Chapter 2 In the area of speech sound disorders (SSD), considerable barriers are engendered by difficult nomenclature. Picture new students, individuals re-entering the profession or clinicians switching from adult to child caseloads, facing the task of reading the SSD literature from the 1970s onwards, encountering a morass of conceptual, classificatory and descriptive terms. These terms come primarily from medicine, linguistics and psychology, only to be enveloped in a mystifying array of like-sounding terms, drawn from the study of literacy in the fields of education and psychology. Within and across disciplines, the same words are often used to denote different concepts and phenomena: ‘phonological processes’ being a case in point (Scarborough & Brady, 2002). Among the first things to strike the reader will be the impact of the medical model and symptomatological and aetiological frameworks, adopted singly or in tandem. Quickly realising the need for a medical or nursing dictionary and a glossary of key genetics terms (as in Table 2.1), the reader will discover broad, trichotomous symptomatic distinctions between articulation disorder, phonological disorder and childhood apraxia of speech (CAS). Historically, this was not the case. For example, Grunwell (1975), who really understood the difference, wrote an article with the paradoxical title: ‘The phonological analysis of articulation disorders’ that reflected the jumbled state of the terminology at the dawn of the phonological revolution. Table 2.1 Glossary of genetic terms Waring and Knight (2013) critically reviewed current classification systems for SSD, concluding that, ‘There is a need for a universally agreed-upon classification system that is useful to clinicians and researchers. The resulting classification system needs to be robust, reliable and valid. A universal classification system would allow for improved tailoring of treatments to subgroups of SSD which may, in turn, lead to improved treatment efficacy’ (p. 25). The most commonly used classification system in clinical settings is based around three aetiological distinctions: unknown cause, putative or supposed cause and known cause. SSD is usually considered to be idiopathic, with ‘no identifiable causal factor’, and is often given the designation ‘functional speech disorder’. Here, ‘functional’ implies ‘unknown cause’. Children with functional SSD comprise the largest sub-group within child speech impairment, whereas children who have SSD of known (or ‘organic’) aetiology fall into several, much smaller sub-groupings. In a survey, Broomfield and Dodd (2004b) established that functional SSD affects 6.4% of all children in the United Kingdom; an interesting finding in relation to Shriberg and Kwiatkowski (1994) in the United States, who proposed that 7.5% of all children age 3–11 experienced SSD (of known and unknown aetiology). For some researchers (e.g., Gierut, 1998 in an important ‘state-of-the-art’ article), the large ‘functional’ component includes children with CAS, children with articulation disorders and children with phonological disorders, all included in the same category. Other scholars (e.g., Ruscello, 2008), who also make the known-versus-unknown aetiological distinction, place children with phonetic (articulatory) and phonemic (phonological) difficulties in the populous ‘unknown origin’ group, followed by small subgroups of children who have at least one observable explanation for their speech difficulties. From Ruscello’s perspective, children in these subgroups may exhibit a range of organic issues: craniofacial anomalies, such as cleft lip and palate or dental malocclusion; sensory impairments, such as hearing loss; and motor speech disorders, such as a dysarthria (Hodge, 2010), apraxia due to a known cause, or idiopathic CAS, affecting speech–motor planning and/or speech–motor execution, in varying combinations. Ruscello uses the overarching term ‘sound system disorder(s)’ (SSD) to embrace all possibilities as opposed to my preferred term, ‘speech sound disorder(s)’ (also SSD). A noteworthy aspect of the ‘functional’ speech disorders is that there are now suggested subgroups that are linked to causes (Flipsen, Jr., 2002). Drawing on data from several hundred case studies, Shriberg (2006) summarised seven putative subtypes of SSD (listed below) in a Speech Disorders Classification System (SDCS) based on genetic (inherited) and environmental risk factors. Furthermore, he suggested clinical prevalence percentages for the first four of these seven, coding them with ‘working terms’ and abbreviations as subtypes of speech delay. Prevalence was not estimated for a fifth speech delay subtype, Speech Delay-Dysarthria (SD-DYS), but potentially it would amount to less than 2% of the SSD speech delay population. In a separate SSD category of speech errors, Shriberg included Speech Errors-Sibilants (SE-/s/) and Speech Errors-Rhotics (SE-/r/). He added two additional (unnumbered) categories of SSD, also based on genetic and environmental risk factors whose working terms and abbreviations were Undifferentiated Speech Delay (USD) and Undifferentiated Speech Sound Disorder (USSD). An additional category, Motor Speech Disorder Not Otherwise Specified (MSD-NOS) was added in 2009 (Shriberg et al., 2010). Undifferentiated Speech Delay (USD) Undifferentiated Speech Sound Disorder (USSD) Shriberg classified the primary origin or probable aetiology of the putative subtypes as With regard to the processes affected, Shriberg’s breakdown was Waring & Knight (2013, p. 12) comment, ‘The SDCS is still primarily a research tool driven by a search for genetic factors associated with speech disorders. The value of the theoretical underpinnings of the SDCS may not be fully apparent until the repercussions of genetic research impact upon speech pathology, sometime in the future. If researchers are able to identify specific markers that can be readily employed by clinicians to classify children with SSD of unknown origin into the eight putative SDCS subgroups, the classification system would become clinically useful. Further validation is required before the SDCS is used as a clinical tool’. When classification systems based around aetiological distinctions with causal subgroups are applied, clinicians attempting differential diagnosis discover that the speech of some children is impossible to pigeonhole because it seems to ‘belong’ in more than one category. Broomfield and Dodd (2004a) discuss the unsurprising elusiveness of neat clinical categorisation, pointing out that it has caused several authors (Fox, Dodd & Howard, 2002; Stackhouse & Wells, 1997) to question the clinical utility of the aetiological approach. Commenting on Shriberg’s (1997) SDCS aetiological system, Broomfield and Dodd note three difficulties: (1) children do not fall easily into one subgroup or another; (2) it bears doubtful universality since it has not been trialled with non-English-speaking children; and (3) it provides no mechanism to account for developmental change. They go on to suggest that one alternative to the medical model approach is the theoretically strong psycholinguistic profiling approach proposed by Stackhouse and Wells (1997). But again, Broomfield and Dodd (2004a) are unconvinced, querying its utility on three points: one, its having little regard to surface phonology; two the lengthy diagnostic process involved in applying the framework; and three, the uncertainty of its universal applicability. By contrast, Dodd (1995, 2005) proposed a differential diagnosis model with psycholinguistic foundations that is based primarily on linguistic profiling and speech subtypes. In it, specific speech subtypes are matched to discrete areas of psycholinguistic difficulty or breakdown that are ‘testable’ or ‘differentially diagnosable’. Dodd’s model enjoys some support for its universal applicability (Goldstein, 1996; So & Dodd, 1994). It embraces four subtypes that can occur at any age or stage of speech development, plus a fifth category for CAS. They are Broomfield and Dodd (2004a) stress that children with CAS, as described by Ozanne (1995, 2005), have ‘deviant’ surface speech production patterns that may sound similar to those of children with inconsistent deviant phonological disorder. They point to key differences between the two, in terms of proposed level of breakdown and in terms of symptomatology. These differences are contrasted in Table 2.2 and the reader is referred to Dodd (2005) for interesting discussion. Table 2.2 A comparison of CAS and inconsistent deviant phonological disorder Commenting on the model, Waring and Knight (2005, p. 12) say, ‘Dodd’s differential diagnosis is a clinically feasible, inclusive classification system that divides children with SSD of unknown origin into discrete subgroups. More research is needed to profile the cognitive–linguistic difference between the subgroups. The validity of Dodd’s classification system would be strengthened by replication studies, conducted by different research groups’. Faced with a range of approaches to classification, clinicians and researchers tend to use cover terms differently from each other, and there is variation from clinician to clinician and from researcher to researcher, sometimes relative to ‘what they grew up with’. Clarity is achieved when ‘articulation disorder’ is taken to mean phonetic-level difficulties and ‘phonological disorder’ implies phonemic or cognitive–linguistic difficulties with organisation of the speech sound system. Nevertheless, in clinical settings, some speech-language pathologists and speech and language therapists (SLPs/SLTs) use the term ‘articulation disorder’ loosely and inaccurately. This is noticeable, and reasonable, when they opt for ‘articulation disorder’ to refer to any SSD, in explaining a child’s speech difficulties in what they perceive to be simple language, to people who do not have a background SSD. Less excusably, they also do it when using professional patois to communicate with SLP/SLT colleagues, referring to all speech disorders as ‘articulation disorders’ (or ‘artic’ disorders). Some authorities use ‘phonological disorder’ as an overarching heading that embraces phonological disorder, articulation disorder and other SSDs. For example, Gierut (1998) uses ‘functional phonological disorder’ synonymously with ‘phonological disorder’ and under that heading includes five groupings. The first two are phonetic disorders and phonemic disorders, and she is careful to note that these two are not mutually exclusive. The third is motor speech disorders, including ‘childhood apraxia’. Gierut’s fourth category encompasses functional phonological disorders associated with more global involvement of multiple aspects of the linguistic system, for example in children with specific language impairment (p. S86). The fifth is phonological disorders with organic bases, such as hearing impairment, craniofacial anomalies, ‘mental retardation’ (intellectual disability) and ‘childhood apraxia’ (again). She also mentions a sixth group of children: those with ‘phonological differences’ or ‘phonological difficulties’ who are culturally and linguistically diverse, pointing out that these children with ‘dialect differences, or native language differences’ may not have a phonological disorder as such. Rvachew and Brosseau-Lapré (2012) use ‘developmental phonological disorders’ (cf. Bowen, 1998a) in the title of a magnificent book that covers the range of developmental SSD across three subcategories: Speech delay, apraxia and residual errors; and excludes non-developmental speech disorders and speech differences. Rvachew and Brosseau-Lapré follow the Shriberg, Austin, Lewis, McSweeny and Wilson (1997) version of the SDCS. In it, ‘Developmental Phonological Disorder’ refers to children with speech delay (persisting substitution and deletion errors in children under 9) or Developmental Apraxia of Speech (DAS) or Residual Speech Errors. As indicated above, this classification system was updated in Shriberg, Fourakis et al. (2010) and DAS was replaced by SD-AOS (or CAS). Rvachew and Brosseau-Lapré emphasise that ‘a majority across all three subcategories have specific underlying problems with phonological processing’. Rvachew who is ‘profoundly uninterested in any arguments about what to call this particular population of children’ discusses terminology at www.developmentalphonological disorders.wordpress.com in a July 14, 2012 blog post. This scholarly blog is a noteworthy and valuable resource for clinical SLPs/SLTs. Moreover, Rvachew invites instructors to comment and engage with her ‘on the topic of teaching students about phonological (or speech sound) disorders’. Ruscello (2008) achieves simplicity and clarity with Shelton’s (1993) classificatory term ‘sound system disorders’ (SSD), but he does not indicate the percentages of occurrence for his four subtypes. The expression ‘sound system disorders’ denotes, one: children with clinically significant sound production errors of unknown aetiology who have an SSD of unknown origin that includes phonetic (articulatory) production errors or phonemic (phonological) production errors or both (this is the largest category according to Ruscello); two: children with craniofacial anomalies termed ‘oral structure deficits’; three: children with sensory deficits (i.e., hearing loss); and four: children with motor speech disorders whose sound system disorders have known aetiology in the form of a neurological deficit. Interestingly, my colleagues at the University of KwaZulu-Natal in Durban, South Africa, have expanded this particular cover term, calling it Speech Sound System Disorders (SSSD), so making it sound less like something is wrong with your hi-fi. In its policy and clinical guideline documents and practice portal, ASHA uses the rather consumer friendly cover term ‘speech sound disorder’, with the articulation/phonology dichotomy, noting that, ‘Intervention in speech sound disorders addresses articulatory and phonological impairments, associated activity and participation limitations and context barriers and facilitators by optimizing speech discrimination, speech sound production and intelligibility in multiple communication contexts’ (ASHA, 2004b). It is adopted in the title of McLeod, Williams and McCauley (2010) and in the current work. Speech sound disorder is also the preferred term of Bernthal, Bankson and Flipsen, Jr. (2013) and within the influential Phonology Project, at the Waisman Center at the University of Wisconsin-Madison. An interpretation of Shriberg’s (2006) conceptualisation of how ‘speech sound disorder’ evolved from ‘articulation disorder’ is displayed in Table 2.3. Table 2.3 From articulation disorder to childhood SSD: 1920–2005 Speech sound disorder is the term used in the DSM-V (American Psychiatric Association, 2013, pp. 44–45) too, though their description in 315:39 (F80.0) under ‘Neurodevelopmental disorders’ is confusing. Despite extensive collaboration with ASHA staff and members (Paul, 2013; and see www.asha.org/slp/dsm-5), it includes statements such as, ‘verbal dyspraxia is a term also used for speech production problems’ and excludes hearing loss from aetiology (cf. Purdy, Fairgray & Asad, A52 and see Schonweiler, Ptok & Radu, 1998) with no qualifying comment. The DSM-V diagnostic criteria are In the Multilingual children with speech sound disorders: Position paper (International Expert Panel on Multilingual Children’s Speech, 2012; McLeod, Verdon & Bowen, 2013) Speech Sound Disorders is used as an ‘umbrella term for the full range of speech sound difficulties of both known (e.g., Down syndrome, cleft lip and palate) and presently unknown origin.’ Including difficulties with speech perception, phonological representation and prosody in their description, they say that: Children with speech sound disorders can have any combination of difficulties with perception, articulation/motor production, and/or phonological representation of speech segments (consonants and vowels), phonotactics (syllable and word shapes), and prosody (lexical and grammatical tones, rhythm, stress, and intonation) that may impact speech intelligibility and acceptability. The intra- and interprofessional miscommunications that arise from having several approaches to the classification and description of SSD, and the tendency for professionals to mix-n-match them with abandon, spill over into intervention-related terminology and nomenclature. Gierut (1998), for example, talks about four ‘phonological treatments’: traditional sensory-motor articulation therapy, cycles therapy, the Metaphon approach and conventional minimal pair therapy. Summarising the traditional sensory-motor articulation approach, Gierut cites Van Riper and Emerick (1984) and Winitz (1969, 1975), whose work in speech intervention well and truly predated any explicitly motivated phonological intervention, and likely predated the term ‘phonological therapy’. She then provides an account of cycles (Hodson & Paden, 1991), with its traditional and metaphonological flavour (Kamhi, 2006, p. 275), about which Fey (1992) famously remarked, ‘there is nothing inherently phonological about the use of cycles’ (p. 279). At the same time, he added that because the approach aims to encourage gradual system-wide change, it is highly consistent with the goal common to all phonological approaches of facilitating reorganisation of the child’s system. The third account Gierut provides is of conventional minimal pair therapy (Weiner, 1981), the only one on her list of four to meet all of Fey’s (1985, reprinted 1992) exacting criteria for a ‘phonological’ therapy following the three ‘phonological principles’ outlined below. In Weiner’s approach, the therapist works at real-word (meaning) level, confronting children with their own homonymy, providing a semantic motivation to change production, thereby facilitating phonological reorganisation. The fourth ‘phonological treatment’ Gierut outlines is Metaphon (Dean, Howell, Waters & Reid, 1995), in which the SLP/SLT aims to eliminate persisting phonological processes via metalinguistic awareness tasks (Howell & Dean, 1994) involving imagery, minimal contrast activities, feigned listener confusion and guided discussion to promote self-monitoring of output. Like Grunwell (1975) and Ingram (1976), Fey (1992) observed three basic principles underlying what he called phonology-based approaches to treatment such as conventional minimal pairs therapy (Weiner, 1981). Stoel-Gammon and Dunn (1985) reviewed the small (at the time) literature on the relationship between normal and disordered child phonology, finding a general view that, while there were many similarities between normal and disordered speech sound systems, there were also substantial differences between them. Their useful list of the most frequently described characteristics of developmental phonological disorders (as distinct from ‘phonetic’ or ‘articulation’ disorders) included the presence of There is a regrettable tendency among SLPs/SLTs to ‘improve on’ the term phonological disorder, replacing it with: ‘phonological processing disorder’, ‘phonological process disorder’, or ‘phonological processes disorder’. Although they have crept into the vernacular, achieving prominence in the workplace, on the Web, in e-mail discussion, and on professional association websites, none of these three inappropriate terms is an acceptable synonym for either ‘phonological disorder’ or ‘developmental phonological disorder’. Phonological disorder in the area of speech (Grunwell, 1987; Ingram, 1989a), phonological processes in the area of speech (Stampe, 1969), phonological processes in the area of literacy (Scarborough & Brady, 2002) and phonological processing in the area of literacy (Snowling, Bishop & Stothard, 2000) are four different things. Table 2.4 Common phonological processes and their approximate ages of elimination in typical acquisition (Grunwell, 1987) It its first 15 years, my website (Bowen, 1998b) attracted approximately 14 000 emails containing questions and/or requests for advice from among over 1 000 000 unique site visitors from around the world at the rate of between 10 and 20 emails a week. About half of the email came from SLP/SLT professionals and students and the other half from parents, adults with communication disorders and interested members of the general public. A large number of the questions received relate to classification and terminology. For example, the parent of an unintelligible 4 year old asked, ‘Can you please tell me the difference between an articulation disorder and a phonological disorder; how can you tell them apart; and are they treated differently?’ Another wrote, ‘My five year old was diagnosed by one therapist who said he had a phonological disorder, but the therapist who is actually treating him says he has “a phonological processing disorder” and that we need to work on “his artic”. I am so, so confused by this: help!’ And this came from a colleague: ‘Although I have been an ASHA-certified school-based SLP for over 20 years, and most of my caseload is “artic”, I have to say I am confused about the difference between phonetic speech sound disorders, and phonemic speech sound disorders. In simple terms, what exactly is the difference, and can they exist concurrently in the same child?’ Such questions prompted the development of a plain English response on the website, a variation of which is shown in Box 2.1. Predictably, in light of the prevalence of SSD, it is one of the most-retrieved pages there and much used by students, clinical educators, and practitioners, including those preparing talks for consumer groups. Within the overall SSD client population, there are two major sub-groups of children: (1) poorly unintelligible preschoolers with low percentages of consonants correct (PCCs) and multiple errors; and (2) acceptably intelligible school-aged students with high PCCs and ‘residual errors’. In practice, clinicians often reserve the terms ‘articulation disorder’ and ‘functional articulation disorder’ for the reasonably intelligible children of all ages, with one or just a few speech production difficulties, characteristically involving /s/, /z/, /l/ and /.ɹ/ and, in some settings, /θ/ and /ð/ also. A high proportion, but we do not know precisely how high, of the unintelligible pre-schoolers have a phonological impairment entailing linguistic difficulties with organising speech sounds into patterns of sound contrasts. A small proportion (<1% of the paediatric SLP/SLT SSD caseload) has CAS, thought to be due to a deficit in speech motor control (ASHA, 2007; Shriberg, 2004, 2006; Shriberg, Campbell, Karlsson, McSweeney & Nadler, 2003). Each and every SSD can co-occur (e.g., phonetic and phonemic issues in the same child), and each can occur with other communication disorders (e.g., CAS and stuttering in the same child) or with other conditions (e.g., phonological disorder and ADHD in the same child). Speech assessment involves careful, informed observations and hypothesis testing. The process typically begins with the referral followed by a preliminary, informal screening procedure in which the SLP/SLT listens to and watches the child speak. Usually without discussion or collaboration, the SLP/SLT develops, independently, a tentative explanation, or hypothesis, about the nature of any apparent difficulties with a view to conducting further investigations if needed. This initial screening may be as simple as making observations of the child in conversation, either with the therapist or with a parent, sibling or peer, or it may involve a short screening test. Appropriate screening reflects sensitivity to cultural and linguistic diversity (Goldstein, A19). In family-centred practice (Watts Pappas, A30), which is by no means universal, there is collaboration around the nature and conduct of further assessment. The SLP/SLT provides pertinent information, but it is a family’s decision whether to proceed, who should be present in assessment sessions, and so on. A person who is not an SLP/SLT may be called upon to conduct initial screening and it may involve the use of computer software. For example, the 66-picture computerised Phoneme Factory Phonology Screener developed in the United Kingdom is designed for teachers to administer to children whom they suspect have speech sound difficulties, before referring them to SLP/SLT services for assessment. The teacher listens as the student names the pictures, writing down alphabetically or phonetically the child’s production of one particular sound per word. The software has the capability of generating a report, based on what the teacher records, specifying the errors and patterns revealed, with normative comparisons and an indication of whether the child’s speech difficulties are ‘developmental’ or ‘disordered’. Any recommendation to refer to speech therapy is based on this report. The report also guides the teacher to appropriate activities to use in an associated software title in the series, the Phoneme Factory Sound Sorter program. In testing the software, 408 children were assessed on the screener by a teacher–researcher and by an SLT using the phonology subtest of the DEAP (Dodd, Zhu, Crosbie, Holm & Ozanne, 2002). These two measures of the children’s speech were used to determine the screener’s sensitivity (71%), specificity (99%) and positive predictive values (81%). The order of testing was randomised (i.e., sometimes the children were assessed first by the teacher and sometimes first by the SLT) so as to control for order effects. The first author of the Phoneme Factory software packages, Dr. Sue Roulstone, is Emeritus Professor of Speech and Language Therapy, University of the West of England, Bristol and a co-director of the Bristol Speech & Language Therapy Research Unit. She is a Fellow of the Royal College of Speech & Language Therapists and was Chair from 2004 to 2006. She received an Honorary Doctor of Health degree from Manchester Metropolitan University in 2013. Her research interests include evaluation of SLT service delivery, child and family perspectives on speech and language impairment, epidemiology of speech and language impairment and professional judgement and decision-making, and her response to Q8 reflects these interrelated topics. Child speech assessments for the purpose of diagnosis are prompted by: (1) referral, including referral by a child’s family; (2) a child’s medical, sensory or developmental status, for example, the speech of children with cleft palate is routinely assessed in most of the industrialised world (Golding-Kushner, A17); or (3) failing a speech–language screening (see ASHA, 2004c, for further information). They are conducted by appropriately credentialed SLPs/SLTs, working individually or as members of collaborative teams that may include the child, family and others (Watts Pappas, A30). Speech assessments are administered to children as needed, requested or mandated or where there are indications that individuals have articulation and/or phonology impairments associated with their body structure/function and/or communication activities/participation (McLeod, A1). Depending on the presenting picture, the SLP/SLT typically examines the phonetic, phonological, perceptual, phonotactic, prosodic, speech motor and intelligibility aspects of the child’s speech. In evidence-based practice (E3BP), the particular tests chosen depend on the child’s presentation, the educated preferences and theoretical orientation of the clinician, and client/patient values and wishes. The case history interview and/or a history questionnaire provide helpful information about the child and the family that may assist the therapist to manage the assessment and intervention process sensitively and appropriately. Ideally, information gathering is conducted with an eye to the potential ‘red flags’ for speech impairment (summarised in Box 2.2), including family history (Stein et al., 2011) or the risk and protective factors (Harrison & McLeod, 2010) that alert the clinician to a range of important risk factors and ‘leads’ to pursue. Overby and Caspari (2013) note that SLPs/SLTs are hesitant to diagnose CAS in children younger than 2 years of age because of the paucity of information about early (birth – toddler) characteristics of the disorder, low volubility (little talking (DeThorne, Deater-Deckard, Mahurin-Smith, Coletto & Petrill, 2011)) in children with suspected CAS, and phonological overlap between CAS and other SSDs. Using home videos provided by children’s parents, Overby and Caspari (2013) compared the early sounds made by four children diagnosed with CAS between the ages of 3 and 5 years old to those of two typically developing children. Sounds examined in this study were organized into the following groups: vegetative sounds (burps, hiccoughs, sneezes, gulps, reflexive grunting, etc.); fixed signals (recurring motor sequences such as laughs, cries and moans that do not vary across individuals); protophones (quasivowels that are speech-like but not transcribable); and fully resonant productions that were transcribable (marginal babbling and canonical babbling for variable purposes). Because they were interested in tracking children’s development of perceptually accurate motor productions (an assessment consideration in the identification of CAS), they included fully resonant vowels and speech (meaningful speech or made up words) as fully resonant productions. Emphasising the preliminary nature of this work, the individual variation among children with CAS, the current small sample size and the need to expand their comparison group to infants and toddlers with non-CAS severe SSDs, they found that children later diagnosed with CAS demonstrated, as infants and toddlers, a lack of diversity in place, manner and voicing compared to typically developing children. Children with CAS had a ‘place’ preference for bilabials and alveolars; a ‘manner’ preference for stops and nasals; limited babbling defined by reduced syllable shapes (dominated by vowels and CVs); and consonants that disappeared.
Terminology, classification, description, measurement, assessment and targets
Aetiology
The study of causes or origins.
Alleles
Humans carry two sets of chromosomes, one from each parent. Equivalent genes in the two sets might be different, for example because of single nucleotide polymorphisms. An allele is one of the two (or more) forms of a particular gene.
DNA (deoxyribonucleic acid)
The molecule that encodes genetic information and is capable of self-replication and synthesis of RNA. DNA consists of two long chains of nucleotides twisted into a double helix and joined by hydrogen bonds between the complementary bases adenine and thymine or cytosine and guanine. The sequence of nucleotides determines individual Hereditary characteristics.
Environment
All circumstances surrounding an organism or group of organisms, especially: (a) The combination of external physical conditions that affect and influence the growth, development and survival of organisms. (b) The complex of social and cultural conditions affecting the nature of an individual or community.
Gene
A Hereditary unit consisting of a sequence of DNA that occupies a specific location on a chromosome and determines a particular characteristic in an organism.
Gene expression
The process by which a gene’s coded information is converted into the structures present and operating in the cell.
Genome
The complete DNA sequence of an organism.
Genotype
The genotype is the genetic makeup, rather than the physical appearance (Phenotype), of an organism or group of organisms. It involves the combination of Alleles located on Homologous Chromosomes determining a specific characteristic or trait.
Hereditary
(a) Transmitted or capable of being transmitted genetically from parent to offspring. (b) Appearing in or characteristic of successive generations. (c) Of or relating to heredity or inheritance.
Homologous chromosomes
A pair of chromosomes containing the same linear gene sequences each derived from one parent.
Incidence
The number of new cases of a disorder or disease during a given time interval, usually per annum, expressed as Incidence Proportion (Risk) or as Incidence Rate.
Incidence proportion
The number of new cases divided by the size of the population at risk. For example, if a stable population contains 1000 pre-schoolers and 2 develop a condition over two years of observation, the incidence proportion is 2 cases per 1000 pre-schoolers.
Incidence rate
The number of new cases per unit of person-time at risk. Using the previous example, the incidence rate is 1 case per 1000 person-years, because the incidence proportion (2 per 1000) is divided by the number of years (2). Using person-time rather than just time covers circumstances in which participants exit studies before they are completed.
Inheritance
Locus
Locus (pl. loci): The position on a chromosome of a gene or other chromosome marker; also, the DNA at that position. The use of locus is sometimes restricted to mean regions of DNA that are expressed. See Gene Expression.
Monogenic disorder
A disorder caused by a mutant allele of a single gene.
Oligogenic disorder
A phenotypic trait produced by two or more genes working together.
Phenotype
The phenotype comprises the observable physical or biochemical characteristics (Phenotypic Traits) of an organism, as determined by both genetic makeup (Genotype) and environmental influences. It is the expression of a specific trait, such as stature or blood type, based on genetic and environmental influences.
Polygenic disorder
Genetic disorder resulting from the combined action of alleles of more than one gene (e.g., heart disease, diabetes and some cancers). Although such disorders are inherited, they depend on the simultaneous presence of several alleles; thus the hereditary patterns usually are more complex than those of single-gene disorders.
Prevalence
The total number of cases of a disease or condition in a given population at one time.
RNA (ribonucleic acid)
A polymeric constituent of all living cells and many viruses, comprising a long, usually single-stranded chain of alternating phosphate and ribose units with the bases adenine, guanine, cytosine and uracil bonded to the ribose. The structure and base sequence of RNA are determinants of protein synthesis and Transmission of genetic information.
Symptom
A symptom is a sign or an indication of disorder or disease, especially when experienced by an individual as a change from normal function, sensation or appearance. Symptomatic classifications of SSDs are based on speech characteristics or ‘symptoms’ such as limited phonetic repertoire, or persistence of normal phonological patterns.
Transmission
Genetic transmission is the transfer of genetic information from genes to another generation or from one location in a cell to another location in a cell.
Where does ‘functional’ fit?
Subtypes
Childhood apraxia of speech (CAS)
Inconsistent deviant phonological disorder
(Ozanne, 1995, 2005)
(Dodd, 1995, 2005)
Level of breakdown
Level of breakdown
Children’s speech processing breaks down at the phonetic programme assembly level, with associated phonological planning and motor speech program implementation difficulties
Children’s speech processing difficulties are primarily at the phonological planning level
Spontaneous vs. imitated speech
Spontaneous vs. imitated speech
Spontaneous speech is closer to their intended target than imitated speech
Imitated speech is closer to their intended target than spontaneous speech
Phonological awareness (PA) skills
PA skills
Children tend to have intact PA skills
Children are likely to have an associated deficit in PA
Oromotor or feeding difficulties
Oromotor or feeding difficulties
Children often have oromotor or feeding difficulties
Children do not often have oromotor or feeding difficulties
Clarity and precision
Clarity and precision
Children have an overall lack of clarity and precision
Children are likely to be more precise
Suprasegmental characteristics
Suprasegmental characteristics
Children’s voice, prosody and fluency may be affected
Children’s voice, prosody and fluency are usually intact
Clinicians’ use of classification terms
‘Articulation disorder’ as a cover term
‘Phonological disorder’ as a cover term
‘Sound system disorders’ as a cover term
‘Speech sound disorder’ as a cover term
→
Articulation One cover term
Two cover terms
No preferred cover term
Overlapping cover terms
One cover term
One cover term
Speech One cover term
‘Articulation disorder’ covered the UK term ‘dyslalia’ and later ‘functional articulation/ speech disorder’ in the United States
Children had an articulation or a phonological difficulty. Phonology impacted error description and assessment, but intervention was ‘articulatory’
Articulation disorder and phonological disorder were used confusingly and almost synonymously in the literature and by clinicians
Children had a phonological difficulty or an articulation difficulty, with the emphasis on phonology, and frequently observed overlap between the two
‘Phonological disorder’ incorporated delayed or disordered phonology, with phonetic and phonemic levels and mapping rules
‘Phonological disorder’ now incorporated PA and phonological memory acknowledging the speech–literacy link
SSD was preferred in the literature, but clinicians still referred to children’s articulation or phonology difficulties
Articulation
Articulation and phonology
Articulation or phonology
Articulation–phonology
Phonology
Phonology
Speech sound disorders
1920–1970
1971–1980
1981–1990
1991–2004
2005–
Terms related to intervention
Three phonological principles
The first principle concerned the modification of groups of sounds attacked according to an organising feature or systematic rule (of the child’s), rather than focusing on the ‘correction’ of individual phonemes. Targeting groups of sounds indicates acknowledgement of the systematic nature of phonology and the prospect of promoting generalisation of new learning across the child’s speech sound system. The speech production errors that the systemic rules represented fell into two main categories: substitution errors (also called systemic errors) where one sound or sound class is substituted for another (as in stopping, fronting, gliding, backing and assimilation); and structural errors, where the structure of the syllable or word changes (as in cluster reduction, diminutisation, schwa insertion or epenthesis, final consonant deletion, initial consonant deletion and weak syllable deletion). For example, if a child who was ‘stopping’ treated all fricatives as voiced stops, producing, systematically, fun as /bʌn/, sum as /dʌm/ and shoe as /du/, and so on, the therapist would target fricatives as a sound class, or frication as a feature, rather than treating, say, /f/ then /s/, then /ʃ/, and so on, position by position in word-initial, within-word and word-final contexts. Similarly, if a child’s speech were characterised by prevalent final consonant deletion, with many open syllables and productions like /kɒ/ for cough, /bʌ/ for bus, /pϵ/ for pet and /ϵ/ for edge, the therapist would encourage final consonant inclusion across his or her system, in preference to treating word-final /t/, /f/, /s/ and /dʒ/ individually and serially as word-final singleton omissions.
The second principle was around establishing feature contrasts as opposed to perfecting articulatory execution sound by sound and word position by word position. Phonetic placement techniques, such as hunting (Van Riper & Irwin, 1958), the ‘trail blazing’ (sic) progressive approximations method (Van Riper, 1963), the successive approximation procedure (Kaufman 2005; McCurry & Irwin, 1953), and shaping (Bernthal & Bankson, 2004; Shriberg, 1975) are all goal attack strategies used as intermediary steps towards adult-like phonetic execution of a therapy target. In the process of fostering such articulatory precision, clinicians may verbally encourage children to produce ‘a good crisp /s/’, ‘a clear /tʃ/’, ‘a perfect /k/’, ‘a sharp /t/’, ‘a beautiful /ŋ/’, or ‘a lovely /l/’. But in phonological therapy, the child is rewarded for creating contrast by using a sound in the target sound class, or a reasonable approximation of the target. For instance, with a child working at the systemic (substitution process) level to eliminate stopping of fricatives, a production like /ʃʌn/ for sun rather than /dʌn/ for sun would be rewarded, because /ʃ/ and /s/ are in the same (fricative) sound class, and both are voiceless. With a child working at the structural level, trying to learn final consonant inclusion, a production such as /biːm/ for bean rather than /biː/ for bean would be rewarded, because a final consonant was included, and furthermore the /m/ is a nasal consonant (like /n/). The clinician’s acceptance of phonemic contrast and the lack of emphasis on fine tuning of phonetic form, particularly in the early stages of therapy, can be difficult to explain or ‘sell’ to parents and caregivers (and even some SLPs/SLTs), especially if they are anxious and eager to see progress. Their expectation of a clinician’s role may be that we are ‘supposed to be’ encouraging perfection, and they can find it hard to understand that, if a goal in therapy is to eliminate stopping of fricatives, then /fɪp/ for ship is ‘more correct’ than /dɪp/ for ship and /sɪp/ for ship is even better!
The third principle had to do with the goal of making meaning, with the implication that the therapy itself must perforce be constructed around listening to, discriminating between, decoding and saying ‘real’ words. Indeed, it is a truism that phonological therapy must be at word level or above (i.e., word, phrase, sentence or conversational level) in order to signal to the child that the purpose of having a system of sound contrasts, or a phonological system, is to communicate (or to make meaning). The child discovers that homophony must be avoided and appropriate contrast established. If come, crumb, drum, gum, plum, some and thumb are all collapsed and realised homonymously as [dʌm], they come to appreciate that something (phonological) has to change.
Characteristics of phonological disorder
Misuse of terms
Four easily confused ‘phonological terms’
Phonological disorder, also known as developmental phonological disorder, is an SSD at the cognitive–linguistic level, manifested in (surface) speech error patterns. In clinical settings, it is unusual to hear phonological disorder called ‘phonological speech disorder’ (Gillon, 1998) or ‘expressive phonology disorder’ (Bird, Bishop & Freeman, 1995). We obviously do not need more terms, but if we did, these would be good, explanatory ones to use because they help to distinguish (a) phonological impairment in terms of speech error patterns, from (b) phonological impairment in terms of literacy, specifically in relation to Phonological Awareness and phonological processing (Gillon, 2004, pp. 89–90).
Stampe’s (1969) natural phonology theory introduced the concept of phonological processes. A phonological process was a descriptive rule or statement (not a ‘process’ in the sense of a series of actions or steps taken in order to achieve a particular end) that accounted for structural or segmental speech errors of substitution, omission or addition. As explained in Chapter 1, Natural Phonology theory stressed the importance of natural phonological processes as a set of universal, obligatory rules governing a particular phonology. These innate processes represented the constraints a child modifies or suppresses in order to learn more advanced forms in the process of mastering spoken language. The constraints, according to Stampe, disallowed the production of all but the simplest pronunciation patterns in the early stages of phonological development. ‘Advanced forms’ really implied the correct ‘adult’ realisation of the sound.
Recall from Chapter 1 that Stampe saw the processes as being universal, innate and psychologically real, operating to constrain and restrict the speech mechanism, and that he believed children actively ‘used’ processes for the phonological act of simplifying pronunciation via a ‘reflex mechanism’. In this sense, because he considered the processes to be real ‘mental operations’, Stampe believed that the processes provided an explanation of children’s speech sound errors.
Stampe’s legacy includes a range of useful descriptors for the speech characteristics of typically developing children and children with SSD, such as ‘stopping of fricatives’, ‘velar fronting’, ‘deaffrication’, and ‘cluster reduction’, that are widely utilised by SLPs/SLTs. But descriptions they are, and explanations they are not. Table 2.4 displays a selection of the common phonological processes (or phonological deviations or phonological rules or phonological patterns in some literature) that can be used to describe error patterns in phonologies that are developing normally, phonologies that are delayed and phonologies that are disordered. The cut-off ages for the elimination of the deviations displayed in the table in simplified form to share with families are those suggested by Grunwell (1987). For Grunwell, the term ‘deviation’ implied that the child’s production deviated from the adult target production.
Scarborough and Brady (2002) provide an essential glossary (for the literacy enthusiast or phonology tragic) of what they call the ‘phon words’, carefully distinguishing between the many phonological concepts and terms that are found in contemporary literacy theory, research, practice and pedagogy. In such contexts, ‘phonological processing’ is used collectively to refer to the phonological information-using abilities and codes (or ‘phonological processes’) that are fundamental to learning to read and write. These are ‘abilities’, or ‘mental operations’, that cannot be directly measured. They include phonological representations (Sosa & Stoel-Gammon, 2010), phonological memory, phonological knowledge, phonological awareness, and phonological naming.
Scarborough and Brady define phonological processing as: ‘The formation, retention, and/or use of phonological codes or speech while performing some cognitive or linguistic task or operation such as speaking, listening, remembering, learning, naming, thinking, reading, or writing’ (p. 318). They note that these phonological processes do not require conscious awareness, asserting that PA is sometimes treated as a separate category because it deals with tasks and constructs that do require conscious reflection on the phonological structure of words (Hesketh, A28; Neilson, A22).
Scarborough and Brady believe the term ‘phonological processing’ in literacy contexts obscures important distinctions between constructs (underlying mental operations that cannot be directly observed or measured) and tasks (that can be directly observed or measured), and between ‘the various tasks themselves, with regard to their requirements for other sorts of processing’.
Phonological process (phonological deviation)
Adult target vs. child’s realisations
Adult
Child
Description
Approximate age of elimination
Context sensitive voicing
PIG: pɪɡ
KISS: kɪs
bɪɡ
ɡɪs
A voiceless sound is replaced by a voiced sound. In these examples, /p/ is replaced by /b/, and /k/ is replaced by /ɡ/. Other examples might include /t/ being replaced by /d/, or /f/ being replaced by /v/
3;0
Word-final devoicing
RED: ɹϵd
BAG: bæɡ
ɹϵt
bæk
A final voiced consonant in a word is replaced by a voiceless consonant. Here, /d/ has been replaced by /t/, and /ɡ/ has been replaced by /k/
3;0
Final consonant deletion
HOME: houm
ROUGH: rʌf
hou
ɹʌ
The final consonant in the word is omitted. In these examples, /m/ is omitted (or deleted) from ‘home’ and /f/ is omitted from ‘rough’
3;3
Velar fronting
KISS: kɪs
GIVE: ɡɪv
WING: wɪŋ
tɪs
dɪv
wɪn
A velar stop or nasal is replaced by an alveolar stop or nasal respectively. Here, /k/ in ‘kiss’ is replaced by /t/, /ɡ/ in ‘give’ is replaced by /d/ and /ŋ/ in ‘wing’ is replaced by /n/
3;6
Palatal fronting
SHIP: ʃɪp
TAJ: tɑʒ
sɪp
tɑʒ
The palato-alveolar fricatives /ʃ/ and /ʒ/ are replaced by alveolar fricatives /s/ and /z/
3;9
Consonant harmony
CUPBOARD: kʌbəd
DOG: dɒɡ
pʌbəd
ɡɒɡ
Pronunciation of the whole word is influenced by the presence of a particular sound in the word. Here, /b/ in ‘cupboard’ causes the /k/ to be replaced /p/, which is the voiceless cognate of /b/, and /ɡ/ in ‘dog’ causes /d/ to be replaced by /ɡ/
4;0
Weak syllable deletion
AGAIN: əɡϵn
TIDYING: taɪdiɪŋ
ɡϵn
taɪɪŋ
Syllables are either stressed or unstressed. Here the weak syllables in ‘again’ and ‘tidying’ are omitted
4;0
Cluster reduction
BLUE: blu
ANT: ænt
bu
æt
Consonant clusters occur when two or three consonants occur in a sequence in a word. In cluster reduction part of the cluster is omitted. Here, /l/ has been deleted from ‘blue’ and /n/ from ‘ant’
4;0
Gliding of liquids
REAL: ɹiəl
LEG: lϵɡ
wiəl
jϵɡ
The liquid consonants /l/ and /.ɹ/ are replaced by the glides /w/ or /j/. In these examples, /.ɹ/ in ‘real’ is replaced by /w/, and /l/ in ‘leg’ is replaced by /j/
5;0
Stopping
FUNNY: fʌni
JUMP: dʒʌmp
pʌni
dʌmp
A fricative consonant or an affricate consonant is replaced by a stop. Here, /f/ in ‘funny’ is replaced by /p/, and /dʒ/ in ‘jump’ is replaced by /d/
See below
Approximate ages of elimination for stopping of fricatives and affricates
/f/, /s/
FUNNY: fʌni→pʌni SIP: sɪp→ tɪp
3;0
/v/, /z/
VAN: væn → bæn ZOO: zu → du
3;6
/ʃ/, /dʒ/, /tʃ/
SHIP ʃɪp → dɪp JUMP: dʒʌmp → dʌmp CHIP: tʃɪp → tɪp
4;6
/θ/, /ð/
THING: θɪŋ → tɪŋ THEM: ðm → dϵm
5;0
Web questions
Two major sub-groups
Speech assessment: Screening
Diagnostic evaluation
The case history interview and ‘red flags’
Video observations of early characteristics of CAS