메뉴 건너뛰기




Volumn 62, Issue 3, 2015, Pages 607-618

Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics. Rare Disorders Can Pave the Way for Targeted Treatments.

Author keywords

Autism spectrum disorders; Chromosomal microarray; Copy number variants; Genetics; Neurodevelopmental disorders; Whole exome sequencing

Indexed keywords

ARIPIPRAZOLE; REGULATOR PROTEIN; RISPERIDONE; TUBERIN; TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN; UNCLASSIFIED DRUG;

EID: 84929954397     PISSN: 00313955     EISSN: 15578240     Source Type: Journal    
DOI: 10.1016/j.pcl.2015.03.003     Document Type: Review
Times cited : (26)

References (43)
  • 2
    • 84877927773 scopus 로고    scopus 로고
    • Brief report: comparability of DSM-IV and DSM-5 ASD research samples
    • Mazefsky C.A., McPartland J.C., Gastgeb H.Z., et al. Brief report: comparability of DSM-IV and DSM-5 ASD research samples. J Autism Dev Disord 2013, 43:1236-1242.
    • (2013) J Autism Dev Disord , vol.43 , pp. 1236-1242
    • Mazefsky, C.A.1    McPartland, J.C.2    Gastgeb, H.Z.3
  • 3
    • 84859104997 scopus 로고    scopus 로고
    • Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder
    • McPartland J.C., Reichow B., Volkmar F.R. Sensitivity and specificity of proposed DSM-5 diagnostic criteria for autism spectrum disorder. J Am Acad Child Adolesc Psychiatry 2012, 51:368-383.
    • (2012) J Am Acad Child Adolesc Psychiatry , vol.51 , pp. 368-383
    • McPartland, J.C.1    Reichow, B.2    Volkmar, F.R.3
  • 4
    • 67049118065 scopus 로고    scopus 로고
    • Epidemiology of pervasive developmental disorders
    • Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 2009, 65:591-598.
    • (2009) Pediatr Res , vol.65 , pp. 591-598
    • Fombonne, E.1
  • 5
    • 79960758628 scopus 로고    scopus 로고
    • Sex differences in cognitive domains and their clinical correlates in higher-functioning autism spectrum disorders
    • Bolte S., Duketis E., Poustka F., et al. Sex differences in cognitive domains and their clinical correlates in higher-functioning autism spectrum disorders. Autism 2011, 15:497-511.
    • (2011) Autism , vol.15 , pp. 497-511
    • Bolte, S.1    Duketis, E.2    Poustka, F.3
  • 6
    • 80053629958 scopus 로고    scopus 로고
    • The effects of gender and age on repetitive and/or restricted behaviors and interests in adults with autism spectrum disorders and intellectual disability
    • Hattier M.A., Matson J.L., Tureck K., et al. The effects of gender and age on repetitive and/or restricted behaviors and interests in adults with autism spectrum disorders and intellectual disability. Res Dev Disabil 2011, 32:2346-2351.
    • (2011) Res Dev Disabil , vol.32 , pp. 2346-2351
    • Hattier, M.A.1    Matson, J.L.2    Tureck, K.3
  • 7
    • 83755163060 scopus 로고    scopus 로고
    • Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability
    • Szatmari P., Liu X.Q., Goldberg J., et al. Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability. Am J Med Genet B Neuropsychiatr Genet 2012, 159B:5-12.
    • (2012) Am J Med Genet B Neuropsychiatr Genet , vol.159B , pp. 5-12
    • Szatmari, P.1    Liu, X.Q.2    Goldberg, J.3
  • 8
    • 84864375928 scopus 로고    scopus 로고
    • How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?
    • Dworzynski K., Ronald A., Bolton P., et al. How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders?. J Am Acad Child Adolesc Psychiatry 2012, 51:788-797.
    • (2012) J Am Acad Child Adolesc Psychiatry , vol.51 , pp. 788-797
    • Dworzynski, K.1    Ronald, A.2    Bolton, P.3
  • 9
    • 84858862148 scopus 로고    scopus 로고
    • Autism symptoms and internalizing psychopathology in girls and boys with autism spectrum disorders
    • Solomon M., Miller M., Taylor S.L., et al. Autism symptoms and internalizing psychopathology in girls and boys with autism spectrum disorders. J Autism Dev Disord 2012, 42:48-59.
    • (2012) J Autism Dev Disord , vol.42 , pp. 48-59
    • Solomon, M.1    Miller, M.2    Taylor, S.L.3
  • 10
    • 33745818375 scopus 로고    scopus 로고
    • Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the special needs and autism project (SNAP)
    • Baird G., Simonoff E., Pickles A., et al. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the special needs and autism project (SNAP). Lancet 2006, 368:210-215.
    • (2006) Lancet , vol.368 , pp. 210-215
    • Baird, G.1    Simonoff, E.2    Pickles, A.3
  • 11
    • 84890786478 scopus 로고    scopus 로고
    • Assessing the minimally verbal school-aged child with autism spectrum disorder
    • Kasari C., Brady N., Lord C., et al. Assessing the minimally verbal school-aged child with autism spectrum disorder. Autism Res 2013, 6:479-493.
    • (2013) Autism Res , vol.6 , pp. 479-493
    • Kasari, C.1    Brady, N.2    Lord, C.3
  • 13
    • 80052366179 scopus 로고    scopus 로고
    • Recurrence risk for autism spectrum disorders: a baby siblings research consortium study
    • Ozonoff S., Young G.S., Carter A., et al. Recurrence risk for autism spectrum disorders: a baby siblings research consortium study. Pediatrics 2011, 128:e488-e495.
    • (2011) Pediatrics , vol.128 , pp. e488-e495
    • Ozonoff, S.1    Young, G.S.2    Carter, A.3
  • 15
    • 77949342177 scopus 로고    scopus 로고
    • Advances in the early detection of autism
    • Zwaigenbaum L. Advances in the early detection of autism. Curr Opin Neurol 2010, 23:97-102.
    • (2010) Curr Opin Neurol , vol.23 , pp. 97-102
    • Zwaigenbaum, L.1
  • 16
    • 84860712363 scopus 로고    scopus 로고
    • Patterns and rates of exonic de novo mutations in autism spectrum disorders
    • Neale B.M., Kou Y., Liu L., et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012, 485:242-245.
    • (2012) Nature , vol.485 , pp. 242-245
    • Neale, B.M.1    Kou, Y.2    Liu, L.3
  • 17
    • 84860741138 scopus 로고    scopus 로고
    • Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
    • O'Roak B.J., Vives L., Girirajan S., et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
    • (2012) Nature , vol.485 , pp. 246-250
    • O'Roak, B.J.1    Vives, L.2    Girirajan, S.3
  • 18
    • 84858434210 scopus 로고    scopus 로고
    • CNVs: harbingers of a rare variant revolution in psychiatric genetics
    • Malhotra D., Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 2012, 148:1223-1241.
    • (2012) Cell , vol.148 , pp. 1223-1241
    • Malhotra, D.1    Sebat, J.2
  • 19
    • 84871173898 scopus 로고    scopus 로고
    • The genetics of autism spectrum disorders-a guide for clinicians
    • Heil K.M., Schaaf C.P. The genetics of autism spectrum disorders-a guide for clinicians. Curr Psychiatry Rep 2013, 15:334.
    • (2013) Curr Psychiatry Rep , vol.15 , pp. 334
    • Heil, K.M.1    Schaaf, C.P.2
  • 20
    • 84860780495 scopus 로고    scopus 로고
    • De novo mutations revealed by whole-exome sequencing are strongly associated with autism
    • Sanders S.J., Murtha M.T., Gupta A.R., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
    • (2012) Nature , vol.485 , pp. 237-241
    • Sanders, S.J.1    Murtha, M.T.2    Gupta, A.R.3
  • 21
    • 84872696957 scopus 로고    scopus 로고
    • Using whole-exome sequencing to identify inherited causes of autism
    • Yu T.W., Chahrour M.H., Coulter M.E., et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013, 77:259-273.
    • (2013) Neuron , vol.77 , pp. 259-273
    • Yu, T.W.1    Chahrour, M.H.2    Coulter, M.E.3
  • 22
    • 84892799819 scopus 로고    scopus 로고
    • The role of de novo mutations in the genetics of autism spectrum disorders
    • Ronemus M., Iossifov I., Levy D., et al. The role of de novo mutations in the genetics of autism spectrum disorders. Nat Rev Genet 2014, 15:133-141.
    • (2014) Nat Rev Genet , vol.15 , pp. 133-141
    • Ronemus, M.1    Iossifov, I.2    Levy, D.3
  • 23
    • 84899918742 scopus 로고    scopus 로고
    • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
    • Pinto D., Delaby E., Merico D., et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 2014, 94:677-694.
    • (2014) Am J Hum Genet , vol.94 , pp. 677-694
    • Pinto, D.1    Delaby, E.2    Merico, D.3
  • 24
    • 0033837083 scopus 로고    scopus 로고
    • Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society
    • Filipek P.A., Accardo P.J., Ashwal S., et al. Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 2000, 55:468-479.
    • (2000) Neurology , vol.55 , pp. 468-479
    • Filipek, P.A.1    Accardo, P.J.2    Ashwal, S.3
  • 25
    • 84877264570 scopus 로고    scopus 로고
    • Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
    • Schaefer G.B., Mendelsohn N.J. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med 2013, 15:399-407.
    • (2013) Genet Med , vol.15 , pp. 399-407
    • Schaefer, G.B.1    Mendelsohn, N.J.2
  • 26
    • 75749137647 scopus 로고    scopus 로고
    • EEG abnormalities and epilepsy in autistic spectrum disorders: clinical and familial correlates
    • Ekinci O., Arman A.R., Isik U., et al. EEG abnormalities and epilepsy in autistic spectrum disorders: clinical and familial correlates. Epilepsy Behav 2010, 17:178-182.
    • (2010) Epilepsy Behav , vol.17 , pp. 178-182
    • Ekinci, O.1    Arman, A.R.2    Isik, U.3
  • 27
    • 66749187786 scopus 로고    scopus 로고
    • The role of epilepsy and epileptiform EEGs in autism spectrum disorders
    • Spence S.J., Schneider M.T. The role of epilepsy and epileptiform EEGs in autism spectrum disorders. Pediatr Res 2009, 65:599-606.
    • (2009) Pediatr Res , vol.65 , pp. 599-606
    • Spence, S.J.1    Schneider, M.T.2
  • 28
    • 84879815961 scopus 로고    scopus 로고
    • Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy
    • Viscidi E.W., Triche E.W., Pescosolido M.F., et al. Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsy. PLoS One 2013, 8:e67797.
    • (2013) PLoS One , vol.8 , pp. e67797
    • Viscidi, E.W.1    Triche, E.W.2    Pescosolido, M.F.3
  • 29
    • 84860297457 scopus 로고    scopus 로고
    • De novo gene disruptions in children on the autistic spectrum
    • Iossifov I., Ronemus M., Levy D., et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
    • (2012) Neuron , vol.74 , pp. 285-299
    • Iossifov, I.1    Ronemus, M.2    Levy, D.3
  • 30
    • 84890152849 scopus 로고    scopus 로고
    • The genetic landscape of autism spectrum disorders
    • Rosti R.O., Sadek A.A., Vaux K.K., et al. The genetic landscape of autism spectrum disorders. Dev Med Child Neurol 2014, 56:12-18.
    • (2014) Dev Med Child Neurol , vol.56 , pp. 12-18
    • Rosti, R.O.1    Sadek, A.A.2    Vaux, K.K.3
  • 31
    • 84903957989 scopus 로고    scopus 로고
    • Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex
    • Jeste S.S., Wu J.Y., Senturk D., et al. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology 2014, 83:160-168.
    • (2014) Neurology , vol.83 , pp. 160-168
    • Jeste, S.S.1    Wu, J.Y.2    Senturk, D.3
  • 33
    • 77952909655 scopus 로고    scopus 로고
    • Behavioral treatments in autism spectrum disorder: what do we know?
    • Vismara L.A., Rogers S.J. Behavioral treatments in autism spectrum disorder: what do we know?. Annu Rev Clin Psychol 2010, 6:447-468.
    • (2010) Annu Rev Clin Psychol , vol.6 , pp. 447-468
    • Vismara, L.A.1    Rogers, S.J.2
  • 34
    • 0016225478 scopus 로고
    • A behavior modification approach to the treatment of autistic children
    • Lovaas O.I., Schreibman L., Koegel R.L. A behavior modification approach to the treatment of autistic children. J Autism Child Schizophr 1974, 4:111-129.
    • (1974) J Autism Child Schizophr , vol.4 , pp. 111-129
    • Lovaas, O.I.1    Schreibman, L.2    Koegel, R.L.3
  • 35
    • 84893157438 scopus 로고    scopus 로고
    • Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder
    • Volkmar F., Siegel M., Woodbury-Smith M., et al. Practice parameter for the assessment and treatment of children and adolescents with autism spectrum disorder. J Am Acad Child Adolesc Psychiatry 2014, 53:237-257.
    • (2014) J Am Acad Child Adolesc Psychiatry , vol.53 , pp. 237-257
    • Volkmar, F.1    Siegel, M.2    Woodbury-Smith, M.3
  • 36
    • 84872681250 scopus 로고    scopus 로고
    • Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice
    • Tsai P.T., Greene-Colozzi E., Goto J., et al. Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet 2013, 43:51-59.
    • (2013) Behav Genet , vol.43 , pp. 51-59
    • Tsai, P.T.1    Greene-Colozzi, E.2    Goto, J.3
  • 37
    • 49149088555 scopus 로고    scopus 로고
    • Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis
    • Ehninger D., Han S., Shilyansky C., et al. Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis. Nat Med 2008, 14:843-848.
    • (2008) Nat Med , vol.14 , pp. 843-848
    • Ehninger, D.1    Han, S.2    Shilyansky, C.3
  • 38
    • 84881123154 scopus 로고    scopus 로고
    • Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations
    • Jozwiak J., Sontowska I., Ploski R. Frequency of TSC1 and TSC2 mutations in American, British, Polish and Taiwanese populations. Mol Med Rep 2013, 8:909-913.
    • (2013) Mol Med Rep , vol.8 , pp. 909-913
    • Jozwiak, J.1    Sontowska, I.2    Ploski, R.3
  • 39
    • 84868200593 scopus 로고    scopus 로고
    • Targeted treatment trials for tuberous sclerosis and autism: no longer a dream
    • Sahin M. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream. Curr Opin Neurobiol 2012, 22:895-901.
    • (2012) Curr Opin Neurobiol , vol.22 , pp. 895-901
    • Sahin, M.1
  • 40
    • 84882269902 scopus 로고    scopus 로고
    • The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG Signature
    • Urraca N., Cleary J., Brewer V., et al. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG Signature. Autism Res 2013, 6:268-279.
    • (2013) Autism Res , vol.6 , pp. 268-279
    • Urraca, N.1    Cleary, J.2    Brewer, V.3
  • 41
    • 58149237890 scopus 로고    scopus 로고
    • The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
    • Battaglia A. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis 2008, 3:30.
    • (2008) Orphanet J Rare Dis , vol.3 , pp. 30
    • Battaglia, A.1
  • 42
    • 0036263937 scopus 로고    scopus 로고
    • Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex
    • Bolton P.F., Park R.J., Higgins J.N., et al. Neuro-epileptic determinants of autism spectrum disorders in tuberous sclerosis complex. Brain 2002, 125:1247-1255.
    • (2002) Brain , vol.125 , pp. 1247-1255
    • Bolton, P.F.1    Park, R.J.2    Higgins, J.N.3
  • 43
    • 84896323149 scopus 로고    scopus 로고
    • A survey of seizures and current treatments in 15q duplication syndrome
    • Conant K.D., Finucane B., Cleary N., et al. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia 2014, 55:396-402.
    • (2014) Epilepsia , vol.55 , pp. 396-402
    • Conant, K.D.1    Finucane, B.2    Cleary, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.