Speech disturbances (cluttering) in mildly impaired males with the Martin‐Bell/fragile X syndrome

Abstract

The language characteristics of fra(X) males (n = 10) with an IQ greater than or equal to 70 were evaluated. Language testing demonstrated relatively stronger receptive vocabulary skills compared to weak auditory memory and processing skills. A characteristic speech and language disturbance, cluttering, was present in 9 of the 10 study patients. Their speech was characterized by a fast and fluctuating rate of speech, and repetitions of sounds, words or phrases. Other aspects of cluttering including attentional problems, hyperactivity, motor delays and reading difficulties are commonly seen in the fra(X) syndrome. Cluttering may be helpful in identifying the fra(X) syndrome in a male who is not retarded.

Language and communication in fragile X syndrome

“…Affected males display an unusual variability is speaking rate that consists of unpredictable shifts from rapid to slower rates [Hanson et al, 1986]. Variability in rate is seen across all levels of IQ [Hanson et al, 1986], but may be more prevalent in adolescents and adults than in boys [Borghgraef, 1987].…”

Características da comunicação em indivíduos com a síndrome do X frágil

“…Acima de 12 e até 34 anos, há número significativo de indivíduos em etapas iniciais da comunicação oral 16 . 15,[18][19][20] . Tais manifestações são caracterizadas como fala com repetições de expressões e/ ou frases, ou ainda, ininterrupta e inapropriada sobre um mesmo assunto, a fim de aumentar o prazo para a elaboração da resposta, na tentativa de encontrar o que deveria vir a seguir, uma palavra ou uma frase, para estabelecer estrutura sintática que permitisse a sustentação do diálogo 20 .…”

“…Tais manifestações são caracterizadas como fala com repetições de expressões e/ ou frases, ou ainda, ininterrupta e inapropriada sobre um mesmo assunto, a fim de aumentar o prazo para a elaboração da resposta, na tentativa de encontrar o que deveria vir a seguir, uma palavra ou uma frase, para estabelecer estrutura sintática que permitisse a sustentação do diálogo 20 . Ainda é frequente encontrar-se na fala de indiví-duos com SXF, distúrbios sintáticos e inconsistência no quadro fonético-fonológico 16,22,23 , além de dificuldade em sequencializar movimentos; os dois úl-timos itens caracterizam o quadro de apraxia fonoarticulatória em indivíduos com SXF 18,23 . A fala na SXF é ser comumente caracterizada como rápida e disfluente.…”

Language phenotypes and intervention planning: Bridging research and practice

“…Spcech-related expressive difficulties have been reported in terms of articulation and sound-sequencing difficulties, poor overall intelligibility, a harsh vocal quality, and a variable, impulsive, and rapid speech rate [Newell et al, 1983;Paul et al, 1984;Hanson et al, 1986;Wolf-Schein et al, 1987;Abbeduto and Hagerman, 1997]. Some of the speech difficulties reported in this population have: been a suggested function of a developmental dyspraxia of speech (i.e., difficulties related to the motor planning involved in speech sound production [Dykens et al, 1994;Abbeduto and Hagerman, 1997].…”

“…Although limited, syntactic usc studies of children with FXS haw suggested delays relative to MA-expectancies; however, receptive morpho-syntactic skills appear to be on par with mental age in school-age and adolescent boys [Paul et al, 1984;Abbeduto et al, 2003]. Fluency-related expressive difficulties have been noted in an increased number of dysfluencies, though it has been suggested that these dysfluencies are fewer than those observed in a stuttering disorder [Newell et al, 1983;Paul et al, 1984;Hanson et al, 1986;Wolf-Schein et al, 1987]. Pragmatics-relatcd expressive language difficulties have been distilled into the fragile X syndrome-specific use of deviant, repetitive, and tangential language that is distinguishable, in terms of an increased frequency, from children with autism and children with mental retarelation not caused by fragile X syndrome [Wolf-Schein et al, 1987;Sudhalter et al, 1990;Belser and Sudhalter, 2001;Sudhalter and Belser, 2001].…”