Fragile‐X syndrome in Hawaii: A summary of clinical experience

Rhoads, Frances A.; Opitz, John M.

doi:10.1002/ajmg.1320170113

Cited by 21 publications

(7 citation statements)

References 4 publications

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“…Fra(X) adults performed better than control subjects in receptive and expressive vocabulary and word knowledge, in verbal-expressive skills when labeling the environment and when verbalising thoughts and ideas and in verbal short term memory. Others have also argued an extensive expressive and receptive vocabulary in the fra(X) group [Cianchetti et al, 1992;Freund and Reiss, 1991;Rhoads, 1984;Theobald et al, 19871. This could be explained by long term memory skills [Barnes, 19891.…”

Section: Discussionmentioning

confidence: 97%

Cognitive functioning and information processing of adult mentally retarded men with fragile‐X syndrome

et al. 1994

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The present study describes cognitive skills and information processing strategies of mentally retarded fra(X) men. Fifty-eight fra(X) positive and 58 fra(X) negative adults, matched on sex, chronological age, length of institutionalisation, general cognitive level, and living conditions, were evaluated with the Bayley or McCarthy Scales of Mental Abilities. Mental ages were mostly situated in the severe mental handicap category and were found to be negatively influenced by chronological age. A relative strength in perceptual performance and non-verbal reasoning and a deficit in sequential information processing turned out to be typical of all mentally retarded subjects, irrespective of fra(X) or control status. Fra(X) adults could be significantly differentiated from control persons on the ground of a higher level of acquired knowledge because of better vocabulary and verbal-expressive skills. On the other hand, they were less able to imitate non-verbal patterns, had more difficulty with visual-motor integration and co-ordination, and applied less efficient general mental processing skills in solving new problems. The memory profile of fra(X) adults was strongly determined by the meaning and the complexity of the information that has to be reproduced. In this article the profile of cognitive strengths and weaknesses in the fra(X) group will be discussed and some general advice for training is suggested.

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Section: Discussionmentioning

confidence: 97%

Cognitive functioning and information processing of adult mentally retarded men with fragile‐X syndrome

et al. 1994

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“…However, the face is different from the typical MBS face, which is long and narrow with high forehead, midface hypoplasia, bulbous nose, large, prominent ears, and prognathic mandible Jennings et al, 1980;Jacobs et al, 1980;Carpenter et al, 19821. Some studies have found MBS subjects to be slightly short [Meryash et al, 19841;Rhoads [1984] reported one-fourth of affected individuals to be obese. However, MBS patients have generally been of normal stature with proportional weight.…”

Section: Discussionmentioning

confidence: 99%

A new X‐linked mental retardation syndrome

Atkin

Flaitz

Patil³

et al. 1985

Am. J. Med. Genet.

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We have studied a three-generation family with 11 moderately to severely retarded males and three mildly retarded females (presumably manifesting carriers). The patients have a phenotype different from that of all other previously described types of X-linked MR (XLMR). These include short stature, macrocephaly, "coarse" facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism (volume greater than 25 ml). Chromosomes were normal including fragile X analysis. X-ray findings of skull, spine, and hands were normal. The intellectually normal relatives do not resemble their affected relatives except for increased head size and testicular size. These findings suggest a new variant of XLMR different from fragile X-linked MR, the Coffin-Lowry syndrome, and other XLMR conditions.

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“…One finds such various labels as a perseverative speech pattern, a repetitive speech pattern, dysfluent speech, stuttering, cluttering, fast speech, dysrhythmia and also verbal apraxia and developmental apraxia. Symptoms mentioned are repetitions, prolongations and interjections of sounds, repetitions of words and phrases, blocks, reformulations with false starts and selfcorrections, and also palilalia (Belser & Sudhalter, 2001;Hagerman & McBogg, 1983;Jacobs, Glover, & Mayer, 1980;McLaughlin & Kriegsman, 1980;Rhoads, 1984;Vilkman, Niemi, & Ikonen, 1988;Wolf-Schein et al, 1987). These patterns of speech are indeed consistent with developmental stuttering, but are also consistent with other types of nonfluencies that are not stuttering.…”

Section: Fragile X Syndromementioning

confidence: 95%

“…Yet, Rhoads (1984), in a group of 15 affected males in Hawaii, found that repetition of words or phrases occurred particularly at the ends of sentences. This unusual pattern of fluency breakdown may be useful in differential diagnoses in the future, however, the patterns of sentence ending word and phrase repetitions has not been verified in other studies of speech characteristics of individuals with fragile X syndrome.…”

Section: Fragile X Syndromementioning

confidence: 96%