高压氧与孤独症
自闭症(孤独症)历史
文献报道,最早研究有关自闭症的是Dr. Leo Kanner (Johns Hopkins Hospital), 于1943年开始有文献报告。随后数十年,传统西医概念把自闭症并入精神科疾病中。根据世界卫生组织国际疾病分类手册 International Classification of Disease (ICD), 2007第5章V - Mental and behavioural disorders中的定义涵括为广泛性发展障碍F84 - Pervasive developmental disorders (PDD)
自闭症-泛自闭症障碍成因
现时2008年,目前为止其肯定成因尚未完全清楚。不过近代一般学者均承认:自闭症患者中,可能存在有基因因素、环境因素,部分患者中的中枢神经系统,有一定程度的受损。出现普遍性 “发展障碍 developmental disabilities”;部分患者可以伴随有智障、癫痫、过动、退缩以及情绪障碍等。
普遍情况下,自闭症出现在第一胎男婴的机会相当高,男性的出现机会率比例是女性的三~四倍。本港的调查发现,男女比例大约是六比一(实时说每7个患者中,有6名是男性,1名是女性)。
由于目前仍无法对自闭症的成因或遗传性质提出任何解释,或者尚未能够找到指标性基因与自闭症中的直接关系;加上自闭症患者的临床表现个别差异可以很大;成因始终尚未完全清楚,因此目前无法发展出任何一套肯定而有效的治疗方法。
现时自闭症患者,只有藉助及早诊断 (early screening)、认知教学、语言沟通训练等教育来协助改善其障碍的程度。其它由临床心理学家、言语治疗师、高压氧医学提供的辅助治疗尚有 音乐治疗、艺术治疗、游戏治疗、高压氧治疗等等;但因无法完全获得根治,故目前,自闭症仍被视为一种终身障碍。
广泛性发展障碍 - Pervasive Developmental Disorders (PDD)
Pervasive Developmental Disorders Classification
根据世界卫生组织国际疾病分类手册 International Classification of Disease (ICD), 2007第5章V - Mental and behavioural disorders中的定义.
F84 - Pervasive developmental disorders - A group of disorders characterized by qualitative abnormalities in reciprocal social interactions and in patterns of communication, and by a restricted, stereotyped, repetitive repertoire of interests and activities. These qualitative abnormalities are a pervasive feature of the individual's functioning in all situations
F84.0 Childhood autism - A type of pervasive developmental disorder that is defined by: (a) the presence of abnormal or impaired development that is manifest before the age of three years, and (b) the characteristic type of abnormal functioning in all the three areas of psychopathology: reciprocal social interaction, communication, and restricted, stereotyped, repetitive behaviour. In addition to these specific diagnostic features, a range of other nonspecific problems are common, such as phobias, sleeping and eating disturbances, temper tantrums, and (self-directed) aggression.
F84.1 Atypical autism - A type of pervasive developmental disorder that differs from childhood autism either in age of onset or in failing to fulfill all three sets of diagnostic criteria. This subcategory should be used when there is abnormal and impaired development that is present only after age three years, and a lack of sufficient demonstrable abnormalities in one or two of the three areas of psychopathology required for the diagnosis of autism (namely, reciprocal social interactions, communication, and restricted, stereotyped, repetitive behaviour) in spite of characteristic abnormalities in the other area(s). Atypical autism arises most often in profoundly retarded individuals and in individuals with a severe specific developmental disorder of receptive language. (Atypical childhood psychosis; Mental retardation with autistic features)
F84.2 Rett's syndrome - A condition, so far found only in girls, in which apparently normal early development is followed by partial or complete loss of speech and of skills in locomotion and use of hands, together with deceleration in head growth, usually with an onset between seven and 24 months of age. Loss of purposive hand movements, hand-wringing stereotypes, and hyperventilation are characteristic. Social and play development are arrested but social interest tends to be maintained. Trunk ataxia and apraxia start to develop by age four years and choreoathetoid movements frequently follow. Severe mental retardation almost invariably results.
F84.3 Other childhood disintegrative disorder - A type of pervasive developmental disorder that is defined by a period of entirely normal development before the onset of the disorder, followed by a definite loss of previously acquired skills in several areas of development over the course of a few months. Typically, this is accompanied by a general loss of interest in the environment, by stereotyped, repetitive motor mannerisms, and by autistic-like abnormalities in social interaction and communication. In some cases the disorder can be shown to be due to some associated encephalopathy but the diagnosis should be made on the behavioural features. Dementia infantilis; Disintegrative psychosis; Heller's syndrome, Symbiotic psychosis。
现在所知与自闭症 - 广泛性发展障碍相关的因素与自闭症相关的因素,可以归纳为以下几项:.
(I) 怀孕期间的病毒感染:
如果妇女在怀孕期间,因为感染国德国麻疹或流行性感冒病毒感染,可以引发胎儿的脑部发育受损伤而导致自闭症的出现。从母体经胎盘传送到胎儿的免疫坑体(autoantibodies, proteins at 37kDa and 73kDa) 在ASD的母亲血液中水平较高,可能对胎儿脑发展成为ASD有关研究,是其中一个例子。
可以参考的文献:
(a) Dalton P, Deacon R, Blamire A, Pike M, McKinlay I, Stein J, Styles P, Vincent A. Maternal neuronalantibodies associated with autism and a language disorder. Ann Neurol 2003;53:533–537.
(b) Hertz-Picciotto I, Croen LA, Hansen R, Jones CR, van de Water J, Pessah IN. The CHARGE study: anepidemiologic investigation of genetic and environmental factors contributing to autism. EnvironHealth Perspect 2006;114:1119–1125.
(II) 遗传性新陈代谢疾病:
如苯酮尿症的先天的新陈代谢障碍,造成脑细胞的功能失调和障碍,最后影响脑神经讯息传递的功能,而表现为自闭症。至于苯酮尿症(phenylketonuria;英文简写PKU),是一种体染色体隐性遗传疾病。主要是由于体内苯丙胺酸(phenylalanine;Phe) 羟化(hydroxylation) 成酪胺酸(tyrosine;Tyr) 的代谢途径机障所引起的,先天代谢异常疾病。现已知有五种不同酵素的缺乏,会造成此种代谢机障。苯酮尿症的临床症状为,毛发展现黄色、皮肤苍白干燥及智能残障等后遗症。部分患者临床症状除了典型苯酮尿症有的症状外,尚可以有严重的神经症状(如抽搐)、生长发育迟缓、容易感染等问题。
(III) 胎儿脑部受伤:
包括在怀孕期间多种因素造成胎儿脑部缺氧,引发婴儿脑发育不全;怀孕妇女在生产过程中出现难产、新生儿脑伤,以及婴儿期因感染脑炎、脑膜炎等疾病造成脑部伤害等因素,都可能增加自闭症机会。以上提及的母体经胎盘传送到胎儿的免疫坑体等等。 近年磁力共振脑部扫描显影技术,包括应用 “Proton magnetic resonance spectroscopy (1H-MRS)”等,分别发现 ASD儿童脑部有功能上、结构上及细胞水平上的变异,其中包括大脑皮质以及灰质、细胞糖代谢变异,证据越加丰富。
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