scholarly journals Reading Profiles in Adolescents with Fragile X Syndrome and Down Syndrome

2017 ◽  
Vol 33 (3) ◽  
pp. 660
Author(s):  
Anibal Puente ◽  
Jesús M. Alvarado ◽  
Virginia Jiménez ◽  
Lourdes Martínez
Keyword(s):  
Down Syndrome ◽  
Fragile X Syndrome ◽  
Reading Skills ◽  
Fragile X ◽  
Reading Performance ◽  
Reading Level ◽  
Reading Tests ◽  
Verbal Skills ◽  
Mental Age ◽  
Basic Reading Skills

<p>Fragile X Syndrome (FXS) and Down Syndrome (DS) read better than expected for their mental age. We have measured three basic reading skills (word recognition, phonological awareness, and reading comprehension), and two standard intellectual and verbal measures: the McCarthy Scales of Children’s Abilities and Peabody Picture Vocabulary Tests. The tests were applied to 16 adolescents classified as FXS (<em>M</em> = 14.74 years old, <em>SD</em> = 4.03) and 16 adolescents classified as DS (<em>M</em> = 15.59 years old, <em>SD</em> = 2.35). For comparison purposes, the reading tests were also applied to a typical develop group of 70 children aged between 4.8 and 7.0 years (<em>M</em> = 6.11, <em>SD</em> = 0.71).  Children with DS and FXS exhibited verbal skills superior to their cognitive development, especially in the FXS group. In reading performance, FXS showed a reading level corresponding to 5/6 their age, and for SD 6/7 of the equivalent reading age, however, both groups exhibited a similar reading performance in the three reading skills measured, when nonverbal mental age was controlled.</p>

A Comparison of Phonological Skills of Boys With Fragile X Syndrome and Down Syndrome

2005 ◽  
Vol 48 (5) ◽  
pp. 980-995 ◽  
Author(s):  
Joanne Roberts ◽  
Steven H. Long ◽  
Cheryl Malkin ◽  
Elizabeth Barnes ◽  
Martie Skinner ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Speech Development ◽  
Developmental Differences ◽  
Typically Developing ◽  
Phonological Development ◽  
Phonological Processes ◽  
Mental Age ◽  
Whole Word

In this study, the authors compared the phonological accuracy and patterns of sound change of boys with fragile X syndrome, boys with Down syndrome, and typically developing mental-age-matched boys. Participants were 50 boys with fragile X syndrome, ages 3 to 14 years; 32 boys with Down syndrome, ages 4 to 13 years; and 33 typically developing boys, ages 2 to 6 years, who were matched for nonverbal mental age to both the boys with fragile X syndrome and the boys with Down syndrome. All participants were administered a standardized articulation test, and their sound accuracy, phonological process, and proportion of whole-word proximity scores were analyzed. Although boys with fragile X syndrome were delayed in their speech development, they did not differ from the typically developing, mental-age-matched boys in the percentage of correct early-, middle-, and late-developing consonants; phonological processes; or whole-word proximity scores. Furthermore, boys with fragile X syndrome had fewer errors on early-, middle-, and late-developing consonants; fewer syllable structure processes; and higher whole-word proximity scores than did boys with Down syndrome. Boys with Down syndrome also were delayed in their speech development, yet their phonological inventories, occurrences of phonological processes, and proportion of whole-word proximity scores indicated greater delays in their phonological development than the younger, typically developing boys. These results suggest that males with fragile X syndrome display phonological characteristics in isolated words similar to younger, typically developing children, whereas males with Down syndrome show greater delays as well as some developmental differences compared with both the males with fragile X syndrome and typically developing males.

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

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.

scholarly journals Vocabulary comprehension in adults with fragile X syndrome (FXS)

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Anne Hoffmann ◽  
Sue Ellen Krause ◽  
Joanne Wuu ◽  
Sue Leurgans ◽  
Stephen J. Guter ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Cognitive Skills ◽  
Fragile X ◽  
Language Skills ◽  
Receptive Vocabulary ◽  
Fourth Edition ◽  
Mental Age ◽  
Autism Symptomatology ◽  
Global Language ◽  
Verbal Cognition

Abstract Background Receptive and expressive vocabulary in adult and adolescent males with fragile X syndrome (FXS) have been shown as significantly lower than their chronological age; however, receptive vocabulary has been considered a strength relative to mental age. This has not been formally examined, however, and data are needed to compare receptive vocabulary with other language skills and with mental age in individuals with FXS. This is especially important as vocabulary measures are sometimes used as a proxy to estimate language ability. Methods This preliminary study examined receptive vocabulary, global language, and cognitive skills in 42 adults (33 males and 9 females) with FXS as a portion of the baseline evaluation prior to randomization in a clinical trial of ampakine CX516. The battery of standardized tests addressed receptive vocabulary with the Peabody Picture Vocabulary Test, Third Edition (PPVT-III), receptive and expressive language (termed henceforth as global language) via the Preschool Language Scale, Fourth Edition or the Clinical Evaluation of Language Fundamentals, Third Edition, and non-verbal cognition via the Stanford-Binet Intelligence Scales, Fourth Edition (SB-IV). Results Results showed (1) significantly higher receptive vocabulary than global language, (2) significantly better receptive vocabulary than non-verbal cognition, (3) equivalent non-verbal cognition and global language, and (4) severity of autism symptomatology was not correlated to receptive vocabulary or global language once non-verbal cognition was removed as factor. The scores from the PPVT-III did not represent the global language skills in our sample of adults with FXS. Conclusions Findings from this investigation strongly suggest that the PPVT-III should not be used as a screening tool for language levels or cognitive function in clinical studies since the scores from the PPVT-III were not representative of global language or non-verbal cognitive skills in adults with intellectual disabilities. This finding is critical in order to understand how to evaluate, as well as to treat, language in individuals with FXS. Development of efficient and appropriate tools to measure language, cognition, and behavior in individuals with FXS is essential.

Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1

2021 ◽  
Vol 1751 ◽  
pp. 147205
Author(s):  
Valérie Côté ◽  
Ève Lalancette ◽  
Inga S. Knoth ◽  
Lucie Côté ◽  
Kristian Agbogba ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Tuberous Sclerosis ◽  
Fragile X Syndrome ◽  
Tuberous Sclerosis Complex ◽  
Fragile X ◽  
Repetition Suppression
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