scholarly journals Discriminating Down Syndrome and Fragile X Syndrome based on language ability

2012 ◽  
Vol 40 (1) ◽  
pp. 244-265 ◽  
Author(s):  
LIZBETH H. FINESTACK ◽  
AUDRA M. STERLING ◽  
LEONARD ABBEDUTO

ABSTRACTThis study compared the receptive and expressive language profiles of verbally expressive children and adolescents with Down Syndrome (DS) and those with Fragile X syndrome (FXS) and examined the extent to which these profiles reliably differentiate the diagnostic groups. A total of twenty-four verbal participants with DS (mean age: 12 years), twenty-two verbal participants with FXS (mean age: 12 years), and twenty-seven participants with typical development (TD; mean age = 4 years) completed standardized measures of receptive and expressive vocabulary and grammar, as well as a conversational language sample. Study results indicate that there are distinct DS and FXS language profiles, which are characterized by differences in grammatical ability. The diagnostic groups were not differentiated based on vocabulary performance. This study supports the existence of unique language profiles associated with DS and FXS.

Author(s):  
Jessica Klusek ◽  
Gary E. Martin ◽  
Molly Losh

Abstract This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 27 with typical development (TD), aged 4–15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did not differ from boys with ASD. Dampened vagal tone predicted pragmatic impairment in ASD, and associations emerged between cardiac activity and receptive/expressive vocabulary across groups. Findings support autonomic dysfunction as a mechanism underlying pragmatic impairment in ASD and suggest that biophysiological profiles are shared in ASD and FXS, which has implications for understanding the role of fragile X mental retardation-1 (FMR1, the FXS gene) in the pathophysiology of ASD.


2016 ◽  
Vol 30 (5) ◽  
pp. 970-974 ◽  
Author(s):  
Wilmar Saldarriaga ◽  
Fabian Andres Ruiz ◽  
Flora Tassone ◽  
Randi Hagerman

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Jacques Bellavance ◽  
Morin Diane ◽  
Catherine Mello

Purpose The behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults. Design/methodology/approach A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers. Findings Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome. Originality/value This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.


Sign in / Sign up

Export Citation Format

Share Document