Autism Spectrum Disorders

Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients†themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date

Learning Disabilities

Learning disabilities are a heterogeneous group of disorders characterized by failure to acquire, retrieve, and use information competently. These disorders have a multifactorial aetiology and are most common and severe in children, especially when comorbid with other chronic health conditions. This book provides current and comprehensive information about learning disorders, including information on neurobiology, assessment, clinical features, and treatment. Chapters cover such topics as historical research and hypotheses of learning disorders, neuropsychological assessment and counselling, characteristics of specific disorders such as autism and ADHD, evidence-based treatment strategies and assistive technologies, and much more

Supporting medical decisions for treating rare diseases through genetic programming

Bakurov, I., Castelli, M., Vanneschi, L., & Freitas, M. J. (2019). Supporting medical decisions for treating rare diseases through genetic programming. In P. Kaufmann, & P. A. Castillo (Eds.), Applications of Evolutionary Computation: 22nd International Conference, EvoApplications 2019, Held as Part of EvoStar 2019, Proceedings (pp. 187-203). (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 11454 LNCS). Springer Verlag. https://doi.org/10.1007/978-3-030-16692-2_13. ISBN: 978-3-030-16691-5; Online ISBN: 978-3-030-16692-2Casa dos Marcos is the largest specialized medical and residential center for rare diseases in the Iberian Peninsula. The large number of patients and the uniqueness of their diseases demand a considerable amount of diverse and highly personalized therapies, that are nowadays largely managed manually. This paper aims at catering for the emergent need of efficient and effective artificial intelligence systems for the support of the everyday activities of centers like Casa dos Marcos. We present six predictive data models developed with a genetic programming based system which, integrated into a web-application, enabled data-driven support for the therapists in Casa dos Marcos. The presented results clearly indicate the usefulness of the system in assisting complex therapeutic procedures for children suffering from rare diseases.authorsversionpublishe

The Comorbidity of ADHD and Autism Spectrum Disorders (ASDs) in Community Preschoolers

Symptoms of inattention and hyperactivity, features of attention-deficit/hyperactivity disorder (ADHD), have been frequently documented in children with autism spectrum disorders (ASDs) and often co-occur. Evidence indicates that 20-50% of children with ADHD meet criteria for ASD, and 30-80% of ASD children meet criteria for ADHD

Presented Abstracts from the Thirty Fourth Annual Education Conference of the National Society of Genetic Counselors (Pittsburgh, PA, October 2015)

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147137/1/jgc41044.pd

Dissertation: Sociodemographics and Pancreatic Cancer Survival Rate

Pancreatic carcinoma or pancreatic cancer (PaCa) is an insidious disease with a prognosis of 6- to 12-month survival time for a late stage diagnosis. This problem has become crucial given that no study to date had been able to establish a definitive association between independent factors (other than a few diseases) and the survival rate of pancreatic cancer. The purpose of this quantitative, cross-sectional study was to determine whether an association exists between the independent, sociodemographic variables (marital status, age, education, income, and employment) and the outcome variable of survival rate. The social cognitive theory was the framework that provided the blueprint throughout the development of this study and helped guide the analysis of the secondary data, which was procured from the surveillance, epidemiology, and end results program. The sample of 56,166 participants was collected from 2009 to 2013 and Cox proportional hazard was used to analyze the data and arrive at the answers to the research hypotheses. A Cox proportional hazard model was used to analyze whether an association existed between each of the independent variables and the outcome variable. The analysis showed significant association between age, education, income, and employment and survival rate. It was not the same for marital status. These findings could stimulate social change by allowing stakeholders and other policy makers to become aware of the role that sociodemographic factors can play in health care. In addition, a need exists for effective research to be undertaken in the prevention and intervention of this disease. This could then lead to private and public health innovations and procedures to benefit patients with PaCa