Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

被引：42

作者：

Adang, Laura A. ^{[1
,37
]}

Sherbini, Omar ^{[1
]}

Ball, Laura ^{[2
,8
]}

Bloom, Miriam ^{[3
]}

Darbari, Anil ^{[4
]}

Amartino, Hernan ^{[5
]}

DiVito, Donna ^{[1
]}

Eichler, Florian ^{[6
]}

Escolar, Maria ^{[7
]}

Evans, Sarah H. ^{[2
,8
]}

Fatemi, Ali ^{[9
]}

Fraser, Jamie ^{[10
]}

Hollowell, Leslie ^{[11
]}

Jaffe, Nicole ^{[12
]}

Joseph, Christopher ^{[9
]}

Karpinski, Mary ^{[13
]}

Keller, Stephanie ^{[14
]}

Maddock, Ryan ^{[3
]}

Mancilla, Edna ^{[15
,37
]}

McClary, Bruce ^{[9
]}

Mertz, Jana ^{[16
]}

Morgart, Kiley ^{[17
]}

Langan, Thomas ^{[18
]}

Leventer, Richard ^{[19
]}

Parikh, Sumit ^{[20
]}

Pizzino, Amy ^{[1
]}

Prange, Erin ^{[1
]}

Renaud, Deborah L. ^{[21
,22
]}

Rizzo, William ^{[23
]}

Shapiro, Jay ^{[9
]}

Suhr, Dean ^{[24
]}

Suhr, Teryn ^{[24
]}

Tonduti, Davide ^{[25
]}

Waggoner, Jacque ^{[26
]}

Waldman, Amy ^{[1
]}

Wolf, Nicole I. ^{[27
,28
]}

Zerem, Ayelet ^{[29
]}

Bonkowsky, Joshua L. ^{[30
]}

Bernard, Genevieve ^{[31
,32
,33
,34
]}

van Haren, Keith ^{[35
,36
]}

Vanderver, Adeline ^{[1
,2
,37
]}

机构：

[1] Childrens Hosp Philadelphia, Div Neurol, Off 516H,3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[2] Childrens Natl Med Ctr, Ctr Translat Sci, Washington, DC 20010 USA

[3] Childrens Natl Med Ctr, Dept Pediat, Washington, DC 20010 USA

[4] Childrens Natl Med Ctr, Dept Pediat Gastroenterol Hepatol & Nutr, Washington, DC 20010 USA

[5] Hosp Univ Austral, Serv Neurol Infantil, Buenos Aires, DF, Argentina

[6] Harvard Med Sch, Massachusetts Gen Hosp, Dept Neurol, Boston, MA USA

[7] Univ Pittsburgh, Childrens Hosp Pittsburgh, Med Ctr, Dept Pediat, Pittsburgh, PA 15213 USA

[8] Childrens Natl Med Ctr, Dept Phys Med & Rehabil, Washington, DC 20010 USA

[9] Kennedy Krieger Inst, Hugo W Moser Res Inst, Baltimore, MD USA

[10] Childrens Natl Med Ctr, Rare Dis Inst, Washington, DC 20010 USA

[11] Childrens Natl Med Ctr, Complex Care Program, Washington, DC 20010 USA

[12] Childrens Hosp Philadelphia, Dept Pediat, Off 516H,3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[13] Women & Childrens Hosp, Pediat Multiple Sclerosis Ctr, Buffalo, NY USA

[14] Emory Univ, Div Pediat Neurol, Atlanta, GA 30322 USA

[15] Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Off 516H,3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA

[16] Women & Childrens Hosp, Autism Spectrum Disorders Ctr, Buffalo, NY USA

[17] Kennedy Krieger Inst, Psychiat Social Work Program, Baltimore, MD USA

[18] Hunter James Kelly Res Inst, Buffalo, NY USA

[19] Univ Melbourne, Murdoch Childrens Res Inst, Dept Paediat, Melbourne, Vic, Australia

[20] Cleveland Clin, Neurol Inst, Neurogenet, Cleveland, OH 44106 USA

[21] Mayo Clin, Div Child & Adolescent Neurol, Dept Neurol, Rochester, MN USA

[22] Mayo Clin, Dept Pediat, Rochester, MN USA

[23] Univ Nebraska Med Ctr, Dept Pediat, Omaha, NE USA

[24] MLD Fdn, West Linn, OR USA

[25] Fdn IRCCS Ist Neurol Carlo Besta, Dept Child Neurol, Milan, Italy

[26] Hunters Hope Fdn, Orchard Pk, NY USA

[27] Vrije Univ Amsterdam, Med Ctr, Dept Child Neurol, Amsterdam, Netherlands

[28] Amsterdam Neurosci, Amsterdam, Netherlands

[29] E Wolfson Med Ctr, Tel Aviv, Israel

[30] Univ Utah, Sch Med, Dept Pediat, Div Pediat Neurol, Salt Lake City, UT USA

[31] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada

[32] McGill Univ, Dept Pediat, Montreal, PQ, Canada

[33] McGill Univ, Ctr Hlth, Montreal Childrens Hosp, Dept Med Genet, Montreal, PQ, Canada

[34] McGill Univ, Ctr Hlth, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada

[35] Lucile Packard Childrens Hosp, Dept Neurol, Stanford, CA USA

[36] Stanford Univ, Sch Med, Stanford, CA USA

[37] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2017年 / 122卷 / 1-2期

基金：

美国国家卫生研究院;

关键词：

Leukodystrophy; Consensus; Therapy; Care; Outcomes; Prevention; ALTERNATIVE COMMUNICATION INTERVENTION; SELECTIVE DORSAL RHIZOTOMY; PEDIATRIC PALLIATIVE CARE; GROSS MOTOR FUNCTION; CEREBRAL-PALSY; CEREBROTENDINOUS XANTHOMATOSIS; METACHROMATIC LEUKODYSTROPHY; GASTROESOPHAGEAL-REFLUX; CLASSIFICATION-SYSTEM; INTRATHECAL BACLOFEN;

D O I：

10.1016/j.ymgme.2017.08.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can complement efforts directed at curative therapies. Contained within this report is a systems-based approach to management of complications that result from leukodystrophies. We discuss the initial evaluation, identification of common medical issues, and management options to establish a comprehensive, standardized care approach. We will also address clinical topics relevant to select leukodyatrophies, such as gallbladder pathology and adrenal insufficiency. The recommendations within this review rely on existing studies and consensus opinions and underscore the need for future research on evidence-based outcomes to better treat the manifestations of this unique set of genetic disorders.

引用

页码：18 / 32

页数：15

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