Fragile X syndrome is the leading inherited cause of intellectual disability, with the majority of males (95%) having IQs below 70. Most males with fragile X display autistic-like behaviors, and 25-30% meet the DSM-IV criteria for an autism co-diagnosis. Males with comorbid fragile X and autism are typically reported to have more severe overall impairments in cognition and receptive/expressive language. However, the language phenotype within fragile X only and comorbid fragile X and autism is extremely variable across individuals. Moreover, the impact of autism on the language phenotype of fragile X is not clear. The purpose of the proposed project is to determine if there is a grammatical deficit in FXS and in autism, while examining the consequences of comorbid autism on language in fragile X. Research on language development in developmental disabilities to date has been descriptive in nature, as opposed to theory-driven. There is however, a rich theory-driven line of research on grammatical development in children with language impairments. The extended optional infinitive account (EOI) posits that children with specific language impairment seem to get """"""""stuck"""""""" in an optional infinitive stage in which they treat the use of certain grammatical morphemes as optional, despite their obligatory status in the adult grammar. Preliminary evidence suggests that children with fragile X and children with autism may demonstrate a deficit in at least one aspect of grammatical development (i.e., finiteness marking;past tense: he walked) independent of nonverbal IQ. This project will advance preliminary work by examining all finiteness markers (BE/DO), as well as non-finiteness grammatical morphemes (i.e., plural -s, possessive -s, present progressive -ing). This investigation will inform whether boys with fragile X show a grammatical profile similar to SLI, or if their language is characterized by global difficulty with all grammatical morphemes. In addition, the impact of co-morbid autism on grammatical development will be examined by comparing boys with fragile X with and without autism and boys with idiopathic autism. Additionally, the proposed study will examine the most effective method of assessing grammar in boys with FXS and boys with autism. Sixty-three boys between the ages of 9-16 years will participate in this study: boys with FXS only, boys with FXS and autism, and boys with idiopathic autism. Participants will complete standardized tests, a language sample, autism diagnostic measures, and a sentence imitation task. These results will inform the phenotypes of fragile X and autism and provide insights into the nature of variability in language impairments across different etiological conditions. The information from the proposed studies will inform (1) hypotheses regarding neural constraints on language development as well as (2) clinical assessment and intervention procedures. This study lays the groundwork for future studies needed to assess additional aspects of the linguistic system.
The proposed research is relevant to public health given that it contributes to a program of research focused on significantly improving the communication abilities of children with intellectual disabilities, including fragile X and autism. The proposed project seeks to understand the best method of assessment of language in children with intellectual disabilities, which is relevant to NIDCD's mission to improve the lives of individuals with communication disorders. Additionally, by examining the impact of autism on fragile X, the proposed project will suggest hypotheses about neural constraints on language development, which is relevant to the mission of NIDCD and the NIH as a whole.
| Sterling, Audra (2018) Grammar in Boys With Idiopathic Autism Spectrum Disorder and Boys With Fragile X Syndrome Plus Autism Spectrum Disorder. J Speech Lang Hear Res 61:857-869 |
| Friedman, Laura; Sterling, Audra; Barton-Hulsey, Andrea (2018) Gaze avoidance and perseverative language in fragile X syndrome and autism spectrum disorder: brief report. Dev Neurorehabil 21:137-140 |
| Haebig, Eileen; Sterling, Audra (2017) Investigating the Receptive-Expressive Vocabulary Profile in Children with Idiopathic ASD and Comorbid ASD and Fragile X Syndrome. J Autism Dev Disord 47:260-274 |
| Movaghar, Arezoo; Mailick, Marsha; Sterling, Audra et al. (2017) Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes. Sci Rep 7:2674 |
| Haebig, Eileen; Sterling, Audra; Hoover, Jill (2016) Examining the Language Phenotype in Children With Typical Development, Specific Language Impairment, and Fragile X Syndrome. J Speech Lang Hear Res 59:1046-1058 |
