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Autism and Developmental Disorders
2017. Vol. 15, no. 4, 42–46
doi:10.17759/autdd.2017150406
ISSN: 1994-1617 / 2413-4317 (online)

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

954

D.S. Pereverzeva, S.A. Tyushkevich, U.A. Mamokhina, K.K. Danilina

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Abstract

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.

General Information

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

Journal rubric: Research & Diagnosis of ASD

Article type: scientific article

DOI: https://doi.org/10.17759/autdd.2017150406

For citation: Pereverzeva, D.S., Tyushkevich, S.A., Mamokhina, U.A., Danilina, K.K. (2017). A complex approach in the diagnostics of children with ASD. FMR1 gene mutation clinical case . Autism and Developmental Disorders, 15(4), 42–46. (In Russ.). https://doi.org/10.17759/autdd.2017150406

References

  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.

Information About the Authors

Darya S. Pereverzeva, Candidate of Science (Psychology), Senior Researcher of the Federal Resource Center for Organization of Comprehensive Support to Children with Autism Spectrum Disorders, Moscow State University of Psychology and Education, Moscow, Russian Federation, ORCID: https://orcid.org/0000-0002-6881-3337, e-mail: dasha.pereverzeva@gmail.com

Svetlana A. Tyushkevich, Candidate of Science (Psychology), Senior Researcher of the scientific laboratory of the Federal Resource Center for Organization of Comprehensive Support to Children with ASD, Moscow State University of Psychology & Education, Moscow, Russian Federation, ORCID: https://orcid.org/0000-0002-9029-2830, e-mail: tyushkevichsv@yandex.ru

Ulyana A. Mamokhina, Head of the Laboratory of Comprehensive Language Research in Children with Autism & Developmental Disorders, Moscow State University of Psychology & Education, Moscow, Russian Federation, ORCID: https://orcid.org/0000-0003-2738-7201, e-mail: mamohinaua@mgppu.ru

Kamilla K. Danilina, Researcher, Research and Clinical Center of Pediatric psychoneurology of Moscow Department of Public Health, Junior Researcher, Scientific laboratory, Federal Resource Center for Organization of Comprehensive Support to Childrenwith ASD, Moscow State University of Psychology & Education, Moscow, Russian Federation, ORCID: https://orcid.org/0000-0002-0396-2884, e-mail: d-kk@mail.ru

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