Ferrando-Lucas M T, Martos-Pérez J, Llorente-Comí M, Freire-Prudencio S, Ayuda-Pascual R, Martínez Díez-Jorge C, González-Navarro A
Proyecto GENYSY (Grupo de Estudios Neonatológicos y Servicios de Intervención), Madrid, Spain.
Rev Neurol. 2002 Feb;34 Suppl 1:S49-53.
Although the concept of autistic spectrum may be useful to explain and describe the heterogeneity of the syndrome, its aetiology is still unknown. Different disorders have been reported as the biological basis of autism. Early diagnosis and a multi disciplinary approach to the condition are essential for effective psychopaedagogic treatment.
To determine whether there is a relationship between the severity of the syndrome of autism and the course of the disorder, as a function of the presence or absence of neurological features, and to define homogeneous subgroups by detecting etiological variables which may be common to them.
46 children defined as being within the spectrum of autism, in whom the diagnosis was confirmed on the autistic spectrum inventory (IDEA/Rivi re 97). Parameters studied: family history, perinatal risk, age of onset, complementary investigations and neurological features.
The diagnosis was confirmed in 18 children; of the others 14 had a specific defect of the development of language. There was an almost complete absence of underlying neurological disorders, although this may have been due to dispersion of the complementary investigations done.
Specific disorders of the development of language are the main differential diagnoses to be considered together with the autistic spectrum. The diagnosis of autism is clinical, but the heterogeneity of the medical approach interferes with the overall assessment of the spectrum favoring behavioural and underestimating the biological aspects. This means that the problem should be reconsidered so as to obtain uniform guidelines for action.
尽管自闭症谱系的概念可能有助于解释和描述该综合征的异质性,但其病因仍然不明。已有不同疾病被报道为自闭症的生物学基础。早期诊断和针对该病症的多学科方法对于有效的心理教育治疗至关重要。
确定自闭症综合征的严重程度与疾病进程之间是否存在关联,这取决于是否存在神经学特征,并通过检测可能为它们所共有的病因变量来定义同质亚组。
46名被定义为自闭症谱系内的儿童,其诊断通过自闭症谱系量表(IDEA/Rivière 97)得以确认。研究参数:家族史、围产期风险、发病年龄、辅助检查及神经学特征。
18名儿童的诊断得到确认;其他14名儿童存在特定的语言发育缺陷。几乎完全不存在潜在的神经疾病,尽管这可能是由于所做辅助检查分散所致。
特定的语言发育障碍是与自闭症谱系一同需考虑的主要鉴别诊断。自闭症的诊断是临床性的,但医学方法的异质性干扰了对该谱系的整体评估,有利于行为方面而低估了生物学方面。这意味着应重新考虑该问题,以便获得统一的行动指南。