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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Children with autism demonstrate "atypical" gaze or social "looking" and frequently manifest such sterotypies as eye pressing, hand flicking, and light gazing. This study's purpose was to evaluate autistic children for visual dysfunction that may be related to the manifested visual signs and symptoms. Thirty-four autistic children, ages 2 to 11 years (median age = 7 years, 6 months) were evaluated for ocular alignment, refractive error, visual acuity, oculomotility skills, and stereopsis. None of the children manifested ocular disease, known seizure disorders, or dysmorphic features. Their developmental levels ranged from average intelligence to severely retarded. Binocular visual acuity was measured with the acuity card procedure. Monocular visual acuity was not obtained. Refractive errors ranged from -4.25 to +3.25 D; the median was plano with the near retinoscopy technique. Of the 34 children, 21% were strabismic at far and 18% were strabismic at near. Lang stereo testing was attempted on all children and completed on 17. Of the 17, all but 3 exhibited 550 sec arc. Only 14.7% of the children exhibited voluntary pursuit movements, and all the children demonstrated saccadic fixations. Thirty-one children had atypical optokinetic nystagmus (OKN) responses such as delayed onset, short duration, gaze avoidance, or stereotypic behavior. Repeated testing revealed consistent visual responses on OKN and visual acuity. Given these findings, research with this population should be pursued further.
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PMID:Assessment of visual function in autistic children. 164 Dec 24

We report the case of a boy whose development was normal until the age of three when regression with loss of speech occurred. Other anomalies included eating and sleep disorders, sterotyped behavior disorders, suggesting infantile psychosis. The electroencephalogram evidenced paroxysmal anomalies, particularly during sleep, with no clinical seizures. The diagnosis of epilepsia-acquired aphasia syndrome (Landau-Kleffner syndrome) was made. The psychotic disorders were not considered as a differential diagnosis but rather as intertwined with the elements of the syndrome. The relationship between acquired aphasia and psychosis are discussed.
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PMID:[Epilepsy-acquired aphasia syndrome with psychosis. Report of a case ]. 169 43

Autism is one of the behaviorally defined developmental disorders of brain function. It has a variety of genetic and nongenetic etiologies, with etiology being unknown in the majority of children. Boys are more frequently affected than girls. Manifest in the preschool years, autism always affects sociability, communication, and the child's repertoire of activities and interests. Autism encompasses children with a broad range of severities and a variety of other signs of brain dysfunction. These include motor signs, notably stereotypies; abnormal responses to a variety of sensory stimuli; and disorders of affect and attention. A significant proportion of autistic children experience epileptic seizures and have abnormal EEGs. Neuroimaging, preferably magnetic resonance imaging, discloses abnormalities of brain development in a minority of autistic persons. The level of intelligence may range from profound mental deficiency to giftedness. The pattern of cognitive skills is likely to be uneven, typically with better nonverbal than verbal skills. In the preschool years, all autistic children have a developmental language disorder. Verbal expression may range from total lack of language to verbosity with echolalia; comprehension and language use are invariably impaired. While there is no specific pharmacologic agent to mitigate the fundamental disorder, children may benefit from drugs to treat specific symptoms such as attention disorder and seizures. Although autistic behaviors are the consequence of a static disorder of brain function, their character changes with maturation and appropriate intervention. Communication skills and sociability remain deficient but improve in all but the most severely affected children. Outcome is a function of both innate cognitive competence and the effectiveness of early intervention focused on the development of appropriate social skills and meaningful communication. Intelligent autistic adults may be educable, employable, and able to live independently, while more severely handicapped ones require a lifelong protected environment.
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PMID:Autistic children: diagnosis and clinical features. 170 91

A long-term follow-up study of 42 patients with West syndrome treated with high doses of sodium valproate is presented. Control of the hypsarrhythmic EEG pattern was achieved after two weeks for over three-quarters of the patients with sodium valproate doses of 100 to 300mg/kg/day. Recurrence of hypsarrhythmia was observed most often in patients treated with doses lower than 200mg/kg/day. Other types of seizures appeared in half of the patients followed beyond two years of age. Monotherapy throughout follow-up was possible for 30 patients. Autism occurred in only one infant, and 12 achieved normal mental status. The most common side-effects were asymptomatic thrombocytopenia, vomiting and mild somnolence. Hepatic enzymes were not altered.
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PMID:Infantile spasms treated with high doses of sodium valproate: initial response and follow-up. 187 25

Three patients with hyponatremia were found at an residential home of mental developmental delay. Because pimozide had been administered to all of them, it was suggested that pimozide might have induced compulsive water drinking resulting in hyponatremia. To my knowledge, there has been no previous report that pimozide may induce hyponatremia. As children with mental developmental delay and/or autism frequently develop epilepsy, hyponatremia should be included in the differential diagnosis of convulsive seizures. Particularly when antipsychotic drugs such as pimozide have been given, we should pay attention to polydipsia, polyuria and/or general malaise and prevent hyponatremia.
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PMID:[Three cases of hyponatremia during administration of pimozide]. 193 Nov 69

Autism is associated with epilepsy. One third of the population of people with autism have developed seizures in early adult life. In spite of this well-known association, little is known about the treatment of epilepsy in autism. This paper reviews the sparse literature and reports a systematic case-record study of the treatment of epilepsy in autism. Some practical guidelines for clinicians are provided. Research in the field of epilepsy in autism is highly warranted.
J Autism Dev Disord 1991 Mar
PMID:The treatment of epilepsy in autism. 203 50

The set of features that constitute 'autism' has been traced to numerous etiologies. Certain autistic features have been localized to dysfunction in certain neural areas, most notably frontal and temporal regions. The author hypothesizes that many of the symptoms characteristic of autism fit the clinical picture of frontal lobe seizures. Facial, vocal, and other body movements in autism are catalogued in parallel with facial, vocal and body movements that occur during frontal lobe seizures. The variety of etiologies that cause frontal lobe seizures also accounts for the variety of etiologies traced to autism.
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PMID:Frontal lobe seizures in autism. 204 94

Many conditions in clinical neurology may be responsive to pyridoxine as a therapeutic agent. The current difficulty is in trying to isolate the conditions that are most likely to respond. Treating seizures is a major part of a neurologic practice. Our current therapeutic agents are only partially successful and limited by multiple side effects. One problem is that patients often have to take these agents for an entire lifetime, further raising the risk of toxicity. If pyridoxine supplementation can improve the efficacy of currently used medications, it will be gladly accepted into our therapeutic arsenal. Headache, chronic pain, and depression all appear to run together in many of our patients. The observations that serotonin deficiency is a common thread between them and that pyridoxine can raise serotonin levels open a wide range of therapeutic options. Small studies have been carried out with mixed success. Comparison with amitriptyline in the treatment of headache appears to show about equal efficacy, although side effects would be expected to be more of a problem with the amitriptyline. Behavioral disorders are relatively common and continue to be a major problem, disrupting the lives of the patients and their families. Current treatments are not acceptable to most people because of the risk of side effects with long-term usage. If, as Dr. Feingold suggests, many of these problems are caused by "toxic" exposures to chemicals that are pyridoxine antagonists, supplementation at early ages may reduce the incidence of hyperactivity and aggressive behavior. This raises the question of safety. Is pyridoxine safe for long-term use in large segments of the population, including children? The studies on children with Down's syndrome and autism, utilizing much higher doses than are used for other therapeutic purposes, seem to indicate relative safety if carefully monitored. Studies involving large population groups with carpal tunnel syndrome, all adults, using 100-150 mg/day have shown minimal or no toxicity in five- to 10-year studies. Women self-medicating for PMS taking 500 to 5000 mg/day have shown peripheral neuropathy within one to three years. It would appear from this retrospective analysis that pyridoxine is safe at doses of 100 mg/day or less in adults. In children there is not enough data to make any sort of suggestion. Because the major neurologic complication is a peripheral neuropathy and the causes of this condition are myriad, pyridoxine may cause neuropathy only in patients with a pre-existing susceptibility to this condition.
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PMID:Vitamin B6 in clinical neurology. 216 44

Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.
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PMID:Rett syndrome: case reports and review. 218 54

Twelve rare diseases known to cause CNS pathology were found in 26 (11%) of 233 autistic probands identified during a recent epidemiologic survey of Utah. These 26 probands had significantly lower mean IQs than the remaining patients (43 versus 60) but similar sex distribution and prevalence of abnormal EEGs and seizures. The rarity and diversity of these 12 diseases make it highly unlikely that they randomly occurred with autism. Their presence in this epidemiologic survey is the most compelling evidence to date to support the hypothesis that different diseases producing different types of CNS pathology can play an etiologic role in autism.
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PMID:The UCLA-University of Utah epidemiologic survey of autism: the etiologic role of rare diseases. 192 2


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