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The aim of the present study was to explore the feasibility of an alternative way of interpreting DST results. A total of 50 patients with major depression aged 41.0 ± 11.4 years old participated in the study. Past and present suicide attempts were recorded. Psychometric assessment included the Hamilton Depression Rating Scale (HDRS), the Hamilton Anxiety Scale (HAS), the Newcastle Depression Diagnostic Scale (NDDS), the Diagnostic Melancholia Scale (DMS) and the General Assessment of Functioning (GAF) scale. The 1 mg DST protocol was used. Analysis methods included the chi square test and analysis of covariance (ANCOVA) with Fisher least significant difference (LSD) as post hoc tests. In all, 34 patients (68%) were suppressors, 16 (32%) were non-suppressors and 14 patients had cortisol values above 5 μg\u002Fdl at baseline. Baseline cortisol level did not influence the classical DST interpretation. A total of 18 patients (36%) showed an increase of their cortisol levels after dexamethasone administration and 32 patients (64%) showed a decrease. Reducers had less melancholic features, similar levels of depression, better sleep and less suicidal thoughts in comparison to increasers. No relationship of DST to suicidality was found. The present study explored the pattern of cortisol response to dexamethasone suppression and suggested an alternative way of coding and interpreting the DST on the basis of whether the cortisol levels remain stable or increase vs decrease after the administration of cortisol. 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Data were collected from previous Danish and Nordic studies of PTSD or trauma. The final sample was composed of 6,548 participants, 2,768 (42.3%) men and 3,780 (57.7%) women. PTSD was measured based on the Harvard Trauma Questionnaire, part IV (HTQ-IV). Men and women differed in lifespan distribution of PTSD. The highest prevalence of PTSD was seen in the early 40s for men and in the early 50s for women, while the lowest prevalence for both genders was in the early 70s. Women had an overall twofold higher PTSD prevalence than men. However, at some ages the female to male ratio was nearly 3:1. The highest female to male ratio was found for the 21 to 25 year-olds. 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J Nerv Ment Dis. 1992, 180: 111-116. 10.1097\u002F00005053-199202000-00008.","https:\u002F\u002Fpubmed.ncbi.nlm.nih.gov\u002F1737972",{"mag":831,"openalex":832,"pm":833,"doi":834},"2001224348","W2001224348","1737972","10.1097\u002F00005053-199202000-00008",{"id":708,"text":836,"url":710,"identifiers":837},"American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders. 1994, Washington, DC: APA, 4",{"doi":712},{"id":18,"text":839,"url":18,"identifiers":840},"Bach ME: En empirisk belysning og analyse af \"emotional numbing\" som eventuel selvstændig factor i PTSD. [An empirical description and analysis of \"emotional numbing\", as a potential independent factor in PTSD]. Psykologisk Studieskriftserie. 2003, 6: 1-132.",{},{"id":708,"text":842,"url":710,"identifiers":843},"Saxe G, Wolfe J: Gender and posttraumatic stress disorder. Posttraumatic Stress Disorder: A Comprehensive Text. Edited by: Saigh PA, Bremner JD. 1999, Boston, MA, USA: Allyn and Bacon, 160-179.",{"doi":712},{"id":18,"text":845,"url":846,"identifiers":847},"Dunkel CS, Sefcek JA: Eriksonian lifespan theory and life history theory: an integration using the example of identity formation. Rev Gen Psychol. 2009, 13: 13-23. 10.1037\u002Fa0013687.","https:\u002F\u002Fdoi.org\u002F10.1037\u002Fa0013687",{"mag":848,"openalex":849,"doi":850},"2050624555","W2050624555","10.1037\u002Fa0013687",{"id":708,"text":852,"url":710,"identifiers":853},"Erikson EH: Youth: fidelity and diversity. Daedalus. 1988, 117: 1-24.",{"doi":712},{"id":18,"text":855,"url":18,"identifiers":856},"Rasmusson AM, Friedman MJ: Gender issues in the neurobiology of PTSD. Gender and PTSD. Edited by: Kimerling R, Ouimette P, Wolfe J. 2002, New York, USA: Guilford Press",{},{"id":18,"text":858,"url":859,"identifiers":860},"Saab PG, Matthews KA, Stoney CM, McDonald RH: Premenopausal and postmenopausal women differ in their cardiovascular and neuroendocrine responses to behavioral stressors. Psychophysiology. 1989, 26: 270-280. 10.1111\u002Fj.1469-8986.1989.tb01917.x.","https:\u002F\u002Fdoi.org\u002F10.1111\u002Fj.1469-8986.1989.tb01917.x",{"mag":861,"openalex":862,"pm":863,"doi":864},"2146203318","W2146203318","2756076","10.1111\u002Fj.1469-8986.1989.tb01917.x",{"id":18,"text":866,"url":867,"identifiers":868},"Newton TL, Parker BC, Ho IK: Ambulatory cardiovascular functioning in healthy postmenopausal women with victimization histories. Biol Psychol. 2005, 70: 121-130. 10.1016\u002Fj.biopsycho.2004.12.003.","https:\u002F\u002Fdoi.org\u002F10.1016\u002Fj.biopsycho.2004.12.003",{"mag":869,"openalex":870,"pm":871,"doi":872},"2028046636","W2028046636","16168256","10.1016\u002Fj.biopsycho.2004.12.003",{"id":18,"text":874,"url":875,"identifiers":876},"Brown C, Lowis MJ: Psychosocial development in the elderly: an investigation into Erikson's ninth stage. J Aging Stud. 2003, 17: 415-426. 10.1016\u002FS0890-4065(03)00061-6.","http:\u002F\u002Fdx.doi.org\u002F10.1016\u002Fs0890-4065(03)00061-6",{"doi":877},"10.1016\u002Fs0890-4065(03)00061-6",{"id":18,"text":879,"url":18,"identifiers":880},"Erikson EH: The life cycle completed: A review - Extended version. 1998, New York, USA: W. W. Norton & Company",{},{"id":18,"text":882,"url":883,"identifiers":884},"Tornstam L: Gerotranscendence from young old age to old age. [http:\u002F\u002Fwww.soc.uu.se\u002Fresearch\u002Fgerontology\u002Fpdf\u002Fgtransoldold.pdf]","http:\u002F\u002Fwww.soc.uu.se\u002Fresearch\u002Fgerontology\u002Fpdf\u002Fgtransoldold.pdf",{},{"id":18,"text":886,"url":887,"identifiers":888},"Clark LA: Assessment and diagnosis of personality disorder: perennial issues and an emerging reconceptualization. Ann Rev Psychol. 2002, 58: 227-257. 10.1146\u002Fannurev.psych.57.102904.190200.","https:\u002F\u002Fdoi.org\u002F10.1146\u002Fannurev.psych.57.102904.190200",{"mag":889,"openalex":890,"pm":891,"doi":892},"2151940791","W2151940791","16903806","10.1146\u002Fannurev.psych.57.102904.190200",{"id":18,"text":894,"url":18,"identifiers":895},"Rounsaville BJ, Alarcon RD, Andrews G, Jackson JS, Kendell RE, Kendler K: Basic nomenclature issues for DSM-V. A Research Agenda for DSM-V. Edited by: Kupfer DJ, First MB, Regier DE. 2002, Washington, DC: American Psychiatric Association, 1-29.",{},{"id":18,"text":897,"url":898,"identifiers":899},"Rossi G, Elklit A, Simonsen E: Empirical evidence for a four factor framework of personality disorder organization: multigroup confirmatory factor analysis of the Millon Clinical Multiaxial Inventory - III personality disorder scales across Belgian and Danish data samples. J Personal Disord. 2010, 24: 128-150. 10.1521\u002Fpedi.2010.24.1.128.","https:\u002F\u002Fdoi.org\u002F10.1521\u002Fpedi.2010.24.1.128",{"mag":900,"openalex":901,"pm":902,"doi":903},"2166387620","W2166387620","20205502","10.1521\u002Fpedi.2010.24.1.128",{"id":905,"createTime":906,"updateTime":907,"relativeEntities":908,"slug":909,"properties":910,"entityType":179,"verifyStatus":180,"verifyTime":921,"verifyNote":182,"languages":18,"translateLanguages":18,"viewCount":19,"primaryUrl":922,"fullTextUrl":18,"authors":923,"publicationType":273,"publisherRelationship":1174,"citationCount":19,"citationInfo":1228,"publishDate":1231,"publishYear":1229,"citationAnalyzeStatus":703,"lastCitationAnalyze":1232,"indexDatabases":1233,"openAccess":18,"references":18,"isForceReanalyzing":335},"378e98cf-d3f6-402e-80a7-d8396166adcb","2023-12-17T19:44:53.140+00:00","2026-07-18T18:46:50.077+00:00",[],"Duplication-of-the-NPHP1-gene-in-patients-with-autism-spectrum-disorder-and-normal-intellectual-ability-a-case-series",{"abstract":911,"title":913,"gsPaper":915,"references":917,"doi":919},{"EN":912},"Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social interactions, reduced verbal communication abilities, stereotyped repetitive behaviors, and restricted interests. It is a complex condition caused by genetic and environmental factors; the high heritability of this disorder supports the presence of a significant genetic contribution. Many studies have suggested that copy-number variants contribute to the etiology of autism spectrum disorder. Recently, copy-number variants of the nephronophthisis 1 gene have been reported in patients with autism spectrum disorder. To the best of our knowledge, only six autism spectrum disorder cases with duplications of the nephronophthisis 1 gene have been reported. These patients exhibited intellectual dysfunction, including verbal dysfunction in one patient, below-average verbal intellectual ability in one patient, and intellectual disability in four patients. In this study, we identified nephronophthisis 1 duplications in two unrelated Japanese patients with autism spectrum disorder using a high-resolution single-nucleotide polymorphism array. This report is the first to describe a nephronophthisis 1 duplication in an autism spectrum disorder patient with an average verbal intelligence quotient and an average performance intelligence quotient. However, the second autism spectrum disorder patient with a nephronophthisis 1 duplication had a below-average performance intelligence quotient. Neither patient exhibited physical dysfunction, motor developmental delay, or neurological abnormalities. This study supports the clinical observation of nephronophthisis 1 duplication in autism spectrum disorder cases and might contribute to our understanding of the clinical phenotype that arises from this duplication.",{"EN":914},"Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series",{"VOID":916},"[\"1573142027226375294\"]",{"VOID":918},"Veenstra-Vanderweele J, Christian SL, Cook EH: Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet. 2004, 5: 379-405. 10.1146\u002Fannurev.genom.5.061903.180050.\nBaio J: Prevalence of autism spectrum disorders–Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. 2012, 61: 1-19.\nElsabbagh M, Divan G, Koh YJ, Kim YS, Kauchali S, Marcin C, Montiel-Nava C, Patel V, Paula CS, Wang C, Yasamy MT, Fombonne E: Global prevalence of autism and other pervasive developmental disorders. Autism Res. 2012, 5: 160-179. 10.1002\u002Faur.239.\nXu LM, Li JR, Huang Y, Zhao M, Tang X, Wei L: AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res. 2012, 40: D1016-D1022. 10.1093\u002Fnar\u002Fgkr1145.\nLevy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M: Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron. 2011, 70: 886-897. 10.1016\u002Fj.neuron.2011.05.015.\nSanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, et al: Multiple recurrent de novo CNVs, including duplications of the 7q1123 Williams syndrome region, are strongly associated with autism. Neuron. 2011, 70: 863-885. 10.1016\u002Fj.neuron.2011.05.002.\nPinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, et al: Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010, 466: 368-372. 10.1038\u002Fnature09146.\nGirirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE: Relative burden of large CNVs on a range of neurodevelopmental phenotypes. PLoS Genet. 2011, 7: e1002334-10.1371\u002Fjournal.pgen.1002334.\nBasu SN, Kollu R, Banerjee-Basu S: AutDB: a gene reference resource for autism research. Nucleic Acids Res. 2009, 37: D832-D836. 10.1093\u002Fnar\u002Fgkn835.\nSaunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C: Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet. 2000, 66: 778-789. 10.1086\u002F302819.\nSang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O’Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, et al: Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011, 145: 513-528. 10.1016\u002Fj.cell.2011.04.019.\nTory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S: High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol. 2007, 18: 1566-1575. 10.1681\u002FASN.2006101164.\nBaris H, Bejjani BA, Tan WH, Coulter DL, Martin JA, Storm AL, Burton BK, Saitta SC, Gajecka M, Ballif BC, Irons MB, Shaffer LG, Kimonis VE: Identification of a novel polymorphism–the duplication of the NPHP1 (nephronophthisis 1) gene. Am J Med Genet A. 2006, 140A: 1876-1879. 10.1002\u002Fajmg.a.31390.\nKaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, Shetty S, Rossi MR, Rudd MK, South ST, Brothman AR, Sanger WG, Iyer RK, Crolla JA, et al: An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med. 2011, 13: 777-784. 10.1097\u002FGIM.0b013e31822c79f9.\nDoherty D: Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol. 2009, 16: 143-154. 10.1016\u002Fj.spen.2009.06.002.\nYasuda Y, Hashimoto R, Yamamori H, Ohi K, Fukumoto M, Umeda-Yano S, Mohri I, Ito A, Taniike M, Takeda M: Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder. Mol Autism. 2011, 2: 9-10.1186\u002F2040-2392-2-9.\nLord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994, 24: 659-685. 10.1007\u002FBF02172145.\nYamada A, Suzuki M, Kato M, Tanaka S, Shindo T, Taketani K, Akechi T, Furukawa TA: Emotional distress and its correlates among parents of children with pervasive developmental disorders. Psychiatry Clin Neurosci. 2007, 61: 651-657. 10.1111\u002Fj.1440-1819.2007.01736.x.\nWakabayashi A, Tojo Y, Baron-Cohen S, Wheelwright S: [The Autism-Spectrum Quotient (AQ) Japanese version: evidence from high-functioning clinical group and normal adults]. Shinrigaku Kenkyu. 2004, 75: 78-84. 10.4992\u002Fjjpsy.75.78.\nWechsler D: Wechsler Adult Intelligence Scale - Third Edition, Manual. 1997, The Psychological Corporation, San Antonio\nRoberts JL, Hovanes K, Dasouki M, Manzardo AM, Butler MG: Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene. 2014, 535: 70-78. 10.1016\u002Fj.gene.2013.10.020.\nChakrabarti S, Fombonne E: Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005, 162: 1133-1141. 10.1176\u002Fappi.ajp.162.6.1133.\nLugnegard T, Hallerback MU, Gillberg C: Psychiatric comorbidity in young adults with a clinical diagnosis of Asperger syndrome. Res Dev Disabil. 2011, 32: 1910-1917. 10.1016\u002Fj.ridd.2011.03.025.",{"VOID":920},"10.1186\u002Fs12991-014-0022-2","2024-05-06T22:43:20.519+00:00","https:\u002F\u002Fannals-general-psychiatry.biomedcentral.com\u002Farticles\u002F10.1186\u002Fs12991-014-0022-2",[924,939,962,986,1003,1018,1041,1054,1068,1081,1094,1108,1122,1135,1148,1161],{"id":925,"sortIndex":19,"researcher":18,"roles":926,"affiliations":927,"properties":936,"displayName":938,"givenName":18,"familyName":18},"5be1b9c3-bde7-4d56-9afc-5fe36b4d7eb8",[188],[928],{"id":929,"sortIndex":19,"affiliation":930,"properties":18},"4fa371e2-3ee2-4276-b288-874c99118671",{"id":929,"createTime":18,"updateTime":18,"relativeEntities":931,"slug":18,"properties":932,"entityType":18,"verifyStatus":18,"verifyTime":18,"verifyNote":18,"languages":18,"translateLanguages":18,"viewCount":18,"url":18,"parentIds":935,"statistic":18},[],{"title":933},{"VI":934},"Department of Psychiatry, Osaka University Graduate School of Medicine, Suita, 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Children’s Mental Development, United Graduate School of Child Development, Osaka University, Suita, Japan",[],{"title":958,"gsAuthor":960},{"VI":959},"Ryota Hashimoto",{"VOID":961},"[\"8tfXKQkAAAAJ\"]",{"id":963,"sortIndex":236,"researcher":18,"roles":964,"affiliations":965,"properties":983,"displayName":985,"givenName":18,"familyName":18},"ff93708d-9851-43b5-ac65-17684949fcda",[188],[966,974],{"id":967,"sortIndex":19,"affiliation":968,"properties":18},"c886d40d-9ed1-4679-8b28-c41c6d5f1be3",{"id":967,"createTime":18,"updateTime":18,"relativeEntities":969,"slug":18,"properties":970,"entityType":18,"verifyStatus":18,"verifyTime":18,"verifyNote":18,"languages":18,"translateLanguages":18,"viewCount":18,"url":18,"parentIds":973,"statistic":18},[],{"title":971},{"VI":972},"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, 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University Graduate School of Medicine, Suita, Japan",[],{},{"title":1039},{"VI":1040},"Hidenaga Yamamori",{"id":1042,"sortIndex":124,"researcher":18,"roles":1043,"affiliations":1044,"properties":1051,"displayName":1053,"givenName":18,"familyName":18},"6712389e-f58a-47d6-a207-9fff6edf3b12",[188],[1045],{"id":929,"sortIndex":19,"affiliation":1046,"properties":18},{"id":929,"createTime":18,"updateTime":18,"relativeEntities":1047,"slug":18,"properties":1048,"entityType":18,"verifyStatus":18,"verifyTime":18,"verifyNote":18,"languages":18,"translateLanguages":18,"viewCount":18,"url":18,"parentIds":1050,"statistic":18},[],{"title":1049},{"VI":934},[],{"title":1052},{"VI":1053},"Michiko 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