Language and communication in fragile X syndrome

Abstract

In this article, we describe the language and communication problems of individuals with fragile X syndrome (FXS). FXS is a common genetic disorder resulting from a single‐gene mutation on the X chromosome. It is associated with a wide spectrum of physical, behavioral, cognitive, and language problems. Males are typically more severely affected than females, with the vast majority of males having mental retardation. Language and communication are negatively affected by problems in oral‐motor structure and function and by conductive hearing loss associated with recurrent otitis media. Speech problems of males with FXS include variability in rate and stuttering‐like repetition of sounds. The pattern of speech problems displayed by males is unique to FXS and may reflect a form of developmental dyspraxia. Lexical development is serious delayed in males with FXS. It is less clear, however, whether lexical development keeps pace with achievements in cognitive development and whether receptive and expressive vocabularies are equally impaired. Morphosyntactic development is delayed in males with FXS, with receptive morphosyntax being mental‐age‐appropriate. It is less clear whether expressive morphosyntactic keeps pace with mental age in affected males. Communication problems are characteristic of both males and females and include features that are syndrome‐specific. Most notable among the features displayed by males with FXS is perseveration on a word, phrase, or topic in conversation. Several hypotheses have been advanced to explain this perseveration, but the most promising focus is on hyperarousal and frontal‐lobe‐executive function deficits. Females with FXS display a run‐on, disorganized, and tangential style of conversation that may result from their well‐documented frontal‐lobe‐executive function deficits. Language and communication intervention for affected individuals requires coordination of medical and behavioral approaches, with the involvement of professionals from several disciplines. Future research must focus on females, on language problems suggested by clinical experience, and on connections between language and communication problems and problems at the neurological and molecular genetic levels. MRDD Research Reviews 1997;3:313–322. © 1997 Wiley‐Liss, Inc.

Do Children With Fragile X Syndrome Show Declines or Plateaus in Adaptive Behavior?

“…Declines in skills such as these are likely to limit development of independence and influence interactions in the community and in future employment situations (Greenspan & Schoultz, 1981; Mueller, 1988). We also observed declines in adaptive communication for 15% of our sample, which is also in line with the phenotypic weakness in expressive and receptive language that has been noted in FXS (Abbeduto & Hagerman, 1997; Roberts, Mirrett, Anderson, Burchinal, & Neebe, 2002; Roberts, Mirrett, & Burchinal, 2001). Therefore, the declines we observed in both socialization and communication may have been influenced by the cumulative effect of limited early social interactions and/or poor receptive and expressive language skills.…”

Communication in fragile X syndrome: Patterns and implications for assessment and intervention

“…Recent research has found that increased autistic symptomatology is generally associated with greater communication delay in FXS, and this is in agreement with previous research (Abbeduto and Hagerman, 1997;Abbeduto et al, 2007;Finestack et al, 2009;Fielding-Gebhardt and Warren, 2019;Mattie and Hamrick, 2022). The impact of autistic symptomatology has been demonstrated in gestures, gaze shift, and initiation of joint attention (Flenthrope and Brady, 2010;Hahn et al, 2016Hahn et al, , 2017Brewe et al, 2018;Rague et al, 2018;Hughes et al, 2019).…”

“…As in receptive language, there is general consensus that expressive language in FXS is significantly delayed relative to chronological age expectations (Abbeduto and Hagerman, 1997;Abbeduto et al, 2007;Finestack et al, 2009). These delays have been found in previous studies in both expressive vocabulary and expressive morphosyntax, when assessed through traditional standardized assessment as well as language sampling.…”

Expressive language development in adolescents with Down syndrome and fragile X syndrome: change over time and the role of family-related factors

“…Although individuals with DS and those with FXS both show impairments in receptive language, these impairments tend to be consistent with expectations based on their levels of cognitive functioning [8][9][10][11]. In contrast, expressive language development typically lags behind receptive language and cognition for both individuals with DS [12] and males with FXS [13].…”