Todd T. Eckdahl - Böcker

This book is an overview of autism spectrum disorder (ASD), an early childhood condition that affects 1 in 68 children in the United States, and an estimated 1 to 2 percent of children worldwide. ASD causes impaired social skills, communication problems, and repetitive behaviors. The severity of ASD symptoms varies widely, ranging from mild effects with minimal impacts on functionality to severe effects that interfere with functionality and can prevent independent living. ASD is a complex trait disease caused by mutation of multiple ASD susceptibility genes, but it also occurs as part of monogenic genetic syndromes. Genetic testing for ASD is described in the book, and examples of ASD susceptibility genes. No treatments are available for the core symptoms of ASD, but the book describes therapies and drug treatments that can modulate them and address some of the health complications of ASD. The book presents new ASD biomarkers that can be used for better diagnosis and explores the hopeful prospect of personalized medicine for ASD.

This book presents Down syndrome, which is the most common chromosomal disorder in humans, occurring at a rate of about 1 in 700 births. It describes the characteristic physical features caused by Down syndrome and the myriad of symptoms and health complications it brings, including heart defects, congenital vision and hearing loss, abnormalities of the musculoskeletal system, digestive problems, epilepsy, leukemia, an increased risk of infectious disease, dementia, and intellectual disability. Readers will learn about methods by which Down syndrome can be diagnosed prenatally or at birth, and the cause of Down syndrome as extra copies of the approximately 250 genes on chromosome 21. The book describes treatments and therapies for Down syndrome, and approaches to the education of children with it. Future prospects for the diagnosis and treatment of Down syndrome are presented, including experimental drugs, stem cell therapies, a process by which embryos produced in a clinical laboratory can be screened for Down syndrome before being used to establish a pregnancy, and several Down syndrome gene therapy strategies.

This book presents muscular dystrophy (MD) as a group of genetic diseases with a worldwide occurrence of about 1 in 3,500 births that causes muscle wasting and weakening.It describes Duchenne MD as the most common type of MD, almost exclusively affecting males at a rate of about 1 in 5,000 boys, and eight rarer types of MD that are categorized by age of onset, muscles affected, disease progression, severity of symptoms, and health complications. The author describes how physical examination, muscle biopsy, medical imaging, and genetic testing is used to diagnose MD He further explains the underlying causes of the various types of MD as mutations in genes that encode proteins needed for the development, function, maintenance, and replacement of muscle cells and illustrates patterns by which they are inherited.There is no treatment that can reverse the progressive deterioration of muscles caused by MD, but the book offers insight into drug treatments and physical therapies that help maintain muscle strength and reduce health complications. It concludes with explanations of promising new ways to treat or perhaps cure MD, including experimental drugs, stem cell therapy, and gene therapy.

This book describes newborn screening as a public health program for the early detection of genetic disorders.It presents the recommended uniform screening panel (RUSP), a list of genetic disorders recommended by the U.S. government for states to include in newborn screening programs. The author describes the categorization of RUSP genetic disorders, discusses the symptoms and health complications of examples from each category, and explains clinical laboratory tests used for newborn screening. The book explores the underlying molecular genetic causes of genetic disorders, and how this information is used for genetic testing during newborn screening and diagnosis. It presents the patterns of inheritance of monogenic genetic disorders, and uses hypothetical family scenarios to illustrate them. Treatments and therapies for selected RUSP genetic disorders are described that illustrate the benefits of early diagnosis. The book describes future prospects for the prevention, diagnosis, and treatment of genetic disorders detected by newborn screening, including experimental drug treatments, the possibility of newborn genome sequencing, and gene therapy.

This book describes how obesity results from an imbalance between the intake of food energy and the expenditure of energy from physical activity and increases the risk of serious health problems including heart disease, stroke, osteoarthritis, and several types of cancer.Obesity is a global health problem that has reached epidemic levels. The worldwide prevalence of adult obesity is 13 percent of adults and 7 percent of children. The author explains how body mass index (BMI) can be used to screen for obesity, but that its diagnosis depends on clinical measurement of total body fat content and distribution. The book describes rare forms of obesity caused by a single gene or a genetic syndrome, and common obesity, a complex disease caused by multiple genetic and environmental risk factors. The book presents examples of obesity susceptibility genes and describes obesity genetic testing. It details how obesity can usually be treated with dietary changes, increased physical activity, and behavioral modification, but that people with extreme obesity or those who have serious health complications, require pharmaceutical or surgical interventions. Dr. Eckdahl discusses promising prospects for the treatment of obesity involving new pharmaceuticals, stem cell therapy, gene therapy, and fecal microbiota transplants.