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Background/objectives: This study examined the development of speech, expressive vocabulary, and receptive vocabulary in boys with Fragile X Syndrome (FXS), with a focus on the contribution of the Fragile X Messenger Ribonucleoprotein (FMRP), while controlling for the effects of nonverbal IQ, maternal education, and Autism status on the development of these skills.
Methods: Participants included 45 boys with full mutation FXS, ranging in age from 2.9 to 14.0 years, who were subdivided into those with FXS only (FXS-Only) and those with FXS and Autism (FXS-Autism). Speech, expressive vocabulary, and receptive vocabulary skills were assessed over three years for each participant.
Results: There was a significant relationship between each of the outcome measures and the child's nonverbal mental level, and between for both outcome measures of vocabulary and Autism status, but these relationships were moderated by the level of FMRP. Specifically, higher levels of FMRP seemed to increase the relationship between developmental level of speech, receptive, and expressive vocabulary for boys with FXS with and without Autism; however, at lower levels of FMRP, these relationships seemed to weaken significantly for both groups.
Conclusions: These findings implicate increased complexity in the relationship between various contributors to the rates of growth of speech, expressive vocabulary, and receptive vocabulary in boys with FXS, with FMRP being a key variable potentially moderating the relationship between nonverbal abilities, Autism status, and speech and vocabulary development.
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http://dx.doi.org/10.3390/children12020245 | DOI Listing |
J Cogn Dev
March 2025
Department of Communicative Sciences and Disorders, New York University, 665 Broadway, New York, New York 10012.
This research paper explores the role of speaker, listener and real-time social attention for pronoun comprehension in autistic and nonautistic children in northeast United States. We assessed the pronoun comprehension of 22 autistic children (average age of 62 months, range 46-80 months) and 22 nonautistic children (average age 44 months, range 30-57 months) matched on expressive vocabulary scores. We evaluated first- and second-person possessive pronoun comprehension ("my" and "your") using a game in which two experimenters hid stickers and provided clues to their location by providing a verbal clue (e.
View Article and Find Full Text PDFDev Med Child Neurol
September 2025
Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK.
Aim: To investigate parent-reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease-modifying therapies.
Method: This was a cross-sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (Italy), testing the use of the MacArthur-Bates Communicative Development Inventories (MB-CDIs, 8 months+) to explore vocabulary production, and the Social Communication Questionnaire (SCQ, 4 years+) to investigate social communication.
Results: Fifteen participants completed the MB-CDIs (age range 2 years 2 months-6 years 9 months).
Stud Health Technol Inform
September 2025
Institute for Biomedical Informatics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
Introduction: Mapping local medical data assets to international data standards such as medical ontology SNOMED CT fosters data harmonization and, thereby, global progress in medical research. Since its intense resource requirements often hinder manual SNOMED CT mapping, automated mapping tools such as MedCAT have been developed. We investigated how the formulation of study variable names (VNs) influences the efficacy and accuracy of the SNOMED CT concepts identified by MedCAT.
View Article and Find Full Text PDFInt J Speech Lang Pathol
August 2025
MARCS Institute for Brain, Behaviour and Development, Western Sydney University, Penrith, NSW, Australia.
Purpose: This study compared performance of multilingual and monolingual children on the OZI-Short Form (a parent-report checklist for early communication from 12-30 months) with reference to receptive and expressive vocabulary, gestures, and communicative games/routines. Scores for three semantic subcategories (animals, clothing, food and drink) were compared between cohorts to assess for any evidence of cultural bias.
Method: Parents of children ( = 552) aged 10.
Infant Behav Dev
August 2025
Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Language acquisition is a fundamental aspect of infancy and early childhood development. This paper describes the development and validation of the language measures within the NIH Baby Toolbox® (Baby Toolbox), a state-of-the-art assessment system designed for children aged 16 days to 42 months. The Baby Toolbox language domain includes six measures that assess both expressive and receptive language-Looking while Listening, Picture Vocabulary, CDI-CAT Comprehension, CDI-CAT Production, Mullen Receptive, and Mullen Expressive.
View Article and Find Full Text PDF