Autism Spectrum Disorders : the Role of Genetics in Diagnosis and Treatment

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 00_preface_ Autism Spectrum Disorders The Role of Genetics in Diagnosis and Treatment......Page 1 00a_Early Recognition and Diagnosis......Page 13 01_Early Detection of Autism Spectrum Disorders......Page 15 01a_Nosology and Diagnostic Criteria: What Makes Sense and Can Genetics Help?......Page 27 02_Pervasive Developmental Disorder- not Otherwise Specified: Specifying and Differentiating......Page 29 03_Autism and Genetic Syndromes......Page 43 03a_Genetics and Pathophysiology of Autism Spectrum Disorders......Page 61 04_The Genetics of Autism Spectrum Disorders......Page 63 05_Genetic Heterogeneity of Autism Spectrum Disorders......Page 77 06_The Genetic Basis of Phenotypic Diversity: Autism as an Extreme Tail of a Complex Dimensional Trait......Page 95 07_A New Genetic Mechanism for Autism......Page 115 08_Common Genetic Etiologies and Biological Pathways Shared Between Autism Spectrum Disorders and Intellectual Disabilities......Page 137 08a_Treatment and Genetic Counseling......Page 171 09_Microgenetic Approach to Therapy of Girls with ASD......Page 173 10_Genetic Counseling in Autistic Phenotypes......Page 193