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1.
Artículo en Inglés | IMSEAR | ID: sea-159456

RESUMEN

Background: Electroencephalographic (EEG) abnormalities occur in patients with various idiopathic psychiatric disorders. Among the psychiatric patients, children have shown more EEG abnormalities as compared to the adult cases. The present study therefore examined the pattern of EEG abnormalities in children’s attending child guidance clinic of psychiatry department. Method: Electrodes were positioned according to the 10 – 20 system, using a common reference electrode. EEG recordings from 138 hospitalized psychiatric patients were graded blind to diagnosis and treatment for type of EEG abnormalities. Types of clinical diagnosis were evaluated for association with pattern EEG abnormalities. Results: EEG abnormalities occurred in 53.62% (N = 74) subjects, whereas 46.38% (N = 64) showed no abnormality in EEG record. Generalized abnormalities was observed in 37.84% (N = 28) subjects. EEG abnormality in clinically diagnosed epilepsy were commonest 64.62% (N = 42), followed by dissociative (conversion) vs. epilepsy 62.5% (N = 5), pervasive developmental disorder (PDD) 56.67% (N = 17), and mental retardation with epilepsy 28.57% (N = 10). Conclusions: EEG abnormality risk varied widely among children’s with different diagnoses referred/attending Child Guidance Clinic of psychiatry department. Risk was particularly high in clinically diagnosed epilepsy.


Asunto(s)
Electroencefalografía/anomalías , Niño , Epilepsia/anomalías , Epilepsia/diagnóstico por imagen , Estudios de Evaluación como Asunto , Humanos , Discapacidad Intelectual/diagnóstico por imagen , Trastornos Mentales/diagnóstico por imagen
2.
Indian J Hum Genet ; 2011 May; 17(2): 97-99
Artículo en Inglés | IMSEAR | ID: sea-138944

RESUMEN

Dyggve-Melchior-Clausen (DMC) syndrome is a rare autosomal recessive disorder. It is a spondyloepimetaphyseal dysplasia associated with mental retardation. Clinical manifestations include coarse facies, microcephaly, short trunk dwarfism, and mental retardation. Mutations in Dymeclin gene (DYM), mapped to chromosome 18q21.1, is responsible for DMC. We report here the observation of a consanguineous Moroccan patient having DMC syndrome. The molecular studies showed a previously reported homozygous mutation at c.1878delA of DYM gene. We discuss this recurrent mutation in Moroccan patients with DMC syndrome with a review.


Asunto(s)
Niño , Consanguinidad , /diagnóstico , Enanismo/genética , Enanismo/diagnóstico por imagen , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico por imagen , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Discapacidad Intelectual/diagnóstico por imagen , Masculino , Mutación/genética , Marruecos , Osteocondrodisplasias/congénito , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Osteocondrodisplasias/diagnóstico por imagen , Padres
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