Genetische Befunde bei Autismus-Spektrum-Störungen

Zurück zum Zitat American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders, 5. Aufl. American Psychiatric Association, Washington (DSM-5)CrossRef American Psychiatric Association (2013) Diagnostic and statistical manual of mental disorders, 5. Aufl. American Psychiatric Association, Washington (DSM-5)CrossRef

Zurück zum Zitat Bartlett CW, Hou L, Flax JF, Hare A, Cheong SY, Fermano Z, Zimmerman-Bier B, Cartwright C, Azaro MA, Buyske S, Brzustowicz LM (2014) A genome scan for loci shared by autism spectrum disorder and language impairment. Am J Psychiatry 171:72–81CrossRefPubMedPubMedCentral Bartlett CW, Hou L, Flax JF, Hare A, Cheong SY, Fermano Z, Zimmerman-Bier B, Cartwright C, Azaro MA, Buyske S, Brzustowicz LM (2014) A genome scan for loci shared by autism spectrum disorder and language impairment. Am J Psychiatry 171:72–81CrossRefPubMedPubMedCentral

Zurück zum Zitat Baxter AJ, Brugha TS, Erskine HE, Scheurer RW, Vos T, Scott JG (2015) The epidemiology and global burden of autism spectrum disorders. Psychol Med 45:601–613CrossRefPubMed Baxter AJ, Brugha TS, Erskine HE, Scheurer RW, Vos T, Scott JG (2015) The epidemiology and global burden of autism spectrum disorders. Psychol Med 45:601–613CrossRefPubMed

Zurück zum Zitat Betancur C (2010) Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. doi:10.1016/j.brainres.2010.11.078 PubMed Betancur C (2010) Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. doi:10.​1016/​j.​brainres.​2010.​11.​078 PubMed

Zurück zum Zitat Bourgeron T (2016) Current knowledge on the genetics of autism and propositions for future research. C R Biol 339:300–307CrossRefPubMed Bourgeron T (2016) Current knowledge on the genetics of autism and propositions for future research. C R Biol 339:300–307CrossRefPubMed

Zurück zum Zitat Brandler WM, Sebat J (2015) From de novo mutations to personalized therapeutic interventions in autism. Annu Rev Med 66:487–507CrossRefPubMed Brandler WM, Sebat J (2015) From de novo mutations to personalized therapeutic interventions in autism. Annu Rev Med 66:487–507CrossRefPubMed

Zurück zum Zitat Bruining H, Eijkemans MJ, Kas MJ, Curran SR, Vorstman JA, Bolton PF (2014) Behavioral signatures related to genetic disorders in autism. Mol Autism 5:11CrossRefPubMedPubMedCentral Bruining H, Eijkemans MJ, Kas MJ, Curran SR, Vorstman JA, Bolton PF (2014) Behavioral signatures related to genetic disorders in autism. Mol Autism 5:11CrossRefPubMedPubMedCentral

Zurück zum Zitat De Rubeis S, Buxbaum JD (2015) Recent advances in the genetics of autism spectrum disorder. Curr Neurol Neurosci Rep 15:36CrossRefPubMed De Rubeis S, Buxbaum JD (2015) Recent advances in the genetics of autism spectrum disorder. Curr Neurol Neurosci Rep 15:36CrossRefPubMed

Zurück zum Zitat De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz GP, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimaki T, Lin CF, Ma’ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstrom K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Ruther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD (2014) Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515:209–215CrossRefPubMedPubMedCentral De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz GP, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimaki T, Lin CF, Ma’ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstrom K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Ruther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD (2014) Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515:209–215CrossRefPubMedPubMedCentral

Zurück zum Zitat Devlin B, Melhem N, Roeder K (2011) Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res 1380:78–84CrossRefPubMed Devlin B, Melhem N, Roeder K (2011) Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res 1380:78–84CrossRefPubMed

Zurück zum Zitat Durkin MS, Maenner MJ, Newschaffer CJ, Lee LC, Cunniff CM, Daniels JL, Kirby RS, Leavitt L, Miller L, Zahorodny W, Schieve LA (2008) Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol 168(11):1268–1276CrossRefPubMedPubMedCentral Durkin MS, Maenner MJ, Newschaffer CJ, Lee LC, Cunniff CM, Daniels JL, Kirby RS, Leavitt L, Miller L, Zahorodny W, Schieve LA (2008) Advanced parental age and the risk of autism spectrum disorder. Am J Epidemiol 168(11):1268–1276CrossRefPubMedPubMedCentral

Zurück zum Zitat Freitag CM (2014) Autismus-Spektrum Störung nach DSM-5. Z Kinder Jugendpsychiatr Psychother 42:185–192CrossRefPubMed Freitag CM (2014) Autismus-Spektrum Störung nach DSM-5. Z Kinder Jugendpsychiatr Psychother 42:185–192CrossRefPubMed

Zurück zum Zitat Freitag CM, Staal W, Klauck SM, Duketis E, Waltes R (2010) Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 19:169–178CrossRefPubMed Freitag CM, Staal W, Klauck SM, Duketis E, Waltes R (2010) Genetics of autistic disorders: review and clinical implications. Eur Child Adolesc Psychiatry 19:169–178CrossRefPubMed

Zurück zum Zitat Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JD (2014) Most genetic risk for autism resides with common variation. Nat Genet 46:881–885CrossRefPubMedPubMedCentral Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, Mahajan M, Manaa D, Pawitan Y, Reichert J, Ripke S, Sandin S, Sklar P, Svantesson O, Reichenberg A, Hultman CM, Devlin B, Roeder K, Buxbaum JD (2014) Most genetic risk for autism resides with common variation. Nat Genet 46:881–885CrossRefPubMedPubMedCentral

Zurück zum Zitat Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG (2016) Novel features of 3q29 deletion syndrome: results from the 3q29 registry. Am J Med Genet A 170A:999–1006CrossRefPubMed Glassford MR, Rosenfeld JA, Freedman AA, Zwick ME, Mulle JG (2016) Novel features of 3q29 deletion syndrome: results from the 3q29 registry. Am J Med Genet A 170A:999–1006CrossRefPubMed

Zurück zum Zitat Green SL, D’Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E (2016) Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication. J Autism Dev Disord 46:2734–2748CrossRef Green SL, D’Angelo D, Chen Q, Bernier R, Goin-Kochel RP, Wallace AS, Gerdts J, Kanne S, Berry L, Blaskey L, Kuschner E, Roberts T, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK, Hanson E (2016) Autism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication. J Autism Dev Disord 46:2734–2748CrossRef

Zurück zum Zitat Hoeffding LK, Trabjerg BB, Olsen L, Mazin W, Sparso T, Vangkilde A, Mortensen PB, Pedersen CB, Werge T (2017) Risk of psychiatric disorders among individuals with the 22q11.2 deletion or duplication: a danish nationwide, register-based study. JAMA Psychiatry 74:282–290CrossRefPubMed Hoeffding LK, Trabjerg BB, Olsen L, Mazin W, Sparso T, Vangkilde A, Mortensen PB, Pedersen CB, Werge T (2017) Risk of psychiatric disorders among individuals with the 22q11.2 deletion or duplication: a danish nationwide, register-based study. JAMA Psychiatry 74:282–290CrossRefPubMed

Zurück zum Zitat Hoffmann TJ, Windham GC, Anderson M, Croen LA, Grether JK, Risch N (2014) Evidence of reproductive stoppage in families with autism spectrum disorder: a large, population-based cohort study. JAMA Psychiatry 71:943–951CrossRefPubMed Hoffmann TJ, Windham GC, Anderson M, Croen LA, Grether JK, Risch N (2014) Evidence of reproductive stoppage in families with autism spectrum disorder: a large, population-based cohort study. JAMA Psychiatry 71:943–951CrossRefPubMed

Zurück zum Zitat Jeste SS, Geschwind DH (2014) Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol 10:74–81CrossRefPubMedPubMedCentral Jeste SS, Geschwind DH (2014) Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol 10:74–81CrossRefPubMedPubMedCentral

Zurück zum Zitat Lundstrom S, Reichenberg A, Anckarsater H, Lichtenstein P, Gillberg C (2015) Autism phenotype versus registered diagnosis in Swedish children: prevalence trends over 10 years in general population samples. BMJ 350:h1961CrossRefPubMedPubMedCentral Lundstrom S, Reichenberg A, Anckarsater H, Lichtenstein P, Gillberg C (2015) Autism phenotype versus registered diagnosis in Swedish children: prevalence trends over 10 years in general population samples. BMJ 350:h1961CrossRefPubMedPubMedCentral

Zurück zum Zitat Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR, Woodruff-Borden J, Morris CA, Osborne LR (2015) Children with 7q11.23 duplication syndrome: psychological characteristics. Am J Med Genet A 167:1436–1450CrossRefPubMedPubMedCentral Mervis CB, Klein-Tasman BP, Huffman MJ, Velleman SL, Pitts CH, Henderson DR, Woodruff-Borden J, Morris CA, Osborne LR (2015) Children with 7q11.23 duplication syndrome: psychological characteristics. Am J Med Genet A 167:1436–1450CrossRefPubMedPubMedCentral

Zurück zum Zitat Nippert RP, Schmidtke J (2012) Quality of genetic services – analysis of medical genetic expert opinions solicited by private health insurance companies. Z Evid Fortbild Qual Gesundhwes 106:217–223CrossRefPubMed Nippert RP, Schmidtke J (2012) Quality of genetic services – analysis of medical genetic expert opinions solicited by private health insurance companies. Z Evid Fortbild Qual Gesundhwes 106:217–223CrossRefPubMed

Zurück zum Zitat Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, Bryson S, Carver LJ, Constantino JN, Dobkins K, Hutman T, Iverson JM, Landa R, Rogers SJ, Sigman M, Stone WL (2011) Recurrence risk for autism spectrum disorders: a baby siblings research consortium study. Pediatrics 128:e488–e495PubMedPubMedCentral Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, Bryson S, Carver LJ, Constantino JN, Dobkins K, Hutman T, Iverson JM, Landa R, Rogers SJ, Sigman M, Stone WL (2011) Recurrence risk for autism spectrum disorders: a baby siblings research consortium study. Pediatrics 128:e488–e495PubMedPubMedCentral

Zurück zum Zitat Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T (2006) Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. Eur J Med Genet 49:9–18CrossRefPubMed Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T (2006) Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. Eur J Med Genet 49:9–18CrossRefPubMed

Zurück zum Zitat Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceicao IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jimenez GP, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Cafe C, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94:677–694CrossRefPubMedPubMedCentral Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, Pagnamenta AT, Oliveira B, Marshall CR, Magalhaes TR, Lowe JK, Howe JL, Griswold AJ, Gilbert J, Duketis E, Dombroski BA, De Jonge MV, Cuccaro M, Crawford EL, Correia CT, Conroy J, Conceicao IC, Chiocchetti AG, Casey JP, Cai G, Cabrol C, Bolshakova N, Bacchelli E, Anney R, Gallinger S, Cotterchio M, Casey G, Zwaigenbaum L, Wittemeyer K, Wing K, Wallace S, van Engeland H, Tryfon A, Thomson S, Soorya L, Roge B, Roberts W, Poustka F, Mouga S, Minshew N, McInnes LA, McGrew SG, Lord C, Leboyer M, Le Couteur AS, Kolevzon A, Jimenez GP, Jacob S, Holt R, Guter S, Green J, Green A, Gillberg C, Fernandez BA, Duque F, Delorme R, Dawson G, Chaste P, Cafe C, Brennan S, Bourgeron T, Bolton PF, Bolte S, Bernier R, Baird G, Bailey AJ, Anagnostou E, Almeida J, Wijsman EM, Vieland VJ, Vicente AM, Schellenberg GD, Pericak-Vance M, Paterson AD, Parr JR, Oliveira G, Nurnberger JI, Monaco AP, Maestrini E, Klauck SM, Hakonarson H, Haines JL, Geschwind DH, Freitag CM, Folstein SE, Ennis S, Coon H, Battaglia A, Szatmari P, Sutcliffe JS, Hallmayer J, Gill M, Cook EH, Buxbaum JD, Devlin B, Gallagher L, Betancur C, Scherer SW (2014) Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 94:677–694CrossRefPubMedPubMedCentral

Zurück zum Zitat Reiff M, Giarelli E, Bernhardt BA, Easley E, Spinner NB, Sankar PL, Mulchandani S (2015) Parents’ perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders. J Autism Dev Disord 45:3262–3275CrossRefPubMedPubMedCentral Reiff M, Giarelli E, Bernhardt BA, Easley E, Spinner NB, Sankar PL, Mulchandani S (2015) Parents’ perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders. J Autism Dev Disord 45:3262–3275CrossRefPubMedPubMedCentral

Zurück zum Zitat Selkirk CG, McCarthy VP, Lian F, Schimmenti L, LeRoy BS (2009) Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. J Genet Couns 18:507–519CrossRefPubMed Selkirk CG, McCarthy VP, Lian F, Schimmenti L, LeRoy BS (2009) Parents’ perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors. J Genet Couns 18:507–519CrossRefPubMed

Zurück zum Zitat Shaaya EA, Pollack SF, Boronat S, Davis-Cooper S, Zella GC, Thibert RL (2015) Gastrointestinal problems in 15q duplication syndrome. Eur J Med Genet 58:191–193CrossRefPubMed Shaaya EA, Pollack SF, Boronat S, Davis-Cooper S, Zella GC, Thibert RL (2015) Gastrointestinal problems in 15q duplication syndrome. Eur J Med Genet 58:191–193CrossRefPubMed

Zurück zum Zitat Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang AT, Cai G, Parkhomenko E, Halpern D, Grodberg D, Angarita B, Willner JP, Yang A, Canitano R, Chaplin W, Betancur C, Buxbaum JD (2013) Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism 4:18CrossRefPubMedPubMedCentral Soorya L, Kolevzon A, Zweifach J, Lim T, Dobry Y, Schwartz L, Frank Y, Wang AT, Cai G, Parkhomenko E, Halpern D, Grodberg D, Angarita B, Willner JP, Yang A, Canitano R, Chaplin W, Betancur C, Buxbaum JD (2013) Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency. Mol Autism 4:18CrossRefPubMedPubMedCentral

Zurück zum Zitat South ST, Lee C, Lamb AN, Higgins AW, Kearney HM (2013) ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 15:901–909CrossRefPubMed South ST, Lee C, Lamb AN, Higgins AW, Kearney HM (2013) ACMG standards and guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013. Genet Med 15:901–909CrossRefPubMed

Zurück zum Zitat Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green SL, D’Angelo D, Chen Q, Chung WK, Sherr EH (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170:2943–2955CrossRefPubMed Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green SL, D’Angelo D, Chen Q, Chung WK, Sherr EH (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170:2943–2955CrossRefPubMed

Zurück zum Zitat Sztainberg Y, Zoghbi HY (2016) Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci 19:1408–1417CrossRefPubMed Sztainberg Y, Zoghbi HY (2016) Lessons learned from studying syndromic autism spectrum disorders. Nat Neurosci 19:1408–1417CrossRefPubMed

Zurück zum Zitat Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D’Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA (2015) Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA 314:895–903CrossRefPubMed Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, Howe JL, Gazzellone MJ, Lau L, Sung WW, Whitten K, Vardy C, Crosbie V, Tsang B, D’Abate L, Tong WW, Luscombe S, Doyle T, Carter MT, Szatmari P, Stuckless S, Merico D, Stavropoulos DJ, Scherer SW, Fernandez BA (2015) Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA 314:895–903CrossRefPubMed

Zurück zum Zitat Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J (2017) Autism spectrum disorder in males with sex chromosome aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY. J Dev Behav Pediatr 38(3):197–207CrossRefPubMed Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J (2017) Autism spectrum disorder in males with sex chromosome aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY. J Dev Behav Pediatr 38(3):197–207CrossRefPubMed

Zurück zum Zitat Tick B, Bolton P, Happe F, Rutter M, Rijsdijk F (2016) Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry 57:585–595CrossRefPubMed Tick B, Bolton P, Happe F, Rutter M, Rijsdijk F (2016) Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry 57:585–595CrossRefPubMed

Zurück zum Zitat Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J (2015) 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. Eur J Med Genet 58:140–147CrossRefPubMed Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J (2015) 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. Eur J Med Genet 58:140–147CrossRefPubMed

Zurück zum Zitat Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA (2010) A double hit implicates DIAPH3 as an autism risk gene. Mol Psychiatry 16(4):442–451CrossRefPubMedPubMedCentral Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA (2010) A double hit implicates DIAPH3 as an autism risk gene. Mol Psychiatry 16(4):442–451CrossRefPubMedPubMedCentral

Zurück zum Zitat Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH (2014) Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Mol Autism 5:13CrossRefPubMedPubMedCentral Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH (2014) Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Mol Autism 5:13CrossRefPubMedPubMedCentral

Zurück zum Zitat Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P, Eyeoyibo M, Hassiotis A, McCarthy J, Mukherjee R, Paschos D, Perumal N, Read S, Shankar R, Sharif S, Thirulokachandran S, Thygesen JH, Patch C, Ogilvie C, Flinter F, McQuillin A, Bass N (2016) Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Eur J Hum Genet 25:66–72CrossRefPubMedPubMedCentral Wolfe K, Strydom A, Morrogh D, Carter J, Cutajar P, Eyeoyibo M, Hassiotis A, McCarthy J, Mukherjee R, Paschos D, Perumal N, Read S, Shankar R, Sharif S, Thirulokachandran S, Thygesen JH, Patch C, Ogilvie C, Flinter F, McQuillin A, Bass N (2016) Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders. Eur J Hum Genet 25:66–72CrossRefPubMedPubMedCentral

Zurück zum Zitat World Health Organisation (1992) The ICD-10 classification of mental and behavioural disorders. Clinical descriptions and diagnostic guidelines. World Health Organisation, Geneva World Health Organisation (1992) The ICD-10 classification of mental and behavioural disorders. Clinical descriptions and diagnostic guidelines. World Health Organisation, Geneva