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

To probe the specificity of traits that might be conceptualised as the broader phenotype of autism, parents of subjects with autism from simplex and multiplex families as well as parents of subjects with obsessive-compulsive disorders (OCD), early onset schizophrenia (EOS) and mental retardation (MR) were assessed using the Personality Style and Disorder Inventory and the Symptom Checklist-90-Revised. Autism parents' scores were increased on several subscales (e.g. reserved/schizoid, depression) compared to parents of subjects with OCD, EOS and normative data, but not in comparison to MR parents. Results provide some support for the specificity of the broader phenotype of autism. The burden of raising severely disabled children could not be ruled out as a factor influencing parts of this phenotype.
J Autism Dev Disord 2007 Feb
PMID:A case-control study of personality style and psychopathology in parents of subjects with autism. 1689 83

The early literature established the validity of the distinction between early onset schizophrenia and autism. In the modern context of increasing recognition of pervasive developmental disorders (PDD) and a growing interest in very early onset schizophrenia and other childhood onset psychoses, this clinical distinction is often difficult to make. This article looks at problems arising from overdiagnosing psychosis in those with PDD. Four case examples of misattributed diagnosis of psychosis are described. The features that were mistaken for psychotic phenomena are described and explained and successfully treated in the context of a diagnosis of PDD. The article describes problems of reliability of ascertaining subjective mental phenomena and the range of mental phenomena that need to be recognized in PDD. The overlap of abnormal perceptions and cognitions in both these conditions is described with reference to the literature. It is evident that more needs to be done to improve diagnostic reliability of psychosis in PDD, by improving clinical awareness and research tools.
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PMID:'All that glitters is not gold': misdiagnosis of psychosis in pervasive developmental disorders--a case series. 1809 36

Searching for a peripheral biological marker for schizophrenia, we previously reported on elevated mitochondrial complex I 75-kDa subunit mRNA-blood concentrations in early onset schizophrenia (EOS). The aim of this study was to further evaluate the utility of this gene as a potential marker for schizophrenia. Both-schizophrenia and autism-are suggested to be neuronal maldevelopmental disorders with reports of mitochondrial dysfunction and increased oxidative stress. Therefore we have investigated the expression levels of mitochondrial complex I 75-kDa subunit mRNA in whole blood of children with autistic spectrum disorder (ASD) and a group of adolescent acute first-episode EOS patients in comparison to matched controls. We have found that compared to the respective controls only the group of EOS patients-and not the ASD group-showed a significantly altered expression of the complex I 75-kDa subunit mRNA. Although further studies are necessary to test for the specificity of this marker, our findings point to the potential use of the mitochondrial complex I as a biomarker for schizophrenia.
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PMID:Expression analyses of the mitochondrial complex I 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: increased levels as a potential biomarker for early onset schizophrenia. 1989 76

Childhood disintegrative disorder (CDD), early onset schizophrenia (EOS), and late onset autism (LOA) often follow a similar course: initially, development is normal, then there is a sudden neuropsychiatric deterioration of social interaction and communication skills, which is combined with a decline in intelligence and reduction in daily activities. A 9-year-old boy was admitted to the paediatric ward with acute onset of secondary epileptic seizures. It was not long until the boy's symptoms resembled that of patients with cdd, eos and loa. Intensive tests led to the diagnosis of anti-NMDA-receptor encephalitis. Anti-NMDA-receptor encephalitis should be regarded as a possible organic cause underlying the syndromal presentation of CDD, EOS and LOA.
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PMID:[Anti-NMDA-receptor encephalitis: a new axis-III disorder in the differential diagnosis of childhood disintegrative disorder, early onset schizophrenia and late onset autism]. 2258 63

Asperger's syndrome (AS), a pervasive developmental disorder (PDD), has nowadays been widely advocated in media. Therefore, psychiatrists treating adolescents frequently meet patients as well as their families reporting of symptoms resembling those of Asperger's syndrome. It is known that symptoms of Asperger's syndrome have some overlap with those of schizophrenia, but less is known about comorbidity between these two syndromes. We describe a sample of 18 adolescents with early onset schizophrenia. Diagnosis of schizophrenia was based on assessment with Kiddie Schedule for Affective Disorders and Schizophrenia. The diagnostic interview for Social and Communication Disorders version 11 was used to assess autism spectrum disorders. Ten adolescents fulfilled symptom criteria of Asperger's syndrome after the onset of schizophrenia, while only two persons had Asperger's syndrome before the onset of schizophrenia, a prerequisite for diagnosis. 44% of the adolescents fulfilled the diagnosis of some PDD in childhood. Most of them were, however, unrecognized before the onset of schizophrenia. On the other hand, all 18 patients had one or more symptoms of PDDS in adolescence. Adolescents with schizophrenia have often symptoms consistent with AS, although only few of them have fulfilled the diagnostic criteria in their childhood, a prerequisite for the diagnosis of AS. There is a risk for misdiagnosis of adolescents with autistic symptoms if detailed longitudinal anamnesis is not obtained.
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PMID:The relationship between Asperger's syndrome and schizophrenia in adolescence. 2306 28

CNVs spanning the 2p16.3 (NRXN1) and the 15q11.2 gene rich region have been associated with severe neuropsychiatric disorders including schizophrenia. Recently, studies have also revealed that CNVs in non-coding regions play an essential role in genomic variability in addition to disease susceptibility. In this study, we describe a family affected by a wide range of psychiatric disorders including early onset schizophrenia, schizophreniform disorder, and affective disorders. Microarray analysis identified two rare deletions immediately upstream of the NRXN1 gene affecting the non-coding mRNA AK127244 in addition to the pathogenic 15q11.2 deletion in distinct family members. The two deletions upstream of the NRXN1 gene were found to segregate with psychiatric disorders in the family and further similar deletions have been observed in patients diagnosed with autism spectrum disorder. Thus, we suggest that non-coding regions upstream of the NRXN1 gene affecting AK127244 might (as NRXN1) contain susceptibility regions for a wide spectrum of neuropsychiatric disorders.
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PMID:Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family. 2656 96

Why are boys at risk? To address this question, I use the perspective of regulation theory to offer a model of the deeper psychoneurobiological mechanisms that underlie the vulnerability of the developing male. The central thesis of this work dictates that significant gender differences are seen between male and female social and emotional functions in the earliest stages of development, and that these result from not only differences in sex hormones and social experiences but also in rates of male and female brain maturation, specifically in the early developing right brain. I present interdisciplinary research which indicates that the stress-regulating circuits of the male brain mature more slowly than those of the female in the prenatal, perinatal, and postnatal critical periods, and that this differential structural maturation is reflected in normal gender differences in right-brain attachment functions. Due to this maturational delay, developing males also are more vulnerable over a longer period of time to stressors in the social environment (attachment trauma) and toxins in the physical environment (endocrine disruptors) that negatively impact right-brain development. In terms of differences in gender-related psychopathology, I describe the early developmental neuroendocrinological and neurobiological mechanisms that are involved in the increased vulnerability of males to autism, early onset schizophrenia, attention deficit hyperactivity disorder, and conduct disorders as well as the epigenetic mechanisms that can account for the recent widespread increase of these disorders in U.S. culture. I also offer a clinical formulation of early assessments of boys at risk, discuss the impact of early childcare on male psychopathogenesis, and end with a neurobiological model of optimal adult male socioemotional functions.
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PMID:ALL OUR SONS: THE DEVELOPMENTAL NEUROBIOLOGY AND NEUROENDOCRINOLOGY OF BOYS AT RISK. 2804 63