Literature DB >> 22711268

Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children.

Alex Habel1, Michael-John McGinn, Elaine H Zackai, Nancy Unanue, Donna M McDonald-McGinn.   

Abstract

Growth faltering occurs frequently in infancy in the 22q11 Deletion syndrome (22q11 DS). The subsequent course of growth in childhood and outcome for final adult height lacks consensus. We analyzed 5,149 growth data points from 812 Caucasian subjects with 22q11 DS, from neonates to 37 years old. Charts were constructed for height, weight, body mass index, and head circumference (OFC) using the LMS Chart Maker program. These charts were compared with the WHO birth to 4 years growth standard and US CDC 2000 growth reference between 5 and 20 years. Starting from the 50th centile at birth, by 6-9 months of age boys mean height and weight had fallen to the 9th centile, as did girls height but their weight fell less markedly, to the 25th centile. Feeding difficulties were non-contributory. In children under 2 years old with congenital heart disease (CHD) mean weight was -0.5 SD lighter than no CHD. Catch up growth occurred, more rapid in weight than height in boys. Up to 10 years old both sexes tracked between the 9th and 25th centiles. In adolescence, the trend was to overweight rather than obesity. At 19 years mean height was -0.72 SD for boys, -0.89 SD girls. OFC was significantly smaller than the WHO standard in infancy, between the 9th and 25th centile, rising to the 25th centile by 5 years old. Thereafter the mean was close to the 9th centile of the OFC UK growth reference, more prolonged and marked than in previous studies.
Copyright © 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID: 22711268     DOI: 10.1002/ajmg.a.35426

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  11 in total

Review 1.  22q11.2 deletion syndrome.

Authors:  Donna M McDonald-McGinn; Kathleen E Sullivan; Bruno Marino; Nicole Philip; Ann Swillen; Jacob A S Vorstman; Elaine H Zackai; Beverly S Emanuel; Joris R Vermeesch; Bernice E Morrow; Peter J Scambler; Anne S Bassett
Journal:  Nat Rev Dis Primers       Date:  2015-11-19       Impact factor: 52.329

2.  What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

Authors:  Ian M Campbell; Sarah E Sheppard; T Blaine Crowley; Daniel E McGinn; Alice Bailey; Michael J McGinn; Marta Unolt; Jelle F Homans; Erin Y Chen; Harold I Salmons; J William Gaynor; Elizabeth Goldmuntz; Oksana A Jackson; Lorraine E Katz; Maria R Mascarenhas; Vincent F X Deeney; René M Castelein; Karen B Zur; Lisa Elden; Staci Kallish; Thomas F Kolon; Sarah E Hopkins; Madeline A Chadehumbe; Michele P Lambert; Brian J Forbes; Julie S Moldenhauer; Erica M Schindewolf; Cynthia B Solot; Edward M Moss; Raquel E Gur; Kathleen E Sullivan; Beverly S Emanuel; Elaine H Zackai; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

3.  The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Authors:  Katheryn Grand; Lorraine E Levitt Katz; T Blaine Crowley; Edward Moss; Megan Lessig; Vaneeta Bamba; Katherine Lord; Elaine H Zackai; Beverly S Emanuel; Kathleen Valverde; Donna M McDonald-McGinn
Journal:  Am J Med Genet A       Date:  2018-10       Impact factor: 2.802

4.  Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome.

Authors:  Jacob A S Vorstman; Elemi J Breetvelt; Sasja N Duijff; Stephan Eliez; Maude Schneider; Maria Jalbrzikowski; Marco Armando; Stefano Vicari; Vandana Shashi; Stephen R Hooper; Eva W C Chow; Wai Lun Alan Fung; Nancy J Butcher; Donald A Young; Donna M McDonald-McGinn; Annick Vogels; Therese van Amelsvoort; Doron Gothelf; Ronnie Weinberger; Abraham Weizman; Petra W J Klaassen; Sanne Koops; Wendy R Kates; Kevin M Antshel; Tony J Simon; Opal Y Ousley; Ann Swillen; Raquel E Gur; Carrie E Bearden; René S Kahn; Anne S Bassett
Journal:  JAMA Psychiatry       Date:  2015-04       Impact factor: 21.596

5.  Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome.

Authors:  Han-Yi Lin; Wen-Yu Tsai; Yi-Ching Tung; Shih-Yao Liu; Ni-Chung Lee; Yin-Hsiu Chien; Wuh-Liang Hwu; Cheng-Ting Lee
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-31       Impact factor: 5.555

6.  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
Journal:  Eur J Pediatr       Date:  2014-01-03       Impact factor: 3.183

7.  Failure to thrive as presentation in a patient with 22q11.2 microdeletion.

Authors:  Grazia Bossi; Chiara Gertosio; Cristina Meazza; Giovanni Farello; Mauro Bozzola
Journal:  Ital J Pediatr       Date:  2016-02-11       Impact factor: 2.638

8.  Obesity in adults with 22q11.2 deletion syndrome.

Authors:  Sarah L Voll; Erik Boot; Nancy J Butcher; Samantha Cooper; Tracy Heung; Eva W C Chow; Candice K Silversides; Anne S Bassett
Journal:  Genet Med       Date:  2016-08-18       Impact factor: 8.822

Review 9.  Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.

Authors:  Cynthia B Solot; Debbie Sell; Anne Mayne; Adriane L Baylis; Christina Persson; Oksana Jackson; Donna M McDonald-McGinn
Journal:  Am J Speech Lang Pathol       Date:  2019-07-22       Impact factor: 4.018

10.  CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.

Authors:  Aurélien Macé; Marcus A Tuke; Patrick Deelen; Kati Kristiansson; Hannele Mattsson; Margit Nõukas; Yadav Sapkota; Ursula Schick; Eleonora Porcu; Sina Rüeger; Aaron F McDaid; David Porteous; Thomas W Winkler; Erika Salvi; Nick Shrine; Xueping Liu; Wei Q Ang; Weihua Zhang; Mary F Feitosa; Cristina Venturini; Peter J van der Most; Anders Rosengren; Andrew R Wood; Robin N Beaumont; Samuel E Jones; Katherine S Ruth; Hanieh Yaghootkar; Jessica Tyrrell; Aki S Havulinna; Harmen Boers; Reedik Mägi; Jennifer Kriebel; Martina Müller-Nurasyid; Markus Perola; Markku Nieminen; Marja-Liisa Lokki; Mika Kähönen; Jorma S Viikari; Frank Geller; Jari Lahti; Aarno Palotie; Päivikki Koponen; Annamari Lundqvist; Harri Rissanen; Erwin P Bottinger; Saima Afaq; Mary K Wojczynski; Petra Lenzini; Ilja M Nolte; Thomas Sparsø; Nicole Schupf; Kaare Christensen; Thomas T Perls; Anne B Newman; Thomas Werge; Harold Snieder; Timothy D Spector; John C Chambers; Seppo Koskinen; Mads Melbye; Olli T Raitakari; Terho Lehtimäki; Martin D Tobin; Louise V Wain; Juha Sinisalo; Annette Peters; Thomas Meitinger; Nicholas G Martin; Naomi R Wray; Grant W Montgomery; Sarah E Medland; Morris A Swertz; Erkki Vartiainen; Katja Borodulin; Satu Männistö; Anna Murray; Murielle Bochud; Sébastien Jacquemont; Fernando Rivadeneira; Thomas F Hansen; Albertine J Oldehinkel; Massimo Mangino; Michael A Province; Panos Deloukas; Jaspal S Kooner; Rachel M Freathy; Craig Pennell; Bjarke Feenstra; David P Strachan; Guillaume Lettre; Joel Hirschhorn; Daniele Cusi; Iris M Heid; Caroline Hayward; Katrin Männik; Jacques S Beckmann; Ruth J F Loos; Dale R Nyholt; Andres Metspalu; Johan G Eriksson; Michael N Weedon; Veikko Salomaa; Lude Franke; Alexandre Reymond; Timothy M Frayling; Zoltán Kutalik
Journal:  Nat Commun       Date:  2017-09-29       Impact factor: 14.919

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