Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cytogenetic examination of a 14-year-old severely retarded girl revealed a karyotype of 47 chromosomes with an extra bisatellited chromosome, a translocation between No. 22 and a chromosome in the D group. The girl had presented an early autistic syndrome beginning about 6 months of age during plastering for a congenital luxation of the hips and receding from the age of 5. In addition, she was hyperkinetic with various aggressive and auto-aggressive traits and had atypical minor epileptic fits. Data from child psychiatric examinations at 5 and 14 years are presented. The importance of giving parents information as early as possible about biological causes of mental retardation and mental illness is stressed.
J Autism Child Schizophr 1977 Sep
PMID:A case report of an autistic girl with an extra bisatellited marker chromosome. 57 14

Magnesium has a profound effect on neural excitability; the most characteristic signs and symptoms of Mg deficiency are produced by neural and neuromuscular hyperexcitability. These create a constellation of clinical findings termed tetany syndrome (TS). TS symptoms include muscle spasms, cramps and hyperarousal, hyperventilation and asthenia. Physical signs (Chvostek's, Trousseau's or von Bonsdorff's) and abnormalities of the electromyogram or electroencephalogram can usually be elicited. Signs and symptoms of TS are frequently encountered in clinical practice, especially among patients with functional or stress-related disorders. The role of Mg deficit in TS is suggested by relatively low levels of serum or erythrocyte Mg and by the clinical response to oral Mg salts, which has been demonstrated in controlled studies. Among the more serious neurologic sequelae of TS are migraine attacks, transient ischemic attacks, sensorineural hearing loss and convulsions. Mg deficiency may predispose to hyperventilation and may sensitize the cerebral vasculature to the effects of hypocarbia. Mg deficiency increases susceptibility to the physiologic damage produced by stress, and Mg administration has a protective effect; studies on noise stress and noise-induced hearing loss are taken as an example. In addition, the adrenergic effects of psychological stress induce a shift of Mg from the intracellular to the extracellular space, increasing urinary excretion and eventually depleting body stores. Drugs used in neurology and psychiatry may affect Mg levels in blood and may diminish signs of tetany, making assessment of Mg status more difficult. Pharmacologic use of Mg can decrease neurologic deficit in experimental head trauma, possibly by blockade of N-methyl-D-aspartate receptors. In conjunction with high doses of pyridoxine, Mg salts benefit 40% of patients with autism, possibly by an effect on dopamine metabolism.
 ...
PMID:Magnesium, stress and neuropsychiatric disorders. 184 61

Magnetic resonance imaging (MRI) was performed in 270 patients with various neurologic complaints (1-15 Y) with a 0.5 tesla superconducting imaging system (MRT-50 A, Toshiba Co.) using a field echo sequence (TR/TE: 300 ms/14 ms) and a spine echo sequence (TR/TE: 2,000 ms/100 ms or 2,000 ms/120 ms, and 2,000 ms/30 ms). The slice thickness was 10 mm. Hyperintensity areas on T2-weighted images were noted at the occipital lobe in 33 patients (12.2%). Twenty-seven of them had hyperintensity within the deep white matter, which revealed iso- or hypointensity on T1-weighted images. The diagnosis for the 27 patients included medulloblastoma after multidisciplinary therapy (1), congenital heart disease (1), neurofibromatosis (1), tuberous sclerosis (1), congenital muscular dystrophy (1), congenital myotonic dystrophy (2), febrile convulsion (2), autism (3), epilepsy (9) and unknown causes (6). Because the hyperintensity areas are age-dependent, they may result from delayed myelination in the central nervous system.
 ...
PMID:[Deep white matter hyperintensity in occipital lobe on T2 weighted magnetic resonance imaging]. 193 Nov 65

Asperger's syndrome is an autistic-like disorder, probably neuropsychiatric in character, which fits with DSM-III criteria for Atypical Pervasive Development Disorder. Because the abnormality is less pervasive than Autistic Disorder, it may be misdiagnosed as Personality Disorder in the adolescent, and the author presents an illustrative case in this respect. The condition is sometimes associated with Tourette's Syndrome, though not in this particular patient. Treatment remains speculative.
 ...
PMID:A possible case of Asperger's syndrome. 369 Apr 75

The main objectives of this study were to characterize the selected variables for a better understanding and diagnosis of infantile autism such as clinical and image findings, diagnostic criteria, frequency of neuropsychiatric disorders in the subjects' families, familial recurrence and occurrence of consangunity between the subjects' parents and between other couples in the family. The sample was composed of 36 subjects of both sexes, in the age group from 1 though 20 years old, members of 35 distinctive families, all of which presenting clinical diagnosis for infantile autism. Mental retardation was clinically observed in all subjects of the sample and convulsion in 27.8%; neuropsychiatric disorders were referred in at least one family member of the subjects (97.14% of the families); recurrent autism in 11.42% grandparents and great-grand-parents (2.86%); abnormal findings in computed tomography scan were observed in three subjects. These results support the suggestion of the multifactorial heredity model with differential threshold fold sex in infantile autism. The clinical evaluation of all infantile autism cases should always appraise the neurological, psychiatric and genetic features.
 ...
PMID:[Genetic and clinical diagnosis of infantile autism]. 968 16

It is widely acknowledged that, to date, the forms of treatment enjoying the broadest empirical validation for effectiveness with individuals with autism are those treatments based upon a behavioral model and that such treatments are best implemented intensively and early in the child's development. This paper describes several features important in the success of this model and presents remaining issues to be addressed for improving treatment effectiveness. While it is appreciated that there is no "one size fits all" treatment for children with autism, there is as yet no established protocol for relating specific child, family, target behavior, and treatment variables to individualized treatment regimens. Future research needs to include well-conceived and methodologically rigorous investigations allowing for the determination of these important variables.
J Autism Dev Disord 2000 Oct
PMID:Intensive behavioral/psychoeducational treatments for autism: research needs and future directions. 1109 71

Vaccinations protect to a high degree against infectious diseases, but may cause side effects. In the Netherlands since 1962 the adverse events following immunizations are registered and analysed by the National Institute of Health and Environment (RIVM). Since 1983 a permanent Committee of the Dutch Health Council reviews adverse events reported to the RIVM. With the so-called killed vaccines the side effects are mainly local (redness, swelling, pain) or general (fever, listlessness, irritability, sleep and eating problems). They are seen mainly after DPT-IPV vaccination against diphtheria, pertussis, tetanus and poliomyelitis. Some side effects occur rarely (collapse reactions, discoloured legs, persistent screaming and convulsions) and very rarely serious neurological events are reported. After MMR vaccination against measles, mumps and rubella, cases of arthritis, thrombocytopenia and ataxia are reported sporadically. Usually, they have a spontaneous recovery. During recent years a scala of diseases or symptoms have been associated with vaccination (presumed side effects). Careful and extensive investigations have shown that such hypotheses could not be supported. Examples are allergic diseases as asthma, diabetes mellitus, multiple sclerosis (after hepatitis B vaccination), autism and inflammatory bowel disease (after MMR vaccination) and sudden infant death syndrome. The total number of cases where at least a possible relation between side effects and vaccination is observed--apart from local reactions and moderate general symptoms--is very rare (about 0.25 per 1000 vaccinations) and does not balance the benefits from vaccination. There appears increasing doubt about the use and safety of vaccinations. More research is needed about the motives of people to choose for and against vaccination. The education about vaccination for parents and professionals who are involved with vaccination has to be improved. Internet can play an important role.
 ...
PMID:[Childhood vaccinations anno 2004. II. The real and presumed side effects of vaccination]. 1503 89

The Nisonger Child Behavior Rating Form (NCBRF) is a behavior rating scale designed for children and adolescents with mental retardation. The purpose of this study was to explore the psychometric properties of the NCBRF in a sample of 330 children and adolescents with autism spectrum disorders (ASDs). Parent and teacher ratings were independently submitted to both exploratory and confirmatory factor analysis. As reported with the original validation study, parent and teacher versions shared similar but somewhat different factor structures. Social competence items showed more similarity with the original solutions than did problem behavior items. Problem behavior items were distributed into a somewhat simpler five-factor solution for both rating forms. Self-injurious and stereotypic items loaded on two distinct subscales for the teacher form, but not on the parent form. Factor loadings and internal consistencies were generally lower than those reported for the original versions but still within the acceptable range. Confirmatory factor analyses indicated good fits for the social competence items and acceptable fits for the problem behavior items. Overall, results supported the construct validity of the NCBRF in children and adolescents with ASDs.
J Autism Dev Disord 2004 Dec
PMID:Factor analysis of the Nisonger Child Behavior Rating Form in children with autism spectrum disorders. 1567 90

Elevated free fatty acid (FA) levels lead to insulin resistance, hypertension, and microangiopathy, all of which are associated with type 2 diabetes. On the other hand, deficiencies of FA are indicative of certain neurodegenerative diseases, including autism. Thus, free FA levels are a diagnostic indicator for a variety of disorders. Here we describe the use of a commercially available FA binding protein labeled with acrylodan (ADIFAB), which we modified with a ruthenium metal-ligand complex with the intention of creating a low-cost FA sensor. The dual-labeled FA binding protein was used in lifetime-assisted ratiometric sensing (LARS) of oleic acid. For both steady-state and time-resolved luminescence decay experiments, the protein is responsive to oleic acid in the range of 0.02-4.7 microM. The emission at 432 nm, which is associated with the acrylodan occupying the FA binding site, decreases in intensity and red shifts to 505 nm on the addition of oleic acid. The intensities of the 505-nm peak due to the acrylodan displaced from the binding site by FA and of the 610-nm emission peak of ruthenium remained nearly unchanged. Fitting of the fluorescence decay data using the method of least squares revealed three emitting components with lifetimes of approximately 0.60, 4.00, and 370 ns. Fractional intensities of the emitting species indicate that changes in modulation between 2 and 10 MHz on binding of the protein with oleic acid are due mainly to the 4.00-ns component. The 0.60- and 370-ns components are assigned to acrylodan (505 nm) and ruthenium, respectively. Note that because ruthenium has a lifetime that is two orders of magnitude longer than that of acrylodan, the FA measurements were carried out at excitation frequencies lower than what can be done with acrylodan alone. Thus, low-cost instrumentation can be designed for a practical FA sensor without sacrificing the quality of measurements.
 ...
PMID:Fatty acid sensor for low-cost lifetime-assisted ratiometric sensing using a fluorescent fatty acid binding protein. 1613 30

Most autism has a genetic cause although post-encephalitis cases are reported. In a case-series (N = 20) from Tanzania, 14 met research criteria for autism. Three (M:F = 1:2) had normal development to age 22, 35, and 42 months, with onset of autism upon recovery from severe malaria, attended by prolonged high fever, convulsions, and in one case prolonged loss of consciousness. In four other cases (M:F = 3:1), the temporal relationship between onset of autism and severe infection was close, but possibly spurious since malaria is common in Tanzania and there were indications of abnormal development in the child or a family member. In seven cases, (M:F = 6:1) autism onset was unrelated to malaria. The excess of non-verbal cases (N = 10) is related local diagnostic practice.
J Autism Dev Disord 2006 Nov
PMID:Etiologies of autism in a case-series from Tanzania. 1689 90


1 2 3 4 5 6 7 Next >>