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Autism and Developmental Disorders
2017. Vol. 15, no. 4, 42–46
https://doi.org/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

 
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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

OpenAlex citations: 1

OpenAlex trends: Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases

Information about the work in OpenAlex

Number of citations: 1

Topics

Autism Spectrum Disorder Research

This cluster of papers encompasses a wide range of research on Autism Spectrum Disorders, including genetics, neurodevelopmental aspects, social skills interventions, brain connectivity, epidemiology, executive functioning, early intervention, emotion recognition, and neuroanatomy.

Number of works: 157201  |  Total number of citations: 3110342

Topic detailsв OpenAlex

Genetics and Neurodevelopmental Disorders

This cluster of papers focuses on the molecular basis, genetic mutations, and neurological manifestations of Rett syndrome and related disorders such as Fragile X syndrome. It explores the role of MeCP2, synaptic function, autism-like behaviors, and altered brain development in these conditions.

Number of works: 55783  |  Total number of citations: 1202604

Topic detailsв OpenAlex

Genomics and Rare Diseases

This cluster of papers focuses on the standards, guidelines, and tools for interpreting genetic variants, particularly in the context of clinical genomics and Mendelian disorders. It includes topics such as pathogenicity prediction, functional annotations, sequence interpretation, and the use of exome sequencing for identifying disease-causing variants.

Number of works: 65922  |  Total number of citations: 822666

Topic detailsв OpenAlex

Work details in OpenAlex

Article type: scientific article

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

Published

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

© Pereverzeva D.S., Tyushkevich S.A., Mamokhina U.A., Danilina K.K., 2017

License: CC BY-NC 4.0

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: pereverzevads@mgppu.ru

Svetlana A. Tyushkevich, Candidate of Science (Psychology), Senior Researcher of the scientific laboratory of the Federal Resource Center for Organization of Comprehe, Associate Professor of the Department of Differential Psychology and Psychophysiology of the Faculty of Clinical and Special Psychologynsive Support to Children with ASD, Moscow State University of psychology and education, Deputy Director of the Center for Advanced Research Development, National Research University Higher School of Economics, Moscow, Russian Federation, ORCID: https://orcid.org/0000-0002-9029-2830, e-mail: tyushkevichsv@yandex.ru

Ulyana A. Mamokhina, 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/0000-0003-2738-7201, 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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