Dysgraphia as a mild expression of dystonia in children with absence epilepsy

PLoS ONE

Volumn 10, Issue 7, 2015, Pages

  Guerrini, Renzo ^a,b   Melani, Federico ^a   Brancati, Claudia ^a   Ferrari, Anna Rita ^b   Brovedani, Paola ^b   Biggeri, Annibale ^c   Grisotto, Laura ^c   Pellacani, Simona ^a,b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GLUCOSE TRANSPORTER 1;

ABSENCE; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSGRAPHIA; DYSTONIA; EYELID REFLEX; FEMALE; GENETIC SCREENING; HANDWRITING; HIGH RISK PATIENT; HUMAN; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROPHYSIOLOGY; PRESCHOOL CHILD; PREVALENCE; RISK ASSESSMENT; RISK FACTOR; SCHOOL CHILD; SCORING SYSTEM; SLC2A1 GENE; ADOLESCENT; AGRAPHIA; CASE CONTROL STUDY; COMPLICATION; EPILEPSY, ABSENCE;

ADOLESCENT; AGRAPHIA; CASE-CONTROL STUDIES; CHILD; DYSTONIA; EPILEPSY, ABSENCE; FEMALE; HANDWRITING; HUMANS; MALE;

EID: 84940055365     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0130883     Document Type: Article

References (39)

1. Leary LD, Wang D, Nordli DR, Engelstad K, De Vivo DC. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003; 44: 701-707. PMID: 12752470
2. Du W, Bautista JF, Yang H, Diez-Sampedro A, You SA, Wang L et al. Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nat Genet 2005; 37: 733-738. PMID: 15937479
3. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG et al. Mutant GABA(A) receptor gamma-2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001; 28: 49-52. PMID: 11326275
4. Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T et al. Coding and non coding variations of the human calcium-chanel β4 subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000; 66: 1531-1539. PMID: 10762541
5. Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 2001; 358: 801-807. PMID: 11564488
6. Haug K, Warnstedt M, Alekov AK, Sander T, Ramìrez A, Poser B et al. Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003; 33: 527-532. PMID: 12612585
7. Guerrini R, Sanchez-Carpintero R, Deonna T, Santucci M, Bhatia KP, Moreno T et al. Early-onset absence epilepsy and paroxysmal dyskinesia. Epilepsia 2002; 43:1224-1229. PMID: 12366739
8. Deuel RK. Developmental dysgraphia and motor skills disorders. J Child Neurol 1995; 10: S6-8. PMID: 7538525
9. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition. Washington, DC: American Psychiatric Association; 2013.
10. Karlsdottir R and Stefansson T. Problems in developing functional handwriting. Percept Mot Skills 2002; 94: 623-662. PMID: 12027360
11. Smith-Engelsman BCM, Niemeijer AS, Van Galen GP. Fine motor deficies in children diagnosed as DCD based on poor grapho-motor ability. Hum Mov Sci 2001; 20: 161-182. PMID: 11471395
12. Riva D, Nichelli F, Devoti M. Developmental aspects of verbal fluency and confrontation naming in children. Brain Lang 2000; 71: 267-84. PMID: 10716861
13. Sartori G, Job R, Tressoldi PE, editors. [Battery for the assessment of developmental dyslexia and dysorthographia]. Batteria per la valutazione della dislessia e della disortografia evolutiva. Florence: Giunti OS; 1995.
14. Tressoldi PE, Cornoldi C, editors [Battery for the assessment of writing skills of children from 7 to 13 years old]. Batteria per la valutazione della scrittura e della competenza ortografica nella scuola dell'obbligo. Florence: Giunti OS; 2000.
15. Bisiacchi P, Cendron M., Gugliotta M, Tressoldi PE, Vio C, editors. [Neuropsychological battery for children 5-11 years old]. BVN 5-11. Batteria di valutazione neuropsicologica per l'età evolutiva. Trento: Erickson; 2005.
16. Gugliotta M, Bisiacchi PS, Cendron M, Tressoldi PE, Vio C, editors. [Neuropsychological battery for adolescents 12-18 years old]. BVN 12-18. Batteria di valutazione neuropsicologica per l'adolescenza. Trento: Erickson; 2009.
17. Beery KE, Buktenica NA, Beery NA, editors. The Beery-Buktenica developmental test of visual-motor integration: administration, scoring and teaching manual. Minneapolis: Pearson; 2004.
18. Tressoldi PE, Cornoldi C, editors. [Battery for the assessment of writing skills of children from 7 to 13 years old]. Batteria per la valutazione della scrittura e della competenza ortografica nella scuola dell'obbligo. Florence: Giunti OS; 2000.
19. Borean M, Paciulli G, Bravar L, Zoia S, editors. [DGM-P: graph-motor and postural difficulties of handwriting test]. DGM-P: test per la valutazione delle difficoltà grafo-motorie e posturali della scrittura Trento: Erickson; 2012.
20. Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: A consensus update. Mov Disord 2013; 28: 863-873. doi: 10.1002/mds.25475 PMID: 23649720
21. Sanger TD, Chen D, Fehlings DL, Hallett M, Lang AE, Mink JW, et al. Definition and classification of hyperkinetic movements in childhood. Mov Disord 2010; 25: 1538-1549. doi: 10.1002/mds.23088 PMID: 20589866
22. Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R. Early-onset absence epilepsy caused by mutation in the glucose transporter GLUT1. Ann Neurol 2009; 66:415-419. doi: 10.1002/ ana.21724 PMID: 19798636
23. Berardelli A, Rothwell JC, Day BL, Marsden CD. Pathophysiology of blepharospasm and oromandibular dystonia. Brain 1985; 108: 593-608. PMID: 4041776
24. Tolosa E, Montserrat L, Bayes A. Blink reflex studies in focal dystonias: enhanced excitability of brainstem interneurons in cranial dystonia and spasmodic torticollis. Mov Disord 1988; 3: 61-69. PMID: 3173365
25. Pauletti G, Berardelli A, Cruccu G, Agostino R, Manfredi M. Blink reflex and the masseter inhibitory reflex in patients with dystonia. Mov Disord. 1993; 8: 495-500. PMID: 8232360
26. Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 1999; 45: 344-352. PMID: 10072049
27. Esteban A. A neurophysiological approach to brainstem reflexes. Blink reflex. Neurophysiol Clin 1999; 29: 7-38. PMID: 10093816
28. Aramideh M, Eekhof JL, Bour LJ, Koelman JH, Speelman JD, Ongerboer de Visser BW. Electromyography and recovery of the blink reflex in involuntary eyelid closure: a comparative study. Journal of Neurology, Neurosurgery and Psychiatry 1995; 58: 692-698. PMID: 7608667
29. Quartarone A, Hallett M. Emerging concepts in the physiological basis of dystonia. Mov Disord 2013; 28: 958-967. doi: 10.1002/mds.25532 PMID: 23893452
30. Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD. The pathophysiology of primary dystonia. Brain 1998; 121:1195-1212. PMID: 9679773
31. Deransart C, Vercueil L, Marescaux C, Depaulis A. The role of basal ganglia in the control of generalized absence seizures. Epilepsy Res 1998; 32: 213-223. PMID: 9761322
32. Slaght SJ, Paz T, Chavez M, Deniau JM, Mahon S, Charpier S. On the activity of the corticostriatal networks during spike and wave discharged in a genetic model of absence epilepsy. J Neurosci 2004; 28: 6816-6825.
33. Paz T, Deniau JM, Charpier S. Rhythmic bursting in the cortico-subthalamo-pallidal network during spontaneous genetically determined spike and wave discharged. J Neurosci 2005; 25: 2092-2101. PMID: 15728849
34. Moeller F, Siebner HR, Wolff S, Muhle H, Granert O, Jansen O et al. Simultaneous EEG-fMRI in drugnaive children with newly diagnosed absence epilepsy. Epilepsia 2008; 49:1510-1519. doi: 10.1111/j. 1528-1167.2008.01626.x PMID: 18435752
35. Luo C, Xia Y, Li Q, Xue K, Lai Y, Gong Q et al. Diffusion and volumetry abnormalities in subcortical nuclei of patients with absence seizures. Epilepsia 2011; 52: 1092-1099. doi: 10.1111/j.1528-1167. 2011.03045.x PMID: 21453358
36. Guerrini R. Idiopathic epilepsy and paroxysmal dyskinesia. Epilepsia 2001; 42 (Suppl 3): S36-41.
37. Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51:676-685. doi: 10.1111/j.1528-1167.2010. 02522.x PMID: 20196795
38. Berkovic SF, Andermann F, Andermann E, Gloor P. Concepts of absence epilepsies: discrete syndromes or biological continuum? Neurology 1987; 37:993-1000. PMID: 3108696
39. McHale K, Cermak SA. Fine motor activities in elementary school:preliminary findings and provisional implications for children with fine motor problems. Am J Occup Ther 1992; 46: 898-903. PMID: 1463061