Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty

References

• Higgins J, Green S. Cochrane Handbook for Systematic Reviews of Interventions. Chichester, England: Wiley-Blackwell; 2011.
   Google Scholar
• Social Security Administration. Compilation of the Social Security Laws. n.d. Retrieved from: https://www.socialsecurity.gov/OP_Home/ssact/title02/0216.htm
   Google Scholar
• Shprintzen R. Velo-cardio-facial syndrome: 30 Years of study. Dev Disabil Res Rev 2008;14:3–10.
   PubMed Web of Science ®Google Scholar
• Sundram F, Murphy KC. Velo-cardio-facial syndrome/22q11 deletion syndrome. In: The SAGE Handbook of Developmental Disorders. Howlin P, Charman T, Ghaziuddin M. eds. Los Angeles, CA: SAGE; 2011:219–238.
   Google Scholar
• Antshel K, Kates W, Roizen N, et al. 22q11.2 Deletion syndrome: Genetics, neuroanatomy and cognitive/behavioral features. Child Neuropsychol 2005;11:5–19.
   PubMed Web of Science ®Google Scholar
• Zinkstok J, van Amelsvoort T. Neuropsychological profile and neuroimaging in patients with 22Q11.2 deletion syndrome: A review. Child Neuropsychol 2005;11:21–37.
   PubMed Web of Science ®Google Scholar
• Murphy K. The behavioural phenotype in velo-cardio-facial syndrome. J Intellect Disabil Res 2004;48:524–530.
   PubMed Web of Science ®Google Scholar
• Dixon-Woods M, Agarwal S, Jones D, et al. Synthesising qualitative and quantitative evidence: a review of possible methods. J Health Serv Res Policy 2005;10:45–53.
   PubMedGoogle Scholar
• Angkustsiri K, Leckliter I, Tartaglia N, et al. An examination of the relationship of anxiety and intelligence to adaptive functioning in children with chromosome 22q11.2 deletion syndrome. J Dev Behav Pediatr 2012;33:713–720.
   PubMed Web of Science ®Google Scholar
• Antshel K, Stallone K, Abdul Sabur N, et al. Temperament in velocardiofacial syndrome. J Intellect Disabil Res 2007;51:218–227.
   PubMed Web of Science ®Google Scholar
• Swerdlow A, Schoemaker M, Higgins C, et al. Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: A cohort study. Hum Genet 2008;123:215–224.
   PubMed Web of Science ®Google Scholar
• Kiehl T, Chow E, Mikulis D, et al. Neuropathologic features in adults with 22q11.2 deletion syndrome. Cerebr Cort 2008;19:153–164.
   PubMed Web of Science ®Google Scholar
• Fabbro A, Rizzi E, Schneider M, et al. Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS). Eur Child Adolesc Psychiatry 2012;21:379–385.
   PubMed Web of Science ®Google Scholar
• Beaton E, Simon T. How might stress contribute to increased risk for schizophrenia in children with chromosome 22q11.2 deletion syndrome? J Neurodev Disord 2010;3:68–75.
   PubMed Web of Science ®Google Scholar
• Gothelf D, Presburger G, Levy D, et al. Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. Am J Med Genet 2004;126B:116–121.
   PubMed Web of Science ®Google Scholar
• Duijff S, Klaassen P, de Veye H, et al. Cognitive development in children with 22q11.2 deletion syndrome. Br J Psychiatry 2012;200:462–468.
   PubMed Web of Science ®Google Scholar
• Antshel K, Shprintzen R, Fremont W, et al. Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: A 3-year follow-up study. J Am Acad Child Adolesc Psychiatry 2010;49:333–344.
   PubMed Web of Science ®Google Scholar
• De Smedt B, Devriendt K, Fryns J, et al. Intellectual abilities in a large sample of children with velocardiofacial syndrome: An update. J Intellect Disability Research 2007;51:666–670.
   PubMed Web of Science ®Google Scholar
• Sobin C, Kiley-Brabeck K, Monk S, et al. Sex differences in the behavior of children with the 22q11 deletion syndrome. Psychiatr Res 2009;166:24–34.
   PubMed Web of Science ®Google Scholar
• Goldmuntz E. DiGeorge syndrome: New insights. Clin Perinatol 2005;32:963–978.
   PubMed Web of Science ®Google Scholar
• McElhinney D, Driscoll D, Levin E, et al. Chromosome 22q11 deletion in patients with ventricular septal defect: Frequency and associated cardiovascular anomalies. Pediatrics 2003;112:e472–e476.
   Google Scholar
• Shprintzen R, Higgins A, Antshel K, et al. Velo-cardio-facial syndrome. Curr Opin Pediatr 2005;17:725–730.
   PubMed Web of Science ®Google Scholar
• Zemble R, LuningPrak E, McDonald K, et al. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol 2010;136:409–418.
   PubMed Web of Science ®Google Scholar
• González W, Bautista R. Seizures and EEG findings in an adult patient with DiGeorge syndrome: A case report and review of the literature. Seizure 2009;18:648–651.
   Google Scholar
• McLean-Tooke A, Spickett G, Gennery A. Immunodeficiency and autoimmunity in 22q11.2 deletion syndrome. Scand J Immunol 2007;66:1–7.
   PubMed Web of Science ®Google Scholar
• Sullivan KE. DiGeorge syndrome/velocardiofacial syndrome: The chromosome 22q11.2 deletion syndrome. Adv Exp Med Biol 2007;601:37–50.
   PubMed Web of Science ®Google Scholar
• Widdershoven J, Stubenitsky B, Breugem C, Minkvander Molen A. Outcome of velopharyngoplasty in patients with velocardiofacial syndrome. Arch Otolaryngol Head Neck Surg 2008;134:1159–1164.
   PubMedGoogle Scholar
• Sobin C, Kiley-Brabeck K, Daniels S, et al. Neuropsychological characteristics of children with the 22q11 deletion syndrome: A descriptive analysis. Child Neuropsychol 2005;11:39–53.
   PubMed Web of Science ®Google Scholar
• Aneja A, Fremont W, Antshel K, et al. Manic symptoms and behavioral dysregulation in youth with velocardiofacial syndrome (22q11.2 deletion syndrome). J Child Adolesc Psychopharmacol 2007;17:105–114.
   PubMed Web of Science ®Google Scholar
• Kates W, Antshel K, Willhite R, et al. Gender-moderated dorsolateral prefrontal reductions in 22q11.2 deletion syndrome: Implications for risk for schizophrenia. Child Neuropsychol 2005;11:73–85.
   PubMed Web of Science ®Google Scholar
• Armando M, Girardi P, Vicari S, et al. Adolescents at ultra-high risk for psychosis with and without 22q11 deletion syndrome: A comparison of prodromal psychotic symptoms and general functioning. Schizophr Res 2012;139:151–156.
   PubMed Web of Science ®Google Scholar
• Sobin C, Monk S, Kiley-Brabeck K, et al. Neuromotor deficits in children with the 22q11 deletion syndrome. Mov Disord 2006;21:2082–2089.
   PubMed Web of Science ®Google Scholar
• Costain G, Chow E, Ray P, Bassett A. Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome. J Intellect Disabil Res 2011;56:641–651.
   PubMed Web of Science ®Google Scholar
• Bales A, Zaleski C, McPherson E. Newborn screening programs: Should 22q11 deletion syndrome be added? Genet Med 2010;12:135–144.
   PubMed Web of Science ®Google Scholar
• Gross S, Stosic M, McDonald‐McGinn D, et al. Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11. 2 deletion syndrome. Ultrasound Obstet Gynecol. 2016;47. doi: 10.1002/uog.15754
   Web of Science ®Google Scholar