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



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


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.)


  1. Danilina K.K. Sotsial'no-psikhologicheskie osobennosti detei i podrostkov s sindromom umstvennoi otstalosti, stseplennoi s lomkoi khromosomoi Kh [Socio-Psychological Peculiarities of Children and Adolescents with Mental Retardation Syndrome Linked to Fragile X-Chromosome]. Defektologiya=Defectology. 2016, no. 5, pp. 10–20
  2. Ovchinnikova I.V., Zhukova M.A., Grigorenko E.L. Aprobaciya metodiki Vineland Adaptive Behavior Scales (VABS) na russkoyazychnoj vyborke [Experimental testing of the technique Vineland Adaptive Behavior Scales (VABS) on a Russian language sample]. Voprosi psychologii=Questions of Psychology, 2018, no. 6, pp. 134–145.
  3. Tyushkevich S.A., Pereverzeva D.S., Mamokhina U.A., et al. Kompleksnoe soprovozhdeniye semei, vospityvayushchikh detei s sindromal'nymi formami RAS. Sindrom umstvennoi otstalosti, stseplennoi s lomkoi khromosomoi Kh [Integrated support for families with children with ASD syndromal forms. Fragile X syndrome]. Moscow: MSUPE, 2018. 121 p.
  4. Bassell G.J., Warren S.T. Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron, 2008, vol. 60, no. 2, pp. 201–214. DOI: 10.1016/j.neuron.2008.10.004.
  5. Berument S.K., Rutter M., Lord C., et al. Autism screening questionnaire: diagnostic validity. British Journal of Psychiatry, 1999, vol. 175, no 5, pp. 444–451. DOI: 10.1192/bjp.175.5.444.
  6. Dykens E., Ort S., Cohen I., et al. Trajectories and profiles of adaptive behavior in males with fragile X syndrome: multicenter studies. Journal of Autism and Developmental Disorders, 1996, vol. 26, no. 3, pp. 287–301. DOI: 10.1007/bf02172475.
  7. Fisch G.S., Simensen R.J., Schroer R.J. Longitudinal changes in cognitive and adaptive behavior scores in children and adolescents with the fragile X mutation or autism. The Journal of Autism and Developmental Disorders, 2002, vol. 32, no. 2, pp. 107–114. DOI: 10.1023/a:1014888505185.
  8. Garber K.B., Visootsak J., Warren S.T. Fragile X syndrome. European Journal of Human Genetics, 2008, vol. 16, no. 6, pp. 666–672. DOI: 10.1038/ejhg.2008.61.
  9. Hagerman R.J., Berry-Kravis E., Hazlett H., et al. Fragile X syndrome. Nature reviews Disease Primers, 2017, vol. 3, no. 17065, pp. 1–19.  DOI: 10.1038/nrdp.2017.65.
  10. Hagerman R.J. Lessons from Fragile X regarding neurobiology, autism, and neurodegeneration. Developmental and Behavioral Pediatrics, 2006, vol. 27, no. 1, pp. 63–74. DOI: 10.1097/00004703-200602000-00012.
  11. Hagerman R.J. The physical and behavioral phenotype. In R. Hagerman,
    P. Hagerman (eds.), Fragile X syndrome: Diagnosis, treatment, and research. Baltimore, MD: The Johns Hopkins University Press, 2002, pp. 103–109.
  12. Harris J.C. Brain and behavior in fragile X syndrome and idiopathic autism. Archives of General Psychiatry, 2011, vol. 68, no. 3, pp. 230–231. DOI: 10.1001/archgenpsychiatry. 2011.11.
  13. Harris S.W., Goodlin-Jones B., Nowicki S., et al. Autism profiles of males with fragile X syndrome. American Journal of Mental Retardation, 2008, vol. 113, no. 6, pp. 427–438. DOI: 10.1352/2008.113:427-438
  14. Hartley S.L., Wheeler A.C., Mailick M.R., et al. Autism symptoms across adulthood in Men with fragile X syndrome: a cross-sectional analysis. Journal of Autism and Developmental Disorders, 2015, vol. 45, no. 11, pp. 3668–3679. DOI: 10.1007/s10803-015-2513-7.
  15. Hernandez R.N., Feinberg R.L., Vaurio R., et al. Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation. American Journal of Medical Genetics - Part A, 2009, vol. 149A, no. 6, pp. 1125–1137. DOI: 10.1002/ajmg.a.32848.
  16. Hodapp R.M., Leckman J.F., Dykens E.M., et al. K-ABC profiles in children with fragile X syndrome, Down syndrome, and nonspecific mental retardation. American Journal of Mental Retardation, 1992, vol. 97, no. 1, pp. 39–46.
  17. Hogan A.L., Caravella K.E., Ezell J., et al. Autism Spectrum Disorder Symptoms in Infants with Fragile X Syndrome: A Prospective CaseSeries. Journal of Autism and Developmental Disorders, 2017, vol. 47, no. 6, pp. 1628–1644. DOI: 10.1007/s10803-017-3081-9.
  18. Kaufmann W.E., Cortell R., Kau A.S., et al. Autism spectrum disorder in fragile X syndrome: communication, social interaction and specific behaviors. American Journal of Medical Genetics - Part A, 2004, vol. 129A, no. 3, pp. 225–234. DOI: 10.1002/ajmg.a.30229
  19. Kidd S.A., Lachiewicz A., Barbouth D., et al. Fragile X syndrome: a review of associated medical problems. Pediatrics, 2014, vol. 134, no. 5, pp. 995–1005. DOI: 10.1542/peds.2013-4301.
  20. Lachiewicz A.M., Dawson D.V., Spiridigliozzi G.A. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. American Journal of Medical Genetics, 2000, vol. 92, no. 4, pp. 229–236. DOI: 10.1002/(sici)1096-8628(20000605)92:4<229::aid-ajmg1>;2-k
  21. Lee M., Martin G.E., Berry-Kravis E., et al. A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. Journal of Neurodevelopmental Disorders, 2016, vol. 8, no 1, pp. 47–57. DOI: 10.1186/s11689-016-9179-0.
  22. Lord C., Rutter M., Goode S., et al. Autism diagnostic observation schedule:
    a standardized observation of communicative and social behavior. Journal of Autism and Developmental Disorders, 1989, vol. 19, no. 2, pp. 185–212. DOI: 10.1007/bf02211841
  23. Musumeci S.A., Hagerman R.J., Ferri R., et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia, 1999, vol. 40, no. 8, pp. 1092–9. DOI: 10.1111/j.1528-1157.1999.tb00824.x
  24. Raspa M., Bailey D.B., Bann C., et al. Modeling family adaptation to fragile X syndrome. American Journal on Intellectual and Developmental Disabilities, 2014, vol. 119, pp. 33–48. DOI: 10.1352/1944-7558-119.1.33.
  25. Rogers S.J., Wehner D.E., Hagerman R. The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. Journal of Developmental & Behavioral Pediatrics, 2001,
    vol. 22, no. 6, pp. 409–417. DOI: 10.1097/00004703-200112000-00008.
  26. Saldarriaga W., Tassone F., González-Teshima L.Y., et al. Fragile X syndrome. Colombia médica, 2014, vol. 45, no. 4, pp. 190–198.
  27. Schopler E., Van Bourgondien M.E., Wellman J., et al. Childhood autism rating scale-second edition (CARS2): manual. Los Angeles: Western Psychological Services. 2010. 410 p.
  28. Scott S.H. Treatments for Fragile X Syndrome: A Closer Look at the Data. Developmental Disabilities Research Reviews, 2009, vol. 15, no. 4, pp. 353–360. DOI: 10.1002/ddrr.78.
  29. Sparrow S.S., Cicchetti D.V. Diagnostic uses of the Vineland Adaptive Behavior Scales. Journal of Pediatric Psychology, 1985, vol. 10, no. 2, pp. 215–225. DOI: 10.1093/jpepsy/10.2.215.
  30. Talisa V.B., Boyle L., Crafa D., et al. Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey. American Journal of Medical Genetics - Part A, 2014, vol. 164A, no. 5, pp. 1198–1203. DOI: 10.1002/ajmg.a.36468.
  31. Telias M. Fragile X Syndrome Pre-Clinical Research: Comparing Mouse- and Human-Based Models. Methods in Molecular Biology, 2019, vol. 1942, pp. 155–162. DOI: 10.1007/978-1-4939-9080-1_13.
  32. Verkerk A.J., Pieretti M., Sutcliffe J.S., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell, 1991, vol. 65, no. 5, pp. 905–914. DOI: 10.1016/0092-8674(91)90397-h.
  33. Wiegers A.M., Curfs L.M., Vermeer E.L., et al. Adaptive behavior in the fragile X syndrome: profile and development. American Journal of Medical Genetics, 1993, vol. 47, no. 2, pp. 216–220. DOI: 10.1002/ajmg.1320470215.

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:, e-mail:

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:, e-mail:



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