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Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome

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Summary

Velocardiofacial syndrome (VCFS) is characterized by both physical manifestations and neuropsychiatric disabilities. About 6–28% of cases are familial. The aim of the present study was to compare the clinical characteristics of subjects with familial and nonfamilial VCFS, with a special focus on cognitive and psychiatric disabilities. In addition, the complexities of coping with the disease in families in which both a parent and children are affected were highlighted in case vignettes. Sixteen patients from six families with VCFS were compared to 63 subjects with nonfamilial VCFS for physical parameters, IQ, and rate of major psychiatric disorders. After controlling for the effect of age, IQ was significantly lower in the familial compared to the nonfamilial group of VCFS patients. Rate of psychiatric disorders was similarly high in both groups. The familial group had fewer cardiac and palate anomalies. A significant negative correlation was found between IQ and age. Most of the adults with familial VCFS were neuropsychiatrically disabled. Thus, although familial VCFS seems to be associated with a milder physical phenotype than nonfamilial VCFS, the neuropsychiatric deficits are significant in both types, at all ages.

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References

  • BF Cuneo (2001) ArticleTitle22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes Curr Opin Pediatr 14 286

    Google Scholar 

  • MC Digilio A Angioni M De Santis A Lombardo A Giannotti B Dallapiccola B Marino (2003) ArticleTitleSpectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies Clin Genet 63 308–313 Occurrence Handle12702165 Occurrence Handle10.1034/j.1399-0004.2003.00049.x Occurrence Handle1:STN:280:DC%2BD3s3gtlahsQ%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • EM Dykens RM Hodapp S Ort B Finucane LR Shapiro JF Leckman (1989) ArticleTitleThe trajectory of cognitive development in males with fragile X syndrome J Am Acad Child Adolesc Psychiatry 28 422–426 Occurrence Handle2786867 Occurrence Handle1:STN:280:DyaL1M3ptFKrtw%3D%3D Occurrence Handle10.1097/00004583-198905000-00020

    Article  PubMed  CAS  Google Scholar 

  • EM Dykens RM Hodapp K Walsh LJ Nash (1992) ArticleTitleProfiles, correlates, and trajectories of intelligence in Prader-Willi syndrome J Am Acad Child Adolesc Psychiatry 31 1125–1130 Occurrence Handle1429416 Occurrence Handle1:STN:280:DyaK3s%2FlsVaqug%3D%3D Occurrence Handle10.1097/00004583-199211000-00022

    Article  PubMed  CAS  Google Scholar 

  • S Eliez SE Antonarakis MA Morris SP Dahoun AL Reiss (2001) ArticleTitleParental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study Arch Gen Psychiatry 58 64–68 Occurrence Handle11146759 Occurrence Handle10.1001/archpsyc.58.1.64 Occurrence Handle1:STN:280:DC%2BD3M7jvFKitw%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • C Feinstein S Eliez C Blasey AL Reiss (2002) ArticleTitlePsychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk Biol Psychiatry 51 312–318 Occurrence Handle11958782 Occurrence Handle10.1016/S0006-3223(01)01231-8

    Article  PubMed  Google Scholar 

  • MB First RL Spitzer JBW Williams (1997) Structured Clinical Interview for DSM-IV Axis I American Psychiatric Association Washington, DC

    Google Scholar 

  • R Goldberg B Motzkin R Marion PJ Scambler RJ Shprintzen (1993) ArticleTitleVelo-cardio-facial syndrome: a review of 120 patients Am J Med Genet 45 313–319 Occurrence Handle8434617 Occurrence Handle10.1002/ajmg.1320450307 Occurrence Handle1:STN:280:DyaK3s7msleisQ%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • KJ Golding-Kushner G Weller RJ Shprintzen (1985) ArticleTitleVelo-cardio-facial syndrome: language and psychological profiles J Craniofac Genet Dev Biol 5 259–266 Occurrence Handle4044789 Occurrence Handle1:STN:280:DyaL28%2FgvVyjtA%3D%3D

    PubMed  CAS  Google Scholar 

  • D Gothelf S Eliez T Thompson C Hinard L Penniman C Feinstein H Kwon S Jin B Jo SE Antonarakis MA Morris AL Reiss (2005) ArticleTitleCOMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome Nat Neurosci 8 1500–1502 Occurrence Handle16234808 Occurrence Handle10.1038/nn1572 Occurrence Handle1:CAS:528:DC%2BD2MXhtFCrurnF

    Article  PubMed  CAS  Google Scholar 

  • D Gothelf C Feinstein T Thompson E Gu L Penniman E Van Stone H Kwon S Eliez AL Reiss (2007) ArticleTitleRisk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome (velocardiofacial syndrome) Am J Psychiatry 164 663–669 Occurrence Handle17403981 Occurrence Handle10.1176/appi.ajp.164.4.663

    Article  PubMed  Google Scholar 

  • D Gothelf A Frisch H Munitz R Rockah N Laufer T Mozes H Hermesh A Weizman M Frydman (1999) ArticleTitleClinical characteristics of schizophrenia associated with velo-cardio-facial syndrome Schizophr Res 35 105–112 Occurrence Handle9988847 Occurrence Handle10.1016/S0920-9964(98)00114-5 Occurrence Handle1:STN:280:DyaK1M7ktleqsA%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • D Gothelf G Presburger AH Zohar M Burg A Nahmani M Frydman M Shohat D Inbar A Aviram-Goldring J Yeshaya T Steinberg Y Finkelstein A Frisch A Weizman A Apter (2004a) ArticleTitleObsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome Am J Med Genet 126 99–105 Occurrence Handle10.1002/ajmg.b.20124

    Article  Google Scholar 

  • D Gothelf G Presburger D Levy A Nahmani M Burg M Berant LC Blieden Y Finkelstein A Frisch A Apter A Weizman (2004b) ArticleTitleGenetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome Am J Med Genet 126 116–121 Occurrence Handle10.1002/ajmg.b.20144

    Article  Google Scholar 

  • JC Henry T van Amelsvoort RG Morris MJ Owen DG Murphy KC Murphy (2002) ArticleTitleAn investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS) Neuropsychologia 40 471–478 Occurrence Handle11749977 Occurrence Handle10.1016/S0028-3932(01)00136-1 Occurrence Handle1:STN:280:DC%2BD38%2FgsVahsA%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • M Karayiorgou MA Morris B Morrow RJ Shprintzen R Goldberg J Borrow A Gos G Nestadt PS Wolyniec VK Lasseter H Eisen B Childs HH Kazazian R Kucherlapati SE Antonarakis AE Pulver DE Housman (1995) ArticleTitleSchizophrenia susceptibility associated with interstitial deletions of chromosome 22q11 Proc Natl Acad Sci USA 92 7612–7616 Occurrence Handle7644464 Occurrence Handle10.1073/pnas.92.17.7612 Occurrence Handle1:CAS:528:DyaK2MXnsFOnsrs%3D

    Article  PubMed  CAS  Google Scholar 

  • DM McDonald-McGinn MK Tonnesen A Laufer-Cahana B Finucane DA Driscoll BS Emanuel EH Zackai (2001) ArticleTitlePhenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 3 23–29 Occurrence Handle11339373 Occurrence Handle1:STN:280:DC%2BD3Mris1Kqtg%3D%3D Occurrence Handle10.1097/00125817-200101000-00006

    Article  PubMed  CAS  Google Scholar 

  • EM Moss ML Batshaw CB Solot M Gerdes DM McDonald-McGinn DA Driscoll BS Emanuel EH Zackai PP Wang (1999) ArticleTitlePsychoeducational profile of the 22q11.2 microdeletion: a complex pattern J Pediatr 134 193–198 Occurrence Handle9931529 Occurrence Handle10.1016/S0022-3476(99)70415-4 Occurrence Handle1:STN:280:DyaK1M7jt1emuw%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • KC Murphy LA Jones JM Owen (1999) ArticleTitleHigh prevalence of schizophrenia in adults with velo-cardio-facial syndrome Arch Gen Psychiatry 56 940–945 Occurrence Handle10530637 Occurrence Handle10.1001/archpsyc.56.10.940 Occurrence Handle1:STN:280:DyaK1MvlvVahsg%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • DF Papolos GL Faedda S Veit R Goldberg B Morrow R Kucherlapati RJ Shprintzen (1996) ArticleTitleBipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 153 1541–1547 Occurrence Handle8942449 Occurrence Handle1:STN:280:DyaK2s%2Fpsl2jug%3D%3D

    PubMed  CAS  Google Scholar 

  • P Prinzie A Swillen B Maes P Onghena A Vogels A Van Hooste K Devriendt CF Van Lieshout JP Fryns (2004) ArticleTitleParenting, family contexts, and personality characteristics in youngsters with VCFS Genet Couns 15 141–157 Occurrence Handle15287414 Occurrence Handle1:STN:280:DC%2BD2czotlyluw%3D%3D

    PubMed  CAS  Google Scholar 

  • AK Ryan JA Goodship DI Wilson N Philip A Levy H Seidel S Schuffenhauer H Oechsler B Belohradsky M Prieur A Aurias FL Raymond J Clayton-Smith E Hatchwell C McKeown FA Beemer B Dallapiccola G Novelli JA Hurst J Ignatius AJ Green RM Winter L Brueton K Brondum-Nielsen PJ Scambler et al. (1997) ArticleTitleSpectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study J Med Genet 34 798–804 Occurrence Handle9350810 Occurrence Handle1:STN:280:DyaK1c%2FhtVaqsQ%3D%3D Occurrence Handle10.1136/jmg.34.10.798

    Article  PubMed  CAS  Google Scholar 

  • N Shanee A Apter A Weizman (1997) ArticleTitlePsychometric properties of the K-SADS-PL in an Israeli adolescent clinical population Isr J Psychiatry Relat Sci 34 179–186 Occurrence Handle9334522 Occurrence Handle1:STN:280:DyaK2svnsV2jsw%3D%3D

    PubMed  CAS  Google Scholar 

  • RJ Shprintzen (2000) ArticleTitleVelo-cardio-facial syndrome: a distinctive behavioral phenotype Ment Retard Dev Disabil Res Rev 6 142–147 Occurrence Handle10899808 Occurrence Handle10.1002/1098-2779(2000)6:2<142::AID-MRDD9>3.0.CO;2-H Occurrence Handle1:STN:280:DC%2BD3cvgtlGgtA%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • RJ Shprintzen RB Goldberg ML Lewin EJ Sidoti MD Berkman RV Argamaso D Young (1978) ArticleTitleA new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome Cleft Palate J 15 56–62 Occurrence Handle272242 Occurrence Handle1:STN:280:DyaE1c7gsFOiug%3D%3D

    PubMed  CAS  Google Scholar 

  • A Swillen K Devriendt E Legius B Eyskens M Dumoulin M Gewillig JP Fryns (1997) ArticleTitleIntelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS J Med Genet 34 453–458 Occurrence Handle9192263 Occurrence Handle1:STN:280:DyaK2szjsFGqtQ%3D%3D

    PubMed  CAS  Google Scholar 

  • O Udwin M Davies P Howlin (1996) ArticleTitleA longitudinal study of cognitive abilities and educational attainment in Williams syndrome Dev Med Child Neurol 38 1020–1029 Occurrence Handle8913183 Occurrence Handle1:STN:280:DyaK2s%2FntVamtQ%3D%3D Occurrence Handle10.1111/j.1469-8749.1996.tb15062.x

    Article  PubMed  CAS  Google Scholar 

  • SI Usiskin R Nicolson DM Krasnewich W Yan M Lenane M Wudarsky SD Hamburger JL Rapoport (1999) ArticleTitleVelocardiofacial syndrome in childhood-onset schizophrenia J Am Acad Child Adolesc Psychiatry 38 1536–1543 Occurrence Handle10596254 Occurrence Handle10.1097/00004583-199912000-00015 Occurrence Handle1:STN:280:DC%2BD3c%2FmsVSmsw%3D%3D

    Article  PubMed  CAS  Google Scholar 

  • G Vantrappen K Devriendt A Swillen N Rommel A Vogels B Eyskens M Gewillig L Feenstra JP Fryns (1999) ArticleTitlePresenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience Genet Couns 10 3–9 Occurrence Handle10191424 Occurrence Handle1:STN:280:DyaK1M3gslWnug%3D%3D

    PubMed  CAS  Google Scholar 

  • D Wechsler (1989) Manual for the Wechsler Preschool and Primary Scale of Intelligence Psychological Corporation New York

    Google Scholar 

  • D Wechsler (1997a) WISC-III, Wechsler Intelligence Scale for Children EditionNumber3 Psychological Corporation San Antonio, TX

    Google Scholar 

  • D Wechsler (1997b) WAIS-III, Wechsler Adult Intelligence Scale EditionNumber3 Psychological Corporation San Antonio, TX

    Google Scholar 

  • E Zigler RM Hodapp (1991) ArticleTitleBehavioral functioning in individuals with mental retardation Annu Rev Psychol 42 29–50 Occurrence Handle1826825 Occurrence Handle10.1146/annurev.ps.42.020191.000333 Occurrence Handle1:STN:280:DyaK3M3gslSjtQ%3D%3D

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. The Behavioral Neurogenetics Center, Schneider Children’s Medical Center of Israel, Petah Tiqwa, Israel

    D. Gothelf, M. Burg, T. Steinberg, S. Fennig & A. Weizman

  2. Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

    D. Gothelf, A. Aviram-Goldring, T. Steinberg, A. Frisch, S. Fennig, G. Zalsman & A. Weizman

  3. Haim Sheba Medical Center, The Danek Gertner Institute of Human Genetics, Tel Hashomer, Israel

    A. Aviram-Goldring

  4. Pediatric Division, Carmel Medical Center affiliated with Technion-Israel Institute of Technology, Haifa, Israel

    M. Mahajnah

  5. Felsenstein Medical Research Center, Petah Tiqwa, Israel

    A. Frisch & A. Weizman

  6. Geha Mental Health Center, Petah Tiqwa, Israel

    G. Zalsman & A. Weizman

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  1. D. Gothelf
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Gothelf, D., Aviram-Goldring, A., Burg, M. et al. Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome. J Neural Transm 114, 1495–1501 (2007). https://doi.org/10.1007/s00702-007-0766-9

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  • DOI: https://doi.org/10.1007/s00702-007-0766-9

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