Critical review
Fluency disorders in genetic syndromes

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Abstract

The characteristics of various genetic syndromes have included “stuttering” as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list “stuttering” as a characteristic of that syndrome. An extensive review of these syndromes indicated clients diagnosed with these syndromes do show evidence of nonfluency patterns, but not all would be considered stuttering. Many of the syndromes are marked by degrees of mental retardation that probably contribute to a higher than average prevalence of stuttering, as well as a higher than average prevalence of other fluency disorders (when compared to the population at large).

An in-depth analysis of the available data indicates that some of these genetic syndromes show patterns of stuttering that may be indicative of only that syndrome (or similar syndromes) that can be differentially diagnosed from developmental stuttering. Among these patterns are the word-final nonfluencies noted in Prader-Willi syndrome; the presence of stuttering in the absence of secondary behaviors noted in Prader-Willi syndrome and; the presence of palilalia, word-final and word-medial nonfluencies, and word-medial and word-final nonfluencies in Tourette syndrome. Implications for future research are discussed in light of these findings.

Educational objectives: The reader will be able to: (1) describe the various different genetic syndromes that are associated with fluency disorders; (2) describe the types of nonfluencies that are associated with the major types of genetic syndromes that have fluency disorders; (3) describe the behaviors that may assist in differentially diagnosing different types of speech characteristics associated with various genetic syndromes.

Introduction

It is well known that certain genetic syndromes are associated with communication disorders. For example, Adler (1976) suggested a strong link between specific syndromes and resulting speech and language disorders. Yet, the study of communication disorders in genetic syndromes has only gained significant interest in the past few years, most likely with the expansion of knowledge in the human genome project. Only recently have attempts been made to compile the available sparse information in order to gain a more comprehensive picture of the occurrence of communication disorders in genetic syndromes.

The most extensive overview to date is that of Shprintzen (1997) who compiled data on the major features, primary etiology, speech production, resonance, voice, language and hearing of 334 syndromes. Remarkably, the occurrence of stuttering or other fluency disorders received little mention on this list. The only two exceptions include Down syndrome and fragile X syndrome. In Down syndrome it said that “dysfluency” and “rapid bursts of speech” may occur (Shprintzen, 1997, p. 226). Information in fragile X syndrome is slightly more extensive: “dysfluency with classical stuttering and in some cases, ‘cluttering’; in more severe cases, nonsensical short bursts of perseverative or absent speech” (Shprintzen, 1997, p. 264). With these shortfalls in mind, the purpose of the present paper is to give a more detailed review of the occurrence and nature of fluency disorders in a number of genetic syndromes. In addition to Down syndrome and fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, neurofibromatosis type I, and Turner syndrome will be discussed. It should be recognized that these syndromes vary with respect to their underlying cause and to the presence of any associated problems (in particular mental retardation). They were included in the present review because, as far as we could ascertain, they are the only ones for which some information on speech nonfluencies is available. This was established through searches of several major search engines, and follow-up review of the articles. In some cases, the terms “stuttering” and/or “disfluency” appeared in the citation or abstract, however, specific definitions or descriptions of these terms were not provided. For ease of understanding, the term “developmental stuttering” will be used throughout this review. This term will be used to refer to the most typical types of stuttering seen in children and adults, that is, the term will not be used to describe stuttering associated with acquired neurological disorders (Helm-Estabrooks, 1999), acquired psychogenic stuttering (Baumgartner, 1999), or cluttering (St. Louis, 1992). For clarification, acquired neurogenic stuttering refers to transient stuttering that begins with the onset of a specific, identifiable neurological event (ASHA, 1999); acquired psychogenic stuttering refers to stuttering that is clearly related to psychopathology (ASHA, 1999); and cluttering refers to a fluency disorder that is not stuttering and is characterized by rapid and/or irregular speech rate, along with associated disturbances in language and/or attention. In addition to this terminology, the following terms will be used throughout this manuscript for ease in understanding and interpretation.

Disfluency: The non-stuttered breakdowns in fluent speech. The term disfluency will be used to identify the types on fluency breakdowns that are not considered to be stuttering and include interjections of sounds, repetitions of phrases, revisions, and incomplete phrases (Johnson, 1959; Silverman & Williams, 1967), as well as other forms of non-stuttered fluency breakdowns, such as circumlocutions, additions, and verbal mazes (Paul, Tetnowski, & Reuler, 2007).

Dysfluency: The stuttered breakdowns in fluent speech. These are the most common breakdowns in fluency that are perceived by listeners to be stuttering (Yairi, 1996) and those breakdowns in fluency that are most likely classified as stuttering according to experts in the field of stuttering (Ham, 1989). This term is synonymous with stuttering (ASHA, 1999), and following the lead of Yairi, will be referred to as stuttering-like disfluencies (SLD) throughout the remainder of this manuscript. The terms SLD and stuttering will be used to identify the part-word repetitions, single syllable word repetitions, prolongations, and blocks that are most consistently identified as stuttering.

Nonfluency: In many research papers, breakdowns in fluency are not clearly delineated as being either “disfluency” or “SLD”. Some of these same papers do not clearly describe whether they are referring to disfluency or SLD. The term “fluency” refers to the continuity of spoken language units (ASHA, 1999), and is the opposing term of “nonfluency”. Throughout this review, nonfluency will be the catch-all term used to refer to all breakdowns in fluency. This term will include non-determinate types of fluency breakdown that can include both categories (i.e., disfluencies and SLD).

Section snippets

Down syndrome

Down syndrome is a well-known condition resulting from trisomy 21. It is characterized by some typical physical characteristics such as a short stature, a flat occiput, small and slanting palpebral fissures, epicanthic folds (skin folds of the upper eyelid covering the inner corner of the eye), a depressed nasal bridge, a small nose, and an overlarge tongue relative to the size of the mouth. The syndrome is also associated with behavioral characteristics including the presence of speech and

Fragile X syndrome

With an estimated prevalence of 1/4000 in males and 1/8000 in females, fragile X syndrome is the second most frequent cause of mental retardation of genetic origin after Down syndrome (Goldson & Hagerman, 1992; Turner, Webb, Wake, & Robinson, 1996). The condition finds its origin in a defect on the long arm of the X-chromosome and has as typical physical features a prominent mandible, a long and narrow face, large low-set ears, hyperextensible finger joints, and macro-orchidism (testicular

Prader-Willi syndrome

Prader-Willi syndrome is a multiple anomaly disorder with an incidence estimated at 1/5000 to 1/25000 (Akefeldt, Gillberg, & Larson, 1991; Burd, Vesely, Matsolf, & Kerbeshian, 1990; Greenswag & Alexander, 1995). The syndrome results from the loss of imprinted genomic material within the paternal 15q11.2-13 locus. Deletion of the same part of the chromosome in the mother leads to Angelman syndrome. Typical clinical features of Prader-Willi syndrome include hypotonia at birth, hypogonadism

Tourette syndrome

A syndrome that is often discussed in relation to stuttering is Tourette syndrome. Tourette syndrome, named after the French physician, Georges Gilles de la Tourette, is characterized by the presence of multiple motor tics and one or more vocal tics that cause marked distress or significant impairment in social, occupational, or other important areas of functioning. It has its onset before the age of 18 and is not due to the direct physiological effects of a substance or a general medical

Neurofibromatosis type I

Neurofibromatosis type I, formerly called Von Recklinghausen disease, is a progressive autosomal dominant disorder with an estimated prevalence of two to three cases per 10,000 population (Friedman, 1999). The condition is characterized by the presence of neurofibromas and abnormal cutaneous pigmentation including café-au-lait spots and axilliary freckling. The responsible gene is situated on the long arm of chromosome 17 (Barker et al., 1987).

A review of the literature (Bekaert, Van Borsel, &

Turner syndrome

Turner syndrome is a syndrome that occurs only in females with an estimated incidence of 1/2500 (Hook & Warburton, 1983). It is known to result from a missing X-chromosome with its main features being a short stature, ovarian dysgenesis (defective development of the ovaries), neck webbing, congenital peripheral lymphedema (swelling of the lymph passages), coarction of the aorta, cubitus valgus (deformity of the elbow in which the elbow deviates from the midline of the bone when extended),

Discussion and conclusion

It is clear that certain syndromes may be associated with a fluency disorder but also that knowledge is presently still very limited. This review exemplifies this shortcoming. For a number of syndromes, it is clear that they are closely linked with a fluency disorder and research on the prevalence and nature of the speech fluency disorder has already been conducted. This appears to be the case for Down syndrome, fragile X syndrome, Prader-Willi syndrome and Tourette syndrome. For other

John Van Borsel is a professor of logopedics and neurolinguistics at the Ghent University and an associate editor of Journal of Fluency Disorders. His research interests include fluency disorders, articulation and phonological disorders, genetic syndromes, and the voice in transsexuals. He has published numerous articles in international journals.

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    John Van Borsel is a professor of logopedics and neurolinguistics at the Ghent University and an associate editor of Journal of Fluency Disorders. His research interests include fluency disorders, articulation and phonological disorders, genetic syndromes, and the voice in transsexuals. He has published numerous articles in international journals.

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