Adaptive Status, Autistic Symptoms and Cognitive Profile in Patients with Monogenic Form of Autism Spectrum Disorders – Fragile X Syndrome.

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Abstract

The article analyzes psychological data of a large group (55 males and 6 females) of subjects with monogenic form of hereditary cognitive impairment with autistic symptoms – Martin-Bell syndrome (FXS) at different age ranges (from 2 to 34 years old). As a result of the analysis, significant cognitive impairments were identified, which persisted throughout the studied age interval (IQ 50 ± 2.1 in males and 60 ± 5.6 in females). Autistic disorders were observed on average in 60% of subjects (less in females) and were most pronounced at 8-12 years. Use of Autism Diagnostic Observation Scale-2 (ADOS-2) allowed us to show that “Social Affect” scale makes the main contribution to overall score of autistic manifestations. Almost all subjects showed a significantly reduced level of adaptive skills. The lowest scores on “Communication”, “Socialization” and “Everyday life skills” scales were observed at the age of 8-12 years. With increase in age, subjects improved only on “Daily Life Skills” scale. It was also shown that a higher degree of adaptation and better nonverbal intelligence was observed in children with less severe autistic symptoms.

General Information

Keywords: mental retardation syndrome linked to fragile X chromosome; autism spectrum disorders; Martin-Bell Syndrome; fragile X syndrome; socialization; nonverbal intelligence, adaptive skills

Journal rubric: Empirical Research

Article type: scientific article

DOI: https://doi.org/10.17759/cpse.2020090204

Funding. this work was supported by RFBR grant № 19-013-00750

For citation: Danilina K.K., Gorbachevskaya N.L. Adaptive Status, Autistic Symptoms and Cognitive Profile in Patients with Monogenic Form of Autism Spectrum Disorders – Fragile X Syndrome. [Elektronnyi resurs]. Klinicheskaia i spetsial'naia psikhologiia = Clinical Psychology and Special Education, 2020. Vol. 9, no. 2, pp. 79–98. DOI: 10.17759/cpse.2020090204. (In Russ., аbstr. in Engl.)

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Information About the Authors

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, Russia, ORCID: https://orcid.org/0000-0002-0396-2884, e-mail: d-kk@mail.ru

Natalia L. Gorbachevskaya, Doctor of Biology, Professor, Moscow State University of Psychology and Education, Leading Researcher, Laboratory of Neurophysiology, Mental Health Research Centre, Moscow, Russia, ORCID: https://orcid.org/0000-0002-8558-9007, e-mail: gorbachevskayanl@mgppu.ru

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