Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Based on the abnormalities in sleep-wakefulness cycle of early infantile autism, the author discussed its pathophysiology focusing on its main lesion in the raphe nuclei. These neurons, located in the midline portion of the brainstem send their axons to various neurons of the upper and lower nervous systems, including the locus coeruleus and the dopamine neurons of the tegmentum, the former having a broad innervation and the latter a restricted area in the central nervous system. These monoaminergic neurons modulate the functions of the involved neurons and regulate their functional and structural maturation in the early developmental course. The early lesion of the raphe nuclei causes poor adaptation to environment which develops as abnormal circadian oscillation and pervasive lack of responsiveness. Combined hypofunction of the locus ceruleus, particularly of its dorsal bundle, results in the failure of extinction of acquired memory in mice which relates clinically to the excellent memory and resistance to change peculiar interests and attachments in humans. From early childhood, the disturbance of dopaminergic neurons becomes apparent clinically, and causes hyperkinesia and stereotyped activities. With the other two monoaminergic neurons, dopaminergic neurons cause occasional aggressiveness or self-mutilation. The latter behaviors are like those of pampered children and are simulated to "muricide" and "friendliness" observed in rats with these monoaminergic lesions. The particular language disturbance with echolalia is due to the right hemispheric dominance, which might have been caused by a delayed functional lateralization of the hemisphere resulting also from the delayed development of the circadian oscillation in infancy. The motor disturbances consisting of hypotonia and impaired locomotion might be due to decreased tonic innervations of the locus ceruleus and the raphe nuclei to the spinal locomotion center. CT examination of symptomatic autism showed the amygdala as one of the causative nuclei for the autistic behavior.
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PMID:[A neurologic model of early infantile autism]. 265 85

Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others. Considering the variability of the clinical symptoms, one autistic individual can be severely affected in communication while others can speak perfectly, sometimes having a vocabulary above average in early childhood. The same variability can be seen in other clinical symptoms, thus the "spectrum" can vary from severe to mild. Induced pluripotent stem cell technology has been used to model several neurological diseases, including syndromic and non-syndromic autism. We discuss how modeling the central nervous system cells in a dish may help to reach a better understanding of ASD pathology and variability, as well as personalize their treatment.
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PMID:Autism spectrum disorders and disease modeling using stem cells. 2891 4