Language Development and Fragile X Syndrome

2011 ◽  
Vol 18 (3) ◽  
pp. 87-97 ◽  
Author(s):  
Leonard Abbeduto ◽  
Audra Sterling
Keyword(s):  
Intellectual Disability ◽  
Clinical Practice ◽  
Language Acquisition ◽  
Language Development ◽  
Learning Environment ◽  
Language Learning ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Behavioral Profile ◽  
Research Findings

Fragile X syndrome (FXS) is the leading inherited cause of intellectual disability, with a behavioral profile of relative cognitive strengths and weaknesses, as well as a heightened probability of various forms of psychopathology. In this article, the authors review the language strengths and areas of challenge in children with FXS, as well as consider the contributions of the language learning environment to language acquisition. This article concludes with considerations of research findings to clinical practice.

scholarly journals A Pilot Quantitative Evaluation of Early Life Language Development in Fragile X Syndrome

2019 ◽  
Vol 9 (2) ◽  
pp. 27 ◽  
Author(s):  
Debra Reisinger ◽  
Rebecca Shaffer ◽  
Ernest Pedapati ◽  
Kelli Dominick ◽  
Craig Erickson
Keyword(s):  
Language Development ◽  
Language Learning ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Language Skills ◽  
Infants And Toddlers ◽  
Early Language ◽  
Early Language Development ◽  
Automated Vocal Analysis ◽  
Analysis System

Language delay and communication deficits are a core characteristic of the fragile X syndrome (FXS) phenotype. To date, the literature examining early language development in FXS is limited potentially due to barriers in language assessment in very young children. The present study is one of the first to examine early language development through vocal production and the language learning environment in infants and toddlers with FXS utilizing an automated vocal analysis system. Child vocalizations, conversational turns, and adult word counts in the home environment were collected and analyzed in a group of nine infants and toddlers with FXS and compared to a typically developing (TD) normative sample. Results suggest infants and toddlers with FXS are exhibiting deficits in their early language skills when compared to their chronological expectations. Despite this, when accounting for overall developmental level, their early language skills appear to be on track. Additionally, FXS caregivers utilize less vocalizations around infants and toddlers with FXS; however, additional research is needed to understand the true gap between FXS caregivers and TD caregivers. These findings provide preliminary information about the early language learning environment and support for the feasibility of utilizing an automated vocal analysis system within the FXS population that could ease data collection and further our understanding of the emergence of language development.

What we have to explain in foreign language learning

1996 ◽  
Vol 19 (4) ◽  
pp. 718-718 ◽  
Author(s):  
Robert Bley-Vroman
Keyword(s):  
Second Language Acquisition ◽  
Language Acquisition ◽  
Language Development ◽  
Foreign Language ◽  
Language Learning ◽  
Learning Theory ◽  
Foreign Language Learning ◽  
Fundamental Difference ◽  
Human Cognition ◽  
Development Theory

AbstractWhile child language development theory must explain invariant “success,” foreign language learning theory must explain variation and lack of success. The fundamental difference hypothesis (FDH) outlines such a theory. Epstein et al. ignore the explanatory burden, mischaracterize the FDH, and underestimate the resources of human cognition. The field of second language acquisition is not divided into camps by views on “access” to UG.

scholarly journals Blood spots screening for identification of Fragile X Syndrome among intellectual disability students in Flores Island, INDONESIA

2013 ◽  
Vol 2013 (S1) ◽  
Author(s):  
Agustini Utari ◽  
Joyce Lo ◽  
Tzuhan Tong ◽  
Tri Indah Winarni ◽  
Sultana MH Faradz ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Blood Spots

Responsive Parenting as a Target for Telehealth Language Interventions in Fragile X Syndrome: Implications for Scalability and Best Practices

2021 ◽  
Vol 42 (04) ◽  
pp. 287-300
Author(s):  
Lauren Bullard ◽  
Leonard Abbeduto
Keyword(s):  
Best Practices ◽  
Language Development ◽  
Fragile X Syndrome ◽  
Child Language ◽  
Fragile X ◽  
Future Research ◽  
Dyadic Relationship ◽  
Video Teleconferencing ◽  
Treatment Gains ◽  
Speech And Language Development

AbstractThis review highlights the ways in which telehealth procedures can be implemented to help bridge the research-to-practice gap in supporting developmental outcomes for youth with fragile X syndrome (FXS). We review how the literature to date has informed potential treatment targets in the areas of speech and language development with a focus on understanding and supporting the dyadic relationship between the child and their biological mother, who is also impacted biologically. Notably, parental responsivity is an area that is strongly related to child language outcomes, both early and into adolescence, and thus, it is an important treatment target for subsequent interventions. To date, several parent-implemented interventions have been done in FXS across a broad age range (2–17-year-olds) all showing support not only that parents are successful in learning responsive strategies but also that there are subsequent impacts to child language development. Moreover, these interventions were successfully implemented at a distance through telehealth procedures including video teleconferencing and shared recordings of parent–child interactions. This review also addresses potential moderators of treatment gains. Implications for scaling such interventions in the future as well as best practices for incorporating telehealth procedures into future research and intervention programs are also 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.

Fragile X: A Family of Disorders

2010 ◽  
Author(s):  
Ann M. Mastergeorge ◽  
Jacky Au
Keyword(s):  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
X Chromosome ◽  
Culture Media ◽  
Fragile Site ◽  
Fragile X ◽  
Single Gene ◽  
Repeat Sequence ◽  
Full Mutation ◽  
Tissue Culture Media

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability known, and it is the most common single gene disorder associated with autism (Belmonte and Bourgeron 2006; Reddy 2005). It is caused by the lack or deficiency of the FMR1 protein, FMRP (Loesch et al. 2004b). The typical physical features of FXS include prominent ears, hyperextensible finger joints, flat feet, soft skin, and in adolescence and adulthood large testicles (macroorchidism) and a long face (Hagerman 2002b). The behavioral features include poor eye contact, hyperarousal to stimuli, anxiety, hyperactivity, attention deficit, impulsivity, hand stereotypies (such as hand biting and hand flapping), and social deficits including autism and autism spectrum disorder (ASD) (Budimirovic et al. 2006; Clifford et al. 2007; Hall et al. 2008b; Hatton et al. 2006b; Sullivan et al. 2007b). Fragile-X syndrome was first reported by Lubs (1969) in two brothers who had intellectual disability and the appearance of a marker X chromosome, which is a fragile site on their X chromosome. It was later detected that this fragile site on the X chromosome only occurred when the chromosomes were studied in a folate-deficient tissue culture media (Sutherland 1977). Therefore cytogenetic studies were utilized to document cases of FXS throughout the 1980s until the Fragile X Mental Retardation 1 gene (FMR1) was discovered in 1991 (Verkerk et al. 1991). The FMR1 gene was found to have a trinucleotide (CGG) repeat sequence at the 5’ untranslated region, with the normal range later determined to be up to 44 repeats, a gray zone of 45–54 repeats, a premutation of 55–200 repeats, and a full mutation range of more than 200 repeats (Maddalena et al. 2001). Those individuals with the full mutation have a deficit or absence of the FMR1 protein (FMRP) that causes the physical, behavioral, and cognitive features of FXS (Loesch et al. 2004b). Females with the full mutation have another X chromosome that is producing FMRP, depending on the activation ratio (AR) or the percentage of cells that have the normal X chromosome as the active X chromosome.

scholarly journals Towards Mechanism-Based Treatments for Fragile X Syndrome

2019 ◽  
Vol 9 (8) ◽  
pp. 202
Author(s):  
Daman Kumari ◽  
Inbal Gazy
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Spectrum ◽  
Spectrum Disorder

Fragile X syndrome (FXS) is the most common heritable form of intellectual disability, as well as the most common known monogenic cause of autism spectrum disorder (ASD), affecting 1 in 4000–8000 people worldwide [...]

Language Learning

2012 ◽  
Author(s):  
Amy Paugh
Keyword(s):  
Language Acquisition ◽  
Language Development ◽  
Language Learning ◽  
Human Development ◽  
Cognitive Processes ◽  
Cultural Context ◽  
First Language ◽  
The Body ◽  
First Language Acquisition ◽  
Wide Range

The study of language learning is central to understanding how children learn to communicate and become competent members of their communities and social worlds. It is basic to the study of what it means to be human. As such, the body of research on this topic spans multiple disciplines including linguistics, psychology, anthropology, sociology, human development, education, applied linguistics, speech-language pathology, and neuroscience. It entails studies of the acquisition of first and second (third, etc.) languages in monolingual and bi/multilingual contexts, and both typical and atypical language development. Theories and methods used to study this phenomenon vary across academic disciplines. Linguistic and psychological approaches to first-language acquisition have focused more heavily on cognitive processes and development, while research from anthropological and sociolinguistic perspectives tends to examine learning language in its social and cultural context. These differing orientations are reflected in the terms used to refer to the process, for example, language acquisition or language development in linguistic and psychological approaches and language socialization in anthropological approaches. Much research on first-language acquisition has been carried out on English-speaking North American and European populations, but recent years have witnessed increasing analysis of cross-linguistic and cross-cultural data. Studies range in focus, examining theoretical claims or the acquisition of particular linguistic features such as phonology, morphology, syntax, semantics, pragmatics, and discourse. Researchers investigate the influences on language learning and seek to illuminate the relations of language to human development, cognitive processes, and/or culture. Normally developing children worldwide evidence a high degree of similarity in early language learning; thus it has been possible to summarize general developmental sequences. One of the most fundamental points of rigorous debate concerns the degree of influence played by innate genetic predispositions or mechanisms of language (“nature”) versus the role of the social environment and language(s) children are exposed to (“nurture”). Spurred by this and other debates, the field has exploded since the 1960s. The literature is extensive and multidisciplinary, with each area often very specialized. This bibliography covers a wide range of perspectives, including research that falls on all points of the nature-nurture continuum, but focuses primarily on early childhood and confines itself to reviews, primary case studies, and foundational publications on child language learning in each tradition. The article was compiled with research assistance from Divya Ganesan at James Madison University.

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