DIAGNOSTIC VALUE OF CONVENTIONAL CYTOGENETIC ANALYSIS IN SELECTED CHILDREN WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER.
- Pediatrics Department, Faculty of Medicine, Al-Azhar University, Cairo, Egypt. Psychiatry Department, Faculty of Medicine, Al-Azhar University, Cairo, Egypt. Clinical Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
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Introduction: Attention deficit hyperactivity disorder (ADHD) is a wide spread, highly heritable, disruptive, childhood-onset condition, the etiology and pathogenesis of which is poorly understood. ADHD in children have been associated with several cytogenetic aberrations. The most remarkable of these include; sex chromosome aneuploidies, fragile X syndrome, velocardiofacial syndrome, certain balanced translocations, and others. Some researchers have suggested that cytogenetic analysis should be considered in children with ADHD. However, most evidence to date suggests that these abnormalities are found with increased frequency in ADHD children with positive family history or abnormal clinical signs. Objective: The main goal of this study is to assess the potential diagnostic value of conventional cytogenetic analysis (karyotyping) in ADHD children with positive family history and / or abnormal clinical signs. Method: Blood samples were obtained from 19 ADHD children (13 boys) with positive family history and / or abnormal clinical signs, and analyzed for the presence of cytogenetic abnormalities using high resolution chromosomal banding. Results: three cases had chromosomal abnormalities. Two of them had numerical sex chromosome abnormalities; one had Klinefelter syndrome (47, XXY), while the other had triple X syndrome (47, XXX). The third case had balanced translocation as follow; [46,XY,t(4;21)(p16;q22.1)]. By comparing these findings with their respective prevalence among live births, there was highly significant statistical difference, which indicates high diagnostic value of karyotyping with these selection criteria. Conclusions: In the presence of abnormal clinical signs or positive family history, the cytogenetic assessments are indicated for children with ADHD as a component of investigations of this disorder.
- B?descu GM1, Fîlfan M, Sandu RE, Surugiu R, Ciobanu O, Popa-Wagner A. Molecular mechanisms underlying neurodevelopmental disorders, ADHD and autism. Rom J Morphol Embryol. 2016;57(2):361-6. PMID: 27516006
- American Psychiatric Association. Diagnostic and statistical manual of mental disorders, 5th edition. Washington: American Psychiatric Association, 2013.
- Thapar A and Cooper M. Attention deficit hyperactivity disorder. The Lancet. 2016Mar;387(10024):1240–50. DOI: http://dx.doi.org/10.1016/S0140-6736(15)00238-X
- Millichap JG.Etiologic classification of attention-deficit/hyperactivity disorder. 2008 Feb;121(2):e358-65.doi: 10.1542/peds.2007-1332.
- Faraone SV and Mick E. Molecular Genetics of Attention Deficit Hyperactivity Disorder. Psychiatr Clin North Am. 2010Mar;33(1):159–180. doi: 10.1016/j.psc.2009.12.004.
- Bastain TM, Lewczyk CM, Sharp WS, et al. Cytogenetic abnormalities in attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2002;41:806–810. PMID:12108805
- Farag S. The Stanford-Binet Intelligence Scale: Arabic Examiner‘s Handbook, 5th ed. Cairo: Anglo Egyptian Bookshop, 2011.
- Gosden CM, Davidson C, Robertson M. Lymphocyte culture. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetic: A Practical Approach. 2nd Ed. 4th vol. New York, USA: Oxford IRL Press; 1992. pp. 31–54.
- Benn PA, Perle MA. Chromosome staining and banding. In: Rooney DE, Czepulkowski BH, editors. Human Cytogenetic: A Practical Approach. 2nd ed. 4th vol. New York, USA: Oxford IRL Press; 1992. pp. 91–118.
- Seabright M. A rapid banding technique for human chromosomes. 1971;2:971–972.
- Shaffer LG, Slovak ML, Campbell LJ. An International System for Human Cytogenetic Nomenclature (ISCN) Basel, Switzerland: S. Karger Publishers, Inc.; 2009.
- Hsu LYF. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Genetic disorders and the fetus, 4th ed, Milunsky A (Ed), The Johns Hopkins University Press, Baltimore 1998. p.179.
- Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87:81–83
- Caroline Mackie Ogilvie; Paul N Scriven. \"Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos\". European Journal of Human Genetics. European Society of Human Genetics. December 2002;10 (12): 801–806. doi:10.1038/sj.ejhg.5200895. PMID 12461686.
- Amiri S, Fakhari A, Maheri M, Mohammad A. Attention deficit/hyperactivity disorder in primary school children of Tabriz, North-West Iran. Pediatric Periapt Epidemiol 2010;24:597-601.
- Cardo E, Bustillo M, Servera M. The predictive value of DSM-IV criteria in the diagnosis of attention deficit hyperactivity disorder and its cultural differences. Rev Neurol 2007; 44: 19-22.
- Kashala E, Tylleskar T, ElgeKayembe KT, and Sommerfelt K. Attention Deficit Hyperactivity Disorder Among School Children in Kinshasa, Democratic Republic of Congo, Afr Health Sci 2005; 5: 172-181.
- Montiel-Nava C, Montiel-Barbero I, Peña JA. Clinical presentation of Attention deficit hyperactivity disorder as a function of the gender. Invest Clin 2007; 48:459-68.
- Pelham WE, Fabiano GA, Massetti GM. Evidence-based assessment of attention-deficit hyperactivity disorder in children and adolescents. J. Clin Child Adolesc Psychol 2006;34: 449-476.
- Possa A, Spanemberg L, Guardiola A. Attention-deficit hyperactivity disorder co-morbidity in a school sample of children. Arq Neuropsyquiatria 2005; 63:479-83.
- Farooqi A, Hagglof B, Sedin G, Gothefors L, Serenius F. Mental health and social competencies of 10 to 12 year old children born at 23 to 25 weeks of gestation in the 1990s: a Swedish national prospective follow-up study. Pediatrics 2007;120:118 –133.
- Delobel-Ayoub M, Arnaud C, White-Koning M, Casper C, Pierrat V, Garel M, et al. Behavioral problems and cognitive performance at 5 years of age after very preterm birth: the EPIPAGE Study. Pediatrics 2009; 123:1485–1492.
- Valdimarsdottir M, Hrafnsdottir AH, Magnosson P. The frequency of some factors in pregnancy and delivery for Icelandic children with ADHD. Laeknabladid 2006; 92:609-614.
- Lou H. C. Etiology and pathogenesis of attention-deficit hyperactivity disorder (ADHD): significance of prematurity and perinatal hypoxic-haemodynamic encephalopathy. Acta Paediatrica. 1996;85(11):1266–1271. doi: 10.1111/j.1651-2227.1996.tb13909.x.
- Lindstrom K, Lindblad F, Hjern A. Preterm Birth and Attention-Deficit/Hyperactivity Disorder in Schoolchildren.Pediatrics 2011; 127: 858 -865.
- Tartaglia NR, Ayari N, Hutaff-Lee C, Boada R. Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. J Dev Behav Pediatr. 2012 May;33(4):309-18. doi: 10.1097/DBP.0b013e31824501c8.
- Pacenza N, Pasqualini T, Gottlieb S, et al.Clinical Presentation of Klinefelter\'s Syndrome: Differences According to AgeInternational Journal of Endocrinology. Volume 2012, Article ID 324835. doi:10.1155/2012/324835
- Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8.
- Nagle MW, Latourelle JC, Labadorf A, Dumitriu A, Hadzi TC, Beach TG, Myers RH. The 4p16.3 Parkinson Disease Risk Locus Is Associated with GAK Expression and Genes Involved with the Synaptic Vesicle Membrane. PLoS One. 2016 Aug 10;11(8):e0160925. doi: 10.1371/journal.pone.0s160925. eCollection 2016.
[Mohamed Abdel Malik Hassan, Ali Alnabawy and Shaimaa Abdelmalik Pessar. (2017); DIAGNOSTIC VALUE OF CONVENTIONAL CYTOGENETIC ANALYSIS IN SELECTED CHILDREN WITH ATTENTION-DEFICIT HYPERACTIVITY DISORDER. Int. J. of Adv. Res. 5 (1). 639-646] (ISSN 2320-5407). www.journalijar.com
lecturer of clinical pathology, Faculty of medicine, Ain Shams university
Article DOI: 10.21474/IJAR01/2792 DOI URL: http://dx.doi.org/10.21474/IJAR01/2792
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