000			04832cam a2200397 i 4500
001			on1296426222
003			OCoLC
005			20240726104848.0
008			220212s2022 nyu o 000 0 eng d
040			_aEBLCP _beng _erda _epn _cEBLCP _dYDX _dOCLCQ _dNT
020			_a9781685075934 _q((electronic)l(electronic)ctronic)
050	0	4	_aRJ506 _b.F734 2022
049			_aMAIN
245	1	0	_aFragile X Syndrome : _bfrom diagnosis to treatment / _cFabrizio Stasolla, editor.
260			_aNew York : _bNova Science Publishers, Incorporated, _c(c)2022.
300			_a1 online resource (182 pages)
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_adata file _2rda
490	0		_aGenetics. Research and issues
504			_a2
505	0	0	_aFragile X Syndrome : pathological mechanisms and molecular bases / _rMónica 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 -- _tFragile X Syndrome : common neuropsychiatric associations / _rSilvina Tonarelli and Zarin Akhter, Psychiatry Department, Texas Tech University Health Science Center, El Paso, Texas, USA, and others -- _tPharmacotherapy of Fragile X Syndrome / _rMaria Jimena Salcedo-Arellano, Ramkumar Aishworiya, Randi Hagerman, Dragana Protic -- _tMedical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA, and others.
520	0		_a"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"-- _cProvided by publisher
530			_a2 _ub
650		0	_aFragile X syndrome.
650		0	_aFragile X syndrome _xDiagnosis.
650		0	_aFragile X syndrome _xTreatment.
650		0	_aFragile X syndrome _xGenetic aspects.
655		1	_aElectronic Books.
700	1		_aStasolla, Fabrizio, _e5
856	4	0	_zClick to access digital title | log in using your CIU ID number and my.ciu.edu password. _uhttpss://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&db=nlabk&AN=3146812&site=eds-live&custid=s3260518
942			_cOB _D _eEB _hRJ. _m2022 _QOL _R _x _8NFIC _2LOC
994			_a92 _bNT
999			_c80877 _d80877
902			_a1 _bCynthia Snell _c1 _dCynthia Snell