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Subtyping Children with Speech Sound Disorders by Endophenotypes

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Subtyping Children with Speech Sound Disorders by Endophenotypes Top Lang Disorders Vol. 31, No. 2, pp. 112–127 Copyright c 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins Subtyping Children With Speech Sound Disorders by Endophenotypes Barbara A. Lewis, Allison A. Avrich, Lisa A. Freebairn, H. Gerry Taylor, Sudha K. Iyengar, and Catherine M. Stein Purpose: The present study examined associations of 5 endophenotypes (i.e., measurable skills that are closely associated with speech sound disorders and are useful in detecting genetic in- fluences on speech sound production), oral motor skills, phonological memory, phonological awareness, vocabulary, and speeded naming, with 3 clinical criteria for classifying speech sound disorders: severity of speech sound disorders, our previously reported clinical subtypes (speech sound disorders alone, speech sound disorders with language impairment, and childhood apraxia of speech), and the comorbid condition of reading disorders. Participants and Method: Chil- dren with speech sound disorders and their siblings were assessed at early childhood (ages 4– 7 years) on measures of the 5 endophenotypes. Severity of speech sound disorders was deter- mined using the z score for Percent Consonants Correct—Revised (developed by Shriberg, Austin, Lewis, McSweeny, & Wilson, 1997). Analyses of variance were employed to determine how these endophenotypes differed among the clinical subtypes of speech sound disorders. Results and Conclusions: Phonological memory was related to all 3 clinical classifications of speech sound disorders. Our previous subtypes of speech sound disorders and comorbid conditions of language impairment and reading disorder were associated with phonological awareness, while severity of speech sound disorders was weakly associated with this endophenotype. Vocabulary was as- sociated with mild versus moderate speech sound disorders, as well as comorbid conditions of language impairment and reading disorder. These 3 endophenotypes proved useful in differentiat- ing subtypes of speech sound disorders and in validating current clinical classifications of speech sound disorders. Key words: endophenotypes, oral motor skills, phonological awareness, phonological memory, severity, speech sound disorders, speeded naming, subtypes, vocabulary HILDREN with early speech sound dis- Author Affiliation: Departments of Psychological C orders (SSD) of unknown etiology com- Sciences (Dr Lewis and Ms Freebairn), Epidemiology prise a heterogenous group with high preva- and Biostatistics (Ms Avrich and Drs Iyengar and lence rates, especially during the preschool Stein), and Pediatrics (Dr Taylor), Case Western Reserve University, Cleveland, Ohio. years (Campbell et al., 2003). Subgrouping This research was supported by the National Institutes children into clinically validated subtypes of of Health, National Institute on Deafness and Other SSD allows for more precision in the diag- Communication Disorders, Grant DC00528, awarded nosis, treatment, and prognosis of these dis- to Barbara A. Lewis and a Multidisciplinary Clinical Re- search Development Programs Grant (KL22RR024990) orders. However, to date, there is no sin- from the National Center for Research Resources gle classification system of SSD that is em- awarded to Catherine M. Stein. ployed uniformly by SLPs (speech-language The authors thank Dr Lawrence D. Shriberg, the pathologists). Children with SSD may be speech/language pathologists who assisted them in re- cruiting participants, and the families who generously grouped differently depending on whether agreed to participate. or not the subgroups are based on hypoth- Corresponding Author: Barbara A. Lewis, PhD, esized etiology (Shriberg et al., 2005), psy- Department of Psychological Sciences, Case Western Reserve University, 11635 Euclid Avenue, Room 330, cholinguistic models (Stackhouse & Wells, Cleveland, OH 44106 (e-mail: [email protected]). 1997), or behavioral symptoms of SSD (e.g., DOI: 10.1097/TLD.0b013e318217b5dd phonological processes; Dodd, 2005). These 112 Subtyping Using Endophenotypes 113 classification systems have provided insight process analyses or classification of errors as into the nature of SSD and have resulted in omissions, substitutions, or distortions, imply different diagnostic categories and treatment an assumption that children with similar error approaches. However, comorbidity of sub- types share a common etiology and/or may types (e.g., a combined articulation and benefit from similar treatment approaches. phonological disorder), as well as different Children with a large proportion of omis- combinations of related disorders such as lan- sion errors, for example, have been consid- guage impairment (LI) and reading disorders ered to have a linguistically based disorder (RD), result in overlapping diagnostic cate- rather than a motor-based disorder and have gories, complicating understanding of causal been viewed as qualitatively different from relationships and choices of treatment ap- children with primarily substitution or dis- proaches. tortion errors (Panagos, 1974). Preston and Some past studies have subtyped children Edwards (2010) found that children with atyp- with SSD based on the clinical features of ical speech sound errors had poorer phono- the disorders, such as speech sound errors logical awareness skills and lower receptive and comorbid LI. Other studies have exam- vocabularies than children with more typical ined associations of cognitive–linguistic skills speech sound errors. or endophenotypes with SSD. Endopheno- Other classification systems have grouped types are objectively measurable cognitive, children with SSD on the basis of a combi- linguistic, or neuropsychological parameters nation of factors that include history, sever- that are closely associated with a specific be- ity, and associated conditions, as well as havioral trait and are useful in detecting ge- speech sound error characteristics (Dodd, netic influences on the behavioral phenotype 2005; Shriberg, 1994; Shriberg & Kwiatowski, (Gottesman & Gould, 2003; Inoue & Lupski, 1988; Shriberg, Kwiatkowski, Best, Hengst, 2003), for example, phoneme awareness has & Terselic-Weber, 1986). Such systems have been associated with RD. Few studies, how- been useful clinically in deriving diagnostic ever, have investigated the extent to which profiles of children with SSD. For example, endophenotypes are related to classifications a system proposed by Dodd (2005) classi- based on the clinical features of SSD. As en- fies SSD into five subtypes: articulation dis- dophenotypes relate more directly to under- order, delayed phonological acquisition, con- lying genetic influences (Gottesman & Gould, sistent deviant disorder, inconsistent deviant 2003), differential association of these skills disorder, and other (including dysfluency, with clinical features of SSD may help to elu- dysarthria, and apraxia of speech). This sys- cidate the sources of important clinical varia- tem does not consider the etiology of the SSD, tions. and, therefore, children within a subtype may have diverse hypothesized causal factors that SUBTYPING SSD ON THE BASIS OF may influence prognosis and treatment. SPEECH ERRORS Another framework for subtyping children with SSD that does consider etiology, pro- Previous attempts to subtype children with posed by Shriberg and colleagues (Shriberg, SSD have relied on various classifications of 1993; Shriberg et al., 2005; Shriberg & features of the child’s speech. Traditionally, Kwiatkowski, 1982, 1994; Shriberg, 2010), clinical severity ratings of the disorder as mild, is the Speech Disorder Classification Sys- moderate, or severe have depended on the tem (SDCS). This classification system pro- SLP’s judgment of the child’s intelligibility poses seven subtypes of SSD: speech delay— in conversational speech or the number of genetic, speech delay—otitis media with effu- speech sound errors that the child exhibits sion, speech delay—apraxia, speech delay— on a standardized articulation test. Analyses dysarthria, speech delay—developmental of speech error types, such as phonological psychosocial involvement, and two categories 114 TOPICS IN LANGUAGE DISORDERS/APRIL–JUNE 2011 of speech errors limited to distortions of dren with isolated SSD. This suggests that co- speech sounds. Children with speech delay— morbid conditions such as LI may not be use- apraxia, also called childhood apraxia of ful in forming subgroups of children with SSD speech (CAS), are of particular interest be- at early childhood. cause of the severity of the disorder, the prolonged course of treatment, and the dis- tinct speech characteristics (see the American ASSOCIATIONS OF ENDOPHENOTYPES Speech-Language-Hearing Association [ASHA] WITH SSD position statement report for a detailed de- scription; ASHA, 2007). In our previous stud- Recently, genetic studies of SSD have exam- ies, we have demonstrated that children with ined endophenotypes as the presumed her- CAS represent a distinct subtype of SSD itable components that reflect genetic influ- with a long-term impact on school-age aca- ences leading to SSD. Endophenotypes are demic skills (Lewis, Freebairn, Hansen, Tay- thought to influence clinical phenotypes such lor, Iyengar, & Shriberg, 2004; Lewis, Free- as SSD, LI, and RD (Bishop & Snowling, bairn, Hansen, Iyengar, & Taylor, 2004). 2004; Castellanos & Tannock, 2002; Fisher & DeFries, 2002; Pennington, 1997). The en- SUBTYPING BY COMORBID LI dophenotype is hypothesized to involve fewer genes than the clinical phenotype, sim- One factor that appears to distinguish plifying the genetic
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