MARC details
| 000 -LEADER |
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| fixed length control field |
04832cam a2200397 i 4500 |
| 001 - CONTROL NUMBER |
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| control field |
on1296426222 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
OCoLC |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20240726104848.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
220212s2022 nyu o 000 0 eng d |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
EBLCP |
| Language of cataloging |
eng |
| Description conventions |
rda |
| -- |
pn |
| Transcribing agency |
EBLCP |
| Modifying agency |
YDX |
| -- |
OCLCQ |
| -- |
NT |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9781685075934 |
| Qualifying information |
|
| 050 04 - LIBRARY OF CONGRESS CALL NUMBER |
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| Classification number |
RJ506 |
| Item number |
.F734 2022 |
| 049 ## - LOCAL HOLDINGS (OCLC) |
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| Holding library |
MAIN |
| 245 10 - TITLE STATEMENT |
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| Title |
Fragile X Syndrome : |
| Remainder of title |
from diagnosis to treatment / |
| Statement of responsibility, etc. |
Fabrizio Stasolla, editor. |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. |
|---|
| Place of publication, distribution, etc. |
New York : |
| Name of publisher, distributor, etc. |
Nova Science Publishers, Incorporated, |
| Date of publication, distribution, etc. |
(c)2022. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
1 online resource (182 pages) |
| 336 ## - CONTENT TYPE |
|---|
| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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| Media type term |
computer |
| Media type code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
|---|
| Carrier type term |
online resource |
| Carrier type code |
cr |
| Source |
rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS |
|---|
| File type |
data file |
| Source |
rda |
| 490 0# - SERIES STATEMENT |
|---|
| Series statement |
Genetics. Research and issues |
| 504 ## - BIBLIOGRAPHY, ETC. NOTE |
|---|
| Bibliography, etc. note |
Includes bibliographies and index. |
| 505 00 - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Fragile X Syndrome : pathological mechanisms and molecular bases / |
| Statement of responsibility |
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 -- |
| Title |
Fragile X Syndrome : common neuropsychiatric associations / |
| Statement of responsibility |
Silvina Tonarelli and Zarin Akhter, Psychiatry Department, Texas Tech University Health Science Center, El Paso, Texas, USA, and others -- |
| Title |
Pharmacotherapy of Fragile X Syndrome / |
| Statement of responsibility |
Maria Jimena Salcedo-Arellano, Ramkumar Aishworiya, Randi Hagerman, Dragana Protic -- |
| Title |
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA, and others. |
| 520 0# - SUMMARY, ETC. |
|---|
| Summary, etc. |
"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"-- |
| Assigning source |
|
| 530 ## - COPYRIGHT INFORMATION: |
|---|
| COPYRIGHT INFORMATION |
COPYRIGHT NOT covered - Click this link to request copyright permission: |
| Uniform Resource Identifier |
<a href="b">b</a> |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Fragile X syndrome. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Fragile X syndrome |
| General subdivision |
Diagnosis. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Fragile X syndrome |
| General subdivision |
Treatment. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Fragile X syndrome |
| General subdivision |
Genetic aspects. |
| 655 #1 - INDEX TERM--GENRE/FORM |
|---|
| Genre/form data or focus term |
Electronic Books. |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Stasolla, Fabrizio, |
| Relator term |
|
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| -- |
Click to access digital title | log in using your CIU ID number and my.ciu.edu password. |
| Uniform Resource Identifier |
<a href="httpss://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&db=nlabk&AN=3146812&site=eds-live&custid=s3260518">httpss://search.ebscohost.com/login.aspx?direct=true&scope=site&db=nlebk&db=nlabk&AN=3146812&site=eds-live&custid=s3260518</a> |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Koha item type |
Online Book (LOGIN USING YOUR MY CIU LOGIN AND PASSWORD) |
| DONATED BY: |
|
| VENDOR |
EBSCO |
| Classification part |
RJ. |
| PUBLICATION YEAR |
2022 |
| LOCATION |
ONLINE |
| REQUESTED BY: |
|
| -- |
|
| -- |
NFIC |
| Source of classification or shelving scheme |
|
| 994 ## - |
|---|
| -- |
92 |
| -- |
NT |
| 902 ## - LOCAL DATA ELEMENT B, LDB (RLIN) |
|---|
| a |
1 |
| b |
Cynthia Snell |
| c |
1 |
| d |
Cynthia Snell |