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

This case report describes a set of monozygotic twins with severe intellectual disability, autism and affective disorder with a balanced translocation between chromosomes 4 and 12. Their mother, who carries the same balanced translocation, had severe postnatal depression. The association between autism affective disorder and these chromosome break points has not been reported previously. The implications are discussed.
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PMID:Association of a balanced chromosomal translocation (4; 12)(q21.3; q15), affective disorder and autism. 1089 81

Although the core features of autism do not change qualitatively, a gradual overall symptomatic improvement including an increase in adaptive skills is observed in most cases with age. Follow-up studies show that the diagnostic features, the differential diagnosis, and clinical problems of adult autistics differ substantially from that of autistic children. The differential diagnosis of older autistics include personality disorders, learning disabilities, and mood disorder. Depression, epilepsy, and behavioral problems such as aggression and agitation may be major clinical problems during adolescence. The early indicators of a better outcome include a higher level of IQ and language. Among the neuropsychological variables, measures of flexibility and cognitive shift are important as prognostic factors. Early behavioral and educational intervention may especially increase the adaptive skills of the patients and promote the in-family communication. The outcome studies of autism are particularly helpful in addressing the appropriate and most effective programs of remediation for adult autistics.
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PMID:Infantile autism: adult outcome. 1129 Oct 11

Antiepileptic drugs are widely administered to individuals with autistic spectrum disorders. There are several reasons for the use of antiepileptic drugs in autistic spectrum disorders, including the high incidence of epilepsy in these individuals, the anecdotal reports suggesting an improvement of communication and behavior in autistic subjects with epileptic discharges, and the increased awareness that some disruptive behaviors may be manifestations of an associated affective disorder. In this study, data on the current use of antiepileptic drugs in the treatment of autism, and on the association of affective disorders with epilepsy and autism, are reviewed. The evidence supporting the hypothesis that there may be a subgroup of autistic children with epilepsy and affective disorders that preferentially respond to antiepileptic drugs is still very preliminary, and further investigations with double-blind controlled studies are needed. Although the role of antiepileptic drugs at the present time is not established, there is evidence that autism, epilepsy, and affective disorders commonly co-occur, and that they may share a common neurochemical substrate, which is the common target of the psychotropic mechanism of action of different antiepileptic drugs.
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PMID:Antiepileptic drugs: affective use in autism spectrum disorders. 1158 73

An adult female with congenital Rubinstein-Taybi syndrome (RTS) and severe mental retardation is described, who presented with symptoms of severe over-activity, short attention span, mood lability, and aggressive outbursts in a cyclical pattern, suggestive of recurrent manic-like episodes. These symptoms improved significantly with divalproex (Depakote) monotherapy. Review of the existing studies showed that 10-76% of persons with RTS may be identified with similar behavioral symptoms. We postulate other persons with RTS may respond to divalproex, and there may be some relationship between the chromosome 16p13.3 deletion and gamma-aminobutyric acid (GABA) receptor or neurotransmitter abnormalities. Recent molecular genetic studies suggest a linkage of this region to bipolar mood disorder and autism, both of which were diagnosed in this patient. Further prospective study is needed of RTS persons regarding behavioral problems, comorbid psychiatric diagnoses, and treatment responses, correlated with genetic abnormalities.
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PMID:Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study. 1185 81

One hundred and twenty-nine children, 2 to 8 years old, with idiopathic autistic spectrum disorder diagnosed by standard instruments (Childhood Austim Ratings Scale and Autism Diagnostic Observation Schedule) were treated with fluoxetine (0.15 to 0.5mg/kg) for 5 to 76 months (mean 32 to 36 months), with discontinuation trials. Response criteria are described. Family histories were obtained using the family history method in repeated interviews. Fluoxetine response, family history of major affective disorder, and unusual intellectual achievement, pretreatment language, and hyperlexia were used to define a coherent subgroup of autistic spectrum disorder. Statistical analyses were post hoc. Of the children, 22 (17%) had an excellent response, 67 (52%) good, and 40 (31%) fair/poor. Treatment age did not correlate with response. Fluoxetine response correlated robustly with familial major affective disorder and unusual intellectual achievement, and with hyperlexia in the child. Family history of bipolar disorder and of unusual intellectual achievement correlated strongly. Five children developed bipolar disorder during follow-up. Fluoxetine response, family history of major affective disorder (especially bipolar), unusual achievement, and hyperlexia in the children appear to define a homogeneous autistic subgroup. Bipolar disorder, unusual intellectual achievement, and autistic spectrum disorders cluster strongly in families and may share genetic determinants.
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PMID:Fluoxetine response in children with autistic spectrum disorders: correlation with familial major affective disorder and intellectual achievement. 1272 53

Although a growing body of evidence supports the hypothesis that exposure to obstetric complications (OCs) increases the vulnerability for schizophrenia, some questions remain unanswered regarding the diagnostic specificity and the etiological significance of this association. Associations with a history of OCs have been reported for other severe psychiatric disorders, such as autism, anorexia nervosa, or psychotic affective disorder. Thus, OCs may increase in a relatively non-specific way the vulnerability for a range of severe mental disorders, the expression of this vulnerability depending on the interaction between OCs and other risk factors, such as the genetic liability for specific psychiatric disorder, or exposure to later environmental risk factors. The causal pathway between OCs, maternal psychopathology, and psychotic outcome in the offspring is not fully elucidated. The directions of the associations are often bi-directional, and the mediating variables, if any, are not clearly identified. OCs may have a direct negative impact on fetal brain development, may be on the causal pathway between prepartum maternal depression/exposure to stress and increased risk of schizophrenia, or may indirectly increase the risk of child's later psychiatric disorder by acting as risk factors for maternal postpartum depression. The links and possible interactions between somatic perinatal risk factors and maternal psychopathology in the association with offspring's increased vulnerability for psychosis have to be further explored.
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PMID:Perinatal risk factors for schizophrenia: diagnostic specificity and relationships with maternal psychopathology. 1245 83

In a prospective long-term outcome study of a representative sample of teenage-onset anorexia nervosa (AN), 51 individuals with AN, recruited after community screening, were contrasted with 51 matched comparison cases at a mean age of 24 years (10 years after AN onset). All 102 cases had been examined at age 16 and 21 years. At 24 years all probands were interviewed regarding mental and physical health, and overall outcome was assessed. Ten-year outcome of teenage-onset AN seemed to be relatively favourable in that half of all cases were free from eating disorder (ED) and other axis I disorder. There were no deaths. However, one in four in the AN group had a persisting ED, 3 of whom still had AN. Lifetime diagnoses of affective disorders and obsessive-compulsive disorder (OCD) were overrepresented in the AN group. Affective disorders coincided with the ED, and were not a problem after recovery from the ED. On the other hand, OCD, OCPD (obsessive-compulsive personality disorder), and/or autism spectrum disorder continued to characterise more than one-third of the AN cases. One in six of the AN group had persistent problems with social interaction and obsessive compulsive behaviours from childhood into early adult years. Half the AN group had a poor overall outcome. These were subjects with either persisting ED or lifelong problems with social interaction and obsessive compulsive behaviour.
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PMID:Outcome of teenage-onset anorexia nervosa in a Swedish community-based sample. 1256 19

Child and adolescent catatonia has been poorly investigated. A literature review was undertaken to clarify phenomenology, diagnosis, etiology, and treatment as well as ethical problems of catatonia in childhood and adolescence. Although there are no accepted standardized criteria for catatonia in childhood and adolescence, catatonic features described by child psychiatrists are similar to Diagnostic and Statistical Manual of Mental Disorders (4th edn; DSM-IV) criteria for catatonia. With respect to etiology, the motor and behavioral symptoms that are part of catatonia bear some similarities with those seen in autism. Several case reports suggest an association between catatonia and general medical conditions. Certain drugs abused by youngsters as well as prescribed medicine can induce catatonia. Regarding catatonic cases originally diagnosed as schizophrenia, it is unclear whether all of these cases should be identified as schizophrenia or whether some of them are pervasive developmental disorders that develop psychic features in adolescence. Environmental changes preceding the onset of catatonia in patients with mood disorder play a possibly important role. Examples that suggest stress-induced catatonia, although rare, also exist. A few patients exhibit features of malignant catatonia, some without taking neuroleptics and others having taken them. Benzodiazepines and electroconvulsive therapy are considered to be effective treatments for catatonic youngsters.
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PMID:Catatonia in childhood and adolescence. 1266 58

Current models on the etiology of psychiatric disorders support the idea of a biologic cause as well as interactions of biologic systems with the environment. The elucidation of the genetic etiology is of paramount importance to understand the cause of psychiatric disorders. Human chromosome 18 was identified as one of the first chromosomes to be aberrant in psychiatric patients and has subsequently served as a model to identify the molecular cause. In this article I review a multitude of methodologies that can be used in determining the genetic basis of schizophrenia, affective disorder and autism associated with human chromosome 18. These strategies include the use of chromosome aberrations, linkage and association studies, mouse-human comparative genomics, mutation analysis on candidate genes, trinucleotide repeat expansion studies, search for genes demonstrating parental effects and bioinformatics. Current data from the use of these methods are cited from the literature. Linkage and association studies have suggested at least 2 candidate loci on the short and long arms of chromosome 18 for each of these psychiatric disorders. Some loci are supported by the mapping of chromosome aberrations from psychiatric patients. Mutation analyses of psychiatric patients with 4 candidate genes (NEDD4L, IMPA2, PACAP and GNAL) mapping within these loci have been unsuccessful, although an association was found with the IMPA2 gene in patients with schizophrenia. With these methods and findings, our understanding of the cause of psychiatric disorders associated with human chromosome 18 has improved and will advance, especially with emerging data from the human and rodent genome projects.
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PMID:Genetic analysis of psychiatric disorders associated with human chromosome 18. 1469 Mar 3

Family history studies of autism consistently reveal a large subgroup with a high incidence of major mood disorder in family members, suggesting the two entities are related clinically and genetically. This review examines this concept, comparing current clinlical and biological knowledge of autism and major mood disorder, and advances the hypothesis that this subgroup of autism represents an early-life phenotype of major mood disorder. If confirmed, this hypothesis would suggest that the basic biological defects determining major mood disorders may have prominent neurodevelopmental and cognitive dimensions. Testing of the hypothesis will depend on genetic studies.
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PMID:Autism and familial major mood disorder: are they related? 1526 Mar 72


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