Genetic Evaluation of Autism

被引:27
作者
Mendelsohn, Nancy J. [1 ]
Schaefer, G. Bradley [2 ]
机构
[1] Childrens Hosp & Clin Minnesota, Div Med Genet, Minneapolis, MN USA
[2] Univ Nebraska Med Ctr, Munroe Meyer Inst Genet & Rehabil, Omaha, NE USA
关键词
D O I
10.1016/j.spen.2008.01.005
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The autism spectrum disorders represent a collective of neurogenetic conditions that have in common altered socialization and communication. Much attention has been given lately to the marked increased in the reported incidence of these conditions. Significant debate also exists as to the basis of the reported increase. Regardless, clinical geneticists and pediatric neurologists alike are seeing a tremendous increase in the number of referrals for autism and related conditions. Continuing advances in genetic testing provide a moving target for the clinician in determining an appropriate diagnostic plan. In this article, we review the most recent advances in genetic testing technology and their potential application to the etiologic evaluation of patients with autism spectrum disorders. Semin Pediatr Neurol 15:27-31 (C) 2008 Elsevier Inc. All rights reserved.
引用
收藏
页码:27 / 31
页数:5
相关论文
共 47 条
[1]
The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders [J].
Abdul-Rahman, OA ;
Hudgins, L .
GENETICS IN MEDICINE, 2006, 8 (01) :50-54
[2]
Alsdorf Rachel, 2005, Expert Opin Drug Saf, V4, P345, DOI 10.1517/14740338.4.2.345
[3]
[Anonymous], 1994, DIAGNOSTIC STAT MANU
[4]
The teratology of autism [J].
Arndt, TL ;
Stodgell, CJ ;
Rodier, PM .
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE, 2005, 23 (2-3) :189-199
[5]
Artigas-Pallares J, 2005, Rev Neurol, V40 Suppl 1, pS151
[6]
Detection of low-level mosaicism by array CGH in routine diagnostic specimens [J].
Balliff, Blake C. ;
Rorem, Emily A. ;
Sundin, Kyle ;
Lincicum, Matt ;
Gaskin, Shannon ;
Coppinger, Justine ;
Kashork, Catherine D. ;
Shaffer, Lisa G. ;
Bejjani, Bassem A. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) :2757-2767
[8]
Etiologic yield of autistic spectrum disorders: A prospective study [J].
Battaglia, A ;
Carey, JC .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2006, 142C (01) :3-7
[9]
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations [J].
Butler, MG ;
Dasouki, MJ ;
Zhou, XP ;
Talebizadeh, Z ;
Brown, M ;
Takahashi, TN ;
Miles, JH ;
Wang, CH ;
Stratton, R ;
Pilarski, R ;
Eng, C .
JOURNAL OF MEDICAL GENETICS, 2005, 42 (04) :318-321
[10]
Identification of MeCP2 mutations in a series of females with autistic disorder [J].
Carney, RM ;
Wolpert, CM ;
Ravan, SA ;
Shahbazian, M ;
Ashley-Koch, A ;
Cuccaro, ML ;
Vance, JM ;
Pericak-Vance, MA .
PEDIATRIC NEUROLOGY, 2003, 28 (03) :205-211