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Published in: European Journal of Pediatrics 6/2014

Open Access 01-06-2014 | Original Article

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

Authors: Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen Firth, Andrew Gennery, Anthony Holland, Claire Illingworth, Nigel Mercer, Merel Pannebakker, Andrew Parry, Anne Roberts, Beverly Tsai-Goodman

Published in: European Journal of Pediatrics | Issue 6/2014

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Abstract

The commonest autosomal deletion, 22q11.2 deletion syndrome (22q11DS) is a multisystem disorder varying greatly in severity and age of identification between affected individuals. Holistic care is best served by a multidisciplinary team, with an anticipatory approach. Priorities tend to change with age, from feeding difficulties, infections and surgery of congenital abnormalities particularly of the heart and velopharynx in infancy and early childhood to longer-term communication, learning, behavioural and mental health difficulties best served by evaluation at intervals to consider and initiate management. Regular monitoring of growth, endocrine status, haematological and immune function to enable early intervention helps in maintaining health. Conclusion: Guidelines to best practice management of 22q11DS based on a literature review and consensus have been developed by a national group of professionals with consideration of the limitations of available medical and educational resources.
Literature
1.
go back to reference Antshel KM, Fremont W, Roizen NJ, Shprintzen R, Higgins AM, Dhamoon A, Kates WR (2006) ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. J Am Acad Child Adolesc Psychiatry 45:596–603PubMedCrossRef Antshel KM, Fremont W, Roizen NJ, Shprintzen R, Higgins AM, Dhamoon A, Kates WR (2006) ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. J Am Acad Child Adolesc Psychiatry 45:596–603PubMedCrossRef
2.
go back to reference Baker KD, Skuse DH (2005) Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br J Psychiatry 186:115–120PubMedCrossRef Baker KD, Skuse DH (2005) Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br J Psychiatry 186:115–120PubMedCrossRef
3.
go back to reference Bassettt AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA (2005) Clinical features of 78 adults with 22q11.2 deletion syndrome. Am J Genet A 138:307–313CrossRef Bassettt AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA (2005) Clinical features of 78 adults with 22q11.2 deletion syndrome. Am J Genet A 138:307–313CrossRef
4.
go back to reference Bassett AS, Chow EW, Husted J, Hodgkinson KA, Oechslin E, Harrris L, Silversides C (2009) Premature death in adults with 22q11.2 deletion syndrome. J Med Genet 46:324–330PubMedCentralPubMedCrossRef Bassett AS, Chow EW, Husted J, Hodgkinson KA, Oechslin E, Harrris L, Silversides C (2009) Premature death in adults with 22q11.2 deletion syndrome. J Med Genet 46:324–330PubMedCentralPubMedCrossRef
5.
go back to reference Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio M, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159:332–339PubMedCentralPubMedCrossRef Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio M, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159:332–339PubMedCentralPubMedCrossRef
6.
go back to reference Botto LZ, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O’Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RA (2003) A population based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101–107PubMedCrossRef Botto LZ, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O’Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RA (2003) A population based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101–107PubMedCrossRef
7.
8.
go back to reference Colo D, Drummond DS, Dormans JP, Bailey A, Zackai EH, McDonald-McGinn DM, Castelein R (2012) Scoliosis in the 22q11.2 deletion syndrome. 8th Biennial International 22q11.2 DS Conference, Florida, USA Colo D, Drummond DS, Dormans JP, Bailey A, Zackai EH, McDonald-McGinn DM, Castelein R (2012) Scoliosis in the 22q11.2 deletion syndrome. 8th Biennial International 22q11.2 DS Conference, Florida, USA
9.
go back to reference Davies K, Stiehm ER, Woo P, Murray K (2001) Juvenile idiopathic polyarthritis and IgA deficiency in the 22q11 deletion syndrome. J Rheumatol 28:2326–2334PubMed Davies K, Stiehm ER, Woo P, Murray K (2001) Juvenile idiopathic polyarthritis and IgA deficiency in the 22q11 deletion syndrome. J Rheumatol 28:2326–2334PubMed
10.
go back to reference De Smedt B, Swillen A, Verschaffel L, Ghesquière P (2009) Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review. Dev Disabil Res Rev 15:4–10PubMedCrossRef De Smedt B, Swillen A, Verschaffel L, Ghesquière P (2009) Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review. Dev Disabil Res Rev 15:4–10PubMedCrossRef
11.
go back to reference Department of Health. National Service Framework for children, young people and maternity services 2012. webarchive.nationalarchives.gov.uk/+/www.dh.gov…/DH_4866493. Accessed 1 Dec 2012. Department of Health. National Service Framework for children, young people and maternity services 2012. webarchive.nationalarchives.gov.uk/+/www.dh.gov…/DH_4866493. Accessed 1 Dec 2012.
12.
go back to reference Digilio MC, Pacifico C, Tieri L, Marino B, Giannotti A, Dallapiccola B (1999) Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol 33:329–333PubMedCrossRef Digilio MC, Pacifico C, Tieri L, Marino B, Giannotti A, Dallapiccola B (1999) Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol 33:329–333PubMedCrossRef
13.
go back to reference Duijff SN, Klassen PW, de Veye HF, Beemer FA, Sinnema G, Vorstman JA (2012) Cognitive development in children with 22q11.2 deletion syndrome. B J Psychiatr 200:462–468CrossRef Duijff SN, Klassen PW, de Veye HF, Beemer FA, Sinnema G, Vorstman JA (2012) Cognitive development in children with 22q11.2 deletion syndrome. B J Psychiatr 200:462–468CrossRef
14.
go back to reference European Commission (2013) Social Investment Package: towards social investment for growth and cohesion – including implementing the European Social Fund 2014–2020. Brussels. Accessed 10 May 2013. European Commission (2013) Social Investment Package: towards social investment for growth and cohesion – including implementing the European Social Fund 2014–2020. Brussels. Accessed 10 May 2013.
15.
go back to reference Fung WLA, McEvilly R, Fong J, Silversides C, Chow E, Bassett A (2010) Elevated prevalence of generalized anxiety disorder in adults with 22q11.1 deletion syndrome. Am J Psychiatry 167:998–998PubMedCrossRef Fung WLA, McEvilly R, Fong J, Silversides C, Chow E, Bassett A (2010) Elevated prevalence of generalized anxiety disorder in adults with 22q11.1 deletion syndrome. Am J Psychiatry 167:998–998PubMedCrossRef
16.
go back to reference Gennery AR, Barge D, O’Sullivan JJ, Flood TJ, Cant AJ (2002) Autoantibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child 86:422–425PubMedCentralPubMedCrossRef Gennery AR, Barge D, O’Sullivan JJ, Flood TJ, Cant AJ (2002) Autoantibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child 86:422–425PubMedCentralPubMedCrossRef
17.
go back to reference Gothelf D, Feinstein C, Thompson T, Gu E, Penniman L, Van Stone E, Kwon H, Eliez S, Reiss AL (2007) Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 164:663–669PubMedCrossRef Gothelf D, Feinstein C, Thompson T, Gu E, Penniman L, Van Stone E, Kwon H, Eliez S, Reiss AL (2007) Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 164:663–669PubMedCrossRef
18.
go back to reference Green T, Gothelf D, Glaser B, Debbane M, Frisch A, Kotler M, Weizman A, Eliez S (2009) Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry 48:1060–1068PubMedCrossRef Green T, Gothelf D, Glaser B, Debbane M, Frisch A, Kotler M, Weizman A, Eliez S (2009) Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry 48:1060–1068PubMedCrossRef
19.
go back to reference Greenhalgh KL, Aligianis IA, Bromilow G, Cox H, Hill C, Stait Y, Leech BJ, Lunt PW, Ellis M (2003) 22q11 deletion: a multisystem disorder requiring multidisciplinary input. Arch Dis Child 88:523–524PubMedCentralPubMedCrossRef Greenhalgh KL, Aligianis IA, Bromilow G, Cox H, Hill C, Stait Y, Leech BJ, Lunt PW, Ellis M (2003) 22q11 deletion: a multisystem disorder requiring multidisciplinary input. Arch Dis Child 88:523–524PubMedCentralPubMedCrossRef
20.
go back to reference Golding-Kushner KJ (2001) Therapy techniques for cleft palate speech and VPI. Singular, San Diego Golding-Kushner KJ (2001) Therapy techniques for cleft palate speech and VPI. Singular, San Diego
21.
go back to reference gosh.nhs.uk/medical-conditions/search-for-medical-conditions/digeorge-syndrome/di-george-syndrome-information/. Accessed 1 Aug 2013. gosh.nhs.uk/medical-conditions/search-for-medical-conditions/digeorge-syndrome/di-george-syndrome-information/. Accessed 1 Aug 2013.
22.
go back to reference Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B (2011) Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 32:1278–1289PubMedCentralPubMedCrossRef Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B (2011) Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat 32:1278–1289PubMedCentralPubMedCrossRef
23.
go back to reference Habel A, McGinn MJ 2nd, Zackai EH, Unanue N, McDonald-McGinn DM (2012) Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. A J Med Genet Part A 158A:2665–2671CrossRef Habel A, McGinn MJ 2nd, Zackai EH, Unanue N, McDonald-McGinn DM (2012) Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children. A J Med Genet Part A 158A:2665–2671CrossRef
25.
go back to reference Hooper SR, Curtiss K, Schoch K, Keshavan MS, Allen A, Shashi V (2013) A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome. Res Dev Disabil 34:1758–1769PubMedCentralPubMedCrossRef Hooper SR, Curtiss K, Schoch K, Keshavan MS, Allen A, Shashi V (2013) A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome. Res Dev Disabil 34:1758–1769PubMedCentralPubMedCrossRef
26.
go back to reference Jacobson C, Shearer J, Habel A, Kane F, Tsakanikos E, Kravariti E (2010) Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res 54:701–713PubMedCrossRef Jacobson C, Shearer J, Habel A, Kane F, Tsakanikos E, Kravariti E (2010) Core neuropsychological characteristics of children and adolescents with 22q11.2 deletion. J Intellect Disabil Res 54:701–713PubMedCrossRef
27.
go back to reference Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleeson MM, Weinzimer S, Levitt-Katz SK, Mcdonald-McGinn DM (2001) Graves disease in patients with 22q11.2 deletion. J Pediatr 139:892–895PubMedCrossRef Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleeson MM, Weinzimer S, Levitt-Katz SK, Mcdonald-McGinn DM (2001) Graves disease in patients with 22q11.2 deletion. J Pediatr 139:892–895PubMedCrossRef
28.
go back to reference Kobrynski LJ, Sullivan KE (2007) Velocardiofacial syndrome, Di George syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443–1452PubMedCrossRef Kobrynski LJ, Sullivan KE (2007) Velocardiofacial syndrome, Di George syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 370:1443–1452PubMedCrossRef
29.
go back to reference Lima K, Folling I, Eiklid KL, Natviq S, Abrahamsen TG (2010) Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr 169:983–989PubMedCrossRef Lima K, Folling I, Eiklid KL, Natviq S, Abrahamsen TG (2010) Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr 169:983–989PubMedCrossRef
30.
go back to reference Marder E, Dennis J (2001) Medical management of children with Down’s syndrome. Curr Paediatr 11:57–63CrossRef Marder E, Dennis J (2001) Medical management of children with Down’s syndrome. Curr Paediatr 11:57–63CrossRef
32.
go back to reference McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11–24PubMed McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, Larossa D, Emanuel BS, Zackai EH (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11–24PubMed
33.
go back to reference McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zachai EH (2001) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3:23–29PubMedCrossRef McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zachai EH (2001) Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3:23–29PubMedCrossRef
34.
go back to reference McDonald-McGinn DM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (Di George syndrome/Velocardiofacial syndrome). Medicine 90:1–18PubMedCrossRef McDonald-McGinn DM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (Di George syndrome/Velocardiofacial syndrome). Medicine 90:1–18PubMedCrossRef
35.
go back to reference McElhinny DB, McDonald-McGinn D, Zackai EH, Goldmuntz E (2001) Cardiovascular anomalies in patients diagnosed with chromosome 22q11 deletion beyond 6 months of age. Pediatrics 108:104–108CrossRef McElhinny DB, McDonald-McGinn D, Zackai EH, Goldmuntz E (2001) Cardiovascular anomalies in patients diagnosed with chromosome 22q11 deletion beyond 6 months of age. Pediatrics 108:104–108CrossRef
36.
go back to reference McKay SD, Al-Omari A, Tomlinson LA, Dormans JP (2012) Review of cervical spine anomalies in genetic syndromes. Spine 37:269–277CrossRef McKay SD, Al-Omari A, Tomlinson LA, Dormans JP (2012) Review of cervical spine anomalies in genetic syndromes. Spine 37:269–277CrossRef
37.
go back to reference Mehendale FV, Birch MJ, Birkett L, Sell D, Sommerlad BC (2004) Surgical management of velopharyngeal incompetence in velocardiofacial syndrome. Cleft Palate Craniofac J 41:124–135PubMedCrossRef Mehendale FV, Birch MJ, Birkett L, Sell D, Sommerlad BC (2004) Surgical management of velopharyngeal incompetence in velocardiofacial syndrome. Cleft Palate Craniofac J 41:124–135PubMedCrossRef
38.
go back to reference Meijer C, Soriano V, Watkins A (2003) Report. European Agency for Development in Special Needs Education. Accessed 28 Feb 2013 Meijer C, Soriano V, Watkins A (2003) Report. European Agency for Development in Special Needs Education. Accessed 28 Feb 2013
39.
go back to reference Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D (2012) Genotype–phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet 13:122–129PubMedCentralPubMedCrossRef Michaelovsky E, Frisch A, Carmel M, Patya M, Zarchi O, Green T, Basel-Vanagaite L, Weizman A, Gothelf D (2012) Genotype–phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet 13:122–129PubMedCentralPubMedCrossRef
40.
go back to reference Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH (2010) Consensus statement: chromosome microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749–764PubMedCentralPubMedCrossRef Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH (2010) Consensus statement: chromosome microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749–764PubMedCentralPubMedCrossRef
41.
go back to reference Mills L, Gosling A, Sell D (2006) Extending the communication phenotype associated with 22q11.2 microdeletion syndrome. Adv Speech Lang Pathol 8:17–27CrossRef Mills L, Gosling A, Sell D (2006) Extending the communication phenotype associated with 22q11.2 microdeletion syndrome. Adv Speech Lang Pathol 8:17–27CrossRef
42.
go back to reference Mladovsky P, Srivastava D, Cylus J, Karanikolos M, Evetovits T, Thomson S, McKee, M (2012) Health policy responses to the financial crisis in Europe. Policy summary 5. WHO Regional Office for Europe on behalf of the European Observatory on Health Systems and Policies. Accessed 28 Feb 2013 Mladovsky P, Srivastava D, Cylus J, Karanikolos M, Evetovits T, Thomson S, McKee, M (2012) Health policy responses to the financial crisis in Europe. Policy summary 5. WHO Regional Office for Europe on behalf of the European Observatory on Health Systems and Policies. Accessed 28 Feb 2013
43.
go back to reference Momma K (2010) Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 105:1617–2PubMedCrossRef Momma K (2010) Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 105:1617–2PubMedCrossRef
45.
go back to reference Murphy KC, Jones LA, Owen MJ (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940–945PubMedCrossRef Murphy KC, Jones LA, Owen MJ (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940–945PubMedCrossRef
46.
go back to reference Oskarsdottir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 89:148–151PubMedCentralPubMedCrossRef Oskarsdottir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 89:148–151PubMedCentralPubMedCrossRef
47.
go back to reference Reynaud R, Derain-Court J, Braunstein D, Veyrat M, Gaudart J, Giuliano F, Philip N (2011) Auxological evaluation in patients with a 22q11.2 microdeletion syndrome: normal prevalence of obesity and neonatal length and gender influence on body mass index evolution. Horm Res Paediatr 76:172–177PubMedCrossRef Reynaud R, Derain-Court J, Braunstein D, Veyrat M, Gaudart J, Giuliano F, Philip N (2011) Auxological evaluation in patients with a 22q11.2 microdeletion syndrome: normal prevalence of obesity and neonatal length and gender influence on body mass index evolution. Horm Res Paediatr 76:172–177PubMedCrossRef
48.
go back to reference Ricchetti ET, States L, Hosalkar HS, Tamai J, Maisenbacher M, Mcdonald-McGinn DM, Zackai EH, Drummond DS (2004) Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome. J Bone Joint Surg Am 86:1751–1760PubMed Ricchetti ET, States L, Hosalkar HS, Tamai J, Maisenbacher M, Mcdonald-McGinn DM, Zackai EH, Drummond DS (2004) Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome. J Bone Joint Surg Am 86:1751–1760PubMed
49.
go back to reference Riddell S (2012) Education and disability/special needs policies and practices in education, training and employment for students with disabilities and special educational needs in the EU. European Commission/ Accessed 28 Feb 2013 Riddell S (2012) Education and disability/special needs policies and practices in education, training and employment for students with disabilities and special educational needs in the EU. European Commission/ Accessed 28 Feb 2013
50.
go back to reference Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798–804PubMedCentralPubMedCrossRef Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798–804PubMedCentralPubMedCrossRef
51.
go back to reference Sandrin-Garcia P, Macedo C, Martelli LR, Ramos ES, Guion-Almeida ML, Richieri-Costa A, Passos GA (2002) Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet 61:380–383PubMedCrossRef Sandrin-Garcia P, Macedo C, Martelli LR, Ramos ES, Guion-Almeida ML, Richieri-Costa A, Passos GA (2002) Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet 61:380–383PubMedCrossRef
52.
go back to reference Scottish Intercollegiate Guidelines Network (2012) SIGN 50: a guideline developer’s handbook. sign.ac.uk/guidelines/index.html. Accessed 20 May 2012 Scottish Intercollegiate Guidelines Network (2012) SIGN 50: a guideline developer’s handbook. sign.ac.uk/guidelines/index.html. Accessed 20 May 2012
53.
go back to reference Shashi V, Veerapandiyan A, Schoch K, Kwapil T, Keshavan M, Ip E, Hooper S (2012) Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions. J Intellect Disabil Res 56:865–878PubMedCrossRef Shashi V, Veerapandiyan A, Schoch K, Kwapil T, Keshavan M, Ip E, Hooper S (2012) Social skills and associated psychopathology in children with chromosome 22q11.2 deletion syndrome: implications for interventions. J Intellect Disabil Res 56:865–878PubMedCrossRef
54.
go back to reference Solot CB, Gerdes M, Kirschner RE, McDonald-McGinn D, Moss E, Woodin M, Aleman D, Zackai EH, Wang PP (2001) Communication issues in 22q11 deletion syndrome: children at risk. Genet Med 3:67–71PubMedCrossRef Solot CB, Gerdes M, Kirschner RE, McDonald-McGinn D, Moss E, Woodin M, Aleman D, Zackai EH, Wang PP (2001) Communication issues in 22q11 deletion syndrome: children at risk. Genet Med 3:67–71PubMedCrossRef
55.
go back to reference Spruijt NE, Reijmanhinze J, Hens G, Vander Poorten V, Mink van der Molen AB (2012) In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review. PLoS One 7:e34332 Spruijt NE, Reijmanhinze J, Hens G, Vander Poorten V, Mink van der Molen AB (2012) In search of the optimal surgical treatment for velopharyngeal dysfunction in 22q11.2 deletion syndrome: a systematic review. PLoS One 7:e34332
56.
go back to reference Swillen A, Vanderputte L, Cracco J, Maes B, Ghesqueiere P, Devriendt K, Fryns JP (1999) 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 5:230–241PubMedCrossRef Swillen A, Vanderputte L, Cracco J, Maes B, Ghesqueiere P, Devriendt K, Fryns JP (1999) 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 5:230–241PubMedCrossRef
57.
go back to reference Tatum SA 3rd, Chang J, Havkin N, Shprintzen RJ (2002) Pharyngeal flap and the internal carotid in velocardiofacial syndrome. Arch Facial Plast Surg 4:73–80PubMedCrossRef Tatum SA 3rd, Chang J, Havkin N, Shprintzen RJ (2002) Pharyngeal flap and the internal carotid in velocardiofacial syndrome. Arch Facial Plast Surg 4:73–80PubMedCrossRef
60.
go back to reference Van der Linden B, Spreewenberg C, Schrijvers AJP (2001) Integration of care in the Netherlands: the development of transmural care since 1994. Health Policy 55:111–120PubMedCrossRef Van der Linden B, Spreewenberg C, Schrijvers AJP (2001) Integration of care in the Netherlands: the development of transmural care since 1994. Health Policy 55:111–120PubMedCrossRef
61.
go back to reference Vantrappen G, Devriendt K, Swillen A, Rommel N, Vogels A, Eyskens B, Gewillig M, Feenstra L, Fryns JP (1999) Presenting symptoms and clinical features in 130 patients with the velocardiofacial syndrome. The Leuven experience. Genet Couns 10:3–9PubMed Vantrappen G, Devriendt K, Swillen A, Rommel N, Vogels A, Eyskens B, Gewillig M, Feenstra L, Fryns JP (1999) Presenting symptoms and clinical features in 130 patients with the velocardiofacial syndrome. The Leuven experience. Genet Couns 10:3–9PubMed
62.
go back to reference Vorstman JA, Breetvelt EJ, Thode KI, Chow EW, Bassett AS (2013) Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr Res 143:55–59PubMedCrossRef Vorstman JA, Breetvelt EJ, Thode KI, Chow EW, Bassett AS (2013) Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr Res 143:55–59PubMedCrossRef
63.
go back to reference Vorstman JAS, Morcus MEJ, Duijff SA, Klaassen PWJ, Josien A, Heineman-de Boer FA, Beemer HS, Kahn RS, van England H (2006) The 22q11.2 deletion in children: high rate of autistic spectrum disorders and early onset of psychotic symptoms. J Am Acad. Child Adol Psych 45:1104–1114CrossRef Vorstman JAS, Morcus MEJ, Duijff SA, Klaassen PWJ, Josien A, Heineman-de Boer FA, Beemer HS, Kahn RS, van England H (2006) The 22q11.2 deletion in children: high rate of autistic spectrum disorders and early onset of psychotic symptoms. J Am Acad. Child Adol Psych 45:1104–1114CrossRef
64.
go back to reference Watkins A (2007) Assessment in inclusive settings: key issues for policy and practice. European Agency for Development in Special Needs Education, Odense, Denmark, Accessed 10 May 2013 Watkins A (2007) Assessment in inclusive settings: key issues for policy and practice. European Agency for Development in Special Needs Education, Odense, Denmark, Accessed 10 May 2013
66.
go back to reference WHO Regional Office for Europe (2011) Interim report on implementation of the Tallin Charter. Copenhagen: World Health Organization. Accessed 10 May 2013 WHO Regional Office for Europe (2011) Interim report on implementation of the Tallin Charter. Copenhagen: World Health Organization. Accessed 10 May 2013
68.
go back to reference Woodin M, Wang PP, Aleman D, McDonald-McGinn D, Zackai E, Moss E (2001) Neuropsychological profile of children and adolescents with the 22q11.2 deletion. Genet Med 3:34–39PubMedCrossRef Woodin M, Wang PP, Aleman D, McDonald-McGinn D, Zackai E, Moss E (2001) Neuropsychological profile of children and adolescents with the 22q11.2 deletion. Genet Med 3:34–39PubMedCrossRef
Metadata
Title
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Authors
Alex Habel
Richard Herriot
Dinakantha Kumararatne
Jeremy Allgrove
Kate Baker
Helen Baxendale
Frances Bu’Lock
Helen Firth
Andrew Gennery
Anthony Holland
Claire Illingworth
Nigel Mercer
Merel Pannebakker
Andrew Parry
Anne Roberts
Beverly Tsai-Goodman
Publication date
01-06-2014
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Pediatrics / Issue 6/2014
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-013-2240-z

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