Genetic Counseling for Adult Neurogenetic Disease: A Casebook for Clinicians

325 Pages·2015·3.08 MB·English

by  Jill S. Goldman (eds.)

Jill S. Goldman Editor
Genetic Counseling
for Adult
Neurogenetic
Disease
A Casebook for Clinicians
Genetic Counseling for Adult Neurogenetic Disease
.
Jill S. Goldman
Editor
Genetic Counseling for Adult
Neurogenetic Disease
A Casebook for Clinicians
Editor
JillS.Goldman
TaubInstitute
ColumbiaUniversityMedicalCenter
NewYork,NY
USA
Videostothisbookcanbeaccessedathttp://www.springerimages.com/videos/978-1-
4899-7481-5
ISBN978-1-4899-7481-5 ISBN978-1-4899-7482-2(eBook)
DOI10.1007/978-1-4899-7482-2
SpringerNewYorkHeidelbergDordrechtLondon
LibraryofCongressControlNumber:2014952454
©SpringerScience+BusinessMediaNewYork2015
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This book would never have been conceived
or written without the encouragement of my
husband, Lee Goldman. Not only is he a role
modelforme,buttheimpetusandsupportfor
myprofessionalgrowth.I,therefore,dedicate
this book to Lee and to our children—Jeff,
Daniel, and Robyn and their spouses, Abbey
and Tobin, who also provided unending and
unconditional support while listening to me
complain.
.
Accompanying Video
Thevideoclipsthataccompanythisbookfeatureaspectsofgeneticcounselingfor
several oftheneurogenetic conditionsdiscussedinthebook. Please refer tothese
videoclipsasappropriate.Dr.Sampson’sfullneurologicalexaminationmaybeof
particularinterestforgeneticcounselorswhohavenotbeenexposedtoneurology.
Thevideoclipsincludebothsegmentsofactualgeneticcounselingsessionsand
counseling simulations. The clips intend to show some of the unique aspects of
counselingforthesediseases.Wecoverdiagnosticgenetictesting,presymptomatic
testing, return of results, impact of testing on family members, genetic research
studies, reproductive counseling, and treatment and management. Additionally, a
videoclipdemonstratestheneurologicalexamination.Becauseoflimitedaccessto
patients,wecouldnotfilmeverydiseasediscussedinthisbook.
Participantsinthevideo:
JillS.Goldman,M.S.,M.Phil.,C.G.C.
JacindaB.Sampson,M.D.,Ph.D.
AshleyL.Wilson,M.S.,C.G.C.
MeganTruittCho,Sc.M.,C.G.C.
SarahE.Teed
KaraAnsett
Graciouspatients
vii
.
Preface
Adultneurogeneticdiseaseisarapidlyexpandingspecialty.Fewgeneticcounsel-
ing training programs are able to provide the clinical experience necessary to
understand the intricacies of counseling for these diverse diseases. Likewise few
neurologytrainingprogramsprovideexperienceingeneticcounseling.Thegoalof
this book is to introduce genetic counselors, neurologists, and other health pro-
fessionals providing counseling for patients with neurogenetic disease to some of
the issues that transpire during counseling sessions for these diseases. We have
chosentofocusonadultconditionsbecausegeneticcounselingstudentshavemuch
moreexposuretopediatricdiseaseandbecausetheseconditionsraiseverydifferent
problems.Althoughweprovideanoverviewofeach condition’ssymptoms, diag-
nosis, management, and genetics, our focus is on the counseling. In part, this is
because the field is changing so rapidly that genetic information needs continual
updating (and therefore, sources such as GeneReviews and PubMed should be
consulted regularly when seeing these patients) and, in part, because there is a
lackofresourcesaboutgeneticcounselingforthesediseases.Chapter25provides
readers withdescriptionsoftheneurological examinationandneuropsychological
evaluation.Pleaserefertothemasyoumakeyourwaythroughthechapters.
The book is divided by subspecialty areas. We do not attempt to cover every
disease in each area, but rather include those diseases that are more common and
have their own particular counseling complexities. Nevertheless, although these
diseaseshaveuniqueissues,manyaspectsofthecounselingdiscussionscanapply
to all adult neurogenetic disease as well as to other non-neurological genetic
diseases. The accompanying video clips are intended to highlight some of the
uniquefeaturesofthesediseases,includingsymptomsandcounselingissues.
The case histories have been altered to protect confidentiality. However, they
representexperiencesthattheauthorshavefoundtobecompellingandchallenging.
Wehopethattheywillevokediscussionandprovidethereaderwithaninsightinto
adultneurogenetics.
Evenasthisbookwasbeingwritten,availablegenetictestingtechnologieshave
changed and new genes have been discovered. The genes discussed in this book,
thus, represent the more common genetic etiologies known through 2013. Most
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