The diagnostic journey of genetically defined neurodevelopmental disorders

被引:0
作者
Juliana Simon
Carly Hyde
Vidya Saravanapandian
Rujuta Wilson
Charlotte Distefano
Aaron Besterman
Shafali Jeste
机构
[1] UCLA,
[2] UCSD,undefined
[3] CHLA,undefined
来源
Journal of Neurodevelopmental Disorders | 2022年 / 14卷
关键词
Neurodevelopmental disorders; Genetic testing; Diagnostic journey;
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学科分类号
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[1]  
Morris-Rosendahl DJ(2020)Neurodevelopmental disorders-the history and future of a diagnostic concept Dialogues Clin Neurosci 22 65-72
[2]  
Crocq MA(2011)Genetics of autism spectrum disorders Trends Cogn Sci 15 409-416
[3]  
Geschwind DH(2019)Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders Genet Med 21 2413-2421
[4]  
Srivastava S(2021)Early diagnostics and early intervention in neurodevelopmental disorders—age-dependent challenges and opportunities J Clin Med 10 861-S279
[5]  
Love-Nichols JA(2018)The diagnostic odyssey of autism spectrum disorder Pediatrics. 141 S272-1170
[6]  
Dies KA(2019)Needs assessment in genetic testing education: a survey of parents of children with autism spectrum disorder in the United States Autism Res 12 1162-272
[7]  
Ledbetter DH(2017)Ending a diagnostic odyssey: family education, counseling, and response to eventual diagnosis Pediatr Clin N Am 64 265-707
[8]  
Martin CL(2017)Parents’ attitudes toward clinical genetic testing for autism spectrum disorder—data from a Norwegian sample Int J Mol Sci 18 1078-808
[9]  
Chung WK(2014)Effectiveness of exome and genome sequencing guided by the acuity of illness for diagnosis of neurodevelopmental disorders Sci Transl Med 6 265ra168-1638
[10]  
Hadders-Algra M(2016)Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test Clin Genet 89 700-256