scholarly journals Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome

2013 ◽  
Vol 48 (4) ◽  
pp. 432-443 ◽  
Author(s):  
Gary E. Martin ◽  
Molly Losh ◽  
Bruno Estigarribia ◽  
John Sideris ◽  
Joanne Roberts
Keyword(s):  
Down Syndrome ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Pragmatic Language ◽  
Expressive Vocabulary ◽  
Longitudinal Profiles

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
Keyword(s):  
Down Syndrome ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Typical Development ◽  
Expressive Vocabulary ◽  
Standardized Measures ◽  
Study Results ◽  
Conversational Language ◽  
Language Profiles ◽  
Language Sample

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.

scholarly journals Physiological Arousal in Autism and Fragile X Syndrome: Group Comparisons and Links With Pragmatic Language

2013 ◽  
Vol 118 (6) ◽  
pp. 475-495 ◽  
Author(s):  
Jessica Klusek ◽  
Gary E. Martin ◽  
Molly Losh
Keyword(s):  
Fragile X Syndrome ◽  
Language Impairment ◽  
Fragile X ◽  
Cardiac Activity ◽  
Vagal Tone ◽  
Autism Spectrum ◽  
Pragmatic Language ◽  
Typical Development ◽  
Expressive Vocabulary

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.

Down Syndrome and Fragile X Syndrome in a Colombian Woman: Case Report

2016 ◽  
Vol 30 (5) ◽  
pp. 970-974 ◽  
Author(s):  
Wilmar Saldarriaga ◽  
Fabian Andres Ruiz ◽  
Flora Tassone ◽  
Randi Hagerman
Keyword(s):  
Down Syndrome ◽  
Case Report ◽  
Fragile X Syndrome ◽  
Fragile X

scholarly journals A Multi-Method Investigation of Pragmatic Development in Individuals With Down Syndrome

2017 ◽  
Vol 122 (4) ◽  
pp. 289-309 ◽  
Author(s):  
Michelle Lee ◽  
Lauren Bush ◽  
Gary E. Martin ◽  
Jamie Barstein ◽  
Nell Maltman ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Executive Function ◽  
Theory Of Mind ◽  
Parent Report ◽  
Standardized Assessments ◽  
Pragmatic Competence ◽  
Pragmatic Language ◽  
Expressive Vocabulary ◽  
Pragmatic Development ◽  
Mental Age

Abstract This longitudinal study examined pragmatic language in boys and girls with Down syndrome (DS) at up to three time points, using parent report, standardized and direct assessments. We also explored relationships among theory of mind, executive function, nonverbal mental age, receptive and expressive vocabulary, grammatical complexity, and pragmatic competence. Controlling for cognitive and language abilities, children with DS demonstrated greater difficulty than younger typically developing controls on parent report and standardized assessments, but only girls with DS differed on direct assessments. Further, pragmatic skills of individuals with DS developed at a delayed rate relative to controls. Some sex-specific patterns of pragmatic impairments emerged. Theory of mind and executive function both correlated with pragmatic competence. Clinical and theoretical implications are discussed.

Validation of Hagerman’s behavioral phenotype for fragile X syndrome among men with intellectual disability

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Jacques Bellavance ◽  
Morin Diane ◽  
Catherine Mello
Keyword(s):  
Down Syndrome ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Design Methodology ◽  
Fragile X ◽  
Behavioral Phenotype ◽  
Care Providers ◽  
Content Type

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