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2021

Berlin 2021 conference videos

https://22q11europe.org/berlin-2021-conference-videos/?fbclid=IwAR32_KbdJeNJe2f6i9QEmqnA5KSoYqxZTBy_hE8ifjHdADzfxQRFjOPoIYo

• Introduction : Prof. Dr. Maude Schneider

• Medical, speech therapy + audiological aspects of language acquisition and speaking ability : Prof. Dr. dr Christiane Hey, MHBA & Prof. Dr. dr Robert Sader

• School and learning : Prof. Dr. Ann Swillen & Dr. Edward Moss

• Aging with the DS22q11: Prof. Dr. Therese van Amelsvoort

• Aging with the DS22q11: Dr. Erik Boot

• Whats new on DS22q11? : Prof. Dr. Beate Nowakowska & Dr. Corrado Sandini

• CYPMHC Members’ Report 2021

  The Children and Young People’s Mental Health Coalition Members’ Report 2021 is based on the unique insights gathered from the Coalition’s member organisations, as well as from young people and parents.

  The report reflects on the impact of the Covid-19 pandemic on children and young people, and on our members. Members, young people, parents and carers were concerned about the rising mental health need among children and young people following the pandemic. The pandemic has also placed additional pressures on mental health support services, with many of the Coalition’s members from the voluntary and community sector reporting a surge in demand for their services.

  Education, community and health settings are also vital sources of support for infant, children and young people’s mental health. The report explores the many challenges these settings still face, despite recent policy initiatives and investment to increase the availability of support.

  The report calls for a cross-departmental strategy to put the mental health and wellbeing of all babies, children and young people at the heart of decision-making. Further investment is also required into the mental health support provided through education, community and health settings to ensure that early intervention and prevention is prioritised. https://cypmhc.org.uk/publications/cypmhc-members-report-2021/

• Parental experience of the neuromotor development of children with congenital heart disease: an exploratory qualitative study.

  • Elena Mitteregger, Martina Wehrli, Manuela Theiler, Jana Logoteta, Irina Nast, Brigitte Seliner & Beatrice Latal. BMC Pediatrics volume 21, Article number: 430 (2021)  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-021-02808-8

  
  

• Clinical pathway for babies who screen positive for SCID August 2021 A description of the process for babies who are screen positive for severe combined immunodeficiency (SCID) following routine NHS newborn blood spot (NBS) screening and are referred into diagnostic services.

  Immunology services and teams can use this information to make sure that the babies who need diagnostic testing for SCID are referred and tested in the correct timescales and consistently. https://www.gov.uk/government/publications/clinical-pathway-for-babies-who-screen-positive-for-scid/clinical-pathway-for-babies-who-screen-positive-for-scid

  
  

• A Genetics-First Approach to Understanding Variation in Neuropsychiatric Outcomes: The 22q11.2 Deletion Syndrome Ania Fiksinski 17 March 2021

  https://22q11europe.org/a-genetics-first-approach-to-understanding-variation-in-neuropsychiatric-outcomes-the-22q11-2-deletion-syndrome/

  A Genetics-First Approach to Understanding Variation in Neuropsychiatric Outcomes: The 22q11.2 Deletion Syndrome

• Management of psychiatric disorders in 22q11.2 deletion syndrome
  Dr Maria Rogdaki Clinical Lecturer and Specialty Registrar in Child and Adolescent Psychiatry IOPPN, King’s College London

  
  
  

• Research from Cardiff University New research paper was published by the team at Cardiff University on Autism diagnosis relating to those with 22q11. Jan2021

  Download: 1Chawner-2021-A-genetics-first-approach-to-dissec.pdf

• Familial Environment and Psychiatric Symptoms in Young Children with 22q11 DS 6. April 2020 Yaffa Serur Psychiatric Division of Children and Adolescents Sheba Medical Center Click here - https://22q11europe.org/familial-environment-and-psychiatric-symptoms-in-young-children-with-22q11-ds/

2020

• Learning & memory in 22q11.2 deletion syndrome 10. February 2020In a presentation at the 3rd international conference on 22q11 in Barcelona, Johanna Maeder (University of Geneva) addressed learning & memory in 22q11.2 deletion syndrome. https://22q11europe.org/learning-memory-in-22q11-2-deletion-syndrome/

• White matter development 31. January 2020 At the 3rd international conference on 22q11 in Barcelone, Joëlle Bagautdinova - van der Molen covered the topic of white matter development in 22q11.2 Deletion Syndrome. https://22q11europe.org/white-matter-development/

  
  

• Max Appeal Covid Hospital Passport
  
  

• Management of Sleep Disturbances https://22q11europe.org/management-of-sleep-disturbances/

  
  

• Management of psychiatric disorders in 22q11.2 deletion syndrome Dr Maria Rogdaki Clinical Lecturer and Specialty Registrar in Child and Adolescent Psychiatry IOPPN, King’s College London November 2020 Zoom meeting

  
  

• Parent to Parent advise on getting SEN support in schools Max Appeal

  
  

• 22 steps to understanding 22q Cardiff University
  
  
  

• Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

  Cynthia B. Solot,a Debbie Sell,b Anne Mayne,c Adriane L. Baylis,d,e Christina Persson,f,g Oksana Jackson,h,i and Donna M. McDonald-McGinnj,k

  
  

• Are you ready for personal budgets? Making it Personal can give you support Making it Personal Making it Personal 2 (MIP2) was developed by KIDS from the initial Making it Personal (MIP) project funded by the Department for Education.: Making it personal 2 Leaflet
  
  

• Individual Assessment of Early Learning & Development (IAELD)

2019

• Presentations from the 22q11 Europe Barcelona Meeting, November 2019

  On this page are listed the latest publications and reports that researchers from our community have published on the topic of the 22q11 microdeletion syndrome. (Nov 19) #barcelona. With thanks to 22q Europe. https://22q11europe.org/

  #PROMOTING SOCIALIZATION OF KIDS TEENAGERS AND ADULTS WITH 22Q11DS #SIBLINGS AND FAMILY DYNAMICS: THE NEEDS OF OTHER CHILDREN IN FAMILIES WITH A 22 Q11 CHILDREN #HOW TO MANAGE PHYSICAL ISSUES IN 22Q11DS? #REMEDIATION PROGRAMS FOR 22Q11 #VALIDATION OF COGNITIVE STUDIES WITH INDIVIDUALS WITH 22Q11DS #DRUG TREATMENTS FOR INDIVIDUALS WITH 22Q11

• Systematic Review: Overlap Between Eating, Autism Spectrum, and Attention-Deficit/Hyperactivity Disorder Kathrin Nickel1*†, Simon Maier1,2†, Dominique Endres1, Andreas Joos2,3, Viktoria Maier1, Ludger Tebartz van Elst1‡ and Almut Zeeck2‡

• THE QUESTION OF SEXUALITY IN ADOLESCENTS AND YOUNG ADULTS WITH 22Q11 At the 3rd international conference on 22q11 in Barcelona, Eva Micol (Université de Genève) presented her works on sexuality in the 22q11.2DS.

  
  

• Stay Calm Project https://www.cardiff.ac.uk/news/view/1726668-sleep-problems-in-children-with-genetic-condition-linked-to-mental-health-issues,-clumsiness-and-impaired-planning-ability,-experts-say 22 November 2019

2018

• Adult 22q11DS Guidance for Health Professionals Genet Med advance online publication 8 January 2015 Key Words: 22q11.2 deletion; clinical practice guidelines; DiGeorge syndrome; treatment; velocardiofacial syndrome

• In the Classroom - Presentation produced by Dr James Kiff

2017

• THE LANDSCAPE FOR PEOPLE WITH 22Q11 SYNDROME IN THE UNITED KINGDOM a report compiled by the 22Q11 Syndrome all-party parliamentary group

•  IPA study of people with a sibling with 22q11.2DS 6 September 2017 J. Goodwin,1 S. Alam2 & L. E. Campbell2,3 1 Institute of Health and Society, Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University, Newcastle Upon Tyne, UK 2 School of Psychology, Science Offices, University of Newcastle, Ourimbah, New South Wales, Australia 3 PRC GrowUpWell, University of Newcastle, New South Wales, Australia

• Obesity in adults with 22q11.2 deletion syndrome Sarah L. Voll, MSc1,2, Erik Boot, MD, PhD2–4 , Nancy J. Butcher, PhD2 , Samantha Cooper, MHSc, RD4 , Tracy Heung2 , Eva W.C. Chow, MD, FRCPC2,3, Candice K. Silversides, MD, FRCPC4,5 and Anne S. Bassett, MD, FRCPC2–6

2016

• ocular differences in 22q11 duplications 13 February 2016 Brian J. Forbes, MD, PhD, Donna M. McDonald-McGinn, MS, LCGC, Georgia Wootton, BS, Lindsay Dawson, BS, Elaine Zackai, MD, FACMG, Gil Binenbaum, MD, MSCE

# 22q11 deletion syndrome, #Guidelines, #Di George, #Velocardiofacial, #Congenital abnormalities, #Resource management

• NICE Endocarditis Prophylaxis against infective endocarditis: antimicrobial prophylaxis against infective endocarditis in adults and children undergoing interventional procedures Updated July 2016

• Psychosis and schizophrenia in children and young people: recognition and management 26 October 2016 NICE web link

2015

• Echo Study https://www.cardiff.ac.uk/__data/assets/pdf_file/0010/782137/ECHO-study-briefing-v2.pdf

• New NHS England guidance on waiting times and access 2015/2016 NHS England

• Practical guidelines for managing adults with 22q11.2 deletion syndrome January 2015 Wai Lun Alan Fung, MD, ScD1–4 , Nancy J. Butcher, MSc2,5, Gregory Costain, PhD2,5 , Danielle M. Andrade, MD, MSc1,6, Erik Boot, MD, PhD1–4,7, Eva W.C. Chow, MD, FRCPC2,4, Brian Chung, MRCPCH, MBBS8 , Cheryl Cytrynbaum, MS, CGC9 , Hanna Faghfoury, MD10, Leona Fishman, MD, FRCPC9 , Sixto García-Miñaúr, MD11, Susan George, MD, FRCPC1,12,13, Anthony E. Lang, MD, FRCPC6,14, Gabriela Repetto, MD15, Andrea Shugar, MS, CGC9 , Candice Silversides, MD, FRCPC1,16,17, Ann Swillen, PhD18,19, Therese van Amelsvoort, MD, PhD20, Donna M. McDonald-McGinn, MS, CGC21–23 and Anne S. Bassett, MD, FRCPC1–5,12,17

• Behavioural phenotypes in the classroom: a qualitative study of parental and teacher knowledge of classroom guidelines and teacher views on best practices

• Journal of Intellectual Disabilities Colin Riley Continues with getting his research into journals! 2015

• A comparative study of educational provision for children with neurogenetic syndromes: parent and teacher survey

  C. Reilly,1,2 J. Senior2 & L. Murtagh2 1 Research Department, Young Epilepsy, United Kingdom 2 University College Dublin, School of Education, Ireland

2014

• Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times 3 January 2014 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, and Beverly Tsai-Goodman

• Special educational needs and disability A guide for parents and carers Aug 2014

2013

• Psychosis and schizophrenia in children and young people: recognition and management 23 January 2013 NICE Guidlines