Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome

Daniel Jacobson; Megan Bursch; Renee Lajiness-O'Neill

doi:10.1055/s-0036-1584549

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2016; 05(03): 150-157
DOI: 10.1055/s-0036-1584549

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Potential Role of Cortisol in Social and Memory Impairments in Individuals with 22q11.2 Deletion Syndrome

Daniel Jacobson

¹Department of Psychology, Eastern Michigan University, Gulfport, Mississippi, United States

,

Megan Bursch

²Department of Social Work, University of Michigan, Ann Arbor, Michigan, United States

,

Renee Lajiness-O'Neill

²Department of Social Work, University of Michigan, Ann Arbor, Michigan, United States

› Author Affiliations

Abstract

22q11.2 Deletion syndrome is a genetic disorder characterized by physiological and psychological symptoms. This study investigated the role of cortisol on the social and cognitive impairments in children with 22q11.2. A total of 11 children with 22q11.2 were assessed for baseline cortisol levels and received broad neuropsychological testing. Results were compared with 11 controls. Children with 22q11.2 had significantly higher cortisol levels. A significant negative correlation was observed between the general memory and attention/concentration indices of the Wide Range Assessment of Memory and Learning, 2nd edition and cortisol concentrations in the control population. These data provide evidence of a possible causal mechanism that underlies social impairments in stress disorders.

Keywords

neurodevelopmental disorder - cortisol - 22q.11.2 deletion syndrome

Full Text

References

References
1 Lingman Framme J, Borte S, von Döbeln U, Hammarström L, Oskarsdóttir S. Retrospective analysis of TREC based newborn screening results and clinical phenotypes in infants with the 22q11 deletion syndrome. J Clin Immunol 2014; 34 (4) 514-519
2 Eliez S, Blasey CM, Menon V, White CD, Schmitt JE, Reiss AL. Functional brain imaging study of mathematical reasoning abilities in velocardiofacial syndrome (del22q11.2). Genet Med 2001; 3 (1) 49-55
3 Gothelf D, Lombroso PJ. Genetics of childhood disorders: XXV. Velocardiofacial syndrome. J Am Acad Child Adolesc Psychiatry 2001; 40 (4) 489-491
4 Feinstein C, Eliez S, Blasey C, Reiss AL. Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry 2002; 51 (4) 312-318
5 Shprintzen RJ. Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev 2000; 6 (2) 142-147
6 Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders. Am J Med Genet 2001; 105 (4) 354-362
7 Fine SE, Weissman A, Gerdes M , et al. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 2005; 35 (4) 461-470
8 Gothelf D, Gruber R, Presburger G , et al. Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study. J Clin Psychiatry 2003; 64 (10) 1163-1169
9 Gothelf D, Presburger G, Zohar AH , et al. Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am J Med Genet B Neuropsychiatr Genet 2004; 126B (1) 99-105
10 Lachman HM, Morrow B, Shprintzen R , et al. Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am J Med Genet 1996; 67 (5) 468-472
11 Gothelf D, Feinstein C, Thompson T , et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 2007; 164 (4) 663-669
12 Swillen A, Devriendt K, Legius E , et al. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997; 34 (6) 453-458
13 Gothelf D, Furfaro JA, Penniman LC, Glover GH, Reiss AL. The contribution of novel brain imaging techniques to understanding the neurobiology of mental retardation and developmental disabilities. Ment Retard Dev Disabil Res Rev 2005; 11 (4) 331-339
14 Sobin C, Kiley-Brabeck K, Daniels S, Blundell M, Anyane-Yeboa K, Karayiorgou M. Networks of attention in children with the 22q11 deletion syndrome. Dev Neuropsychol 2004; 26 (2) 611-626
15 Kates WR, Burnette CP, Bessette BA , et al. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J Child Neurol 2004; 19 (5) 337-342
16 Lajiness-O'Neill R. 22q11.2 deletion syndrome: introduction. Child Neuropsychol 2005; 11 (1) 1-3
17 Swillen A, Vandeputte L, Cracco J , et al. Neuropsychological, learning and psychosocial profile of primary school aged children with the velo-cardio-facial syndrome (22q11 deletion): evidence for a nonverbal learning disability?. Child Neuropsychol 1999; 5 (4) 230-241
18 Eliez S, Palacio-Espasa F, Spira A , et al. Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes. Eur Child Adolesc Psychiatry 2000; 9 (2) 109-114
19 van Amelsvoort T, Schmitz N, Daly E , et al. Processing facial emotions in adults with velo-cardio-facial syndrome: functional magnetic resonance imaging. Br J Psychiatry 2006; 189: 560-561
20 Golding-Kushner KJ, Weller G, Shprintzen RJ. Velo-cardio-facial syndrome: language and psychological profiles. J Craniofac Genet Dev Biol 1985; 5 (3) 259-266
21 Hoehn-Saric R, McLeod DR, Lee YB, Zimmerli WD. Cortisol levels in generalized anxiety disorder. Psychiatry Res 1991; 38 (3) 313-315
22 Graeff FG. [Anxiety, panic and the hypothalamic-pituitary-adrenal axis]. Rev Bras Psiquiatr 2007; 29 (Suppl. 01) S3-S6
23 Merali Z, Anisman H, James JS, Kent P, Schulkin J. Effects of corticosterone on corticotrophin-releasing hormone and gastrin-releasing peptide release in response to an aversive stimulus in two regions of the forebrain (central nucleus of the amygdala and prefrontal cortex). Eur J Neurosci 2008; 28 (1) 165-172
24 Vythilingam M, Vermetten E, Anderson GM , et al. Hippocampal volume, memory, and cortisol status in major depressive disorder: effects of treatment. Biol Psychiatry 2004; 56 (2) 101-112
25 Corbett BA, Schupp CW, Levine S, Mendoza S. Comparing cortisol, stress, and sensory sensitivity in children with autism. Autism Res 2009; 2 (1) 39-49
26 Naber FB, Swinkels SH, Buitelaar JK , et al. Attachment in toddlers with autism and other developmental disorders. J Autism Dev Disord 2007; 37 (6) 1123-1138
27 Curin JM, Terzić J, Petković ZB, Zekan L, Terzić IM, Susnjara IM. Lower cortisol and higher ACTH levels in individuals with autism. J Autism Dev Disord 2003; 33 (4) 443-448
28 Richdale AL, Prior MR. Urinary cortisol circadian rhythm in a group of high-functioning children with autism. J Autism Dev Disord 1992; 22 (3) 433-447
29 Carroll BJ. Limbic system-adrenal cortex regulation in depression and schizophrenia. Psychosom Med 1976; 38 (2) 106-121
30 Walder DJ, Walker EF, Lewine RJ. Cognitive functioning, cortisol release, and symptom severity in patients with schizophrenia. Biol Psychiatry 2000; 48 (12) 1121-1132
31 Alpers GW, Abelson JL, Wilhelm FH, Roth WT. Salivary cortisol response during exposure treatment in driving phobics. Psychosom Med 2003; 65 (4) 679-687
32 Kuhlmann S, Wolf OT. A non-arousing test situation abolishes the impairing effects of cortisol on delayed memory retrieval in healthy women. Neurosci Lett 2006; 399 (3) 268-272
33 Tout K, de Haan M, Campbell EK, Gunnar MR. Social behavior correlates of cortisol activity in child care: gender differences and time-of-day effects. Child Dev 1998; 69 (5) 1247-1262
34 Dettling AC, Gunnar MR, Donzella B. Cortisol levels of young children in full-day childcare centers: relations with age and temperament. Psychoneuroendocrinology 1999; 24 (5) 519-536
35 Gatti R, Antonelli G, Prearo M, Spinella P, Cappellin E, De Palo EF. Cortisol assays and diagnostic laboratory procedures in human biological fluids. Clin Biochem 2009; 42 (12) 1205-1217
36 Cohen H, Zohar J, Gidron Y , et al. Blunted HPA axis response to stress influences susceptibility to posttraumatic stress response in rats. Biol Psychiatry 2006; 59 (12) 1208-1218
37 Cohen J. Statistical power analysis for the behavioral sciences. 2 ed. Hillsdale, NJ: Erlbaum Associates; 1988
38 Cohen J. A power primer. Psychol Bull 1992; 112 (1) 155-159
39 Carrion VG, Weems CF, Ray RD, Glaser B, Hessl D, Reiss AL. Diurnal salivary cortisol in pediatric posttraumatic stress disorder. Biol Psychiatry 2002; 51 (7) 575-582
40 Jacobson DJ, Rowe SL, Lajiness-O'Neill R. Effects of Hippocampal and Temporal Lobe Volume on Social Functioning and Memory Performance on Children with Velocardiofacial Syndrome. Boston, MA: International Neuropsychological Society; 2011
41 Debbané M, Glaser B, Eliez S. Encoding and retrieval processes in velo-cardio-facial syndrome (VCFS). Neuropsychology 2008; 22 (2) 226-234
42 Kates WR, Krauss BR, Abdulsabur N , et al. The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome). Neuropsychologia 2007; 45 (12) 2863-2873
43 Majerus S, Van der Linden M, Braissand V, Eliez S. Verbal short-term memory in individuals with chromosome 22q11.2 deletion: specific deficit in serial order retention capacities?. Am J Ment Retard 2007; 112 (2) 79-93
44 Lajiness-O'Neill R, Beaulieu I, Asamoah A , et al. The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology. Arch Clin Neuropsychol 2006; 21 (2) 175-184
45 Kates WR, Miller AM, Abdulsabur N , et al. Temporal lobe anatomy and psychiatric symptoms in velocardiofacial syndrome (22q11.2 deletion syndrome). J Am Acad Child Adolesc Psychiatry 2006; 45 (5) 587-595
46 Coman IL, Gnirke MH, Middleton FA , et al. The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study. Neuroimage 2010; 53 (3) 1043-1050
47 De Smedt B, Swillen A, Devriendt K , et al. Cognitive correlates of mathematical disabilities in children with velo-cardio-facial syndrome. Genet Couns 2008; 19 (1) 71-94
48 van Amelsvoort T, Henry J, Morris R , et al. Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome. Schizophr Res 2004; 70 (2–3) 223-232
49 Barnea-Goraly N, Eliez S, Menon V, Bammer R, Reiss AL. Arithmetic ability and parietal alterations: a diffusion tensor imaging study in velocardiofacial syndrome. Brain Res Cogn Brain Res 2005; 25 (3) 735-740
50 Baker LD, Frank LL, Foster-Schubert K , et al. Effects of aerobic exercise on mild cognitive impairment: a controlled trial. Arch Neurol 2010; 67 (1) 71-79