syndrome caused by ANKRD11 aberrations. Present results also point out that this syndrome is not necessarily associated with global developmental delay and intellectual disability, but it can be related to other neurodevelopmental disorders or subclinical levels of attention-deficit hyperactivity disorder, autism, communication disorders or specific learning disabilities.
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Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Deficiência Intelectual , Proteínas Repressoras , Anormalidades Dentárias , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Facies , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/genética , Fenótipo , Proteínas Repressoras/genética , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/genéticaRESUMO
Early B cell factor 3 (EBF3) is a transcription factor involved in brain development. Heterozygous, loss-of-function mutations in EBF3 have been reported in an autosomal dominant neurodevelopmental syndrome characterized by hypotonia, ataxia, and developmental delay (sometimes described as "HADD"s). We report 2 unrelated cases with novel de novo EBF3 mutations: c.455G>T (p.Arg152Leu) and c.962dup (p.Tyr321*) to expand the genotype/phenotype correlations of this disorder; clinical, neuropsychological, and MRI studies were used to define the phenotype. IQ was in the normal range and diffusion tensor imaging revealed asymmetric alterations of the longitudinal fasciculus in both cases. Our results demonstrate that EBF3 mutations can underlie neurodevelopmental disorders without intellectual disability. Long tract abnormalities have not been previously recognized and suggest that they may be an unrecognized and characteristic feature in this syndrome.
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Mutations in the ANO3 gene have been associated with autosomal dominant craniocervical dystonia. However, little else is known about the genotype-phenotype characteristics of this disorder. Here we describe a 3 years-old girl with distal myoclonic dystonia. Whole exome sequencing in trio revealed a de novo missense ANO3 variant not previously described in international databases. A global psychomotor regression was observed once dystonia was present. Brain MRI changes paralleled these findings: whereas MRI at the age of 18 months was normal, mild brain and cerebellar atrophy was observed 18 months later. These results suggest that missense mutations in ANO3 may underlie complex disorders particularly characterized by early psychomotor regression and dystonia.
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Anoctaminas/genética , Encefalopatias/genética , Distúrbios Distônicos/genética , Transtornos Psicomotores/genética , Idade de Início , Encefalopatias/diagnóstico por imagem , Encefalopatias/patologia , Cerebelo/diagnóstico por imagem , Pré-Escolar , Distúrbios Distônicos/diagnóstico por imagem , Distúrbios Distônicos/patologia , Feminino , Humanos , Mutação de Sentido Incorreto , Transtornos Psicomotores/diagnóstico por imagem , Transtornos Psicomotores/patologiaRESUMO
Advances in genetics have been able to support the clinical suspicion on the large hereditary component of most of these neurodevelopmental disorders (NDD). Initial studies on heritability, linkage or association showed from the beginning the great contribution of genotypic variation to the clinic in general, and to NDD in particular. The effectiveness of genetic studies in clinical practice, targeted to aetiological diagnosis, should not be ignored. Most of these are protocolized in the study of disorders such as intellectual disability and autism; within these, the array comparative genomic hybridization have supported a greater diagnostic effectiveness with respect to historical cytogenetic techniques (3 vs. 10% respectively). However, the irruption and success of molecular genetic sequencing techniques, particularly the exome and genome in trio, analyzing the parents (diagnostic rates of 30-50%), are conditioning the modification of the genetic algorithms in the diagnosis of different NDD. The greater knowledge of causal variants in intellectual disability and autism is also modifying the polygenic theoretical models established to date.
Los avances en la genética han podido apoyar la sospecha que aportaba la experiencia clínica sobre el gran componente hereditario de la mayor parte de estos trastornos del neurodesarrollo (TND). Los estudios iniciales de heredabilidad, ligamiento o asociación evidenciaron desde los inicios la gran contribución de la variación genotípica a la clínica en general, y a los TND en particular. No debe obviarse la utilidad de los estudios genéticos en el ejercicio clínico, encaminados al diagnóstico etiológico. La mayor parte de los mismos están protocolizados en el estudio de trastornos como la discapacidad intelectual y el autismo; dentro de éstos, la hibridación por arrays cromosómicos ha aportado una mayor rentabilidad diagnóstica respecto a técnicas citogenéticas históricas (3 vs. 10% respectivamente). Sin embargo, la irrupción y rentabilidad de técnicas de genética molecular por secuenciación, particularmente la exómica y genómica en trío, analizando a padres, (tasas diagnósticas del 30-50%), están condicionando la modificación de los algoritmos genéticos en el diagnóstico de trastornos graves del neurodesarrollo. El mayor conocimiento de variantes causales de discapacidad intelectual y autismo está igualmente modificando los modelos teóricos poligénicos establecidos hasta la fecha.
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Modelos Genéticos , Transtornos do Neurodesenvolvimento/genética , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Hibridização Genômica Comparativa/métodos , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Transtornos do Neurodesenvolvimento/diagnóstico , Sequenciamento do Exoma/métodosRESUMO
Los avances en la genética han podido apoyar la sospecha que aportaba la experiencia clínica sobre el gran componente hereditario de la mayor parte de estos trastornos del neurodesarrollo (TND). Los estudios iniciales de heredabilidad, ligamiento o asociación evidenciaron desde los inicios la gran contribución de la variación genotípica a la clínica en general, y a los TND en particular. No debe obviarse la utilidad de los estudios genéticos en el ejercicio clínico, encaminados al diagnóstico etiológico. La mayor parte de los mismos están protocolizados en el estudio de trastornos como la discapacidad intelectual y el autismo; dentro de éstos, la hibridación por arrays cromosómicos ha aportado una mayor rentabilidad diagnóstica respecto a técnicas citogenéticas históricas (3 vs. 10% respectivamente). Sin embargo, la irrupción y rentabilidad de técnicas de genética molecular por secuenciación, particularmente la exómica y genómica en trío, analizando a padres, (tasas diagnósticas del 30-50%), están condicionando la modificación de los algoritmos genéticos en el diagnóstico de trastornos graves del neurodesarrollo. El mayor conocimiento de variantes causales de discapacidad intelectual y autismo está igualmente modificando los modelos teóricos poligénicos establecidos hasta la fecha.
Advances in genetics have been able to support the clinical suspicion on the large hereditary component of most of these neurodevelopmental disorders (NDD). Initial studies on heritability, linkage or association showed from the beginning the great contribution of genotypic variation to the clinic in general, and to NDD in particular. The effectiveness of genetic studies in clinical practice, targeted to aetiological diagnosis, should not be ignored. Most of these are protocolized in the study of disorders such as intellectual disability and autism; within these, the array comparative genomic hybridization have supported a greater diagnostic effectiveness with respect to historical cytogenetic techniques (3 vs. 10% respectively). However, the irruption and success of molecular genetic sequencing techniques, particularly the exome and genome in trio, analyzing the parents (diagnostic rates of 30-50%), are conditioning the modification of the genetic algorithms in the diagnosis of different NDD. The greater knowledge of causal variants in intellectual disability and autism is also modifying the polygenic theoretical models established to date.
Assuntos
Humanos , Transtornos do Neurodesenvolvimento/genética , Modelos Genéticos , Hibridização Genômica Comparativa/métodos , Transtornos do Neurodesenvolvimento/diagnóstico , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Sequenciamento do Exoma/métodos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genéticaRESUMO
INTRODUCTION: Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child and adolescent population, with a known impact on learning, social relations and quality of life. However, the lifestyle habits of patients with this disorder have been poorly studied. MATERIAL AND METHODS: A total of 160 children and adolescents, aged between 6 and 16 years, participated in the study. Half of them were treatment-naïve patients with a clinical diagnosis of ADHD according to DSM-IV-TR criteria, and without comorbidities. The remaining 80 participants were typically developing (TD) controls without known neurodevelopmental or psychiatric disorders. Parents of all participants completed a questionnaire about their children´s lifestyle habits (e.g, daily hours of sleep, media use and study). RESULTS: The groups had a similar socioeconomic background and did not differ with respect to age and sex distribution. However, patients with ADHD spent more time than TD children studying, and less time watching TV, playing video games, using computers and playing with other people. They also slept fewer hours per night than children and adolescents with TD. ADHD and TD groups spent similar time reading, listening to music and playing sports. CONCLUSIONS: The results of this study suggest that children and adolescents with ADHD have different lifestyle habits compared to age- and sex-matched controls. These findings are not explained by comorbid disorders or medication/ psychological treatment.
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Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Hábitos , Estilo de Vida , Adolescente , Criança , Comportamento Infantil , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Masculino , Pais , Inquéritos e Questionários , Jogos de VídeoRESUMO
Introducción. El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil con un impacto ya conocido sobre el aprendizaje, la relación social y la calidad de vida. Sin embargo, los hábitos de vida de los pacientes con este trastorno han sido pobremente estudiados. Material y métodos. Un total de ciento sesenta niños y adolescentes con edades comprendidas entre los 6 y los 16 años (104 varones y 56 mujeres) participaron en este estudio. La mitad de ellos tenían un diagnóstico de TDAH de acuerdo a los criterios del DSM-IV-TR; eran pacientes sin tratamiento y sin comorbilidades. El grupo control estaba formado por 80 niños y adolescentes sin trastornos del neurodesarrollo o psiquiátricos conocidos. Las familias completaron un cuestionario sobre los hábitos de vida de sus hijos e hijas (dedicación extraescolar -horas al día- a diferentes actividades durante la semana lectiva). Resultados. Los grupos tenían un nivel socioeconómico similar y no diferían en edad y sexo. Sin embargo, los pacientes con TDAH dedicaban más tiempo al estudio que los controles y menos a actividades como la TV, el ordenador, los videojuegos y el juego con otras personas. Además, los pacientes con TDAH dormían menos horas diarias que los controles. No se observaron diferencias entre los grupos en el tiempo dedicado a la lectura, el deporte o la música. Conclusiones. Los resultados del presente estudio sugieren que los niños y adolescentes con TDAH tienen hábitos de vida diferentes a los niños y adolescentes con desarrollo típico. Estos hallazgos no se explican por la presencia de trastornos comórbidos o por el tratamiento farmacológico o psicológico
Introduction. Attention-deficit/hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child and adolescent population, with a known impact on learning, social relations and quality of life. However, the lifestyle habits of patients with this disorder have been poorly studied. Material and methods. A total of 160 children and adolescents, aged between 6 and 16 years, participated in the study. Half of them were treatment-naïve patients with a clinical diagnosis of ADHD according to DSM-IV-TR criteria, and without comorbidities. The remaining 80 participants were typically developing (TD) controls without known neurodevelopmental or psychiatric disorders. Parents of all participants completed a questionnaire about their children's lifestyle habits (e.g, daily hours of sleep, media use and study). Results. The groups had a similar socioeconomic back-ground and did not differ with respect to age and sex distribution. However, patients with ADHD spent more time than TD children studying, and less time watching TV, playing video games, using computers and playing with other people. They also slept fewer hours per night than children and adolescents with TD. ADHD and TD groups spent similar time reading, listening to music and playing sports
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Humanos , Masculino , Feminino , Criança , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Estilo de Vida Saudável , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Qualidade de Vida/psicologia , Inquéritos e Questionários , Jogos de Vídeo/psicologiaRESUMO
The Fizzy-related protein 1 (Fzr1) gene encodes Cdh1 protein, a coactivator of the E3 ubiquitin ligase anaphase-promoting complex/cyclosome (APC/C). Previously, we found that genetic ablation of Fzr1 promotes the death of neural progenitor cells leading to neurogenesis impairment and microcephaly in mouse. To ascertain the possible translation of these findings in humans, we searched for mutations in the Fzr1 gene in 390 whole exomes sequenced in trio in individuals showing neurodevelopmental disorders compatible with a genetic origin. We found a novel missense (p.Asp187Gly) Fzr1 gene mutation (c.560A>G) in a heterozygous state in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, psychomotor retardation, and refractory epilepsy. Cdh1 protein levels in leucocytes isolated from the patient were significantly lower than those found in his parents. Expression of the Asp187Gly mutant form of Cdh1 in human embryonic kidney 293T cells produced less Cdh1 protein and APC/C activity, resulting in altered cell cycle distribution when compared with cells expressing wild-type Cdh1. Furthermore, ectopic expression of the Asp187Gly mutant form of Cdh1 in cortical progenitor cells in primary culture failed to abolish the enlargement of the replicative phase caused by knockout of endogenous Cdh1. These results indicate that the loss of function of APC/C-Cdh1 caused by Cdh1 Asp187Gly mutation is a new cause of prenatal microcephaly, psychomotor retardation, and severe epilepsy. Read the Editorial Highlight for this article on page 8. Cover Image for this issue: doi: 10.1111/jnc.14524.
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Ciclossomo-Complexo Promotor de Anáfase/genética , Antígenos CD/genética , Caderinas/genética , Epilepsia/genética , Microcefalia/genética , Transtornos Psicomotores/genética , Pré-Escolar , Humanos , Masculino , Mutação de Sentido IncorretoRESUMO
El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos -particularmente los relacionados con el aprendizaje y la ansiedad-, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educación.
Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and non-achievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.
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Humanos , Pré-Escolar , Criança , Adolescente , Ratos , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Ansiedade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Comorbidade , Desempenho Acadêmico/psicologia , Aprendizagem , Deficiências da Aprendizagem/complicações , Deficiências da Aprendizagem/psicologia , Deficiências da Aprendizagem/terapiaRESUMO
Attention deficit / hyperactivity disorder (ADHD) is one of the most prevalent disorders in the child-youth population, with a known impact on learning and school performance. Lack of attention, associated executive dysfunction and comorbid problems -particularly those related to learning and anxiety-, strongly determine this conceptual domain. Affected youths have more problems for taking notes, completion of homework, school programming and less motivation to study. Despite greater dedication to homework and greater use of support resources, school failure and nonachievement of curricular objectives are more frequent in these patients. The early diagnosis of ADHD and its comorbidities, the adequate and individualized psychoeducational and pharmacological intervention, have been shown to improve academic prognosis in the short and long term. For this purpose, the active participation of health and education professionals is essential.
El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos más prevalentes en la población infanto-juvenil, con un impacto ya conocido sobre el aprendizaje y rendimiento escolar. La falta de atención, la disfunción ejecutiva asociada y los problemas comórbidos particularmente los relacionados con el aprendizaje y la ansiedad, condicionan marcadamente este dominio conceptual. Los jóvenes afectos, tienen más problemas para la toma de apuntes, finalización de trabajos, programación escolar y menor motivación al estudio. A pesar de una mayor dedicación al estudio y mayor uso de recursos de apoyo, el fracaso escolar y la no consecución de objetivos curriculares son más frecuentes en estos pacientes. El diagnóstico temprano del TDAH y sus comorbilidades, la intervención psicoeducativa y farmacológica adecuada e individualizada, han demostrado mejorar el pronóstico académico a corto y largo plazo. Para este propósito, es imprescindible la participación activa de profesionales de la salud y la educación.
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Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Hábitos , Desempenho Acadêmico/psicologia , Adolescente , Ansiedade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/terapia , Criança , Pré-Escolar , Comorbidade , Humanos , Aprendizagem , Deficiências da Aprendizagem/complicações , Deficiências da Aprendizagem/psicologia , Deficiências da Aprendizagem/terapiaRESUMO
No disponible
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Humanos , Feminino , Idoso , Colo/lesões , Doenças do Colo/etiologia , Gastroscopia/efeitos adversos , Gastrostomia/efeitos adversos , Perfuração Intestinal/etiologia , Intubação Gastrointestinal/efeitos adversos , Colo/diagnóstico por imagem , Doenças do Colo/diagnóstico por imagem , Tratamento Conservador , Diagnóstico Tardio , Nutrição Enteral/efeitos adversos , Fístula Gástrica/diagnóstico por imagem , Fístula Gástrica/etiologia , Achados Incidentais , Intubação Gastrointestinal/instrumentação , Tomografia Computadorizada de EmissãoAssuntos
Colo/lesões , Doenças do Colo/etiologia , Gastroscopia/efeitos adversos , Gastrostomia/efeitos adversos , Perfuração Intestinal/etiologia , Intubação Gastrointestinal/efeitos adversos , Idoso , Colo/diagnóstico por imagem , Doenças do Colo/diagnóstico , Doenças do Colo/diagnóstico por imagem , Tratamento Conservador , Diagnóstico Tardio , Remoção de Dispositivo , Nutrição Enteral/efeitos adversos , Feminino , Fístula Gástrica/diagnóstico por imagem , Fístula Gástrica/etiologia , Humanos , Achados Incidentais , Fístula Intestinal/diagnóstico por imagem , Fístula Intestinal/etiologia , Perfuração Intestinal/diagnóstico , Perfuração Intestinal/diagnóstico por imagem , Intubação Gastrointestinal/instrumentação , Tomografia Computadorizada por Raios XRESUMO
Introducción. El trastorno por déficit de atención/hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo más prevalentes. Otros trastornos del neurodesarrollo pueden aparecer de forma comórbida o mimetizar el propio TDAH. Desarrollo. Se revisa la elevada prevalencia de otros trastornos del neurodesarrollo (trastornos específicos del aprendizaje, trastornos de la comunicación...) en los pacientes con TDAH. Por otro lado, entre los posibles diagnósticos diferenciales se sitúan los mismos trastornos del neurodesarrollo que pueden aparecer de forma comórbida. Se valorará, de acuerdo a la bibliografía, el papel de la valoración clínica y la neuropsicología en la distinción entre comorbilidad y mimetismo. Conclusiones. La valoración clínica podría ser insuficiente para el diagnóstico comórbido de los trastornos del neurodesarrollo. En estos casos, la valoración neuropsicológica es generalmente necesaria; ésta puede igualmente ofrecer hipótesis diagnósticas alternativas de la sintomatología observada y, por tanto, ser útil para el diagnóstico diferencial (AU)
Introduction. Attention deficit hyperactivity disorder (ADHD) is one of the most prevalent neurodevelopmental disorders. Other neurodevelopmental disorders may appear as a comorbidity or mimicking ADHD itself. Development. This study reviews the high prevalence of other neurodevelopmental disorders (specific learning difficulties, communication disorders, etc.) in patients with ADHD. Moreover, the possible differential diagnoses include the same neurodevelopmental disorders that can occur as a comorbidity. Based on the literature, the study evaluates the role of clinical evaluation and neuropsychology in distinguishing between comorbidity and mimicry. Conclusions. The clinical evaluation could be insufficient for the comorbid diagnosis of neurodevelopmental disorders. In these cases, a neuropsychological evaluation is generally required, since it can also offer alternative diagnostic hypotheses about the symptoms observed and may therefore be a valuable aid for the differential diagnosis (AU)
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Humanos , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Transtornos do Neurodesenvolvimento/diagnóstico , Neuroimagem , Diagnóstico Diferencial , Comorbidade , Deficiência Intelectual/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Predisposição Genética para DoençaRESUMO
The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. In this work, detailed familiar, clinical and genetic data were collected for 13 KCNQ2-positive patients revealed among a cohort of 80 epileptic pediatric probands from Spain who were analyzed through a targeted next-generation sequencing assay for 155 epilepsy-associated genes. This work shows for the first time the association between KCNQ2 mutations and startle attacks in 38% of patients, which opens the possibility to define electroclinical phenotypes associated to KCNQ2 mutations. It also demonstrates that KCNQ2 mutations contribute to an important percentage of Spanish patients with epilepsy. The study confirm the high genetic heterogeneity of this gene with 13 different mutations found, 10 of them novel and the better outcome of patients treated with sodium channel blockers.
Assuntos
Epilepsia Neonatal Benigna/genética , Predisposição Genética para Doença , Canal de Potássio KCNQ2/genética , Reflexo de Sobressalto/genética , Sequência de Bases , Família , Humanos , Recém-Nascido , Mutação , Fenótipo , Análise de Sequência de DNA , EspanhaRESUMO
Objetivo: Evaluar el estado nutricional en pacientes con neumonía menores de cinco años atendidos en el Hospital Nacional Almanzor Aguinaga Asenjo durante los meses EneroDiciembre2012. Materiales y Métodos: Estudio Observacional-Descriptivo, Tipo Retrospectivo y Diseño Analítico-Transversal; se utilizó una ficha de recolección de datos, en una muestra de 52 historias clínicas de niños entre 0 5 años. Se realizó un análisis univariado de variables epidemiológicas y un análisis bivariado. El procesamiento y análisis de la información se realizó con los paquetes estadísticos SPSS versión 19,0 y Epidat v. 4.0. Resultados: La clínica encontrada fue Dificultad respiratoria (82,7%) seguido de tos (75%), fiebre (57%) y roncantes hiporexia (55,8%). La desnutrición global fue del 51,9%, resaltando los grados leve (23-32,7%) y moderado (17-21%). Además, el grado de asociación entre neumonía y estado nutricional fue 2,5 (Chi cuadrado) y un p=0,775. Conclusión: El estado nutricional está íntimamente relacionado con neumonía y con mayor grado de severidad de los síntomas
RESUMO
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