Fragile X Syndrome: From Diagnosis to Treatment

Fragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene. It is commonly described as one of the most common genetic diseases with autism-like behaviors and related developmental disabilities. Diagnosis is based on laboratory tests and DNA results, and phenotypes include long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviors. Early interventions are highly encouraging and recommended, and pharmacological treatments may be combined with behavioral and/or cognitive behavioral interventions. Assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome.

Format: Paperback / softback
Length: 179 pages
Publication date: 08 February 2022
Publisher: Nova Science Publishers Inc

Fragile X syndrome is a hereditary disorder brought on by an abnormal length of the FMR protein caused by mutations in the FMR1 gene on the X chromosome. It is frequently referred to as one of the most prevalent genetic disorders with autism-like behaviors and associated developmental impairments. In addition to intellectual delays, behavioral issues, and communication problems, mood disorders often occur. Laboratory tests and DNA findings are used to make a diagnosis. Long and narrow faces, big ears, hyper-arched palates, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviors are frequently seen phenotypes. Although there is no known treatment, early interventions are highly encouraging, promising, and recommended. Pharmacological treatments may be combined with behavioral and/or cognitive behavioral interventions. Recently, assistive technology-based programs have been implemented. This volume includes seven chapters and addresses the newest advances in the diagnosis and treatment of individuals with Fragile X syndrome. Chapter One encompasses the molecular features and pathological bases of the disease. A comprehensive literature overview was conducted. The role of the FMR protein was emphasized although few studies evaluated its function. Chapter Two deals with the neuropsychiatric symptoms related to the syndrome. A complete conceptual framework was exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review was carried out. Clinical relevance was outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development was described. Challenging behaviors were included and the importance of the early combine.

ISBN-13: 9781685075729