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.

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back

“…While receptive language skills are usually below chronological age expectations, they are commensurate with nonverbal mental age [29], and receptive vocabulary, a major strength, can be well above mental age. However, individuals with comorbid FXS and autism have receptive language skills below their nonverbal mental age, and as autism severity increases so do the deficits in receptive vocabulary and grammar [30,31].…”

“…However, individuals with comorbid FXS and autism have receptive language skills below their nonverbal mental age, and as autism severity increases so do the deficits in receptive vocabulary and grammar [30,31]. Expressive language is delayed, with nonverbal mental age being a strong predictor of expressive vocabulary [29].…”

Serotonin dysregulation in Fragile X Syndrome: implications for treatment

“…Recent evidence shows that SSRI treatment may confer non-classical benefits to patients with FXS as well (65). A core symptom in this patient population is difficulty in language acquisition and communication (1).…”

“…A hallmark feature of FXS is delay in receptive and expressive language development and this is often the presenting sign of FXS in early childhood (1,2). Symptoms of anxiety, attention deficit hyperactivity disorder (ADHD), and hyperarousal with sensory stimuli are all typical of children with FXS (3)(4)(5)(6)(7)(8).…”

Communication in Young Children With Fragile X Syndrome: A Qualitative Study of Mothers' Perspectives

“…development, with males being more severely affected than females ( Abbeduto & Hagerman, 1997). Moderate to severe delays have been reported in all aspects of language development including expressive and receptive vocabulary, syntax, and pragmatics (Fryns, Jacobs, Kleczkowska, & Van den Berghe, 1984;Newell, Sanborn, & Hagerman, 1983;Roberts et al, 2001;Sudhalter, Scarborough, & Cohen, 1991).…”