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Your search keyword '"Neural Cell Adhesion Molecules"' showing total 2 results
Start Over Descriptor "Neural Cell Adhesion Molecules" Language spanish; castilian
2 results on '"Neural Cell Adhesion Molecules"'

1. [Intragenic deletions of NRXN1: three new case reports and a review of the phenotype].

Author

Galán-Sánchez F, Esteban-Cantó V, Blaya-Fernández P, Jadraque-Rodríguez R, Manchón-Trives I, and Alcaraz-Más L

Subjects
Calcium-Binding Proteins, Child, Exons, Humans, Male, Neural Cell Adhesion Molecules, Pedigree, Phenotype, Cell Adhesion Molecules, Neuronal genetics, Gene Deletion, Nerve Tissue Proteins genetics
Abstract

Aim: To offer data on the phenotype determined by microdeletions of alpha exons in the NRXN1 gene., Case Reports: Three neuropaediatric cases of intragenic microdeletions of NRXN1 alpha are studied. The phenotype of these three cases is unspecific, with mild-moderate mental retardation, behavioural disorders and slight dysmorphic traits or malformations., Conclusions: The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation.

Published
2015

2. [Differential diagnosis between the autistic spectrum and the schizophrenic spectrum].

Author

Paula-Pérez I

Subjects
Adolescent, Affective Symptoms etiology, Calcium-Binding Proteins, Cell Adhesion Molecules, Neuronal genetics, Child, Child Development Disorders, Pervasive complications, Child Development Disorders, Pervasive genetics, Child Development Disorders, Pervasive psychology, Comorbidity, Diagnosis, Differential, Diagnostic and Statistical Manual of Mental Disorders, Female, Hallucinations etiology, Humans, Interview, Psychological, Language Disorders etiology, Male, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Neural Cell Adhesion Molecules, Schizophrenia complications, Schizophrenia genetics, Schizophrenic Language, Schizophrenic Psychology, Social Behavior Disorders etiology, Somatosensory Disorders etiology, Stereotypic Movement Disorder etiology, Symptom Assessment, Child Development Disorders, Pervasive diagnosis, Schizophrenia diagnosis
Abstract

Introduction: The nosological distinction between the autistic spectrum and the schizophrenic spectrum is clearly defined today, despite scientific evidence of the genetic relationship between the two conditions. The overlap between the negative symptoms of schizophrenia and certain autistic manifestations, and the fact that professionals who are not familiar with autistic spectrum disorders have misguidedly attributed positive symptoms of schizophrenia in autism together highlight the importance of deciphering the keys that make it possible to reach a differential diagnosis or to evaluate the comorbidity and co-occurrence of both spectra when this is the case., Development: The article analyses and unravels the manifestations of autism that could be mistaken for the psychotic dimension and the disorganisation dimension corresponding to the positive symptoms of the schizophrenic spectrum. It also seeks to clarify the psychological explanations justifying the manifestation of certain negative symptoms frequently associated with autism., Conclusions: The keys to determining whether the clinical manifestations belong to the autistic spectrum, the schizophrenic spectrum or result from comorbidity lie in the evaluation of the developmental history of the person, the prodrome and onset of the condition, its course and the presence or absence of positive symptoms of schizophrenia. Determining them will play a crucial role in helping the professional to make decisions concerning both the diagnosis and treatment.

Published
2012

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