DYSTONIA IN CHILDREN (A LECTURE)

Distonia is a movement disorder associated with imbalance of excitatory neurotransmitters, and it is characterized by continuous or episodic muscle contraction that forms repetitive stereotyped movements and/or postures. Dystonic hyperkinesia of younger children can be included into the structure of many syndromes that have different etiological factors, prognosis, and treatment. Different clinical variant of dystonia are represented: idiopathic benign dystonia with the onset in the first year of life; dystonia against the background of residual damage to the nervous system; hereditary idiopathic and symptomatic dystonia with various syndromes and metabolic diseases; similar conditions. Diagnostics of dystonia of children requires application of a wide range of examinations, including neuroimaging, continuous video electroencephalographic monitoring, genetic research. Differential diagnosis of dystonia of children is performed regarding various paroxysmal states of childhood of the epileptic and non-epileptic nature.

1. Артемьев Д.В. Лечение болезни Паркинсона в молодом возрасте. Неврология, нейропсихиатрия, психосоматика 2010;(3): 6–11. [Artemiyev D.V. Treatment of parkinson's disease at a young age. Neurology, Neuropsychiatry, Psychosomatics 2010;(3):6–11. (In Russ.)].

2. Белоусова Е.Д. Пароксизмальные дискинезии – актуальная проблема детской неврологии. Российский вестник перинатологии и педиатрии 2006;51(4):47–52. [Belousova E.D. Paroxysmal dyskinesia as an actual problem of children's neurology. Russian Bulletin of Perinatology and Pediatrics 2006;51(4):47–52. (In Russ.)].

3. Блейлер Е. Руководство по психиатрии. М.: Изд-во Независимой психиатрической ассоциации, 1993. 573 с. [Bleiler E. Manual in Psychiatry. Moscow: Publishing House of the Independent Psychiatric Association, 1993. 573 p. (In Russ.)].

4. Бобылова М.Ю., Ильина Е.С., Пилия С.В. и др. Пароксизмальные дискинезии: дифференциальный диагноз с эпилепсиями. Лечащий врач 2006;(5):22–7. [Bobylova M.Yu., Ilyina E.S., Piliya S.V. et al. Paroxysmal dyskinesia: differential diagnosis with epilepsies. Lechashchiy Vrach (Attending physician) 2006;(5):22–7. (In Russ.)].

5. Бобылова М.Ю., Козловский А.С., Полюдов С.А. и др. Синдром Сандифера под «маской» кривошеи: клиническое наблюдение. Педиатрия 2009;87(3):144–7. [Bobylova M.Yu., Kozlovskiy A.S., Polyudov S.A. et al. Sandifer syndrome under the “mask” of torticollis: clinical observation. Pediatrics 2009;87(3):144–7. (In Russ.)].

6. Бобылова М.Ю., Михайлова С.В., Гринио Л.П. Дофа-зависимая дистония (болезнь Сегавы). Журнал неврологии и психиатрии им. С.С. Корсакова 2009;109(8):73–6. [Bobylova M.Yu., Mikhailova S.V., Grinio L.P. Dopa-sensitive dystonia (Segawa disease). S.S. Korsakov Journal of Neurology and Psychiatrics 2009;109(8):73–6. (In Russ.)].

7. Залялова З.А. Современные классификации мышечных дистоний, стратегия лечения. Журнал неврологии и психиатрии им. С.С. Корсакова 2013;113(3):85–9. [Zalyalova Z.A. Modern classifications of muscular dystonia, treatment strategy. S.S. Korsakov Journal of Neurology and Psychiatrics 2013;113(3):85–9. (In Russ.)].

8. Зыков В.П., Айвазян С.О., Бегашева О.И., Зыков Е.В. Дифференциальная диагностика гиперкинезов с эпилептическими приступами у детей. В кн.: Эпилептология в медицине XXI века. Под ред. Е.И. Гусева, А.Б. Гехт. М.: Изд-во ЗАО «Светлица», 2009. С. 145–51. [Zykov V.P., Aivazyan S.O., egasheva O.I., Zykov E.V. Differential diagnostics of hyperkinesia with epileptic seizures of children. In: pileptology in the medicine of the XXI century. E.I. Gusev, A.B. Gecht (eds.). Moscow: Publishing House “Svetlitsa”, 2009. Pp. 145–51. (In Russ.)].

9. Краснов М.Ю., Тимербаева С.Л., Иллариошкин С.Н. Генетика наследственных форм дистонии. Анналы неврологии 2013;(2):55–62. [Krasnov M.Yu., Timerbayeva S.L., Illarioshkin S.N. Genetics of hereditary forms of dystonia. Annals of Neurology 2013;(2):55–62. (In Russ.)].

10. Михайлова С.В., Захарова Е.Ю., Петрухин А.С. Нейрометаболические заболевания у детей и подростков. Диагностика и подходы к лечению. М.: Литтерра, 2011. 241 с. [Mikhailova S.V., Zakharova E.Yu., Petrukhin A.S. Neurometabolic diseases of children and adolescents. Diagnostics and approaches to therapy. Moscow: Litterra, 2011. 241 p. (In Russ.)].

11. Окунева И.В., Бобылова М.Ю., Какаулина В.С., Нестеровский Ю.Е. Доброкачественный пароксизмальный тортиколис младенчества. Русский журнал детской неврологии 2013;8(2):41–6. [Okuneva I.V., Bobylova M.Yu., Kakaulina V.S., Nesterovskiy Yu.E. Benign paroxysmal torticollis of early infancy. Russian Journal of Child Neurology 2013;8(2):41–6. (In Russ.)].

12. Петрухин А.С. Неврология детского возраста. М.: Медицина, 2004. С. 646–8. [Petrukhin A.S. Neurology of childhood. Moscow: Medicine, 2004. Pp. 646–8. (In Russ.)].

13. Руденская Г.Е., Захарова Е.Ю., Бессонова Л.Ю. и др. Синдром Леша Найхана: фенотипическое разнообразие и ДНК-диагностика. Медицинская генетика 2010;(9):41–8. [Rudenskaya G.E., Zakharova E.Yu., Bessonova L.Yu. et al. Lesch–Nyhan syndrome: phenotypic diversity and DNA diagnostics. Medical Genetics 2010;(9):41–8. (In Russ.)].

14. Семенова К.А. Восстановительное лечение детей с перинатальным поражением нервной системы и с детским церебральным параличом. М.: Закон и порядок, 2007. 616 с. [Semyonova K.A. Rehabilitation therapy of children with perinatal lesions of the nervous system and infantile cerebral paralysis. Moscow: Zakon i Poryadok, 2007. 616 p. (In Russ.)].

15. Столбова Е.А. Использование пролонгированной записи электроэнцефалографии в диагностике пароксизмальной дистонии. Вятский медицинский вестник 2012;(2):35–8. [Stolbova E.A. Use of prolonged EEG recording for diagnostics of paroxysmal dystonia. Vyatka Medical Herald 2012;(2):35–8. (In Russ.)].

16. Томский А.А., Шабалов В.А., Декопов А.В. и др. Результаты двусторонней электростимуляции медиального сегмента бледного шара при торсионной дистонии. В кн.: Болезнь Паркинсона и асстройства движений. Под ред. С.Н. Иллариошкина, Н.Н. Яхно. М.: ООО «Диалог», 2008. С. 230–5.

17. [Tomskiy A.A., Shabalov V.A., Dekopov A.V. et al. Results of bilateral electrical stimulation of the medial segment of the globus pallidus with torsion dystonia. In: Parkinson's disease and movement disorders. S.N. Illarioshkin, N.N. Yakhno (eds.). Moscow: Dialog LLC, 2008. Pp. 230–5. (In Russ.)].

18. Ходжаева Л.Ю., Ходжаева С.Б. Дифференциальная диагностика кривошеи у детей первого года жизни. Травматология и ортопедия России 2011;3(61):68–72.

19. [Khodjayeva L.Yu., Khodjayeva S.B. Differential diagnostics of torticollis of infants. Traumatology and Orthopedics in Russia 2011;3(61):68–72. (In Russ.)].

20. Albanese A., Jankovic J. Hyperkinetic movement disorders: differential diagnosis and treatment. Oxford: Wiley-Blackwell, 2012. 402 p.

21. Alden T.D., Lytle R.A., Park T.S. et al. Intrathecal baclofen withdrawal: a case report and review of the literature. Childs Nerv Syst 2002;18(9–10):522–5.

22. Breakefield X.O., Blood A.J., Li Y. et al. The pathophysiological basis of dystonias. Nat Rev Neurosci 2008;9(3):222–34.

23. Bressman S.B. Dystonia genotypes, phenotypes, and classification. Adv Neurol 2004;(94):101–7.

24. Bourgeois M., Aicardi J., Goutieres F. Alternating hemiplegia of childhood. J Pediatr 1993;122(5 Pt 1):673–9.

25. de Vries B., Stam A.H., Beker F. et al. CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood. Cephalalgia 2008;28(8):887–91.

26. Fahn S. Concept and classification of dystonia. Adv Neurol 1988;(50):1–8.

27. Fahn S., Marsden C.D., Calne D.B. Classification and investigation of dystonia. In: Marsden C.D., Fahn S. (eds.) Movement Disorders 2. London: Butterworths, 1987. Рр. 332–58.

28. Fernandez-Alvarez E., Aicardi J. Movement disoders in children. ICNA, 2001. Рр. 79–129.

29. Gottlob I., Wizov S.S., Reinecke R.D. Spasmus Nutans. A Long-term Follow-up. Invest Ophthalmol Vis Sci 1995;36(13):2768–71.

30. Guerrini R., Belmonte A., Carrozzo R. Paroxysmal tonic upgaze of childhood withataxia: a benign transient dystonia with autosomal dominant inheritance. Brain Dev 1998;20(2):116–8.

31. Heinzen E.L., Swoboda K.J., Hitomi Y. et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 2012;44(9):1030–4.

32. Kanavakis E., Xaidara A., Papathanasiou- Klontza D. et al. Alternating hemiplegia of childhood: a syndrome inherited with an autosomal dominant trait. Dev Med Child Neurol 2003;45(12):833–6.

33. Leigh R.J. Zee D.S. The neurology of eye movements. 3rd ed. Oxford University Press, 1999. 646 p.

34. Manji H., Howard R.S., Miller D.H. et al. Status dystonicus: the syndrome and its management. Brain 1998;121(Pt 2):243–52.

35. Mariotti P., Fasano A., Contarino M.F. et al. Management of status dystonicus: our experience and review of the literature. Mov Disord 2007;22(7):963–8.

36. Mikati M.A., Kramer U., Zupanc M.L. et al. Alternating hemiplegia of childhood: clinical manifestations and long-term outcome. Pediatr Neurol 2000;23(2): 134–41.

37. Nickisch A., Massinger C., Ertl-Wagner B., von Voss H. Pedaudiologic findings after severe neonatal hyperbilirubinemia. Eur Arch Otorhinolaryngol 2009;266(2):207–12

38. Opal P., Tintner R., Jankovic J. et al. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord 2002;17(25):339–45.

39. Ouvrier R.A., Billson F. Benign paroxysmal tonic upgaze of childhood. J Child Neurol 1988;3(3):177–80.

40. Panagiotakaki E., Gobbi G., Neville B. et al. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Brain 2010;133(Pt 12):3598–610.

41. Silver K., Andermann F. Alternating hemiplegia of childhood: a study of 10 patients and results of flunarizine treatment. Neurology 1993;43(1):36–41.

42. Singer H.S., Mink J.W., Gilbert D.L., Jankovic J. Movement disorders in children. Saunders Elsever, 2010. 288 p.

43. Sweney M.T., Silver K., Gerard-Blanluet M. et al. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics 2009;123(3):534–41.

44. Zorzi G., Marras C., Nardocci N. et al. Stimulation of the globus pallidus internus for childhood-onset dystonia. Mov Disord 2005;20(9):1194–200.