Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal - PubMed (original) (raw)
. 2006 Sep 1;140A(17):1814-26.
doi: 10.1002/ajmg.a.31405.
Affiliations
- PMID: 16906564
- DOI: 10.1002/ajmg.a.31405
Autism spectrum disorder in Fragile X syndrome: differential contribution of adaptive socialization and social withdrawal
Dejan B Budimirovic et al. Am J Med Genet A. 2006.
Abstract
The present study extends our previous work on characterizing the profile of social behavior abnormalities in boys with Fragile X (FraX) and autism spectrum disorder (ASD) using clinically oriented behavioral rating scales and standardized instruments. The goal was to further distinguish behavioral parameters contributing to the diagnostic classification of FraX + ASD. The study design included two cohorts of boys with FraX (3-8 years), a larger main cohort for cross-sectional analyses (n = 56, 24 with ASD), and a longitudinal subset (n = 30, 11 with ASD) of the main cohort with up to 3 yearly observations. The focus was on the relative contribution of delayed adaptive socialization and social withdrawal, including item components of their corresponding rating instruments, to the diagnosis of ASD in boys with FraX. Using a combination of regression analyses, we demonstrated that: (1) as delayed socialization, social withdrawal is also a correlate of FraX + ASD; (2) items of social withdrawal scales representing avoidance were the main predictors of ASD status, particularly in older boys; (3) adaptive socialization skills reflecting rules of social behavior and recognition and labeling of emotions, linked to verbal reasoning abilities, were selectively associated with FraX + ASD; (4) adaptive socialization is the primary determinant over time of ASD status in boys with FraX; and (5) integrated adaptive socialization-social withdrawal models allow the identification of distinctive FraX + ASD subgroups. Altogether, our findings suggest that two distinct but interrelated social behavior abnormalities, one linked to impaired cognitive processes (delayed socialization) and the second one to disturbance in limbic circuits (avoidance), play a role in the development of ASD in boys with FraX.
Similar articles
- Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.
Kaufmann WE, Cortell R, Kau AS, Bukelis I, Tierney E, Gray RM, Cox C, Capone GT, Stanard P. Kaufmann WE, et al. Am J Med Genet A. 2004 Sep 1;129A(3):225-34. doi: 10.1002/ajmg.a.30229. Am J Med Genet A. 2004. PMID: 15326621 - Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation.
Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE. Hernandez RN, et al. Am J Med Genet A. 2009 Jun;149A(6):1125-37. doi: 10.1002/ajmg.a.32848. Am J Med Genet A. 2009. PMID: 19441123 Free PMC article. - Social behavior profile in young males with fragile X syndrome: characteristics and specificity.
Kau AS, Tierney E, Bukelis I, Stump MH, Kates WR, Trescher WH, Kaufmann WE. Kau AS, et al. Am J Med Genet A. 2004 Apr 1;126A(1):9-17. doi: 10.1002/ajmg.a.20218. Am J Med Genet A. 2004. PMID: 15039968 - Clinical potential, safety, and tolerability of arbaclofen in the treatment of autism spectrum disorder.
Frye RE. Frye RE. Drug Healthc Patient Saf. 2014 May 10;6:69-76. doi: 10.2147/DHPS.S39595. eCollection 2014. Drug Healthc Patient Saf. 2014. PMID: 24872724 Free PMC article. Review. - Channelopathy pathogenesis in autism spectrum disorders.
Schmunk G, Gargus JJ. Schmunk G, et al. Front Genet. 2013 Nov 5;4:222. doi: 10.3389/fgene.2013.00222. Front Genet. 2013. PMID: 24204377 Free PMC article. Review.
Cited by
- Defective GABAergic neurotransmission and pharmacological rescue of neuronal hyperexcitability in the amygdala in a mouse model of fragile X syndrome.
Olmos-Serrano JL, Paluszkiewicz SM, Martin BS, Kaufmann WE, Corbin JG, Huntsman MM. Olmos-Serrano JL, et al. J Neurosci. 2010 Jul 21;30(29):9929-38. doi: 10.1523/JNEUROSCI.1714-10.2010. J Neurosci. 2010. PMID: 20660275 Free PMC article. - Parental Reports on Early Autism Behaviors in Their Children with Fragile X Syndrome as a Function of Infant Feeding.
Westmark CJ. Westmark CJ. Nutrients. 2021 Aug 22;13(8):2888. doi: 10.3390/nu13082888. Nutrients. 2021. PMID: 34445048 Free PMC article. - Diagnosis of autism in a rare case of tyrosine hydroxylase deficiency: a case report.
Reyes ZMD, Lynch E, Henry J, De Simone LM, Sobotka SA. Reyes ZMD, et al. BMC Med Genomics. 2023 Apr 11;16(1):78. doi: 10.1186/s12920-023-01510-1. BMC Med Genomics. 2023. PMID: 37041529 Free PMC article. - Noncomprehension Signaling in Males and Females With Fragile X Syndrome.
Thurman AJ, Kover ST, Ted Brown W, Harvey DJ, Abbeduto L. Thurman AJ, et al. J Speech Lang Hear Res. 2017 Jun 10;60(6):1606-1621. doi: 10.1044/2016_JSLHR-L-15-0358. J Speech Lang Hear Res. 2017. PMID: 28586922 Free PMC article. - Event-related potential alterations in fragile X syndrome.
Knoth IS, Lippé S. Knoth IS, et al. Front Hum Neurosci. 2012 Sep 24;6:264. doi: 10.3389/fnhum.2012.00264. eCollection 2012. Front Hum Neurosci. 2012. PMID: 23015788 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical