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

Autism is a psychopathological disorder of childhood characterized by severe lapses in behaviour and cognition and excessive presence of extravagant unsuitable behaviour that affects a child's development. It is associated with different conditions of the Central Nervous System, especially a high incidence of epilepsy. We report a case of autistic syndrome with refractory temporal epilepsy, describing its clinical onset, (type of seizures, focal anomalies on the EEG, evidence of relation between limbic disfunction and autism.
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PMID:[Autistic syndrome associated with refractory temporal epilepsy]. 855 28

Trisomy 17 has never been reported in a live birth. We present a case of mosaic trisomy 17 in a male presenting with mental retardation, seizures, attention deficit hyperactivity and autistic disorders, hearing loss, growth retardation, microcephaly, and minor anomalies. Although peripheral blood lymphocyte chromosomes were normal, trisomy 17 was present in the skin fibroblasts. The percentage of abnormal cells appears to have increased from 18% in an initial skin biopsy at age 3 years 8 months to 80% at age 8 years 8 months. Molecular analysis using 13 highly polymorphic markers spanning the length of chromosome 17 demonstrated the extra chromosome 17 in the skin to be of paternal origin. Three alleles were never seen in the trisomic cell line, suggesting that the extra chromosome arose through a mitotic duplication error after conception. Uniparental disomy was excluded in the euploid blood sample. Although Smith-Magenis syndrome involves a deletion of proximal 17p, some of the clinical features of this mosaic trisomy 17 patient, such as decreased REM sleep and increased tolerance to pain, are suggestive of phenotypic features observed in Smith-Magenis syndrome. We speculate that there are dosage-sensitive genes located in 17p11.2 that produce these phenotypes for either deficiencies or over-expression of their gene products.
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PMID:A clinical and molecular study of mosaicism for trisomy 17. 855 63

An abnormal circadian pattern of melatonin was found in a group of young adults with an extreme autism syndrome. Although not out of phase, the serum melatonin levels differed from normal in amplitude and mesor. Marginal changes in diurnal rhythms of serum TSH and possibly prolactin were also recorded. Subjects with seizures tended to have an abnormal pattern of melatonin correlated with EEG changes. In others, a parallel was evidenced between thyroid function and impairment in verbal communication. There appears to be a tendency for various types of neuroendocrinological abnormalities in autistics, and melatonin, as well as possibly TSH and perhaps prolactin, could serve as biochemical variables of the biological parameters of the disease.
J Autism Dev Disord 1995 Dec
PMID:Brief report: circadian melatonin, thyroid-stimulating hormone, prolactin, and cortisol levels in serum of young adults with autism. 872 32

We report on two pre-adolescent boys with a combination of severe seizure disorders and severe-moderate autism who underwent brain surgery for their epilepsy at the ages of 9 and 10 years, respectively. Both boys became seizure-free and initially improved dramatically with regard to autism symptoms. One of the boys continued to improve, but the other had a relapse to his pre-operative state in conjunction with his pubertal growth spurt. Several years after surgery, one of the boys remained much improved with respect to his autism. The other subject showed some improvement with respect to self-injury and aggression, and had slightly lower scores on screens for autism symptoms than in the year preceding epilepsy surgery. The histopathological examination of the brain tissue that was removed at surgery suggested a diagnosis of tuberous sclerosis in both cases.
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PMID:Autism and epilepsy (and tuberous sclerosis?) in two pre-adolescent boys: neuropsychiatric aspects before and after epilepsy surgery. 893 61

The advantage of using sphenoidal (SE) over antero-temporal electrodes (ATE) remains controversial among epileptologists. Yet, in a recently published study of 17 patients with seizures of antero-temporal origin (Kanner et al., 1995), we demonstrated that SE placed under fluoroscopic guidance (FPSE), in order to insure that their recording tips are positioned immediately below the foramen ovale (FO), yielded a significant advantage over SE placed with the standard blind method of insertion (BPSE), in both interictal and ictal recordings. This study was done to test the following hypothesis: FPSE advantage over BPSE and ATE resides in the recording of epileptiform activity with a restricted electric field. We compared spike voltages at FPSE, BPSE and ATE in sets of 5 randomly selected spikes per interictal focus, recorded in the course of separate monitoring studies with BPSE and FPSE. We represented the voltage differences as ratios, VATE/FPSE and VATE/BPSE and calculated a mean ratio for each spike set. The spikes' voltage was almost identical at BPSE and at ATE (mean VATE/BPSE = 0.94), while it was significantly higher at FPSE than at ATE (mean VATE/FPSE = 0.66; P < 0.001, t test). A significantly narrower electric field contour was found among interictal foci in which FPSE yielded additional data during interictal (P < 0.001) and ictal (P = 0.016) recordings. Conversely, VATE/FPSE did not differ from VATE/BPSE among interictal foci where FPSE failed to yield any advantage over BPSE in either interictal (P = 0.240), or ictal (P = 0.311) recordings. These findings prove that SE yield additional localizing data when recording epileptiform activity with a restricted field, provided that its recording tip is positioned below the FO. When distant from FO, SE can be expected to yield comparable data to that obtained with ATE.
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PMID:When do sphenoidal electrodes yield additional data to that obtained with antero-temporal electrodes? 906 Aug 50

We report a patient with trichothiodystrophy associated with autism, mental retardation, and seizures. The diagnosis was based on the presence of brittle hair, with a marked decrease in sulfur-rich amino acid content, and characteristic features such as "tiger tail" under polarizing microscopy and trichoschisis under scanning electron microscopy. Macroscopic alterations were mostly observed in the frontal and occipital hair, with only microscopic abnormalities in the occipital hair. We consider this an unusual expression of this disease.
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PMID:A new case of trichothiodystrophy associated with autism, seizures, and mental retardation. 914 99

Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. The disease has variable clinical presentation involving psychomotor retardation, seizures, hypotonia, and autism. The presence of succinyladenosine and succinylaminoimidazole carboxamide riboside (SAICA riboside) in body fluids characterizes the biochemical phenotype. All cases of ASL deficiency described to date have been diagnosed in Europe. Using a high-resolution thin-layer chromatography (TLC) technique combining screening for ASL deficiency and disorders of saccharide metabolism, we found the first case of this disease in the US. The patient presented with delayed motor development and profound hypotonia. The family history and routine laboratory tests were negative. Screening for metabolic disorders detected the presence of succinyladenosine and SAICA riboside in urine. The activity of ASL in the patient's skin fibroblasts was 43% of controls (patient, mean = 1.20 nmol/min/mg of protein, s = 0.21, n = 3; controls, mean = 2.78 nmol/min/mig of protein, s = 0.61, n = 7). In a 15-month-old girl with profound hypotonia, we established the diagnosis of ASL deficiency by demonstrating succinyladenosine and SAICA riboside in urine and decreased residual activity of ASL in skin fibroblasts.
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PMID:First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. 916 20

Case histories of autistic twins with absence seizures are presented. The boys had autistic features prior to the onset of seizures during their second year of life. By age 3 years, the twins were significantly delayed in the areas of socialization, communications and impulse control. Typical autistic features were pronounced, including perseverative, nonpurposeful and self-stimulatory behaviors; lack of symbolic play; poor eye contact; echolalic and noncommunicative speech; and unresponsiveness to disciplinary efforts. The absence seizures, although first observed by the parents early in the twins' second year, were not diagnosed until age 3 years 1 month. The seizures consisted of 50-60 staring spells per day. Both boys responded to valproic acid treatment with control of their seizures and with a dramatically accelerated rate of acquisition of both language and social skills. A possible causal relationship between autism and absence seizures in these children is explored.
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PMID:Valproic acid treatment of epilepsy in autistic twins. 930 27

The purpose of this investigation was to determine the short-term efficacy and tolerability of clomipramine in a consecutive series of adults with pervasive developmental disorders (PDDs). Thirty-five adults with PDDs (DSM-IV), 16 of whom were nonverbal, entered a 12-week prospective open-label trial of clomipramine. The initial sample included 18 patients with autistic disorder, 6 patients with Asperger's disorder, and 11 patients with pervasive developmental disorder not otherwise specified (PDDNOS). Behavioral ratings were obtained at baseline and after 4, 8, and 12 weeks of clomipramine. Eighteen (55%) of the 33 patients who completed the trial were categorized as treatment responders based on scores of "much improved" or "very much improved" on the Clinical Global Impression (CGI) global improvement item (p < 0.001). Ten (63%) of 16 patients with autistic disorder, 2 (33%) of 6 patients with Asperger's disorder, and 6 (55%) of 11 patients with PDDNOS were considered responders to clomipramine treatment. In those 18 patients, clomipramine significantly reduced total repetitive thoughts and behavior (p < 0.001) and also aggression (p < 0.001), and improved some aspects of social relatedness, such as eye contact and verbal responsiveness (p < 0.001). Change in these specific symptom clusters over time was not related to DSM-IV subtype of PDD. The level of autistic behavior, as measured by the Autism Behavior Checklist (ABC) score, and full-scale intelligence quotient (IQ) were not significantly associated with global treatment response. Whereas clomipramine was well tolerated by most patients, 13 had clinically significant adverse effects. Three patients had seizures during clomipramine treatment, including 2 who had prior seizure disorders and were taking anticonvulsants. Of the 32 patients who had no history of prior seizures, only 1 had a seizure during clomipramine treatment. There were no adverse cardiovascular or extrapyramidal effects. All responders continued on clomipramine after completion of the study. The results of this open-label trial suggest that clomipramine may be an effective drug for reducing repetitive thoughts and actions and aggressive behavior and for improving some elements of social behavior, such as eye contact and verbal responsivity in adults with PDDs. Careful monitoring of adverse effects, particularly seizures, is warranted. Although an electroencephalogram (EEG) is not mandatory in patients with PDD prior to clomipramine treatment, we recommend that patients with PDD and a history of seizures be treated initially with a selective serotonin uptake inhibitor rather than with clomipramine. The findings of this study require replication in a double-blind placebo-controlled investigation before definitive statements of efficacy and tolerability can be made.
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PMID:Clomipramine in adults with pervasive developmental disorders: a prospective open-label investigation. 933 96

Rett syndrome (RS) is one of the most frequent causes of mental retardation in females. As there are no known biochemical, genetic, or morphological markers, diagnosis is based on clinical phenotype including severe dementia, autism, truncal ataxia/apraxia, loss of purposeful hand movements, breathing abnormalities, stereotypies, seizures, and extrapyramidal signs. Myoclonus, although reported in some series, has never been characterized. We studied 10 RS patients, age 3 to 20 years, and observed myoclonus in 9. Severity of myoclonus did not correlate with that of the other symptoms or with age. Multifocal, arrhythmic, and asynchronous jerks mainly involved distal limbs. Electromyographic bursts lasted 48 +/- 12 msec. Burst-locked electroencephalographic averaging generated a contralateral centroparietal premyoclonus transient preceding the burst by 34 +/- 7.2 msec. Motor evoked potentials showed normal latencies, indicating integrity of the corticospinal pathway. Somatosensory evoked potentials were enlarged. The C-reflex was hyperexcitable and markedly prolonged (62 +/- 4.3 msec), mainly due to increase in cortical relay time (28.4 +/- 4.5 msec). We conclude that RS patients show a distinctive pattern of cortical reflex myoclonus with prolonged intracortical delay of the long-loop reflex.
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PMID:Cortical reflex myoclonus in Rett syndrome. 954 28


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