Higher prevalence of obsessive-compulsive spectrum disorders in rheumatic fever

Objective: This study aims to compare the prevalence of obsessive-compulsive spectrum disorders (OCSD) in psychiatric outpatients with and without a history of rheumatic fever (RF).Methods: An analytical cross-sectional study assessing a large sample of consecutive psychiatric outpatients at a Brazilian private practice was conducted during a 10-year period. Psychiatric diagnoses were made by a senior psychiatrist based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Best-estimate diagnosis procedure was also performed.Results: The total sample comprised 678 subjects, 13 of whom (1.92%) presented with a previous history of RF. This group showed a higher prevalence of subclinical obsessive-compulsive disorder (P=.025) and OCSD (P=.007) when compared to individuals with no such history.Conclusions: A previous history of RF was associated with OCSD. These results suggest that clinicians should be encouraged to actively investigate obsessive-compulsive symptoms and related disorders in patients with a positive history of RF. (C) 2009 Published by Elsevier B.V.

The Brazilian Research Consortium on Obsessive-Compulsive Spectrum Disorders: recruitment, assessment instruments, methods for the development of multicenter collaborative studies and preliminary results

OBJETIVO: Descrever o recrutamento de pacientes, instrumentos de avaliação, métodos para o desenvolvimento de estudos colaborativos multicêntricos e os resultados preliminares do Consórcio Brasileiro de Pesquisa em Transtornos do Espectro Obsessivo-Compulsivo, que inclui sete centros universitários. MÉTODO: Este estudo transversal incluiu entrevistas semi-estruturadas (dados sociodemográficos, histórico médico e psiquiátrico, curso da doença e diagnósticos psiquiátricos comórbidos) e instrumentos que avaliam os sintomas do transtorno obsessivo-compulsivo (Escala para Sintomas Obsessivo-Compulsivos de Yale-Brown e Escala Dimensional para Sintomas Obsessivo-Compulsivos de Yale-Brown), sintomas depressivos (Inventário de Depressão de Beck), sintomas ansiosos (Inventário de Ansiedade de Beck), fenômenos sensoriais (Escala de Fenômenos Sensoriais da Universidade de São Paulo), juízo crítico (Escala de Avaliação de Crenças de Brown), tiques (Escala de Gravidade Global de Tiques de Yale) e qualidade de vida (questionário genérico de avaliação de qualidade de vida, Medical Outcome Quality of Life Scale Short-form-36 e Escala de Avaliação Social). O treinamento dos avaliadores consistiu em assistir cinco entrevistas filmadas e entrevistar cinco pacientes junto com um pesquisador mais experiente, antes de entrevistar pacientes sozinhos. A confiabilidade entre todos os líderes de grupo para os instrumentos mais importantes (Structured Clinical Interview for DSM-IV, Dimensional Yale-Brown Obsessive-Compulsive Scale, Universidade de São Paulo Sensory Phenomena Scale ) foi medida após seis entrevistas completas. RESULTADOS: A confiabilidade entre avaliadores foi de 96%. Até março de 2008, 630 pacientes com transtorno obsessivo-compulsivo tinham sido sistematicamente avaliados. A média de idade (±SE) foi de 34,7 (±0,51), 56,3% eram do sexo feminino e 84,6% caucasianos. Os sintomas obsessivo-compulsivos mais prevalentes foram os de simetria e os de contaminação. As comorbidades psiquiátricas mais comuns foram depressão maior, ansiedade generalizada e transtorno de ansiedade social. O transtorno de controle de impulsos mais comum foi escoriação neurótica. CONCLUSÃO: Este consórcio de pesquisa, pioneiro no Brasil, permitiu delinear o perfil sociodemográfico, clínico e terapêutico do paciente com transtorno obsessivo-compulsivo em uma grande amostra clínica de pacientes. O Consórcio Brasileiro de Pesquisa em Transtornos do Espectro Obsessivo-Compulsivo estabeleceu uma importante rede de colaboração de investigação clínica padronizada sobre o transtorno obsessivo-compulsivo e pode abrir o caminho para projetos semelhantes destinados a integrar outros grupos de pesquisa no Brasil e em todo o mundo.

Experience, recursive awareness and understanding in autism spectrum disorders : insights of parents and teachers in Singapore

Provision of an individually responsive education requires a comprehensive understanding of the inner worlds of learners, such as their feelings and thoughts. However, this is difficult to achieve when learners, such as those with Autism Spectrum Disorders (ASD) and cognitive difficulties, have problems with communication. To address this issue, the current exploratory descriptive study sought the views of 133 Singaporean parents and teachers of school-age learners with ASD and cognitive difficulties regarding the inner experience of their children and students. The findings highlight the variety of abilities and difficulties found in how these learners experience their own mental states and understand those of others. These abilities and difficulties are characterized according to type of mental state and analysed in line with three qualia, those of experience, recursive awareness and understanding. The findings indicate that learners show a greater awareness of their own mental states compared to their ability to understand these same mental states in others. Educational implications are discussed.

Efficiency of lexical access in children with autism spectrum disorders : does modality matter?

The provision of visual support to individuals with an autism spectrum disorder (ASD) is widely recommended. We explored one mechanism underlying the use of visual supports: efficiency of language processing. Two groups of children, one with and one without an ASD, participated. The groups had comparable oral and written language skills and nonverbal cognitive abilities. In two semantic priming experiments, prime modality and prime–target relatedness were manipulated. Response time and accuracy of lexical decisions on the spoken word targets were measured. In the first uni-modal experiment, both groups demonstrated significant priming effects. In the second experiment which was cross-modal, no effect for relatedness or group was found. This result is considered in the light of the attentional capacity required for access to the lexicon via written stimuli within the developing semantic system. These preliminary findings are also considered with respect to the use of visual support for children with ASD.

The challenges of meeting the needs of children with Autism Spectrum Disorders (ASD) during out of hospital interactoins with Paramedics

This poster presents the results of a critical review of the literature on the intersection between paramedic practice with Autism Spectrum Disorder (ASD) and previews the clinical and communication challenges likely to be experienced with these patients. Paramedics in Australia provide 24/7 out-of-hospital care to the community. Although their core business is to provide emergency care, paramedics also provide care for vulnerable people as a consequence of the social, economic or domestic milieu. Little is known about the frequency of use of emergency out-of-hospital services by children with ASD and their families. Similarly, little is known about the attitudes and perceptions of paramedics to children with ASD and their emergency health care. However, individuals with ASD are likely to require paramedic services at some point across the life span and may be more frequent users of health services as a consequence of the challenges they face. The high rate of co-morbidities of people diagnosed with ASD is reported and includes seizure disorders, gastro-intestinal disorders, metabolic disorders, hormonal dysfunction, ear, nose and throat infections, hearing impairment, hypertension, allergies/anaphylaxis, immune disorders, migraine and diabetes, gross/fine motor skill dysfunction, premature birth, birth defects, obesity and mental illness. Individuals with ASD may frequently experience concurrent communication, behaviour and sensory challenges. Consequently, Paramedics can encounter difficulties gathering important patient information which may compromise sensitive care. These interactions occur often in high pressure and emotionally challenging environments, which add to the difficulties in communicating the treatment and transport needs of this population.

Environmental contributions to autism: Explaining the rise in incidence of autistic spectrum disorders

The incidence of autism spectrum disorders, a heterogenous group of neurodevelopmental disorders is increasing. In response, there has been a concerted effort by researchers to identify environmental risk factors that explain the epidemiological changes seen with autism. Advanced parental age, maternal migrant status, maternal gestational stress, pregnancy and birth complications, maternal obesity and gestational diabetes, maternal vitamin D deficiency, use of antidepressants during gestation and exposure to organochlorine pesticides during pregnancy are all associated with an increased risk of autism. Folic acid use prior to pregnancy may reduce the risk of autism. Exposure to antenatal ultrasonography, maternal gestational cigarette and alcohol use do not appear to influence the risk of autism in offspring. There is little evidence that exposure to environmental toxins such as thimerosal, polybrominated diphenyl ethers and di-(2-ethylhexyl) phthalate in early childhood increases the risk of autism. Apart from birth complications, the current evidence suggests that the majority of environmental factors increasing the risk of autism occur in the antenatal period. Consistent with the rise in incidence in autism, some of these environmental factors are now more common in developed nations. Further research is required to determine how these environmental exposures translate to an increased risk of autism. Understanding how these exposures alter neurodevelopment in autistic children may inform both the aetiopathogenesis and the strategies for prevention of autism.

Genetic Heterogeneity in Autism Spectrum Disorders in a Population Isolate

Positional cloning has enabled hypothesis-free, genome-wide scans for genetic factors contributing to disorders or traits. Traditionally linkage analysis has been used to identify regions of interest, followed by meticulous fine mapping and candidate gene screening using association methods and finally sequencing of regions of interest. More recently, genome-wide association analysis has enabled a more direct approach to identify specific genetic variants explaining a part of the variance of the phenotype of interest. Autism spectrum disorders (ASDs) are a group of childhood onset neuropsychiatric disorders with shared core symptoms but varying severity. Although a strong genetic component has been established in ASDs, genetic susceptibility factors have largely eluded characterization. Here, we have utilized modern molecular genetic methods combined with the advantages provided by the special population structure in Finland to identify genetic risk factors for ASDs. The results of this study show that numerous genetic risk factors exist for ASDs even within a population isolate. Stratification based on clinical phenotype resulted in encouraging results, as previously identified linkage to 3p14-p24 was replicated in an independent family set of families with Asperger syndrome, but no other ASDs. Fine-mapping of the previously identified linkage peak for ASDs at 3q25-q27 revealed association between autism and a subunit of the 5-hydroxytryptamine receptor 3C (HTR3C). We also used dense, genome-wide single nucleotide polymorphism (SNP) data to characterize the population structure of Finns. We observed significant population substructure which correlates with the known history of multiple consecutive bottle-necks experienced by the Finnish population. We used this information to ascertain a genetically homogenous subset of autism families to identify possible rare, enriched risk variants using genome-wide SNP data. No rare enriched genetic risk factors were identified in this dataset, although a subset of families could be genealogically linked to form two extended pedigrees. The lack of founder mutations in this isolated population suggests that the majority of genetic risk factors are rare, de novo mutations unique to individual nuclear families. The results of this study are consistent with others in the field. The underlying genetic architecture for this group of disorders appears highly heterogeneous, with common variants accounting for only a subset of genetic risk. The majority of identified risk factors have turned out to be exceedingly rare, and only explain a subset of the genetic risk in the general population in spite of their high penetrance within individual families. The results of this study, together with other results obtained in this field, indicate that family specific linkage, homozygosity mapping and resequencing efforts are needed to identify these rare genetic risk factors.

Genetic Mechanisms Underlying Autism Spectrum Disorders

Autism is a childhood-onset developmental disorder characterized by deficits in reciprocal social interaction, verbal and non-verbal communication, and dependence on routines and rituals. It belongs to a spectrum of disorders (autism spectrum disorders, ASDs) which share core symptoms but show considerable variation in severity. The whole spectrum affects 0.6-0.7% of children worldwide, inducing a substantial public health burden and causing suffering to the affected families. Despite having a very high heritability, ASDs have shown exceptional genetic heterogeneity, which has complicated the identification of risk variants and left the etiology largely unknown. However, recent studies suggest that rare, family-specific factors contribute significantly to the genetic basis of ASDs. In this study, we investigated the role of DISC1 (Disrupted-in-schizophrenia-1) in ASDs, and identified association with markers and haplotypes previously associated with psychiatric phenotypes. We identified four polymorphic micro-RNA target sites in the 3 UTR of DISC1, and showed that hsa-miR-559 regulates DISC1 expression in vitro in an allele-specific manner. We also analyzed an extended autism pedigree with genealogical roots in Central Finland reaching back to the 17th century. To take advantage of the beneficial characteristics of population isolates to gene mapping and reduced genetic heterogeneity observed in distantly related individuals, we performed a microsatellite-based genome-wide screen for linkage and linkage disequilibrium in this pedigree. We identified a putative autism susceptibility locus on chromosome 19p13.3 and obtained further support for previously reported loci at 1q23 and 15q11-q13. To follow-up these findings, we extended our study sample from the same sub-isolate and initiated a genome-wide analysis of homozygosity and allelic sharing using high-density SNP markers. We identified a small number of haplotypes shared by different subsets of the genealogically connected cases, along with convergent biological pathways from SNP and gene expression data, which highlighted axon guidance molecules in the pathogenesis of ASDs. In conclusion, the results obtained in this thesis show that multiple distinct genetic variants are responsible for the ASD phenotype even within single pedigrees from an isolated population. We suggest that targeted resequencing of the shared haplotypes, linkage regions, and other susceptibility loci is essential to identify the causal variants. We also report a possible micro-RNA mediated regulatory mechanism, which might partially explain the wide-range neurobiological effects of the DISC1 gene.

Assessing the viability of studying motion indicators of autism spectrum disorders in infants at high and low risk for ASD using a passive motion capture system

Gemstone Team AMIRA

Challenges in the diagnosis and treatment of depression in autism spectrum disorders across the lifespan.

Diagnosis and treatment of comorbid neuropsychiatric illness is often a secondary focus of treatment in individuals with autism spectrum disorder (ASD), given that substantial impairment may be caused by core symptoms of ASD itself. However, psychiatric comorbidities, including depressive disorders, are common and frequently result in additional functional impairment, treatment costs, and burden on caregivers. Clinicians may struggle to appropriately diagnose depression in ASD due to communication deficits, atypical presentation of depression in ASD, and lack of standardized diagnostic tools. Specific risk and resilience factors for depression in ASD across the lifespan, including level of functioning, age, family history, and coping style, have been suggested, but require further study. Treatment with medications or psychotherapy may be beneficial, though more research is required to establish guidelines for management of symptoms. This review will describe typical presentations of depression in individuals with ASD, review current information on the prevalence, assessment, and treatment of comorbid depression in individuals with ASD, and identify important research gaps.