Fragile X syndrome (FXS) is the most common inherited cause of mental retardation (MR), and unintelligible speech is a very common characteristic of young males with FXS. The proposed competing continuation study will compare segmental and prosody/voice features and speech intelligibility and identify potential mechanisms underlying individual differences in speech intelligibility of boys with FXS, Down syndrome (DS), and typical development (TD) to determine whether individual differences in speech production relate to FXS specifically or to MR in general.
The specific aims of this study are to: a) identify syndrome-specific differences in speech characteristics (segmental, prosody/voice, and intelligibility) in FXS or DS;b) determine how segmental and prosody/voice features relate to lower levels of speech intelligibility in boys with FXS and test whether the predictors of intelligibility differ among boys with FXS, DS, and TD;and c) identify potential mechanisms (anxiety/arousal, motor speech, nonverbal cognition, attention) that may account for anticipated group differences in speech intelligibility among boys with FXS and DS. Sixty-five boys with FXS, 40 boys with DS, and 80 TD boys (30 with similar mental age [TD-MA] and 50 with similar chronological age [TD-CA]) will participate in the study. The boys with FXS, DS, and the TD-CA boys will be between 8 and 12 years of age and the TD-MA boys will be between 4 and 6 years of age. All groups except the TD-CA will have nonverbal MAs between 4 and 6 years. Speech production in single words, imitated sentences, and conversational speech will be examined for temporal (contrast duration, VOT) and spectral (vowel space, F2 interquartile range) segmental features, prosody/voice features (actual rate, fundamental frequency [F0 ] levels and variability, final intonation contour), and speech intelligibility (perceived intelligibility, words intelligible). Direct magnitude estimatIion (DME) studies will be used to examine perceived intelligibility. We will examine the motor speech (oral motor function), cognition (nonverbal cognition, attention), and adaptive behavior (anxiety/arousal) of boys with FXS, DS, and TD-MA annually for three consecutive years. TD-CA boys will be assessed twice (every other year). Fragile X Mental Retardation Protein (FMRP) analysis will also be done on blood samples from the boys with FXS. Growth curve methods will contrast patterns of change over time in the overall level and rate of growth in speech development for the three groups of boys to identify syndrome- specific differences in speech characteristics, determine predictors of intelligibility and ascertain if they are syndrome-specific, and test hypothesized mediators of group differences in speech intelligibility. The ability to be understood is critical for effective communication, and poor speech intelligibility compromises all aspects of communicative competence in daily interactions. Determining whether there is a specific speech phenotype for FXS that is syndrome-specific or characteristic of MR as well as determining the potential mechanisms underlying speech intelligibility difficulties has significant implications for determining treatment protocols. Project Narrative The ability to be understood is critical for effective communication and poor speech intelligibility compromises all aspects of communicative competence in daily interactions. Fragile X syndrome (FXS) is the most common inherited cause of mental retardation, and unintelligible speech is a very common characteristic of boys with FXS. Determining whether there is a specific speech profile for FXS that is syndrome specific or characteristic of mental retardation, as well as determining the potential mechanisms underlying speech intelligibility difficulties, has highly significant implications for determining treatment protocols.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD044935-10
Application #
8301479
Study Section
Motor Function, Speech and Rehabilitation Study Section (MFSR)
Program Officer
Urv, Tiina K
Project Start
2003-07-07
Project End
2014-06-30
Budget Start
2012-07-01
Budget End
2014-06-30
Support Year
10
Fiscal Year
2012
Total Cost
$313,474
Indirect Cost
$101,667
Name
University of North Carolina Chapel Hill
Department
None
Type
Organized Research Units
DUNS #
608195277
City
Chapel Hill
State
NC
Country
United States
Zip Code
27599
Klusek, Jessica; Martin, Gary E; Losh, Molly (2014) A comparison of pragmatic language in boys with autism and fragile X syndrome. J Speech Lang Hear Res 57:1692-707
Martin, Gary E; Losh, Molly; Estigarribia, Bruno et al. (2013) Longitudinal profiles of expressive vocabulary, syntax and pragmatic language in boys with fragile X syndrome or Down syndrome. Int J Lang Commun Disord 48:432-43
Estigarribia, Bruno; Martin, Gary E; Roberts, Joanne E et al. (2011) Narrative Skill in Boys with Fragile X Syndrome with and without Autism Spectrum Disorder. Appl Psycholinguist 32:359-388
Estigarribia, Bruno; Erwick Roberts, Joanne; Sideris, John et al. (2010) Expressive morphosyntax in boys with Fragile X syndrome with and without autism spectrum disorder. Int J Lang Commun Disord :
Martin, Gary E; Klusek, Jessica; Estigarribia, Bruno et al. (2009) Language Characteristics of Individuals with Down Syndrome. Top Lang Disord 29:112-132
Zajac, David J; Harris, Adrianne A; Roberts, Joanne E et al. (2009) Direct magnitude estimation of articulation rate in boys with fragile X syndrome. J Speech Lang Hear Res 52:1370-9
Barnes, Elizabeth; Roberts, Joanne; Long, Steven H et al. (2009) Phonological accuracy and intelligibility in connected speech of boys with fragile X syndrome or Down syndrome. J Speech Lang Hear Res 52:1048-61
Price, Johanna R; Roberts, Joanne E; Hennon, Elizabeth A et al. (2008) Syntactic complexity during conversation of boys with fragile X syndrome and Down syndrome. J Speech Lang Hear Res 51:3-15
Roberts, Joanne; Martin, Gary E; Moskowitz, Lauren et al. (2007) Discourse skills of boys with fragile X syndrome in comparison to boys with Down syndrome. J Speech Lang Hear Res 50:475-92
Roberts, Joanne E; Hennon, Elizabeth A; Price, Johanna R et al. (2007) Expressive language during conversational speech in boys with fragile X syndrome. Am J Ment Retard 112:1-17

Showing the most recent 10 out of 16 publications