A comparison of language characteristics of mentally retarded adults with fragile X syndrome and those with nonspecific mental retardation and autism

Abstract

Fragile X syndrome is a recently identified form of mental retardation that is associated with a chromosomal abnormality and inherited in an X-linked manner. Previous studies have suggested that distinctive speech and language characteristics are associated with the syndrome. Twelve adult male residents of an institution for the retarded (aged 23 to 51 years) were compared on a series of speech and language measures to 12 adult males with nonspecific forms of MR who were residents of the same institution and were matched on age and IQ. A second contrast group consisted of similarly matched autistic men. Results revealed that there were no significant differences among the groups' performance, with the exception of increased rates of echolalia in the autistic group. A nonsignificant trend toward poorer performance on expressive measures on the part of the fragile X group was noted. The implications of these findings for further research on the syndrome are discussed.

Language phenotypes and intervention planning: Bridging research and practice

“…Fidler et al Page 8 A relative strength in receptive language compared to expressive language has been suggested to contribute to the fragile X syndrome communicative phenotype of young boys with fragile X syndrome rRobcrrs et al, 20011. This advantaged receptive language profile has been found in children with a mean age as young as 34 months, as well as in three other studies of older children with fragile X syndrome [Paul et al, 1984;Paul et al, 1987;Roberts et al, 2001;Philofsky et al, 2004]. Specitically, receptive language skills have been reported to grow at about half the rate of typically developing children, while expressive language skills were reported to increase at about one-third the rate of typical development owr time in young children with fragile X syndrome (Roberts et al,200 I).…”

“…Although fragile X syndrome remains among the least understood of disorders with known behavioral pheno-types with respect to language symptoms [Rice et al, 2005], a growing body of work has begun to create an emerging communication phenotype for children with the disorder [Paul et al, 1987;Abbeduto and Hagerman, 1997;Belser and Sudhalter, 2001;Roberts et al, 2001: Sudhalter andRice et al, 2005]. Although the majority of language studies in tragile X syndrome have focused on older children and adolescents with the disnrder, more recent studies haw begun to consider younger children with fragile X syndrome [Roberts et al, 2001;Roberts et al, 2002;Mirrett et al, 2004;Philofsky et al, 2004;Brady et al, in press].…”

Aphasia, deafness, or mental retardation.

“…Such cryptic information is virtually useless. To show the absence of a peripheral hearing defect a basic minimum protocol includes: (1) consistently normal pure tone audiometry, especially at high tones; (2) mental retardation are again confounded. Another X linked disorder was originally described as 'mental retardation-aphasiashuffling gait-adducted thumbs, but aphasia was later reclassified as speech delay4 or abnormality.2 This is not surprising given that the index case8 actually had higher verbal than non-verbal IQ (Stanford-Binet IQ 55, Raven IQ 41); hearing was not tested ('hearing appears to be grossly intact').…”

Phenotypic And Electrophysiologic Characterization of a Mouse Model of Fragile X Syndrome

“…Cerebellar neuropathologies are consistently found in human fragile X patients (Mostofsky et al 1998;Zingerevich et al 2009). Speech articulation deficits are common problem in FXS patients (Abbeduto, Brady, & Kover 2007;Barnes, Roberts, Mirrett, Sideris, & Misenheimer 2006;Newell, Sanborn, & Hagerman 1983;Paul, Dykens, Leckman, Watson, Breg, & Cohen 1987) suggests that the ormotor deficits in Fmr1-KO mice described here and the speech articulation deficits in fragile X patients might have common neuronal causes associated with cerebellar dysfunction.…”

“…Clinical features include, anxiety (Katarzyna LesniakKarpiak et al 2003), mental retardation (Feng et al 1997) motor coordination (Koukoui and Chaudhuri 2007) and speech articulation deficits (Abbeduto et al 2007; Barnes et al 2006;Newell et al 1983;Paul et al 1987). Besides these phenotypic abnormalities, FXS patients are also characterized by a high incidence of cortical EEG abnormalities and seizure syndromes resembling benign childhood epilepsy with centrotemporal spikes, also known as "Rolandic" epilepsy (Berry-Kravis 2002;Berry-Kravis et al 2010;Musumeci et al 1994;Musumeci et al 1999).…”