Mucopolysaccharidoses (MPS) are a group of rare genetic disorders characterized by the body's inability to properly break down glycosaminoglycans (GAGs), leading to a multitude of physical, cognitive, and psychological challenges. As healthcare providers, caregivers, and families navigate the complexities of these conditions, it becomes increasingly clear that effective treatment must extend beyond physical symptoms to address the emotional and psychological well-being of those affected. In this book, Psychological Support by Cognitive Behavioral Therapy for Mucopolysaccharidoses, I aim to bridge the gap between genetics and psychology, offering a comprehensive resource that integrates Cognitive Behavioral Therapy (CBT) techniques tailored to the unique needs of individuals with MPS and their families. Drawing on a rich foundation of psychological research, clinical experience, and personal insights, this work endeavors to provide practical strategies that promote resilience, enhance coping skills, and foster a deeper understanding of the psychological impact of living with a genetic condition. The topics covered herein are designed to guide readers through the multifaceted aspects of MPS, from understanding the biological and genetic underpinnings to exploring the emotional landscape shaped by trauma and chronic illness. Each chapter delves into essential concepts such as the role of genetic counseling, the principles of CBT, and the importance of personalized therapeutic approaches, equipping readers with the tools needed to navigate their own journeys. I am particularly grateful to the patients, families, and professionals who have shared their experiences and insights, which have profoundly shaped my understanding of the psychological ramifications of MPS. It is my hope that this book not only serves as a practical guide for mental health professionals but also empowers individuals living with MPS to take an active role in their mental health journey. In an era where mental health is increasingly recognized as an integral part of overall well-being, this book aspires to be a beacon of hope and support for those impacted by mucopolysaccharidoses. Together, we can foster a compassionate understanding of the mind-body connection, enabling individuals to navigate their genetic journeys with resilience, dignity, and hope.

Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.

Addressing the major advances in biomedical, psychological, social, and environmental sciences over the past decade, Developmental-Behavioral Pediatrics, 5th Edition, remains the reference of choice for professionals in a wide range of fields, including medicine and health care, education, social service, advocacy, and public policy. This foundational, pioneering resource emphasizes children's assets and liabilities, not just categorical labels. Comprehensive in scope, it offers information and guidance on normal development and behavior, psychosocial, and biologic influences on development, developmental disorders, neurodevelopmental disabilities, and mental health conditions. It also discusses tools and strategies for diagnosis and management, including new assessments that can be used in telehealth encounters. - Offers a highly practical focus, emphasizing clinical approaches to evaluation, counseling, treatment, and ongoing care. - Provides new or expanded information on theoretical foundations of human development and behavior; trauma, adverse childhood events, and resilience across the life span; mechanisms of genetic, epigenetic, and neurological conditions; and principles of psychological assessment, including a broad array of evaluation approaches. - Discusses management and treatment for developmental and behavioral conditions, spanning common factors, cognitive behavior therapies, rehabilitative services, integrative medicine, and psychopharmacology. - Contains up-to-date chapters on celebrating socio-cultural diversity and addressing racism and bias, acute stress and post-traumatic stress disorder in youth, sexuality and variation, and alternatives to restrictive guardianship. - Begins each chapter with a colorful vignette that demonstrates the importance of the human dimensions of developmental-behavioral pediatrics. - Offers viewpoints from an interdisciplinary team of editors and contributors, representing developmental-behavioral pediatrics, general pediatrics, psychiatry, psychology, occupational and physical therapy, speech-language pathology, and law. - Provides the latest drug information in the updated and revised chapters on psychopharmacology. - Includes key points boxes, tables, pictures, and diagrams to clarify and enhance the text.

This book provides a detailed account of intellectual, other neuropsychological and behavioral manifestations of general pediatric diseases. The conditions discussed include the whole range of pediatric diseases - genetic syndromes, other congenital conditions, metabolic, endocrine, gastrointestinal, infectious, immunologic, toxic, trauma, and neoplastic, as well as sensory disabilities including deafness and blindness. Although the book is not intended to discuss cognitive and behavioral manifestations of conditions usually considered to be primary neurological disease, some of those, including cerebral palsy, muscular dystrophy, myotonic dystrophy and epilepsy, are included. Where possible, a "translational" approach is used, linking the behavioral and cognitive manifestations of these conditions, to the underlying structural, chemical or genetic abnormalities and their effect on the brain, and, in turn, on behavior and cognition. At the same time, included are significant psychosocial factors. Together, those factors have a major effect on patients' performance, including school performance, and on their families. This book is unique in its extensive coverage of the major pediatric conditions and of the detailed neurological, neuropsychological and behavioral aspects of each condition.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Developmental and behavioural paediatrics is the assessment of children to ascertain their developmental status. This includes speech and language delay, learning difficulties, Attention Deficit Hyperactivity Disorder (ADHD), and social communication disorders, including Asperger’s Syndrome and Autism. Accurate diagnosis means that children, and their parents, can be given the appropriate support and advice required to ensure the best possible therapy and support (BMI Healthcare). This book is a comprehensive guide to the diagnosis and management of developmental and behavioural disorders in children. Beginning with an introduction to normal development and behaviour, the text then discusses surveillance and screening processes. Each of the following chapters covers a different disorder or syndrome, from Down’s syndrome, neuroregressive disorders and ADHD, to cerebral palsy, selective mutism, visual and hearing impairments, and many more. The final sections discuss therapeutic techniques including pharmacotherapy, counselling, and complementary and alternative medicine. Key points Comprehensive guide to diagnosis and management of developmental and behavioural disorders in children Covers many different disorders and syndromes Includes discussion on medicolegal aspects Features illustrations and figures to enhance learning