The biopsychosocial processes in autism spectrum disorder

Abstract Background Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders. Method Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords "autism", "theory of mind", "executive functions", "central coherence" and “fMRI”. Results The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced. Conclusions The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder

Here, we describe a female patient with autism spectrum disorder and dysmorphic features that harbors a complex genetic alteration, involving a de novo balanced translocation t(2;X)(q11;q24), a 5q11 segmental trisomy and a maternally inherited isodisomy on chromosome 5. All the possibly damaging genetic effects of such alterations are discussed. In light of recent findings on ASD genetic causes, the hypothesis that all these alterations might be acting in orchestration and contributing to the phenotype is also considered. (C) 2012 Wiley Periodicals, Inc.

Myasthenia gravis and neuromyelitis optica spectrum disorder A multicenter study of 16 patients

Objective: To describe 16 patients with a coincidence of 2 rare diseases: aquaporin-4 antibody (AQP4-Ab)-mediated neuromyelitis optica spectrum disorder (AQP4-NMOSD) and acetylcholine receptor antibody (AChR-Ab)-mediated myasthenia gravis (AChR-MG). Methods: The clinical details and antibody results of 16 patients with AChR-MG and AQP4-NMOSD were analyzed retrospectively. Results: All had early-onset AChR-MG, the majority with mild generalized disease, and a high proportion achieved remission. Fifteen were female; 11 were Caucasian. In 14/16, the MG preceded NMOSD (median interval: 16 years) and 11 of these had had a thymectomy although 1 only after NMOSD onset. In 4/5 patients tested, AQP4-Abs were detectable between 4 and 16 years prior to disease onset, including 2 patients with detectable AQP4-Abs prior to thymectomy. AChR-Abs decreased and the AQP4-Ab levels increased over time in concordance with the relevant disease. AChR-Abs were detectable at NMOSD onset in the one sample available from 1 of the 2 patients with NMOSD before MG. Conclusions: Although both conditions are rare, the association of MG and NMOSD occurs much more frequently than by chance and the MG appears to follow a benign course. AChR-Abs or AQP4-Abs may be present years before onset of the relevant disease and the antibody titers against AQP4 and AChR tend to change in opposite directions. Although most cases had MG prior to NMOSD onset, and had undergone thymectomy, NMOSD can occur first and in patients who have not had their thymus removed. Neurology (R) 2012;78:1601-1607

Auditory and communicative abilities in the auditory neuropathy spectrum disorder and mutation in the Otoferlin gene: clinical cases study

This study had the aim to investigate the auditory and communicative abilities of children diagnosed with Auditory Neuropathy Spectrum Disorder due to mutation in the Otoferlin gene. It is a descriptive and qualitative study in which two siblings with this diagnosis were assessed. The procedures conducted were: speech perception tests for children with profound hearing loss, and assessment of communication abilities using the Behavioral Observation Protocol. Because they were siblings, the subjects in the study shared family and communicative context. However, they developed different communication abilities, especially regarding the use of oral language. The study showed that the Auditory Neuropathy Spectrum Disorder is a heterogeneous condition in all its aspects, and it is not possible to make generalizations or assume that cases with similar clinical features will develop similar auditory and communicative abilities, even when they are siblings. It is concluded that the acquisition of communicative abilities involves subjective factors, which should be investigated based on the uniqueness of each case.

Occurrence of bipolar spectrum disorder and comorbidities in women with eating disorders

Abstract Background Eating disorder (ED) patients often have comorbidities with other psychiatric disorders, especially with mood disorders. Although recent studies suggest an intimate relationship between ED and bipolar disorder (BD), the study on a broader bipolar spectrum definition has not been done in this population. We aimed to study the occurrence of bipolar spectrum (BS) and comorbidities in eating disorder patients of a tertiary service provider. Methods Sixty-nine female patients diagnosed with anorexia nervosa, bulimia nervosa, or eating disorder not otherwise specified were evaluated. The assessment comprised the Structured Clinical Interview for DSM-IV Axis I Disorders (SCID-I), clinical criteria for diagnosis of the Zurich bipolar spectrum. Mann–Whitney tests compared means of continuous variables. The association between categorical variables and the groups was described using contingency tables and analyzed using the chi-square or Fisher's exact test. The level of significance alpha was set at 5%. Results The results showed that 68.1% of patients had comorbidity with bipolar spectrum, and this was associated with higher family income, proportion of married people, and comorbidity with substance use. The ED with BS group showed higher rates of substance use comorbidity (40.4%) than the ED without BS group (13.6%). Discussion These results showed that the bipolar spectrum is a common comorbidity in patients with eating disorders and is associated with correlates of clinical importance, notably the comorbidity with substance use. Due to the pattern of similarity between the groups with and without comorbid bipolar spectrum in relation to various outcomes evaluated, the identification of comorbidity can be difficult. However, the precise diagnosis and careful identification of clinical correlates may contribute to future advances in treating these conditions. Further studies are necessary to evaluate the association of other clinical correlates and its possible causal association.

Speech perception and cortical auditory evoked potentials in cochlear implant users with auditory neuropathy spectrum disorders

Objective: To characterize the PI component of long latency auditory evoked potentials (LLAEPs) in cochlear implant users with auditory neuropathy spectrum disorder (ANSD) and determine firstly whether they correlate with speech perception performance and secondly whether they correlate with other variables related to cochlear implant use. Methods: This study was conducted at the Center for Audiological Research at the University of Sao Paulo. The sample included 14 pediatric (4-11 years of age) cochlear implant users with ANSD, of both sexes, with profound prelingual hearing loss. Patients with hypoplasia or agenesis of the auditory nerve were excluded from the study. LLAEPs produced in response to speech stimuli were recorded using a Smart EP USB Jr. system. The subjects' speech perception was evaluated using tests 5 and 6 of the Glendonald Auditory Screening Procedure (GASP). Results: The P-1 component was detected in 12/14 (85.7%) children with ANSD. Latency of the P-1 component correlated with duration of sensorial hearing deprivation (*p = 0.007, r = 0.7278), but not with duration of cochlear implant use. An analysis of groups assigned according to GASP performance (k-means clustering) revealed that aspects of prior central auditory system development reflected in the P-1 component are related to behavioral auditory skills. Conclusions: In children with ANSD using cochlear implants, the P-1 component can serve as a marker of central auditory cortical development and a predictor of the implanted child's speech perception performance. (c) 2012 Elsevier Ireland Ltd. All rights reserved.

Questionário sobre dificuldades comunicativas percebidas por pais de crianças do espectro do autismo

OBJETIVO: Elaborar um questionário para o levantamento de dificuldades comunicativas percebidas por pais e/ou cuidadores de crianças do espectro do autismo em relação a seus filhos. MÉTODOS: Os aspectos específicos abordados no questionário foram identificados a partir da literatura e da experiência clínica das autoras em dois serviços especializados. As questões foram organizadas segundo diferentes domínios e as respostas registradas numa escala tipo Likert. Foi realizado um estudo piloto com 40 pais, 20 pais de crianças do espectro do autismo e 20 pais de crianças sem queixas de linguagem, como forma de verificar a aplicabilidade do questionário construído e sua utilidade na identificação de dificuldades específicas da população alvo. Foi calculado o nível de concordância das questões e os resultados dos grupos foram comparados entre si (teste t Student). RESULTADOS: O questionário foi desenvolvido de maneira a abranger aspectos fundamentais para o relacionamento interpessoal, tanto no âmbito comunicativo quanto social. Foi dividido em 24 questões fechadas que abrangem quatro domínios; e uma questão aberta, com espaço para que os pais relatassem algo relevante e que não tenha sido perguntado. O estudo possibilitou testar a compreensão do instrumento e a análise estatística indicou que 19 questões apresentaram diferença. CONCLUSÃO: O questionário elaborado identificou diferenças na percepção e atitude de pais de crianças do espectro do autismo e de crianças sem queixa de linguagem, em relação às dificuldades de comunicação com seus filhos. Dessa forma, mostrou-se útil para o levantamento dessas dificuldades em um grupo maior de indivíduos.

Functional Communication Profile - Revised: uma proposta de caracterização objetiva de crianças e adolescentes do espectro do autismo

OBJETIVO: Caracterizar objetivamente as alterações de crianças e adolescentes incluídos no espectro do autismo de acordo com o grau de severidade definido a partir das respostas ao Functional Communication Profile - Revised (FCP-R). MÉTODOS: Foram selecionadas 50 crianças (idade média 7 anos e 11 meses) com diagnósticos no espectro do autismo que foram avaliados segundo os critérios do FCP-R. As respostas obtidas foram pontuadas e classificadas de acordo com a severidade e realizada análise estatística pertinente. RESULTADOS: A caracterização dessa população evidenciou dados concordantes com a literatura, mostrando prejuízos nas áreas de linguagem (expressiva e receptiva), comportamento e pragmática, principalmente. Os indivíduos que não possuem habilidades verbais evidenciaram, ainda, alterações referentes aos domínios fala e fluência. CONCLUSÃO: O FCP-R foi sensível para caracterizar a população estudada, mostrando-se ainda mais eficaz para a avaliação individualizada.

A Sib-Pair analysis of impulsivity in bipolar disorder type I

OBJECTIVE: The aim of this study was to compare impulsivity among patients with bipolar disorder, their siblings, and healthy controls in order to examine whether impulsivity in bipolar disorder is related to genetic liability for the illness. METHODS: Using the Barratt Impulsiveness Scale, we assessed 204 subjects: 67 euthymic outpatients with bipolar disorder type I, 67 siblings without bipolar disorder, and 70 healthy controls. RESULTS: Impulsivity scores were higher among patients with bipolar disorder than among healthy controls. Siblings showed higher motor impulsivity scores than did healthy controls. CONCLUSIONS: Our results suggest that motor impulsivity may be a vulnerability marker for bipolar disorder. Our data may contribute to further improve preventive strategies in subjects at high risk for bipolar disorder.

Respiratory rehabilitation: a physiotherapy approach to the control of asthma symptoms and anxiety

OBJECTIVES: The objectives of this study were to verify the degree of anxiety, respiratory distress, and health-related quality of life in a group of asthmatic patients who have experienced previous panic attacks. Additionally, we evaluated if a respiratory physiotherapy program (breathing retraining) improved both asthma and panic disorder symptoms, resulting in an improvement in the health-related quality of life of asthmatics. METHODS: Asthmatic individuals were assigned to a chest physiotherapy group that included a breathing retraining program held once a week for three months or a paired control group that included a Subtle Touch program. All patients were assessed using the Diagnostic and Statistical Manual of Mental Disorders IV, the Sheehan Anxiety Scale, the Quality of Life Questionnaire, and spirometry parameter measurements. RESULTS: Both groups had high marks for panic disorder and agoraphobia, which limited their quality of life. The Breathing Retraining Group program improved the clinical control of asthma, reduced panic symptoms and agoraphobia, decreased patient scores on the Sheehan Anxiety Scale, and improved their quality of life. Spirometry parameters were unchanged. CONCLUSION: Breathing retraining improves the clinical control of asthma and anxiety symptoms and the health-related quality of life in asthmatic patients.

ESPECTRA: Searching the Bipolar Spectrum in Eating Disorder patients

Abstract Background Bipolar Disorder (BD) is a chronic, recurrent and highly prevalent illness. Despite the need for correct diagnosis to allow proper treatment, studies have shown that reaching a diagnosis can take up to ten years due to the lack of recognition of the broader presentations of BD. Frequent comorbidities with other psychiatric disorders are a major cause of misdiagnosis and warrant thorough evaluation. Methods/Design ESPECTRA (Occurrence of Bipolar Spectrum Disorders in Eating Disorder Patients) is a single-site cross-sectional study involving a comparison group, designed to evaluate the prevalence of bipolar spectrum in an eating disorder sample. Women aged 18-45 years will be evaluated using the SCID-P and Zurich criteria for diagnosis and the HAM-D, YOUNG, SCI-MOODS, HCL-32, BIS-11, BSQ, WHOQoL and EAS instruments for rating symptoms and measuring clinical correlates. Discussion The classificatory systems in psychiatry are based on categorical models that have been criticized for simplifying the diagnosis and leading to an increase in comorbidities. Some dimensional approaches have been proposed aimed at improving the validity and reliability of psychiatric disorder assessments, especially in conditions with high rates of comorbidity such as BD and Eating Disorder (ED). The Bipolar Spectrum (BS) remains under-recognized in clinical practice and its definition is not well established in current diagnostic guidelines. Broader evaluation of psychiatric disorders combining categorical and dimensional views could contribute to a more realistic understanding of comorbidities and help toward establishing a prognosis.

Impact of sunlight on the age of onset of bipolar disorder

Bauer M, Glenn T, Alda M, Andreassen OA, Ardau R, Bellivier F, Berk M, Bjella TD, Bossini L, Del Zompo M, Dodd S, Fagiolini A, Frye MA, Gonzalez-Pinto A, Henry C, Kapczinski F, Kliwicki S, Konig B, Kunz M, Lafer B, Lopez-Jaramillo C, Manchia M, Marsh W, Martinez-Cengotitabengoa M, Melle I, Morken G, Munoz R, Nery FG, ODonovan C, Pfennig A, Quiroz D, Rasgon N, Reif A, Rybakowski J, Sagduyu K, Simhandl C, Torrent C, Vieta E, Zetin M, Whybrow PC. Impact of sunlight on the age of onset of bipolar disorder. Bipolar Disord 2012: 14: 654663. (c) 2012 The Authors. Journal compilation (c) 2012 John Wiley & Sons A/S. Objective: Although bipolar disorder has high heritability, the onset occurs during several decades of life, suggesting that social and environmental factors may have considerable influence on disease onset. This study examined the association between the age of onset and sunlight at the location of onset. Method: Data were obtained from 2414 patients with a diagnosis of bipolar I disorder, according to DSM-IV criteria. Data were collected at 24 sites in 13 countries spanning latitudes 6.3 to 63.4 degrees from the equator, including data from both hemispheres. The age of onset and location of onset were obtained retrospectively, from patient records and/or direct interviews. Solar insolation data, or the amount of electromagnetic energy striking the surface of the earth, were obtained from the NASA Surface Meteorology and Solar Energy (SSE) database for each location of onset. Results: The larger the maximum monthly increase in solar insolation at the location of onset, the younger the age of onset (coefficient= -4.724, 95% CI: -8.124 to -1.323, p = 0.006), controlling for each countrys median age. The maximum monthly increase in solar insolation occurred in springtime. No relationships were found between the age of onset and latitude, yearly total solar insolation, and the maximum monthly decrease in solar insolation. The largest maximum monthly increases in solar insolation occurred in diverse environments, including Norway, arid areas in California, and Chile. Conclusion: The large maximum monthly increase in sunlight in springtime may have an important influence on the onset of bipolar disorder.

The spectrum of high-energy cosmic rays measured with KASCADE-Grande

The energy spectrum of cosmic rays between 10(16) eV and 10(18) eV, derived from measurements of the shower size (total number of charged particles) and the total muon number of extensive air showers by the KASCADE-Grande experiment, is described. The resulting all-particle energy spectrum exhibits strong hints for a hardening of the spectrum at approximately 2 . 10(16) eV and a significant steepening at approximate to 8 . 10(16) eV. These observations challenge the view that the spectrum is a single power law between knee and ankle. Possible scenarios generating such features are discussed in terms of astrophysical processes that may explain the transition region from galactic to extragalactic origin of cosmic rays. (C) 2012 Elsevier B.V. All rights reserved.

Clinical correlates of social adjustment in patients with obsessive-compulsive disorder

Background: Patients with obsessive-compulsive disorder (OCD) frequently show poor social adjustment, which has been associated with OCD severity. Little is known about the effects that age at symptom onset, specific OCD symptoms, and psychiatric comorbidities have on social adjustment. The objective of this study was to investigate the clinical correlates of social functioning in OCD patients. Methods: Cross-sectional study involving 815 adults with a primary DSM-IV diagnosis of OCD participating in the Brazilian Research Consortium on Obsessive-Compulsive Spectrum Disorders. Patients were assessed with the Social Adjustment Scale, the Medical Outcomes Study 36-item Short-Form Health Survey, the Yale-Brown Obsessive-Compulsive Scale, the Dimensional Yale-Brown Obsessive-Compulsive Scale, and the Structured Clinical Interview for DSM-IV Axis I Disorders. Clinical correlates of social adjustment were assessed with generalized linear models with gamma distribution. Results: Poor overall social functioning was associated with greater OCD severity (p = 0.02); hoarding symptoms (p = 0.004); sexual/religious obsessions (p = 0.005); current major depressive disorder (p = 0.004); current post-traumatic stress disorder (p = 0.002); and current eating disorders (p = 0.02). Poor social adjustment was also associated with impaired quality of life. Conclusions: Patients with OCD have poor social functioning in domains related to personal relationships and professional performance. Hoarding symptoms and sexual/religious obsessions seem to have the strongest negative effects on social functioning. Early age at OCD symptom onset seems to be associated with professional and academic underachievement and impairment within the family unit, whereas current psychiatric comorbidity worsen overall social functioning. In comparison with quality of life, social adjustment measures seem to provide a more comprehensive overview of the OCD-related burden. (C) 2012 Elsevier Ltd. All rights reserved.