European Child & Adolescent Psychiatry

, Volume 28, Issue 1, pp 31–42 | Cite as

Education and employment trajectories from childhood to adulthood in individuals with 22q11.2 deletion syndrome

  • Mariela MoshevaEmail author
  • Virginie Pouillard
  • Yael Fishman
  • Lydia Dubourg
  • Dafna Sofrin-Frumer
  • Yaffa Serur
  • Abraham Weizman
  • Stephan Eliez
  • Doron Gothelf
  • Maude Schneider
Original Contribution


22q11.2 deletion syndrome (22q11.2DS) is the most common known microdeletion in humans occurring in 1 out of 2000–4000 live births, with increasing numbers of individuals with the microdeletion living into adulthood. The aim of the study was to explore the education and employment trajectories of individuals with 22q11.2DS from childhood to adulthood in a large cohort composed of two significant samples. 260 individuals with 22q11.2DS, 134 male and 126 female, aged 5–59 years (mean age 21.3 ± 10.8 years) were evaluated at two sites, Geneva (GVA) and Tel Aviv (TA). Psychiatric comorbidities, IQ score, and adaptive functioning were assessed using gold-standard diagnostic tools. Demographic factors, such as data about education, employment, marital status, and living status, were collected. Children entering elementary school (5–12 years) were significantly more likely to attend a mainstream school, while adolescents were significantly more likely to attend special education schools (p < 0.005). Cognitive abilities, and not adaptive functioning, predicted school placement. Among adults with 22q11.2DS (n = 138), 57 (41.3%) were unemployed, 46 (33.3%) were employed in open market employment, and 35 (25.4%) worked in assisted employment. In adulthood, adaptive functioning more than cognitive abilities predicted employment. Surprisingly, psychotic spectrum disorders were not found to be associated with employment. Individuals with 22q11.2DS are characterized by heterogeneity in educational and employment profiles. We found that cognitive abilities and adaptive functioning, and not the presence of psychiatric disorders, are key factors in school placement and employment. These factors should, therefore, be taken into account when planning optimal development of individuals with 22q11.2DS.


Velocardiofacial syndrome Education Adaptive functioning VABS Schizophrenia Psychosis Employment 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Supplementary material

787_2018_1184_MOESM1_ESM.docx (13 kb)
Supplementary material 1 (DOCX 12 kb)


  1. 1.
    Grati FR, Molina Gomes D, Ferreira JCPB et al (2015) Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn 35:801–809. CrossRefGoogle Scholar
  2. 2.
    Shprintzen RJ (2008) Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14:3–10. CrossRefGoogle Scholar
  3. 3.
    Schneider M, Debbané M, Bassett AS et al (2014) Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry. Google Scholar
  4. 4.
    McDonald-McGinn DM, Sullivan KE, Marino B et al (2015) 22Q11.2 deletion syndrome. Nat Rev Dis Prim. Google Scholar
  5. 5.
    Fung WLA, Butcher NJ, Costain G et al (2015) Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med 17:599–609. CrossRefGoogle Scholar
  6. 6.
    Vogels A, Schevenels S, Cayenberghs R et al (2014) Presenting symptoms in adults with the 22q11 deletion syndrome. Eur J Med Genet 57:157–162. CrossRefGoogle Scholar
  7. 7.
    Chow EWC, Watson M, Young DA, Bassett AS (2006) Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophr Res 87:270–278. CrossRefGoogle Scholar
  8. 8.
    Schneider M, Debbané M, Bassett AS et al (2014) Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the international consortium on brain and behavior in 22q11.2 deletion syndrome. Am J Psychiatry 171:627–639. CrossRefGoogle Scholar
  9. 9.
    Green T, Gothelf D, Glaser B et al (2009) Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry 48:1060–1068. CrossRefGoogle Scholar
  10. 10.
    Norkett EM, Lincoln SH, Gonzalez-Heydrich J, D’Angelo EJ (2017) Social cognitive impairment in 22q11 deletion syndrome: a review. Psychiatry Res 253:99–106. CrossRefGoogle Scholar
  11. 11.
    Tang KL, Antshel KM, Fremont WP, Kates WR (2015) Behavioral and psychiatric phenotypes in 22q11.2 deletion syndrome. J Dev Behav Pediatr 36:639–650. CrossRefGoogle Scholar
  12. 12.
    European Agency for Development in Special Needs Education (2012) Special needs educationGoogle Scholar
  13. 13.
    Reilly C, Stedman L (2014) Supporting children with genetic syndromes in the classroom: the example of 22q deletion syndrome. Supp Learn. Google Scholar
  14. 14.
    Crawford C (2011) The employment of people with intellectual disabilities in Canada: a statistical profile. Institute for Research and Development on Inclusion and Society (IRIS), TorontoGoogle Scholar
  15. 15.
    Verdonschot MM, de Witte LP, Reichrath E et al (2009) Community participation of people with an intellectual disability: a review of empirical findings. J Intellect Disabil Res 53:303–318. CrossRefGoogle Scholar
  16. 16.
    Schneider M, Van der Linden M, Glaser B et al (2012) Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome. Psychiatry Res 196:277–284. CrossRefGoogle Scholar
  17. 17.
    Aman MG, Buican B, Arnold LE (2003) Methylphenidate treatment in children with borderline IQ and mental retardation: analysis of three aggregated studies. J Child Adolesc Psychopharmacol 13:29–40. CrossRefGoogle Scholar
  18. 18.
    Butcher NJ, Chow EW, Costain G et al (2012) Functional outcomes of adults with 22q11.2 deletion syndrome. Genet Med 14:836–843. CrossRefGoogle Scholar
  19. 19.
    McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A et al (2001) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3:23–29. CrossRefGoogle Scholar
  20. 20.
    Michaelovsky E, Frisch A, Carmel M et al (2012) Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet 13:122. CrossRefGoogle Scholar
  21. 21.
    Kaufman J, Birmaher B, Brent D et al (1997) Schedule for affective disorders and schizophrenia for school-age children-present and lifetime version (K-SADS-PL): initial reliability and validity data. J Am Acad Child Adolesc Psychiatry 36:980–988. CrossRefGoogle Scholar
  22. 22.
    First M, Spitzer R, Gibbon M, Williams J (1996) Structured clinical interview for DSM-IV-TR axis I disorders (SCID-I)Google Scholar
  23. 23.
    Reich W (2000) Diagnostic interview for children and adolescents (DICA). J Am Acad Child Adolesc Psychiatry 39:59–66. CrossRefGoogle Scholar
  24. 24.
    Wechsler D (1991) Wechsler intelligence scale for children, 3rd edn. Psychol. Corp, San AntonioGoogle Scholar
  25. 25.
    Wechsler D (2003) Wechsler intelligence scale for children—fourth edition (WISC-IV). Psychol. Corp, San AntonioGoogle Scholar
  26. 26.
    Wechsler D (1997) WAIS-III: Wechsler adult intelligence scale. Administration and scoring manual, 3rd edn. Psychol. Corp, San AntonioGoogle Scholar
  27. 27.
    Balboni G, Pedrabissi L, Molteni M, Villa S (2001) Discriminant validity of the Vineland Scales: score profiles of individuals with mental retardation and a specific disorder. Am J Ment Retard 106:162–172.<0162:DVOTVS>2.0.CO;2CrossRefGoogle Scholar
  28. 28.
    Sparrow SS, Cicchetti VDBA (2005) Vineland adaptive behavior scales, 2nd edn. Circle Pines, MNGoogle Scholar
  29. 29.
    Gothelf D, Eliez S, Thompson T et al (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci 8:1500–1502. CrossRefGoogle Scholar
  30. 30.
    Vorstman JAS, Breetvelt EJ, Duijff SN et al (2015) Cognitive decline preceding the onset of psychosis in patients with 22q112 deletion syndrome. JAMA Psychiatry 72:377. CrossRefGoogle Scholar
  31. 31.
    Duijff SN, Klaassen PWJ, Swanenburg de Veye HFN et al (2013) Cognitive and behavioral trajectories in 22q11DS from childhood into adolescence: a prospective 6-year follow-up study. Res Dev Disabil 34:2937–2945. CrossRefGoogle Scholar
  32. 32.
    Duijff SN, Klaassen PWJ, Swanenburg De Veye HFN et al (2012) Cognitive development in children with 22q11.2 deletion syndrome. Br J Psychiatry 200:462–468. CrossRefGoogle Scholar
  33. 33.
    Coghill DR, Banaschewski T, Soutullo C et al (2017) Systematic review of quality of life and functional outcomes in randomized placebo-controlled studies of medications for attention-deficit/hyperactivity disorder. Eur Child Adolesc Psychiatry 26:1283–1307. CrossRefGoogle Scholar
  34. 34.
    Niarchou M, Martin J, Thapar A et al (2015) The clinical presentation of attention deficit-hyperactivity disorder (ADHD) in children with 22q11.2 deletion syndrome. Am J Med Genet Part B Neuropsychiatr Genet 168:730–738. CrossRefGoogle Scholar
  35. 35.
    Tang SX, Yi JJ, Calkins ME et al (2014) Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychol Med 44:1267–1277. CrossRefGoogle Scholar
  36. 36.
    Angkustsiri K, Leckliter I, Tartaglia N et al (2012) An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome. J Dev Behav Pediatr 33:713–720. CrossRefGoogle Scholar
  37. 37.
    Lima K, Folling I, Eiklid KL et al (2010) Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr 169:983–989. CrossRefGoogle Scholar
  38. 38.
    Mosheva M, Eyal S, Weisman O et al (2017) Higher adaptive functioning and lower rate of psychotic comorbidity in married versus unmarried individuals with 22q11.2 deletion syndrome. Am J Med Genet Part A. Google Scholar
  39. 39.
    Lindstrom L, Kahn LG, Lindsey H (2013) Navigating the early career years: barriers and strategies for young adults with disabilities. J Vocat Rehabil 39:1–12. Google Scholar
  40. 40.
    Meeting OE (2010) Mental health, disability and work. Organ Econ Co-operation Dev Dir Employment Labour Soc Aff 26–28Google Scholar
  41. 41.
    Hercher L, Bruenner G (2008) Living with a child at risk for psychotic illness: the experience of parents coping with 22q1.1 deletion syndrome: An exploratory study. Am J Med Genet Part A 146:2355–2360. CrossRefGoogle Scholar
  42. 42.
    Rosenheck R, Mueser KT, Sint K et al (2017) Supported employment and education in comprehensive, integrated care for first episode psychosis: effects on work, school, and disability income. Schizophr Res 182:120–128. CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Mariela Mosheva
    • 1
    • 2
    Email author
  • Virginie Pouillard
    • 3
  • Yael Fishman
    • 1
  • Lydia Dubourg
    • 3
  • Dafna Sofrin-Frumer
    • 1
  • Yaffa Serur
    • 1
  • Abraham Weizman
    • 2
    • 6
  • Stephan Eliez
    • 3
    • 4
  • Doron Gothelf
    • 1
    • 2
    • 5
  • Maude Schneider
    • 3
  1. 1.The Child Psychiatry Division, Edmond and Lily Safra Children’s HospitalSheba Medical CenterTel HashomerIsrael
  2. 2.Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael
  3. 3.Developmental Imaging and Psychopathology Lab, Department of Psychiatry, School of MedicineUniversity of GenevaGenevaSwitzerland
  4. 4.Department of Genetic Medicine and Development, School of MedicineUniversity of GenevaGenevaSwitzerland
  5. 5.Sagol School of NeuroscienceTel Aviv UniversityTel AvivIsrael
  6. 6.Geha Mental Health Center and Felsenstein Medical Research CenterPetah TikvaIsrael

Personalised recommendations