Catatonia in Down syndrome: systematic approach to diagnosis, treatment and outcome assessment based on a case series of seven patients

References

• Presson AP, Partyka G, Jensen KM, et al. Current estimate of down syndrome population prevalence in the United States. J Pediatr. 2013;163(4):1163–1168. doi:10.1016/j.jpeds.2013.06.05523885965
   PubMed Web of Science ®Google Scholar
• de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with down syndrome in the United States. Gen Med. 2017;19(4):439–447.
   Google Scholar
• St. Louis AM, Kim K, Browne ML, et al. for the national birth defects prevention network. Prevalence trends of selected major birth defects: a multi-state population-based retrospective study, United States, 1999 to 2007. Birth Defects Res. 2017;109:1442–1450. doi:10.1002/bdr2.111328905502
   PubMed Web of Science ®Google Scholar
• Hunter A. Down syndrome In: Cassidy SB, Allanson JE, Hoboken HJ, editors. Management of Genetic Syndromes. 2nd ed NY: Wiley-Liss, Inc: John Wiley & Sons; 2005:191–210.
   Google Scholar
• Down Syndrome Medical Interest Group-USA (DSMIG-USA). Available from: http://www.dsmig-usa.org/. Accessed 627, 2019.
   Google Scholar
• Ghaziuddin N, Nassiri A, Miles JH. Catatonia in down syndrome; a treatable cause of regression. Neuropsychiatr Dis Treat. 2015;2(11):941–942. doi:10.2147/NDT.S77307
   Web of Science ®Google Scholar
• Jap SN, Ghaziuddin N. Catatonia among adolescents with down syndrome: a review and 2 case reports. J Ect. 2011;27(4):334–337. doi:10.1097/YCT.0b013e31821d37c621673586
   PubMed Web of Science ®Google Scholar
• Torr J, D’Abrera JC. Maintenance electroconvulsive therapy for depression with catatonia in a young woman with down syndrome. J Ect. 2014;30(4):332–336. doi:10.1097/YCT.000000000000011624755717
   PubMed Web of Science ®Google Scholar
• Dhossche DM, Wachtel LE. Catatonia is hidden in plain sight among different pediatric disorders: a review article. Pediatr Neurol. 2010;43(5):307–315. doi:10.1016/j.pediatrneurol.2010.07.00120933172
   PubMed Web of Science ®Google Scholar
• Fink M. Rediscovering catatonia: the biography of a treatable syndrome. Acta Psychiatr Scand. 2013;127:1–47. doi:10.1111/acps.2012.127.issue-s44123240591
   PubMed Web of Science ®Google Scholar
• Hauptman AJ, Benjamin S. The differential diagnosis and treatment of catatonia in children and adolescents. Harvard Rev Psychiat. 2016;24(6):378–395. doi:10.1097/HRP.0000000000000114
   Web of Science ®Google Scholar
• Francis A. Catatonia: diagnosis, classification and treatment. Curr Psychiatry Rep. 2010;12:180–185. doi:10.1007/s11920-010-0113-y20425278
   PubMed Web of Science ®Google Scholar
• Sienaert P, Rooseleer J, De Fruyt J. Measuring catatonia: a systematic review of rating scales. J Affect Disord. 2011;135(1–3):1–9. doi:10.1016/j.jad.2011.02.01221420736
   PubMed Web of Science ®Google Scholar
• Consoli A, Raffin M, Laurent C, et al. Medical and developmental risk factors of catatonia in children and adolescents: a prospective case-control study. Schizophr Res. 2012;137:151–158. doi:10.1016/j.schres.2012.02.01222401837
   PubMed Web of Science ®Google Scholar
• Sakar S, Sakey S, Mathan K, Bharadwaj B, Kattimani S, Kajkumar R. Assessing catatonia using four different instruments: inter-rater reliability and prevalence in inpatient clinical population. Asian J Psychiatr. 2016;23:27–31. doi:10.1016/j.ajp.2016.07.00327969074
   PubMed Web of Science ®Google Scholar
• Luchini F, Medda P, Mariani MG, Mauri M, Toni C, Perugi G. Electroconvulsive therapy in catatonic patients: efficacy and predictors of response. World J Psychiatry. 2015;22:182–192. doi:10.5498/wjp.v5.i2.182
   Google Scholar
• Bush G, Fink M, Petrides G, Dowling F, Francis A. Catatonia I. Rating scale and standardized examination. Acta Psychiatr Scand. 1996;93(2):129–136. doi:10.1111/acp.1996.93.issue-28686483
   PubMed Web of Science ®Google Scholar
• Ghaziuddin N, Walter G, eds. Electroconvulsive Therapy in Children and Adolescents. New York: Oxford University Press; 2013.
   Google Scholar
• Ghi D, Ghaziuddin N. Use of electroconvulsive therapy in the treatment of catatonia. Future Neurol. 2014;9(5):533–540. doi:10.2217/fnl.14.49
   Google Scholar
• Sienaert P, Dhossche DM, Vancampfort D, De Hert M, Gazdag G. A clinical review of the treatment of catatonia. Front Psychiatry. 2014;5:181–190. doi:10.3389/fpsyt.2014.0018125538636
   PubMed Web of Science ®Google Scholar
• Dhossche DM. Decalogue of catatonia in autism spectrum disorder. Front Psychiatry. 2014;5:1–4. doi:10.3389/fpsyt.2014.0000124478729
   PubMed Web of Science ®Google Scholar
• Pelzer A, Heijden F, Boer E. Systematic review of catatonia treatment. Neuropsychiatric Dis Treat. 2018;14:317–326. doi:10.2147/NDT.S147897
   PubMed Web of Science ®Google Scholar
• Walther S, Strik W. Catatonia. CNS Spectr. 2016;21:341–348. doi:10.1017/S109285291600027427255726
   PubMed Web of Science ®Google Scholar
• Rosebush PI, Mazurek MF. Catatonia and its treatment. Schizophr Bull. 2010;36(2):239–242. doi:10.1093/schbul/sbp14119969591
   PubMed Web of Science ®Google Scholar
• Francis A, Fink M, Appiani F, et al. Catatonia in diagnostic and statistical manual of mental disorders, fifth edition. J Ect. 2010;26(4):246–247. doi:10.1097/YCT.0b013e3181fe28bd21099376
   PubMed Web of Science ®Google Scholar
• Beach SR, Gomex-Bernal F, Huffman JC, Fricchione GL. Alternative treatment strategies for catatonia: a systematic review. Gen Hosp Psychiatry. 2017;48:1–19. doi:10.1016/j.genhosppsych.2017.06.01128917389
   PubMed Web of Science ®Google Scholar
• Carroll BT, Goforth HW, Thomas H, et al. Review of adjunctive glutamate antagonist therapy in the treatment of catatonic syndromes. J Neuropsychiatry Clin Neurosci. 2007;19(4):406–412. doi:10.1176/jnp.2007.19.4.40618070843
   PubMed Web of Science ®Google Scholar
• Theibert HPM, Carroll BT. NMDA antagonists in the treatment of catatonia: a review of case studies from the last 10 years. Gen Hosp Psychiatry. 1918;51:132–133. doi:10.1016/j.genhosppsych.2017.10.010
   Web of Science ®Google Scholar
• Caplan JP Use of dextromethorphan/quinidine as a glutamate modulator in catatonia. Poster presented at: 61st Annual Meeting of the Academy of Psychosomatic Medicine; November 13, 2014; Fort Lauderdale, FL.
   Google Scholar
• Turner JL, Mitchell JL, Carroll BT, Denysenko L. Dextromethorphan/quinidine withdrawal-emergent catatonia. Ann Clin Psychiatry. 2016;1:e8–e9.
   Google Scholar
• Kanne SM, Mazurek MO, Sikora D, et al. The Autism Impact Measure (AIM): initial development of a new tool for treatment outcome measurement. J Autism Dev Disord. 2014;44(1):168–179. doi:10.1007/s10803-013-1862-323748386
   PubMed Web of Science ®Google Scholar
• Mazurek MO, Carlson C, Baker-Ericzén M, Butter E, Norris M, Kanne S. Construct validity of the Autism Impact Measure (AIM). J Autism Dev Disord. 2018. doi:10.1007/s10803-018-3462-8
   Web of Science ®Google Scholar
• Nowell KP, Muckerman J, Graves B, Takahashi N, Miles JH. A longitudinal measure of patient outcomes and treatment responses. Inpreparation, 2019.
   Google Scholar
• Wachtel LE. Treatment of catatonia in autism spectrum disorders. Acta Psychiatr Scand. 2019;130(1):46–55. doi:10.1111/acps.12980
   Web of Science ®Google Scholar
• American Psychiatric Association (APA). Diagnostic and Statistical Manual of Mental Disorders: DSM-5. 5th ed. Washington DC: APA; 2013.
   Google Scholar
• Woodbury-Smith M, Paterson AD, O’Connor I, et al. A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees. J Neurodevelop Disord. 2018;10:20–29. doi:10.1186/s11689-018-9238-9
   Web of Science ®Google Scholar
• Girirajan S, Dennis MY, Baker C, et al. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Gen. 2013;92:221–237. doi:10.1016/j.ajhg.2012.12.016
   PubMed Web of Science ®Google Scholar
• Raffin M, Consoli A, Giannitelli M, et al. Catatonia in children and adolescents: a high rate of genetic conditions. J. Am Acad Child Adolesc Psychiatry. 2018;57(7):518–525. doi:10.1016/j.jaac.2018.03.020
   Web of Science ®Google Scholar
• Tandon R, Heckers S, Bustillo J, et al. Catatonia in DSM-5. Schizophr Res. 2013;150:26–30. doi:10.1016/j.schres.2013.04.03423806583
   PubMed Web of Science ®Google Scholar
• Mayo Clinic Laboratories. Available from: http://www.mayocliniclabs.com/customer-service. Accessed 36, 2019.
   Google Scholar
• Medical Neurogenetics Laboratories Atlanta GA USA. Available from: http://mnglabs.com. Accessed 84, 2018.
   Google Scholar
• Moleculara Laboratory, Oklahoma City OK USA. Available from: http://moleculara.com. Accessed 84, 2018.
   Google Scholar
• Chang K, Frankovich J, Cooperstock M, et al. Clinical evaluation of youth with Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS): recommendations from the 2013 PANS consensus conference. J Child Adolesc Psychopharmacol. 2015;25(1):3–13. doi:10.1089/cap.2014.008425325534
   PubMed Web of Science ®Google Scholar
• Cox CJ, Zuccolo AJ, Edwards EV, et al. Antineuronal antibodies in a heterogeneous group of youth and young adults with tics and obsessive-compulsive disorder. J Child Adolescent Psychopharmacol. 2015;25(1):1–10. doi:10.1089/cap.2014.0048
   Web of Science ®Google Scholar
• Daniels J. Catatonia: clinical aspects and neurobiological correlates. J Neuropsychiatry Clin Neurosci. 2009;21:371. doi:10.1176/jnp.2009.21.4.37119996245
   PubMed Web of Science ®Google Scholar
• Fink M, Shorter E, Taylor MA. Catatonia is not schizophrenia: kraepelin’s error and the need to recognize catatonia as an independent syndrome in medical nomenclature. Schizophr Bull. 2010;36:314–320. doi:10.1093/schbul/sbp05919586994
   PubMed Web of Science ®Google Scholar
• Wing L, Shah A. Catatonia in autistic spectrum disorders. Br J Psychiatry. 2000;176:357–362. doi:10.1192/bjp.176.4.35710827884
   PubMed Web of Science ®Google Scholar
• Wing L, Shah A. A systematic examination of catatonia-like clinical pictures in autism spectrum disorders In: Dhossche DM, Wing L, Ohta M, Neumärker K-J, editors. Catatonia in Autism Spectrum Disorders. Amsterdam: Elsevier; 2006:22–39.
   Google Scholar
• Shorter E. Making childhood catatonia visible, separate from competing diagnoses. Acta Psychiatr Scand. 2012;125(1):3–10. doi:10.1111/j.1600-0447.2011.01788.x22150101
   PubMed Web of Science ®Google Scholar
• Ghaziuddin N, Dhossche D, Marcotte K. Retrospective chart review of catatonia in child and adolescent psychiatric patients. Acta Psychiatr Scand. 2012;125:33–38. doi:10.1111/j.1600-0447.2011.01778.x22040029
   PubMed Web of Science ®Google Scholar
• Rustad JK, Landsman S, Ivkovic A, Finn CT, Stern TA. Catatonia: an approach to diagnosis and treatments. Prim Care Companion CNS Disord. 2018;20(1):17f02202. doi:10.4088/PCC.17f02202
   Google Scholar
• Oldham MA. The probability that catatonia in the hospital has a medical cause and the relative proportions of its causes: a systematic review. Psychosomatics. 2018;59:333–340. doi:10.1016/j.psym.2018.04.00129776679
   PubMed Web of Science ®Google Scholar
• Smith JH, Smith VD, Philbrick KL, Kumar N. Catatonia due to a general medical or psychiatric condition. J Neuropsychiatry Clin Neurosci. 2012;24:198–207. doi:10.1176/appi.neuropsych.1106012022772668
   PubMed Web of Science ®Google Scholar
• Dhossche D, Bouman N. Catatonia in children and adolescents. J Am Acad Child Adolesc Psychiatry. 1997;36(7):870–871. doi:10.1097/00004583-199707000-000079204663
   PubMed Web of Science ®Google Scholar
• Myers BA, Pueschel SM. Psychiatric disorders in persons with down syndrome. J Nerv Ment Dis. 1991;79(10):609–613. doi:10.1097/00005053-199110000-00004
   Web of Science ®Google Scholar
• Mantry D, Cooper SA, Smiley E, et al. The prevalence and incidence of mental ill-health in adults with down syndrome. J Intellect Disabil Res. 2008;52:141–155. doi:10.1111/j.1365-2788.2007.00985.x18197953
   PubMed Web of Science ®Google Scholar
• Visootsak J, Sherman S. Neuropsychiatric and behavioral aspects of trisomy 21. Curr Psychiatry Rep. 2007;9(2):135–140.17389125
   PubMedGoogle Scholar
• DeJong H, Bunton P, Hare DJ. A systematic review of interventions used to treat catatonic symptoms in people with autistic spectrum disorders. J Autism Dev Disord. 2014;44:2127–2136. doi:10.1007/s10803-014-2085-y24643578
   PubMed Web of Science ®Google Scholar
• Kakooza-Mwesige A, Wachtel LE, Dhossche D. Catatonia in autism: implications across the life span. Eur Child Adolesc Psychiatry. 2008;17:327–335. doi:10.1007/s00787-008-0676-x18427869
   PubMed Web of Science ®Google Scholar
• Devenny D, Matthews A. Regression: atypical loss of attained functioning in children and adolescents with down syndrome. Internat Rev Res Devel Disab. 2011;41:233–264.
   Web of Science ®Google Scholar
• Carroll BT, Kennedy JC, Goforth HW. Catatonic signs in medical and psychiatric catatonias. CNS Spectr. 2000;5(7):66–69.
   Google Scholar
• Fink M, Kellner CH, McCall WV. Optimizing ECT technique in treating catatonia. J Ect. 2016;32:149. doi:10.1097/YCT.000000000000034527428478
   PubMed Web of Science ®Google Scholar
• Unal A, Altindag A, Demir B, Aksoy I. The use of lorazepam and electroconvulsive therapy in the treatment of catatonia: treatment characteristics and outcomes in 60 patients. J Ect. 2017;33(4):290–293. doi:10.1097/YCT.000000000000043328640169
   PubMed Web of Science ®Google Scholar
• Ghaziuddin N, Kutcher S, Knapp P, et al. Practice parameter for use of electroconvulsive therapy with adolescents. J Am Acad Child Adolesc Psychiatry. 2004;43:1512–1539. doi:10.1097/01.chi.0000142280.87429.68
   Web of Science ®Google Scholar
• Leroy A, Naudet F, Vaiva G, Francis A, Thomas P, Amad A. Is electroconvulsive therapy an evidence-based treatment for catatonia? A systematic review and meta-analysis. Eur Arch Psychiatry Clin Neurosci. 2018;268(7):675–687. doi:10.1007/s00406-017-0819-528639007
   PubMed Web of Science ®Google Scholar
• Dhossche DM, Shah A, Wing L. Blueprints for the assessment, treatment and future study of catatonia in autism spectrum disorders. Int Rev Neurobiol. 2006;72:267–284. doi:10.1016/S0074-7742(05)72016-X16697303
   PubMed Web of Science ®Google Scholar
• Fink M, Taylor MA, Ghaziuddin N. Catatonia in autistic spectrum disorders: a medical treatment algorithm. Int Rev Neurobiol. 2006;72:233–244. doi:10.1016/S0074-7742(05)72014-616697301
   PubMed Web of Science ®Google Scholar
• Petrides G, Divadeenam K, Bush G, Francis A. Synergism of lorazepam and electroconvulsive therapy in the treatment of catatonia. Biol Psychiatry. 1997;1:375–381. doi:10.1016/S0006-3223(96)00378-2
   Web of Science ®Google Scholar
• Warner G, Howlin P, Salomone E, Moss J, Charman T. Profiles of children with down syndrome who meet screening criteria for autism spectrum disorder (ASD): a comparison with children diagnosed with ASD attending specialist schools. J Intel Disabil Res. 2017;61:75–82. doi:10.1111/jir.12344
   Web of Science ®Google Scholar
• Capone GT, Grados MA, Kaufmann WE, Bernad-Ripoll S, Jewell A. Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist. Am J Med Genet A. 2005;134:373–380. doi:10.1002/ajmg.a.3062215759262
   PubMed Web of Science ®Google Scholar
• Cárdenas A, Paul MA, Correa C, Valderrama S, Cerda J, Lizama M. Morbidity profile in chilean adolescents with down syndrome. Rev Med Chil. 2016;144(8):998–1005. doi:10.4067/S0034-9887201600080000627905645
   PubMed Web of Science ®Google Scholar
• DiGuiseppi C, Hepburn S, Davis JM, et al. Screening for autism spectrum disorders in children with down syndrome: population prevalence and screening test characteristics. J Dev Behav Pediatr. 2010;31(3):181–191. doi:10.1097/DBP.0b013e3181d5aa6d20375732
   PubMed Web of Science ®Google Scholar
• Warner G, Moss J, Smith P, Howlin P. Autism characteristics and behavioral disturbances in ~500 children with down’s syndrome in England and wales. Autism Res. 2014;7(4):433–441. doi:10.1002/aur.137124664986
   PubMed Web of Science ®Google Scholar
• Ji NY, Capone GT, Kaufmann WE. Autism spectrum disorder in down syndrome: cluster analysis of aberrant behaviour checklist data supports diagnosis. J Intellect Disabil Res. 2011;55:1064–1077. doi:10.1111/j.1365-2788.2011.01465.x21883598
   PubMed Web of Science ®Google Scholar
• Moss J, Richards C, Nelson L, Oliver C. Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with down syndrome. Autism. 2013;17(4):390–404. doi:10.1177/136236131244279022589453
   PubMed Web of Science ®Google Scholar
• Molloy CA, Murray DS, Kinsman A, et al. Differences in the clinical presentation of Trisomy 21 with and without autism. Intellect Disabil Res. 2009;53(2):143–151. doi:10.1111/jir.2009.53.issue-2
   PubMed Web of Science ®Google Scholar
• Carter JC, Capone GT, Gray RM, Cox CS, Kaufmann WE. Autistic-spectrum disorders in down syndrome: further delineation and distinction from other behavioral abnormalities. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(1):87–94. doi:10.1002/ajmg.b.3040716958028
   PubMed Web of Science ®Google Scholar
• Chapman RS, Seung HK, Schwartz S, Kay-Raining Bird E. Language skills of children and adolescents with down syndrome: II. production deficits. J Speech Lang Hear Res. 1998;41:861–873. doi:10.1044/jslhr.4104.8619712133
   PubMed Web of Science ®Google Scholar
• Roberts JE, Price P, Malkin C. Language and communication development in down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(1):26–35. doi:10.1002/mrdd.2013617326116
   PubMedGoogle Scholar
• Capone GT, Chicoine B, Bulova P, et al. Co-occurring medical conditions in adults with down syndrome: a systematic review toward the development of health care guidelines. Am J Med Genet Part A. 2018;176A:116–133. doi:10.1002/ajmg.a.38512
   Web of Science ®Google Scholar
• Bull MJ. For American academy of pediatrics committee on genetics. Health supervision for children with down syndrome. Pediatrics. 2011;128(2):393–406. doi:10.1542/peds.2010-366421788214
   PubMed Web of Science ®Google Scholar
• Kusters MA, Verstegen RH, Gemen EF, de Vries E. Intrinsic defect of the immune system in children with down syndrome: a review. Clin Exp Immunol. 2009;156(2):189–193. doi:10.1111/j.1365-2249.2009.03890.x19250275
   PubMed Web of Science ®Google Scholar
• Fidler DJ, Most DE, Guiberson MM. Neuropsychological correlates of word identification in down syndrome. Res Devel Disabil. 2005;26:487–501. doi:10.1016/j.ridd.2004.11.00715890496
   PubMed Web of Science ®Google Scholar
• Devenny DA, Krinsky-McHale SJ, Sersen G, Silverman WP. Sequence of cognitive decline in dementia in adults with down’s syndrome. J Intellect Disabil Res. 2000;44:654–655.11115020
   PubMed Web of Science ®Google Scholar
• Pueschel SM, Romano C, Failla P, et al. A prevalence study of celiac disease in persons with down syndrome residing in the United States of America. Acta Paediatr. 1999;88(9):953–956.10519335
   PubMed Web of Science ®Google Scholar
• Book L, Hart A, Black J, Feolo M, Zone JJ, Neuhausen SL. Prevalence and clinical characteristics of celiac disease in downs syndrome in a U.S. study. Am J Med Gen. 2001;98:70–74. doi:10.1002/1096-8628(20010101)98:1<70::AID-AJMG1002>3.0.CO;2-G
   PubMed Web of Science ®Google Scholar
• Daneshpazhoo M, Nazemi TM, Bigdeloo L, Yoosefi M. Mucocutaneous findings in 100 children with down syndrome. Pediatr Dermatol. 2007;24:317–320. doi:10.1111/j.1525-1470.2007.00412.x17542890
   PubMed Web of Science ®Google Scholar
• Pierce MJ, LaFranchi SH, Pinter JD. Characterization of thyroid abnormalities in a large cohort of children with down syndrome. Horm Res Paediatr. 2017;87(3):170–178. doi:10.1159/00045795228259872
   PubMed Web of Science ®Google Scholar
• Du Y, Shan LF, Cao ZZ, Feng JC, Cheng Z. Prevalence of celiac disease in patients with down syndrome: a meta-analysis. Oncotarget. 2018;9(4):5387–5396. doi:10.18632/oncotarget.2362429435186
   PubMedGoogle Scholar
• Whooten R, Schmitt J, Schwartz A. Endocrine manifestations of down syndrome. Curr Opin Endocrinol Diabetes Obes. 2018;25:61–66.29135488
   PubMedGoogle Scholar
• Ferrafiat V, Raffin M, Freri B, et al. A causality algorithm to guide diagnosis and treatment of catatonia due to autoimmune conditions in children and adolescents. Schizophr Res. 2018;200:68–76. doi:10.1016/j.schres.2017.06.03628659239
   PubMed Web of Science ®Google Scholar
• Lahutte B, Cornic F, Bonnot O, et al. Multidisciplinary approach of organic catatonia in children and adolescents may improve treatment decision making. Prog Neuropsychopharmacol Biol Psychiatry. 2008;32(6):1393–1398. doi:10.1016/j.pnpbp.2008.02.01518417262
   PubMed Web of Science ®Google Scholar
• Denysenko L, Sica N, Penders TM, et al. Catatonia in the medically ill: etiology, diagnosis, and treatment. The academy of consultation-liaison psychiatry evidence-based medicine subcommittee monograph. Ann Clin Psychiatry. 2018;30(2):140–155.29697715
   PubMed Web of Science ®Google Scholar
• Kovaleva NV. Sex ratio in down syndrome. Tsitol Genet. 2002;36(6):54–69.12557485
   PubMedGoogle Scholar
• Morris JK, Alberman E, Mutton D, Jacobs P. Cytogenetic and epidemiological findings in down syndrome: England and wales 1989–2009. Am J Med Genet A. 2012;158A:1151–1157.
   Web of Science ®Google Scholar
• Zhao W, Chen F, Wu M, et al. Postnatal identification of Trisomy 21: an overview of 7,133 postnatal Trisomy 21 cases identified in a diagnostic reference laboratory in China. PLoS One. 2015;10(7):1–13.
   Web of Science ®Google Scholar