TY  - BOOK
AU  - Stasolla,Fabrizio
TI  - Fragile X Syndrome: from diagnosis to treatment 
T2  - Genetics. Research and issues
SN  - 9781685075934
AV  - RJ506 .F734 2022
PY  - 2022///
CY  - New York
PB  - Nova Science Publishers, Incorporated
KW  - Fragile X syndrome
KW  - Diagnosis
KW  - Treatment
KW  - Genetic aspects
KW  - Electronic Books
N1  - 2; Fragile X Syndrome : pathological mechanisms and molecular bases; Mónica Alejandra Rosales-Reynoso, Anilú Margarita Saucedo-Sariñana, Mariana Pérez-Coria and Patricio Barros-Núñez, División de Medicina Molecular, Centro de Investigación Biomédica deOccidente, CMNO, IMSS, Guadalajara, Jalisco, México, and others --; Fragile X Syndrome : common neuropsychiatric associations; Silvina Tonarelli and Zarin Akhter, Psychiatry Department, Texas Tech University Health Science Center, El Paso, Texas, USA, and others --; Pharmacotherapy of Fragile X Syndrome; Maria Jimena Salcedo-Arellano, Ramkumar Aishworiya, Randi Hagerman, Dragana Protic --; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA, and others; 2; b
N2  - "Fragile X syndrome is an inherited disease caused by an excessive length of the FMR protein due to mutations in the FMR1 gene located on the X chromosome. It is commonly described as one of the most common genetic diseases with autism-like behaviors and related developmental disabilities. Beside intellectual delays, behavioral problems, and communication difficulties, mood disorders usually occur. Diagnosis is based on laboratory tests and DNA results. Phenotypes including long and narrow face, large ears, hyper-arched palate, flat feet, ataxia, seizures, anxiety, aggression, and hand-related stereotypic behaviors are frequently observed. Although there is no specific cure, 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 is exhaustively detailed. Chapter Three emphasizes the role of pharmacotherapy in the treatment of Fragile X syndrome. A further literature review is carried out. Clinical relevance is outlined. Chapter Four provides the reader with a conceptual analysis. Besides molecular features, brain development is described. Challenging behaviors are included and the importance of the early combined intervention is critically discussed. Chapters Five, Six, and Seven detailed three case reports on the effectiveness and the suitability of assistive technology-based interventions. Specifically, Chapter Five argues for microswitch-cluster technology focused on pursuing the dual simultaneous goal of promoting an adaptive response (i.e., object manipulation) and reducing a challenging behavior (i.e., hand mouthing). Chapter Six describes a combined microswitch and VOCA program useful to ensure the participant has the choice between independent access to positive stimulation and asking for social interaction. Finally, Chapter Seven includes choice opportunities through an assistive technology-mediated program involving a boy with Fragile X in a functional task"--
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