Neuropsychological Phenotype in Wolf-Hirschhorn Syndrome
DOI:
https://doi.org/10.6000/2292-2598.2014.02.02.3Keywords:
Neuropsychological phenotype, intellectual disability, Wolf-Hirschhorn Syndrome, WHS, 4p deletion.Abstract
The Wolf-Hirschhorn syndrome (WHS) is a rare genetic disorder that causes a range of intellectual disability from mild to severe. In this study, we used standard tools to psychometrically characterize the specific neuropsychological phenotype of WHS. We studied 57 individuals with WHS, ranging in age from 2.6 to 28.6 years representing 70% of the certified Italian WHS population. Results obtained by administering Griffiths’ Mental Developmental Scales and the Vineland Adaptive Behavior Scale revealed a typical WHS neuropsychological phenotype characterized by specific strengths and weaknesses. Despite their severe cognitive impairment, in both scales, patients showed better communication and social interaction skills compared to visuo-motor abilities.
Results of our study could bring to the development of new and more effective treatments for individuals affected by WHS: based on neuropsychological phenotype description, it should be possible to design specific rehabilitation programs. These programs would then be aimed at improving rehabilitation protocols to optimize the developmental potential and personal independence of individuals with WHS and thus to improve their quality of life.
References
Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases. Pediatrics 1999; 103(4 Pt 1): 830-836. http://dx.doi.org/10.1542/peds.103.4.830 DOI: https://doi.org/10.1542/peds.103.4.830
Hirschhorn, K. A short history of the initial discovery of the Wolf-Hirschhorn syndrome. Am J Med Genet Part C Semin Med Genet 2008; 148C(4): 244-245. http://dx.doi.org/10.1002/ajmg.c.30186 DOI: https://doi.org/10.1002/ajmg.c.30186
Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet 2008; 148C(4): 246-251. http://dx.doi.org/10.1002/ajmg.c.30187 DOI: https://doi.org/10.1002/ajmg.c.30187
Basgul A, Kavak ZN, Akman I, Basgul A, Gokaslan H, Elcioglu N. Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital diaphragmatic hernia, cystic hygroma and IUGR. Clin Exp Obstet Gynecol 2006; 33(2): 105-106.
De Keersmaecker B, Albert M, Hillion Y, Ville Y. Prenatal diagnosis of brain abnormalities in Wolf-Hirschhorn (4p-) syndrome. Prenat Diagn 2002; 22(5): 366-370. http://dx.doi.org/10.1002/pd.318 DOI: https://doi.org/10.1002/pd.318
Zollino M, Lecce R, Fischetto R, et al. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 2003; 72(3): 590-597. http://dx.doi.org/10.1086/367925 DOI: https://doi.org/10.1086/367925
Dietze I, Fritz B, Huhle D, Simoens W, & Piecha E, Rehder H. Clinical cytogenetic and molecular investigation in a fetus with Wolf-Hirschhorn syndrome with paternally derived 4p deletion. Case report and review of the literature. Fetal Diagn and Ther 2004; 19(3): 251-260. http://dx.doi.org/10.1159/000076707 DOI: https://doi.org/10.1159/000076707
Zollino M, Di Stefano C, Zampino G, et al. Genotype-Phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Hum Genet 2000; 94(3): 254-261. http://dx.doi.org/10.1002/1096-8628(20000918)94:3<254::AID-AJMG13>3.0.CO;2-7 DOI: https://doi.org/10.1002/1096-8628(20000918)94:3<254::AID-AJMG13>3.0.CO;2-7
Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P. Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome (del 4p-). Hum Genet 1981; 59(4): 297-307. http://dx.doi.org/10.1007/BF00295461 DOI: https://doi.org/10.1007/BF00295461
Zollino M, Wright TJ, Di Stefano C, et al. “Tandem” duplication of 4p16.1p16.3pter chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype. Am J Hum Genet 1999; 82(5): 371-375. http://dx.doi.org/10.1002/(SICI)1096-8628(19990219)82:5<371::AID-AJMG3>3.0.CO;2-J DOI: https://doi.org/10.1002/(SICI)1096-8628(19990219)82:5<371::AID-AJMG3>3.0.CO;2-J
Syrrou M, Borghgraef M, and Fryns JP. Unusual Mosaicism in Wolf-Hirschhorn Syndrome. Am J Med Genet 2001; 104(3): 199-203. http://dx.doi.org/10.1002/1096-8628(20011201)104:3<199::AID-AJMG10058>3.0.CO;2-4 DOI: https://doi.org/10.1002/1096-8628(20011201)104:3<199::AID-AJMG10058>3.3.CO;2-W
Lurie IW, Lazjuk GI, Ussova YI, Presman EB, Gurevich DB. The Wolf-Hirschhorn syndrome. I. Genetics. Clin Genet 1980; 17(6): 375-384. http://dx.doi.org/10.1111/j.1399-0004.1980.tb00167.x DOI: https://doi.org/10.1111/j.1399-0004.1980.tb00167.x
Shannon NL, Maltby EL, Rigby AS, Quarrell OW. An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality. Journal of Medical Genetics 2001; 38(10): 674-679. http://dx.doi.org/10.1136/jmg.38.10.674 DOI: https://doi.org/10.1136/jmg.38.10.674
Maas NM, Van Buggenhout G, Hannes F, et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 2008; 45(2): 71-80. http://dx.doi.org/10.1136/jmg.2007.052910 DOI: https://doi.org/10.1136/jmg.2007.052910
Babich SB, Banducci C, Teplitsky P. Dental characteristics of the Wolf-Hirschhorn syndrome: a case report. Spec Care Dentist 2004; 24(4): 229-231. http://dx.doi.org/10.1111/j.1754-4505.2004.tb01697.x DOI: https://doi.org/10.1111/j.1754-4505.2004.tb01697.x
Antonius T, Draaisma J, Levtchenko E, Knoers N, Renier W, van Ravenswaaij C. Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). Eur J Pediatr 2008; 167(7): 807-810. http://dx.doi.org/10.1007/s00431-007-0595-8 DOI: https://doi.org/10.1007/s00431-007-0595-8
Concolino D, Rossi E, Strisciuglio P, Lembo MA, Giorda R, Ciccone R, Tentoni R Zuffardi O. Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. Journal of Medical Genetics 2007; 44(10): 647-650. http://dx.doi.org/10.1136/jmg.2007.050963 DOI: https://doi.org/10.1136/jmg.2007.050963
Battaglia A, Carey JC, Wright TJ. Wolf-Hirschhorn (4p-) Syndrome. Adv pediatr 2001; 48: 75-113. DOI: https://doi.org/10.1016/S0065-3101(23)00074-9
Schaefer BG, Kleimola CN, Stenson C, Daley SE, Farmer P, Holladay K. Wolf-Hirschhorn Sindrome (deletion 4p): A guidebook for families. Omaha, NE, RD & Meyer Rehabilitation Institute, University of Nebraska Medical Center, 1996.
Aslan H, Karaca N, Basaran S, Ermis H, Ceylan Y. Prenatal diagnosis of Wolf Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. BMC Pregnancy Childbirth 2003; 3: 1-6. http://dx.doi.org/10.1186/1471-2393-3-1 DOI: https://doi.org/10.1186/1471-2393-3-1
Lazjuk GI, Lurie IW, Ostrowskaja TI, et al. The Wolf-Hirschhorn syndrome. II. Pathologic anatomy. Clin Genet 1980; 18(1): 6-12. http://dx.doi.org/10.1111/j.1399-0004.1980.tb01357.x DOI: https://doi.org/10.1111/j.1399-0004.1980.tb01357.x
Ulualp S, Wright C, Pawlowski K, Roland P. Histopatho-logical basis of hearing impairment in Wolf-Hirschhorn Syndrome. Laryngoscope 2004; 114(8): 1426-1430. http://dx.doi.org/10.1097/00005537-200408000-00021 DOI: https://doi.org/10.1097/00005537-200408000-00021
Battaglia A & Carey JC. Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome. Brain Dev 2005; 27(5): 362-364. http://dx.doi.org/10.1016/j.braindev.2004.02.017 DOI: https://doi.org/10.1016/j.braindev.2004.02.017
Kagitani-Shimono K, Imai K, Otani K, et al. Epilepsy in Wolf-Hirschhorn syndrome (4p-). Epilepsia 2005; 46(1): 150-155. http://dx.doi.org/10.1111/j.0013-9580.2005.02804.x DOI: https://doi.org/10.1111/j.0013-9580.2005.02804.x
Righini A, Ciosci R, Selicorni A, et al. Brain magnetic resonance imaging in Wolf-Hirschhorn syndrome. Neuropediatrics 2007; 38(1): 25-28. http://dx.doi.org/10.1055/s-2007-981685 DOI: https://doi.org/10.1055/s-2007-981685
Battaglia A. Sindrome di Wolf-Hirschhorn (4p-): una causa di ritardo mentale grave di difficile diagnosi. Rivista italiana di pediatria 1997; 23: 254-259.
Wieczorek D, Krause M, Majewski F, et al. Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion. Eur J Hum Genet 2000; 8(7): 519-526. http://dx.doi.org/10.1038/sj.ejhg.5200498 DOI: https://doi.org/10.1038/sj.ejhg.5200498
Battaglia A, Filippi T, South ST, Carey JC. Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol 2009; 51(5): 337-338. http://dx.doi.org/10.1111/j.1469-8749.2008.03233.x DOI: https://doi.org/10.1111/j.1469-8749.2008.03233.x
Battaglia D, Zampino G, Zollino M, Mariotti P, et al. Electroclinical patterns and evolution of epilepsy in the 4p- syndrome. Epilepsia 2003; 44(9): 1183-1190. http://dx.doi.org/10.1046/j.1528-1157.2003.63502.x DOI: https://doi.org/10.1046/j.1528-1157.2003.63502.x
Fisch GS, Battaglia A, Parrini B, Youngblom J, Simensen R. Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases. Am J Med Genet C Sem Med Genet 2008; 148C(4): 252-256. http://dx.doi.org/10.1002/ajmg.c.30185 DOI: https://doi.org/10.1002/ajmg.c.30185
Fisch GS, Grossfeld P, Falk R, Battaglia A, Youngblom J, Simensen R. Cognitive-behavioral features of Wolf Hirschhorn syndrome and other subtelomeric microdeletions. Am J Med Genet C Semin Med Genet 2010; 154C(4): 417-426. http://dx.doi.org/10.1002/ajmg.c.30279 DOI: https://doi.org/10.1002/ajmg.c.30279
Thomson P. Wolf-Hirschhorn syndrome. Review of the literature and three case studies. J Am Podiatr Med Assoc 1998; 88(4): 192-197. http://dx.doi.org/10.7547/87507315-88-4-192 DOI: https://doi.org/10.7547/87507315-88-4-192
Kozma C, Chong SS, Meck JM. Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia. Am J Med Genet 1999; 86(4): 316-320. http://dx.doi.org/10.1002/(SICI)1096-8628(19991008)86:4<316::AID-AJMG3>3.0.CO;2-1 DOI: https://doi.org/10.1002/(SICI)1096-8628(19991008)86:4<316::AID-AJMG3>3.0.CO;2-1
Ji TY, Chia D, Wang JM, Wu Y, Li J, Xiao J, Jiang YW. Diagnosis and fine localization of deletion region in Wolf-Hirschhorn syndrome patients. Chin Med J (Engl) 2010; 123(13): 1663-1667. DOI: https://doi.org/10.3760/cma.j.issn.0366-6999.2010.13.009
Marcelis C, Schrander-Stumpel C, Engelen J, et al. Wolf-Hirschhorn (4P-) syndrome in adults. Genetic Counseling 2001; 12(1): 35-48.
Cossu MC, Morelli D, Antonucci A. Studio su una popolazione di 57 casi di sindrome di Wolf-Hirschhorn: esiste una variabilità del profilo cognitivo nella WHS? Psicologia Clinica e dello Sviluppo 2011; 2: 449-469.
Griffiths R. The abilities of young children. A comprehensive system of mental measurement for the first eight years of life. London, England: Child Development Research Centre 1970.
Griffiths R. The abilities of young children. A comprehensive system of mental measurement for the first eight years of life. London: the Test Agency 1984.
Balboni G, Pedrabissi L. Adattamento italiano delle Vineland Adaptive Behavior Scales. Firenze: O.S. Organizzazioni Speciali 2003.
Andersen WH, Rasmussen RK, Strømme P. Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children. Logoped Phoniatr 2001; 26(1): 2-9. http://dx.doi.org/10.1080/140154301300109044 DOI: https://doi.org/10.1080/140154301300109044
Madden SJ, Ledermann SE, Guerrero-Blanco M, Bruce M. Cognitive and psychosocial outcome of infants dialysed in infancy. Trompeter RS. Child Care Health Dev 2003; 29(1): 55-61. http://dx.doi.org/10.1046/j.1365-2214.2003.00311.x DOI: https://doi.org/10.1046/j.1365-2214.2003.00311.x
DSM-IV-TR. Diagnostic and Statistical Manual of Mental Disorders. IV edition, Text Revision. Washington, DC: American Psychiatric Association 2000.
Partington M, Turner G. Wolf-Hirschhorn and Pitt-Rogers-Danks syndromes. Am J Med Genet 1999; 82(1): 88-90. http://dx.doi.org/10.1002/(SICI)1096-8628(19990101)82:1<88::AID-AJMG17>3.0.CO;2-0 DOI: https://doi.org/10.1002/(SICI)1096-8628(19990101)82:1<88::AID-AJMG17>3.3.CO;2-S
McGill P, Langthorne P. Investigation of adaptive and maladaptive behavior in people with Wolf–Hirschhorn Syndrome. Canterbury: Tizard Centre 2009.
Pizzamiglio MR. La Riabilitazione neuropsicologica in età evolutiva. Ed. Franco Angeli 2003.
Sabbadini M, Bombardi P, Carlesimo GA, Rosato V, Pierro M. Evaluation of communicative and functional abilities in Wolf-Hirshhorn syndrome. J Intellect Disabil Res 2002; 46(Pt 7): 575-82. http://dx.doi.org/10.1046/j.1365-2788.2002.00441.x DOI: https://doi.org/10.1046/j.1365-2788.2002.00441.x
Downloads
Published
How to Cite
Issue
Section
