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Autism and Developmental Disorders

Publisher: Moscow State University of Psychology and Education

ISSN (printed version): 1994-1617

ISSN (online): 2413-4317


Started in 2003

Published quarterly

Free of fees
Open Access Journal


A complex approach in the diagnostics of children with ASD. FMR1 gene mutation clinical case

Pereverzeva D.S., Junior Research Associate, Center of Neurobiological Diagnostics of Hereditary Mental Diseases of Children and Adolescents, MCUPE,
Mamokhina U. A., Junior Researcher,, R&EC «Neurobiological Diagnostics of Hereditary Mental Disor¬ders of Children and Adolescents», MSUPE, Moscow, Russia,
Danilina K.K.
Tyushkevich S. A., Ph.D. in Psychology, senior researcher, , R&EC «Neurobiological Diagnostics of He¬reditary Mental Disorders of Children and Adolescents», MSUPE, Moscow, Russia,
The importance of developing a model of initial support for a child with suspicion of an autism spectrum disorder is underlined. The main principles of the diagnostic examination, which are based on the interaction between specialists of various profiles, are listed. The primary importance of strict compliance with the diagnostic protocol, which allows fully describe the disease pattern is substantiated. The model is illustrated by a critical analysis of the clinical case in which the principles of the child’s examination were not followed.

Keywords: autism spectrum disorders, autism, diagnostic protocol, multidisciplinary approach, FMR1 gene


For Reference

  1. Gorbachevskaya N.L. Elektroentsefalogramma detei s sindromal’nymi formami psikhicheskoi patologii. [Electroencephalogram of children with syndrmal forms of psychic pathology]. In Yu. S. Shevchenko (ed.) Detskaya i podrostkovaya psikhiatriya: Klinicheskie lektsii dlya professionalov [Juvenile and adolescent psychiatry: Clinical lectures for professionals]. M.: Publ. MIA Ltd., 2011. Pp. 659—671.
  2. Tyushkevich S.A. Osobennosti povedeniya i kognitivnykh narushenii u detei i podrostkov s sindromom umstvennoi otstalosti, stseplennoi s lomkoi khromosomoi X: Avtoref. diss. na stepen’ kand. psikhol. nauk [Specialties of behavior and cognitive disorders in children with intellectual deficit syndrome comorbid with fragile X chromosome. Thesis of dissertation for the degree of candidate of psychological sciences]. M., 2010. 27 p.
  3. Clifford S., Dissanayake C., Bui Q.M at al. (2007) Autism spectrum phenotype in males and females with fragile X full mutation and permutation. J Autism Dev Disord. 37(4):738-747.
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