Липковская В.В. Общая характеристика нарушения развития детей при нейрофиброматозе I типа

Тип статьи: информационно-аналитическая

Страницы: 10-18

Автор:

Липковская Вера Витальевна,

кандидат юридических наук. Студентка дефектологического отделения

Московского института психоанализа.

E-mail: vera_lipkovskaya@mail.ru

Аннотация

Аннотация. 

В настоящей статье рассмотрены клиническая картина нейрофиброматоза I типа и общая характеристика нарушений развития детей при данном заболевании. Также обобщаются результаты зарубежных исследований, касающихся наиболее характерных для болезни нарушений развития, затрагивающих моторику, речь, письмо, визуально-пространственное восприятие, включающих также проявление признаков расстройств аутистического спектра, дефицита внимания и гиперактивности.

Ключевые слова: нейрофиброматоз I типа, нарушения развития, трудности обучения, специфика проявлений расстройств аутистического спектра, синдрома дефицита внимания и гиперактивности.

ОПИСАНИЕ НА АНГЛИЙСКОМ ЯЗЫКЕ:

General Characteristics of Developmental Deficits of Children with Neurofibromatosis Type I

Author:

Lipkovskaya Vera V.

Ph.D. in Law, Student of Defectology Dept., Institute of Psychoanalysis, Moscow, Russia

E-mail: vera_lipkovskaya@mail.ru

Annotation.

The present article describes the clinical picture of neurfibromatosis type 1 and the general characteristics of developmental deficits of children with this disease. The results of foreign studies concerning the most typical developmental disorders affecting motor skills, speech, writing, visual and spatial perception, including the manifestation of signs of ASD, ADHD are also summarized.

Key words: neurofibromatosis type 1, developmental deficits, learning difficulties, specific manifestations of autism spectrum disorder (ASD), attention deficit/hyperactivity disorder (ADHD).

Литература

1.            Иванов Е.С., Демьянчук Л.Н., Демьянчук Р.В. Детский аутизм: диагностика и коррекция: учеб. пособие. СПб. 2004.

2.            Информационный сайт Национального института неврологических расстройств и инсульта https://www.ninds.nih.gov/Disorders/All-Disorders/Attention-Deficit-Hyperactivity-Disorder-Information-Page.

3.            A Neuropsychological Perspective on Attention Problems in Neurofibromatosis Type 1. Alexandra K. Templer, Jeffrey B. Titus and David H. Gutmann. Journal of Attention Disorders 2013 17: 489.

4.            Adaptive Behavior in Young Children with Neurofibromatosis Type 1 Bonita P. Klein-Tasman, Alina M. Colon, Natalie Brei, Faye van der Fluit, Christina L. Casnar, Kelly M. Janke, Donald Basel, Dawn H. Siegel, and Jasmine A. Walker. International Journal of Pediatrics Volume 2013, Article ID 690432.

5.            Adviento B, Corbin IL, Widjaja F, et al. Autism traits in the RASopathies. J Med Genet 2014; 51(1):10–20.

6.            American Psychiatric Association. (1994) Diagnostic and Statistical Manual of Mental Disorders. 4th edn. Washington, DC: American Psychiatric Association.

7.            Attention Skills in Children With Neurofibromatosis Type 1. Jill C. Isenberg, Alexandra Templer, Feng Gao, Jeffrey B. Titus and David H. Gutmann. J Child Neurol 2013, 28.

8.            Cognitive and Psychosocial Phenotype of Young Children with Neurofibromatosis-1. Bonita P. Klein-Tasman, Kelly M. Janke et al. J Int Neuropsychol Soc. 2014 January; 20(1): 88–98.

9.            Cutting, Clements, Lightman, Yerby-Hammack, & Denckla, 2004; Ferner, Hughes, & Weinman, 1996.

10.         Cutting LE, Koth CW, Denckla MB. 2000. How children with neurofibromatosis type 1 differ from ‘‘typical’’ learning disabled clinic attenders: Nonverbal learning disabilities revisited. Dev Neuropsychol 17(1): 29–47.

11.         Descheemaeker MJ, Ghesquie`re P, Symons H, Fryns JP, Legius E. Behavioural, academic and neuropsychological profile of normally gifted neurofibromatosis type 1 children. J Intellect Disabil Res 2005;49:33–46

12.         Diagnostic and Statistical Manual of Mental Disorders (DSM).

13.         Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1. A Study of the International NF1-ASD Consortium Team (INFACT). Morris SM, Acosta MT, Garg S, Green J, Huson S, Legius E, North KN, Payne JM, Plasschaert E, Frazier TW, Weiss LA, Zhang Y, Gutmann DH, Constantino JN. JAMA Psychiatry. 2016 Dec 1;73(12): 1276–1284.

14.         Garg S, Green J, Leadbitter K, et al. Neurofibromatosis type 1 and autism spectrum disorder. Pediatrics 2013;132(6): 1642-8; Walsh KS, Velez JI, Kardel PG, et al. Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol 2013;55(2): 131-8.

15.         Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology 2005; 65(7): 1037-44.

16.         Hyman, S.L., Arthur, E., & North, K.N. (2006). Learning disabilities in children with neurofibromatosis Type 1: Subtypes, cognitive profile, and attention-deficit-hyperactivity disorder. Developmental Medicine & Child Neurology, 48, 973–977.

17.         Introduction to the Cognitive and Social Development of Children with Neurofibromatosis Type 1. Maria T. Acosta, Caroline Stephens and Bruce Korf. Children’s Tumor Foundation, 2016.

18.         Katherine E Schwetye & David H Gutmann (2014) Cognitive and behavioral problems in children with neurofibromatosis type 1: challenges and future directions, Expert Review of Neurotherapeutics, 14:10, 1139–1152.

19.         Kayl AE, Moore 3rd BD. Behavioral phenotype of neurofibromatosis, type 1. Ment Retard Dev Disabil Res Rev 2000; 6: 117–24.

20.         Lehtonen A, Howie E, Trump D, Huson SM. Behaviour in children with neurofibromatosis type 1: cognition, executive function, attention, emotion, and social competence. Dev Med Child Neurol 2013; 55(2): 111-25.

21.         Neurofibromatosis type 1. Jacqueline I. Anderson and David H. Gutmann. Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

22.         Neuropsychological deficits in adults with Neurofibromatosis type 1. Zoller MET, Rembeck B, Backman L. Neuropsychological deficits in adults with Neurofibromatosis type 1. Acta Neurol Scand 1997: 95: 225–232. Munksgaard 1997.

23.         Noll RB, Reiter-Purtill J, Moore BD, Schorry EK, Lovell AM, Vannatta K, Gerhardt C.A. 2007. Social, emotional, and behavioral functioning of children with NF1. Am J Med Genet Part A 143A:2261–2273.

24.         North K, Gutmann DH. International Child Neurology Association. Neurofibromatosis type 1 in childhood. Mac Keith Press, for the International Child Neurology Association; London, England: 1997.

25.         Riccardi V, Eichner J, editors. 1986. Neurofibromatosis, natural history, and pathogenesis. Baltimore: Johns Hopkins University Press.

26.         Shriberg L, Kwiatkowski J. 1988. A Follow-up study of children with phonologic disorders of unknown origin. Jour J Speech Hear Disord 53: 144–155.

27.         Social skills of children with neurofibromatosis type 1. Belinda Barton, Kathryn North. Developmental Medicine & Child Neurology 2004, 46: 553–563.

28.         Underlying mechanisms of writing difficulties among children with Neurofibromatosis type 1. Yafit Gilboa, Naomi Josman, Aviva Fattal-Valevski, Hagit Toledano-Alhadef, Sara Rosenblum. Research in Developmental Disabilities 35 (2014) 1310–1316.

29.         Varnhagen C.K, Lewin S, Das J.P, et al. Neurofibromatosis and psychological processes. J Dev Behav Pediatr 1988;9(5): 257-65.

30.         Volman, M.J., van Schendel, B. M., & Jongmans, M. J. (2006). Handwriting difficulties in primary school children: A search for underlying mechanisms. American Journal of Occupational Therapy, 60(4), 451–460.

31.         Walsh KS, Velez JI, Kardel PG, et al. Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1. Dev Med Child Neurol 2013; 55(2):131-8.