Behavioral and neuroimaging research of reading: A case of Japanese

Behavioral studies showed that AS, an English-Japanese bilingual was a skilled reader in Japanese but was a phonological dyslexic in English. This behavioral dissociation was accounted for by the Hypothesis of Transparency and Granularity postulated by Wydell & Butterworth. However, a neuroimaging study using MEG (magnetoencephalography) revealed that AS has the same functional deficit in the left superior temporal gyrus (STG). This paper therefore offers an answer to this intriguing discrepancy between the behavioral dissociation and the neural unity in AS by reviewing existing behavioral and neuroimaging studies in alphabetic languages such as English, Finnish, French, and Italian, and nonalphabetic languages such as Japanese and Chinese.

Intervenção psicomotora nas perturbações do espectro do autismo na Associação Portuguesa para as Perturbações do Desenvolvimento e Autismo, APPDA, de Lisboa

O presente relatório descreve as atividades de estágio desenvolvidas no âmbito do Mestrado em Reabilitação Psicomotora, Ramo de Aprofundamento de Competências Profissionais, da Faculdade de Motricidade Humana, realizado na Associação Portuguesa para as Perturbações do Desenvolvimento e Autismo (APPDA) - Lisboa, justamente no Centro de Atividades Ocupacionais (CAO) com 47 jovens e adultos e no Centro de Recursos para a Inclusão (CRI) com 21 crianças e jovens, alunos de seis escolas do ensino regular, integrados em Unidades de Ensino Estruturado para o Autismo (UEEA). O estágio profissionalizante desenrolou-se mediante sessões de intervenção psicomotora em ginásio e meio aquático, em contexto de grupo ou individual acompanhando crianças, jovens e adultos com Perturbações do Desenvolvimento e da Aprendizagem, com maior incidência com Perturbações do Espectro do Autismo. O relatório apresenta o enquadramento teórico, legal e institucional e realização da prática profissional, sendo descritos cinco estudos de caso, enquanto modelos exemplificativos do trabalho desenvolvido, adicionando-se uma reflexão acerca da experiência de estágio. Para cada estudo-caso encontra-se descrito o processo de avaliação, estabelecimento de objetivos, programa pedagógico-terapêutico, resultados e respetiva análise. Da referida intervenção foi possível constatar melhorias, tanto a nível psicomotor como emocional e comportamental, sugerindo os benefícios do contributo da intervenção psicomotora nas Perturbações do Desenvolvimento e Aprendizagem.

Assessment of Risk Factors and Prognosis in Asphyxiated Infants

Background: Asphyxia is considered an important cause of morbidity and mortality in neonates. This condition can affect many vital organs including the central nervous system and may eventually lead to death or developmental disorders. Objectives: Considering the high prevalence of asphyxia and its adverse consequences, the present study was conducted to evaluate the risk factors for birth asphyxia and assess their correlation with prognosis in asphyxiated infants. Patients and Methods: This two-year follow-up cohort study was conducted on 260 infants (110 asphyxiated infants and 150 healthy neonates) at Mashhad Ghaem Hospital during 2007 - 2014. Data collection tools consisted of a researcher-designed questionnaire including maternal and neonatal information and clinical/laboratory test results. The subjects were followed-up, using Denver II test for 6, 12, 18, and 24 months (after discharge). For data analysis, t-test was performed, using SPSS version 16.5. P value ≤ 0.05 was considered statistically significant. Results: Of 260 neonates, 199 (76.5%) and 61 (23.5%) cases presented with normal neonatal outcomes and with abnormal neonatal outcomes (developmental delay), respectively. Variables such as the severity of asphyxia (P = 0.000), five-minute Apgar score (P = 0.015), need for ventilation (P = 0.000), and severity of acidosis at birth (P = 0.001) were the major prognostic factors in infants with asphyxia. Additionally, prognosis was significantly poorer in boys and infants with dystocia history (P = 0.000). Conclusions: Prevalence of risk factors for developmental delay including the severity of asphyxia need for mechanical ventilation, and severity of acidosis at birth, dystocia, and Apgar score were lower in surviving infants; therefore, controlling these risk factors may reduce asphyxia-associated complications.

Applied machine learning for personalised early intervention in autism

This thesis is the first to address the problems of early intervention in Autism Spectrum Disorder through the lens of machine learning and data analytics. The key contribution is the establishment of large datasets in this domain for the first time together with a systematic data-based approach to extract knowledge relevant to Autism.

Prevalencia de síntomas relacionados con desórdenes musculo esqueléticos en trabajadores de una empresa dedicada a la venta y distribución de medicamentos y equipos médicos - Colombia, 2015.

Introducción: Los Desórdenes Musculo-Esqueléticos (DME) tienen origen multifactorial. En Colombia corresponden al principal grupo diagnóstico en procesos relacionados con la determinación de origen y pérdida de capacidad laboral. Objetivo: Determinar la relación entre síntomas musculo-esqueléticos y factores relacionados con la carga física en trabajadores de una empresa dedicada a la venta y distribución de medicamentos y equipos médicos, Bogotá (Colombia), en el año 2015. Materiales y Métodos: Estudio de corte transversal en 235 trabajadores. Se incluyeron variables sociodemográficas, ocupacionales y las relacionadas con los síntomas musculoesqueléticos y carga física. Se utilizó en cuestionario ERGOPAR. Para el análisis se utilizó la Prueba Exacta de Fisher, el Odds Ratio (OR) con el Intervalo de Confianza (IC) del 95%. Se realizó el análisis Multivariado con Regresión Logística Binaria. Resultados: La prevalencia de síntomas relacionados con DME fue de 79,2%, siendo más prevalente en cuello, hombros y columna dorsal (48,1%), seguido por columna lumbar (35,3%). Se encontró una asociación entre síntomas en cuello, hombros y/o columna dorsal con el sexo femenino (p=0,005, OR=2,33, 95%IC: 1,2-4,2); adoptar postura bípeda menos de 30 minutos (p=0,004, OR=3,34, 95%IC: 1,4-7,6); adoptar postura cabeza/cuello inclinado hacia delante entre 30 minutos y 2 horas (p=0,007, OR=3,25, 95%IC :1,3-7,7) y en columna lumbar con adoptar postura espalda/tronco hacia delante entre 30 minutos y 2 horas (p=0,001, OR=4,27, 95%IC: 1,7-10,3); y la antigüedad en el cargo entre 1 y 5 años (p=0,009, OR=3,47, 95%IC: 1,3-8,8). Conclusión: Las posturas bípedas con y sin desplazamiento, inclinaciones de tronco y cabeza, transporte manual de cargas, sexo femenino, antigüedad en el cargo y edad están asociadas conjuntamente al riesgo para presentar DME.

Tornar-se pai/mãe de uma criança com transtornos graves do desenvolvimento

The interest in research on parents of children with severe developmental disorders has known different focuses of interest over time, from a more psychopathological approach, interested in describing the negative aspects of the impact of having a child with disabilities, to the study of coping strategies used to deal with the situation, and the study of the strength and resilience mobilized by these parents. The big change, however, is that the concern about parents is not only because of the child, but also for what happens in their own development processes. This developmental perspective is addressed here to the construction of the fundamental attachment between mother/father and the baby, how this bond is broken, and how it can be reconstructed when the child has a severe disability diagnosis. Only the resumption of parents’ developmental process will enable them to perform their parenting in an emotionally appropriate and consistent manner, based on adequate responsiveness in everyday life situations. This view allows to open new interdisciplinary challenges about how to work on early intervention in child development and to a comprehensive understanding of the family centered intervention.

Rare chromosome disorders and their developmental consequences

Professionals working in disability services often encounter clients who have chromosome disorders such as Williams, Angelman or Down syndromes. As chromosome testing becomes increasingly sophisticated, however, more people are being diagnosed with very rare chromosome disorders that are identified not by a syndrome name, but rather by a description of the number, size and shape of their chromosomes (called the karyotype) or by a report of chromosome losses and gains detected through an advanced process known as microarray-based comparative genomic hybridisation (array CGH). For practitioners who work with individuals with rare chromosome disorders and their families, a basic level of knowledge about the evolving field of genetics, as well as specific knowledge about chromosome abnormalities, is essential since they must be able to demonstrate their knowledge and skills to clients (Simic & Turk, 2004). In addition, knowledge about the developmental consequences of various rare chromosome disorders is important for guiding prognoses, expectations, decisions and interventions. The current article provides information that aims to help practitioners work more effectively with this population. It begins by presenting essential information about chromosomes and their numerical and structural abnormalities and then considers the developmental consequences of rare chromosome disorders through a critical review of relevant literature.

Work related musculoskeletal disorders amongst therapists in physically demanding roles: Qualitative analysis of risk factors and strategies for prevention

Background Physiotherapy and occupational therapy are two professions at high risk of work related musculoskeletal disorders (WRMD). This investigation aimed to identify risk factors for WRMD as perceived by the health professionals working in these roles (Aim 1), as well as current and future strategies they perceive will allow them to continue to work in physically demanding clinical roles (Aim 2). Methods A two phase exploratory investigation was undertaken. The first phase included a survey administered via a web based platform with qualitative open response items. The second phase involved four focus group sessions which explored topics obtained from the survey. Thematic analysis of qualitative data from the survey and focus groups was undertaken. Results Overall 112 (34.3%) of invited health professionals completed the survey; 66 (58.9%) were physiotherapists and 46 (41.1%) were occupational therapists. Twenty-four health professionals participated in one of four focus groups. The risk factors most frequently perceived by health professionals included: work postures and movements, lifting or carrying, patient related factors and repetitive tasks. The six primary themes for strategies to allow therapists to continue to work in physically demanding clinical roles included: organisational strategies, workload or work allocation, work practices, work environment and equipment, physical condition and capacity, and education and training. Conclusions Risk factors as well as current and potential strategies for reducing WRMD amongst these health professionals working in clinically demanding roles have been identified and discussed. Further investigation regarding the relative effectiveness of these strategies is warranted.

The developmental consequences of rare chromosome disorders : two case reports

Aim: As molecular and cytogenetic testing becomes increasingly sophisticated, more individuals are being diagnosed with rare chromosome disorders. Yet despite a burgeoning knowledge about biomedical aspects, little is known about implications for psychosocial development. The scant literature gives a general impression of deficits and adverse developmental outcomes. Method: Developmental data were obtained from two 16 year olds diagnosed with a rare chromosome disorder – a girl with 8p23.1 and a boy with 16q11.2q12.1. Measures of intellectual ability, academic achievement, and other aspects of functioning were administered at multiple time points from early childhood to adolescence. Results: Both adolescents experienced initial delays in motor and language development. Although the girl’s intelligence is assessed as being in the average range, she experiences difficulties with motor planning, spelling and writing. The boy has been diagnosed with a mild intellectual disability and demonstrates mild autistic features. Conclusions: The two case descriptions are in marked contrast to the published literature about these two chromosome anomalies. Both adolescents are developing much more positively than would be expected on the basis of the grim predictions of their paediatricians and the negative reports in the literature. It is concluded that, for most rare chromosome disorders, the range of possible developmental outcomes is currently unknown.

Developmental origins of psychological vulnerability factors for mental disorders

Premature birth and associated small body size are known to affect health over the life course. Moreover, compelling evidence suggests that birth size throughout its whole range of variation is inversely associated with risk for cardiovascular disease and type 2 diabetes in subsequent life. To explain these findings, the Developmental Origins of Health and Disease (DOHaD) model has been introduced. Within this framework, restricted physical growth is, to a large extent, considered either a product of harmful environmental influences, such as suboptimal nutrition and alterations in the foetal hormonal milieu, or an adaptive reaction to the environment. Whether inverse associations exist between body size at birth and psychological vulnerability factors for mental disorders is poorly known. Thus, the aim of this thesis was to study in three large prospective cohorts whether prenatal and postnatal physical growth, across the whole range of variation, is associated with subsequent temperament/personality traits and psychological symptoms that are considered vulnerability factors for mental disorders. Weight and length at birth in full term infants showed quadratic associations with the temperamental trait of harm avoidance (Study I). The highest scores were characteristic of the smallest individuals, followed by the heaviest/longest. Linear associations between birth size and psychological outcomes were found such that lower weight and thinness at birth predicted more pronounced trait anxiety in late adulthood (Study II); lower birth weight, placental size, and head circumference at 12 months predicted a more pronounced positive schitzotypal trait in women (Study III); and thinness and smaller head circumference at birth associated with symptoms of attention-deficit hyperactivity disorder (ADHD) in children who were born at term (Study IV). These associations occured across the whole variation in birth size and after adjusting for several confounders. With respect to growth after birth, individuals with high trait anxiety scores in late adulthood were lighter in weight and thinner in infancy, and gained weight more rapidly between 7 and 11 years of age, but weighed less and were shorter in late adulthood in relation to weight and height measured at 11 years of age (Study II). These results suggest that a suboptimal prenatal environment reflected in smaller birth size may affect a variety of psychological vulnerability factors for mental disorders, such as the temperamental trait of harm avoidance, trait anxiety, schizotypal traits, and symptoms of ADHD. The smaller the birth size across the whole range of variation, the more pronounced were these psychological vulnerability factors. Moreover, some of these outcomes, such as trait anxiety, were also predicted by patterns of growth after birth. The findings are concordant with the DOHaD model, and emphasise the importance of prenatal factors in the aetiology of not only mental disorders but also their psychological vulnerability factors.

Regional research priorities in brain and nervous system disorders

The characteristics of neurological, psychiatric, developmental and substance-use disorders in low-and middle-income countries are unique and the burden that they have will be different from country to country. Many of the differences are explained by the wide variation in population demographics and size, poverty, conflict, culture, land area and quality, and genetics. Neurological, psychiatric, developmental and substance-use disorders that result from, or are worsened by, a lack of adequate nutrition and infectious disease still afflict much of sub-Saharan Africa, although disorders related to increasing longevity, such as stroke, are on the rise. In the Middle East and North Africa, major depressive disorders and post-traumatic stress disorder are a primary concern because of the conflict-ridden environment. Consanguinity is a serious concern that leads to the high prevalence of recessive disorders in the Middle East and North Africa and possibly other regions. The burden of these disorders in Latin American and Asian countries largely surrounds stroke and vascular disease, dementia and lifestyle factors that are influenced by genetics. Although much knowledge has been gained over the past 10 years, the epidemiology of the conditions in low-and middle-income countries still needs more research. Prevention and treatments could be better informed with more longitudinal studies of risk factors. Challenges and opportunities for ameliorating nervous-system disorders can benefit from both local and regional research collaborations. The lack of resources and infrastructure for health-care and related research, both in terms of personnel and equipment, along with the stigma associated with the physical or behavioural manifestations of some disorders have hampered progress in understanding the disease burden and improving brain health. Individual countries, and regions within countries, have specific needs in terms of research priorities.

Biological rationale for regular physical exercise as an effective intervention for the prevention and treatment of depressive disorders

Depression is a major medical and social problem. Here we review current body of knowledge on the benefits of exercise as an effective strategy for both the prevention and treatment of this condition. We also analyze the biological pathways involved in such potential benefits, which include changes in neurotrophic factors, oxidative stress and inflammation, telomere length, brain volume and microvessels, neurotransmitters or hormones. We also identify major caveats in this field of research: further studies are needed to identify which are the most appropriate types of exercise interventions (intensity, duration, or frequency) to treat and prevent depression.