Apraxia of speech (AOS) is a motor speech disorder that poses significant obstacles to a person's ability to communicate and take part in everyday life. Agreement exists between current theories of AOS that the impairment affects the speech motor planning stage, where linguistic representations are transformed into speech movements, but they disagree on the specific nature of the breakdown at this processing level. A more detailed understanding of this impairment is essential for developing targeted, effective treatment approaches and for identifying the appropriate candidates for these treatments. The study of AOS is complicated by the fact that this disorder rarely occurs in isolation but is commonly accompanied by various degrees of aphasia (a language impairment) and/or dysarthria (a neuromuscular impairment of speech motor control). In addition, the behavioral similarities of AOS and its closest clinical neighbor, aphasia with phonemic paraphasias, undermine the usefulness of traditional methods, such as perceptual error analysis, in the study of both disorders. The purpose of this dissertation was to test three competing hypotheses about the specific nature of the speech motor planning impairment in AOS in a systematic sequence of three reaction time experiments. This research was formulated in the context of a well-established theoretical framework of speech production and it combines psycholinguistic reaction time paradigms with a cognitive neuropsychological approach. The results of the three experiments provide evidence that one component of the speech motor planning impairment in AOS involves difficulty with selecting the intended motor program for articulation. Furthermore, this difficulty appears to be intensified by simultaneously activated alternative speech motor programs that compete with the target program for selection. These findings may prove useful as a theoretically-motivated basis for improving diagnostic tools and treatment protocols for people with AOS and aphasia, thus enhancing clinical decision-making. Such translational and clinical research aimed at developing sensitive and specific diagnostic tools and improving treatment approaches is the ultimate long-term objective of this research program.

Children with childhood apraxia of speech (CAS) are likely to experience severe and persistent spoken and written language disorder. There is a scarcity of intervention research, however, investigating techniques to improve the speech and literacy outcomes of this population. The series of 5 experiments reported in this thesis investigated phonological awareness and early reading development in children with CAS and trialled a new intervention designed to advance the spoken and written language development of those affected. In the first experiment (presented in Chapter 2), a comparison of 12 children with CAS, 12 children with inconsistent speech disorder (ISD), and 12 children with typical speech-language development (TD) revealed that children with CAS may be particularly susceptible to phonological awareness and reading deficits. There was no difference in the articulatory consistency and speech severity of the CAS and ISD groups, and no difference in the receptive vocabulary of the CAS, ISD, and TD groups. The children with CAS exhibited poorer phonological awareness scores than the comparison groups and had a greater percentage of participants performing below the expected range for their age on letter knowledge, real word decoding, and phonological awareness normative measures. The children with CAS and ISD performed inferiorly than the children with TD on a receptive phonological representation task. The results showed that the children with CAS had a representational component to their disorder that needed to be addressed in intervention. In the second experiment (presented in Chapter 3), a follow-up pilot study was conducted to examine the long-term effects of a previously conducted intensive integrated phonological awareness programme (7 hours of intervention over 3 weeks) on 2 children with CAS. The children aged 7;3 and 8;3 at follow-up assessment had previously responded positively to the intervention. Results showed that the children were able to maintain their high accuracy in targeted speech repeated measures over the follow-up period. One child was also able to maintain her high accuracy in phonological awareness repeated measures. The children performed superiorly on a standardised phonological awareness measure at follow-up than at pre-intervention. Non-word reading ability showed a sharp increase during the intervention period, while minimal gains were made in this measure over the follow-up period. The findings suggested that an integrated intervention was a potential therapeutic approach for children with CAS. In the third experiment (presented in Chapter 4), the effectiveness of an integrated phonological awareness programme was evaluated for the 12 children (identified in the first experiment) aged 4 to 7 years with CAS. A controlled multiple single-subject design with repeated measures was employed to analyse change in trained and untrained speech and phoneme segmentation targets. A comparative group design was used to evaluate the phonological awareness, reading, and spelling development of the children with CAS compared to their peers with TD over the intervention. The children participated in two 6- week intervention blocks (2-sessions per week) separated by a 6-week withdrawal block. Seven children with CAS made significant gains in their production of trained and untrained speech words with 7 of these children demonstrating transfer of skills to connected speech for at least one target. Ten children showed significant gains in phoneme awareness, and 8 of these children demonstrated transfer of skills to novel phoneme awareness tasks. As a group, the children with CAS demonstrated accelerated development over the intervention period in letter knowledge, phonological awareness, word decoding, and spelling ability compared to their peers with typical development. In the fourth experiment (presented in Chapter 5), the speech, phonological awareness, reading, and spelling skills of children with CAS and TD were re-evaluated 6- months following completion of the intervention programme. A measure of reading accuracy and reading comprehension in a text reading task was administered to the children with CAS. There was no difference in the performance of the children with CAS in post-intervention and follow-up assessments. The children with CAS and children with TD presented with similar relative change in phonological awareness, reading, and decoding measures over the follow-up period. The connected reading performance of children with CAS mirrored their phonological awareness and decoding skills. The findings demonstrated that children with CAS were able to maintain gains achieved during the intervention but may need further support to promote sustained development in written language. In the fifth experiment (presented in Chapter 6), the long-term effects of the integrated phonological awareness programme for identical twin boys who participated in the research intervention at pre-school were examined. The study examined Theo and Jamie's spoken language, phonological awareness, reading, and spelling development during their first year of schooling. The results pointed to the benefit of providing phonological awareness within a preventative framework for children with CAS. Theo and Jamie experienced continued growth in speech and phonological awareness skills. They exhibited age-appropriate reading and spelling development during their first year of formal literacy instruction. It was concluded from this series of experiments that children with CAS are particularly vulnerable to phonological awareness and early reading difficulty, and that an integrated phonological awareness intervention is an effective means of developing speech, phonological awareness, reading, and spelling skills in most children with CAS. The intervention appears to target processes underlying spoken and written language development in this population. The results are discussed within a phonological representation deficit hypothesis of CAS and clinical implications of the findings are highlighted.

No description available.

This report investigates the efficacy of using constraint-induced language therapy (CILT) for treating acquired apraxia of speech (AOS). CILT is a treatment method used with individuals with aphasia in which communication is restricted to verbal output in order to isolate the damaged language areas of the brain and reactivate impaired neural connections (Pulvermuller et al., 2001). CILT employs repetitive, massed practiced stimuli and structured shaping of expressive output within the confines of verbal expression (Pulvermuller et al., 2001). Kirmess and Maher (2010) indirectly discovered that two patients with aphasia and apraxia of speech made gains in both language output and articulatory accuracy after receiving intensive CILT, suggesting possible efficacy for the use of CILT with patients with AOS. / text

Apraxia of speech (AOS) is a neurogenic speech disorder that is characterised by deficits in the articulatory and prosodic domains of speech production. A range of physiologic assessment techniques have been employed in an attempt to elucidate the physiological underpinnings of articulatory and prosodic defects in AOS. However, despite the advancement of electromagnetic articulography (EMA), a technique that facilitates safe, non-invasive assessment of intra-oral structures, little research has investigated lingual kinematics during speech production in participants with AOS. Tongue-to-palate contact patterns, on the contrary, have been investigated in AOS. However, most of this research relied upon descriptive analysis, rather than instrumental techniques including electropalatography (EPG). Therefore, the present thesis aimed to utilise EMA and EPG to provide a comprehensive assessment of lingual movement and tongue-to-palate contact patterns during word-initial consonant singletons and consonant clusters, during mono- and multisyllabic words, in AOS. The strength of coupling between the tongue and jaw and tongue-tip and tongue-back was also examined, as was consonant cluster coarticulation. Five participants (three females and two males) with AOS and a concomitant non-fluent aphasia participated in the project. The mean age of the group at the time of the EMA assessment was 53.6 years (SD = 12.60; range 35 - 67 years). At the time of initial assessment, all participants were a minimum of 12 months post onset of stroke (M = 1.67 years; SD = 0.72). Perceptual analysis indicated that each of the five participants with AOS presented with the following mandatory characteristics: sound distortions, sound prolongations, syllabic speech output, and dysprosody. A control group of 12 neurologically unimpaired participants (8 male, 4 female; M = 52.08 years; SD = 12.52; age range = 29 - 70 years) also participated in the study. The apraxic speakers’ tongue-tip and tongue-back movements were initially profiled during monosyllabic word production using EMA. Movement duration, distance, maximum velocity, maximum acceleration and deceleration, and velocity profile index values were recorded during word-initial consonant singletons (i.e., /t, s, l, k/) and consonant clusters (i.e., /kl, sk/). Results indicated that the participants with AOS evidenced significantly prolonged movement durations and, in some instances, significantly greater articulatory distances, relative to the control group. All measures pertaining to speed appeared to be relatively unimpaired. Phonetic complexity had a variable impact on the articulation of word-initial consonants. The results were able to account for the overall slow rate of speech exhibited by the participants with AOS. In a subsequent study, EMA was employed to investigate the impact of increasing word length on lingual kinematics for five participants with AOS. Target consonant singletons and consonant clusters were embedded in the word-initial position of one, two, and three syllable words (e.g., tar, target, targeting). Movement duration appeared to be most sensitive to the effect of word length during consonant singleton production. However, word length effects were absent during consonant cluster production. The data were discussed in the context of motor theories of speech production. The final EMA investigation examined the strength of coupling between the tongue and jaw and tongue-tip and tongue-back during /ta, sa, la, ka/ syllable repetitions, in a group of five participants with AOS. In comparison to the control group, four participants with AOS exhibited significantly stronger articulatory coupling for alveolar and/or velar targets, indicative of decreased functional movement independence. The reduction in functional movement independence was thought to reflect an attempt to simplify articulatory control, or alternatively, a decrease in the ability to differentially control distinct articulatory regions. To complement the EMA data, EPG was employed to investigate the spatial characteristics of linguopalatal contact during word-initial consonant singletons (i.e., /t, s, l, k/) and consonant clusters (i.e., /kl, sk/) in three participants with AOS. Through the use of quantitative and qualitative analysis techniques, misdirected articulatory gestures (e.g., double articulation patterns), distorted linguopalatal contact patterns (alveolar fricatives), lingual overshoot, and for one participant, significantly greater spatial variability were identified in the linguopalatal contact data. Pattern of closure appeared to be relatively unimpaired during alveolar plosive and approximant productions, and lingual undershoot and true omission errors were absent. The results were discussed in relation to their impact on phonetic distortion. A subsequent EPG study examined the temporal and spatial aspects of consonant cluster coarticulation in three participants with AOS. Target stimuli included ‘scar’ and ‘class’. In contrast to what was expected, each of the participants with AOS appeared able to coproduce elements within a consonant cluster. Appropriately, pattern of linguopalatal contact did not appear to be influenced by coproduction. Amount of linguopalatal contact did differ significantly on occasion. Coarticulatory effects were appropriately absent for each of the participants with AOS during alveolar fricative production in ‘scar’; however, the control group and each of the apraxic speakers exhibited place of articulation assimilation during velar stop production. The control group and two participants with AOS produced discrete velar and alveolar articulations during ‘class’; one participant with AOS evidenced coarticulatory effects during the /kl/ cluster. The research findings indicated that consonant cluster coarticulation was generally maintained in word-onset position, and it was postulated that future research should endeavour to investigate consonant cluster coarticulation in consonant sequences that span a syllable boundary. The EMA and EPG research findings presented in this thesis inform about the underlying physiological nature of articulatory disturbances in AOS. These findings will be discussed in the context of contemporary theories of speech motor control.

Children with childhood apraxia of speech (CAS) are likely to experience severe and persistent spoken and written language disorder. There is a scarcity of intervention research, however, investigating techniques to improve the speech and literacy outcomes of this population. The series of 5 experiments reported in this thesis investigated phonological awareness and early reading development in children with CAS and trialled a new intervention designed to advance the spoken and written language development of those affected. In the first experiment (presented in Chapter 2), a comparison of 12 children with CAS, 12 children with inconsistent speech disorder (ISD), and 12 children with typical speech-language development (TD) revealed that children with CAS may be particularly susceptible to phonological awareness and reading deficits. There was no difference in the articulatory consistency and speech severity of the CAS and ISD groups, and no difference in the receptive vocabulary of the CAS, ISD, and TD groups. The children with CAS exhibited poorer phonological awareness scores than the comparison groups and had a greater percentage of participants performing below the expected range for their age on letter knowledge, real word decoding, and phonological awareness normative measures. The children with CAS and ISD performed inferiorly than the children with TD on a receptive phonological representation task. The results showed that the children with CAS had a representational component to their disorder that needed to be addressed in intervention. In the second experiment (presented in Chapter 3), a follow-up pilot study was conducted to examine the long-term effects of a previously conducted intensive integrated phonological awareness programme (7 hours of intervention over 3 weeks) on 2 children with CAS. The children aged 7;3 and 8;3 at follow-up assessment had previously responded positively to the intervention. Results showed that the children were able to maintain their high accuracy in targeted speech repeated measures over the follow-up period. One child was also able to maintain her high accuracy in phonological awareness repeated measures. The children performed superiorly on a standardised phonological awareness measure at follow-up than at pre-intervention. Non-word reading ability showed a sharp increase during the intervention period, while minimal gains were made in this measure over the follow-up period. The findings suggested that an integrated intervention was a potential therapeutic approach for children with CAS. In the third experiment (presented in Chapter 4), the effectiveness of an integrated phonological awareness programme was evaluated for the 12 children (identified in the first experiment) aged 4 to 7 years with CAS. A controlled multiple single-subject design with repeated measures was employed to analyse change in trained and untrained speech and phoneme segmentation targets. A comparative group design was used to evaluate the phonological awareness, reading, and spelling development of the children with CAS compared to their peers with TD over the intervention. The children participated in two 6- week intervention blocks (2-sessions per week) separated by a 6-week withdrawal block. Seven children with CAS made significant gains in their production of trained and untrained speech words with 7 of these children demonstrating transfer of skills to connected speech for at least one target. Ten children showed significant gains in phoneme awareness, and 8 of these children demonstrated transfer of skills to novel phoneme awareness tasks. As a group, the children with CAS demonstrated accelerated development over the intervention period in letter knowledge, phonological awareness, word decoding, and spelling ability compared to their peers with typical development. In the fourth experiment (presented in Chapter 5), the speech, phonological awareness, reading, and spelling skills of children with CAS and TD were re-evaluated 6- months following completion of the intervention programme. A measure of reading accuracy and reading comprehension in a text reading task was administered to the children with CAS. There was no difference in the performance of the children with CAS in post-intervention and follow-up assessments. The children with CAS and children with TD presented with similar relative change in phonological awareness, reading, and decoding measures over the follow-up period. The connected reading performance of children with CAS mirrored their phonological awareness and decoding skills. The findings demonstrated that children with CAS were able to maintain gains achieved during the intervention but may need further support to promote sustained development in written language. In the fifth experiment (presented in Chapter 6), the long-term effects of the integrated phonological awareness programme for identical twin boys who participated in the research intervention at pre-school were examined. The study examined Theo and Jamie's spoken language, phonological awareness, reading, and spelling development during their first year of schooling. The results pointed to the benefit of providing phonological awareness within a preventative framework for children with CAS. Theo and Jamie experienced continued growth in speech and phonological awareness skills. They exhibited age-appropriate reading and spelling development during their first year of formal literacy instruction. It was concluded from this series of experiments that children with CAS are particularly vulnerable to phonological awareness and early reading difficulty, and that an integrated phonological awareness intervention is an effective means of developing speech, phonological awareness, reading, and spelling skills in most children with CAS. The intervention appears to target processes underlying spoken and written language development in this population. The results are discussed within a phonological representation deficit hypothesis of CAS and clinical implications of the findings are highlighted.

FAS is a speech disorder characterized by changes to the normal speech patterns of the native language. This speech impairment is usually due to stroke or brain injury. Segmental, suprasegmental and prosodic features are altered. FAS speakers’ speech is perceived as foreign rather than disordered. It may be because the speech remains highly accurate and the impairments are generally within the permissible boundaries of the phonological and phonetic variants of the language. In terms of perceptual impression, FAS patients’ speech is placed between speakers with a really foreign accent and the native speaker. Some researchers propose that the impression of foreignness in FAS speakers’ accent may be caused by the listeners misinterpretation of speech markers. Lesions leading to FAS are still not completely understood; some hypothesize that the lesion is small or even down to the size of a single gyrus. New evidence suggests that FAS may be a disorder of the articulate velocity and position maps. The syndrome can be life changing to those affected. Patients report that they are no longer able to recognize themselves speaking a new accent. A whole new persona is born when the accent emerges. This paper presents a review of the syndrome’s features, including its neuropsychological/neuroanatomic aspects, its relationship with AoS and dysarthria, and the syndrome’s psychological implications.

PURPOSE: The purpose of this qualitative descriptive study was to explore the experiences of emerging adults with idiopathic CAS, as they reflected on their transitions through childhood, adolescence, and young adulthood. SPECIFIC AIMS: Describe the experiences of emerging adults with idiopathic CAS as they reflect on developmental stages of childhood, adolescence, and young adulthood, including the situational experiences of transition occurring between elementary, middle, high school, and post-secondary education, training, or work. Identify strategies and the effectiveness of the strategies utilized by emerging adults with idiopathic CAS to manage experiences during different developmental stages and situational experiences of transition occurring between elementary, middle, high school, and post-secondary education, training, or work. FRAMEWORK: Meleis’ Transitions Theory. DESIGN: A qualitative descriptive design with purposive sampling was used. Data was analyzed using thematic analysis. RESULTS: Findings support the use of Transitions Theory. Three major themes were identified: The Child’s Environment, Implications of CAS, and Strategies. The school environment contributed to many implications for children. Older children were able to develop strategies to overcome challenges. In the school setting, children did not access nurses for concerns related to their CAS. CONCLUSIONS: CAS creates many challenges for children. Emerging adults with CAS report that environments in which people are knowledgeable, patient, understanding, accepting, and supportive help them express themselves freely despite their speech impairment. The nurse’s role in supporting children with CAS during grade school is untapped as they were largely invisible to the children as a potential resource for anything other than an injury or illness. To better facilitate supportive environments in which children with CAS can flourish, nursing assessment and interventions are needed.

No description available.

Purpose: Determination of genotypic/phenotypic features of GATAD2B-associated neurodevelopmental disorder(GAND). Methods: Fifty GAND subjects were evaluated to determine consistentgenotypic/phenotypic features. Immunoprecipitation assays utilizing in vitrotranscription–translation products were used to evaluate GATAD2B missensevariants’ ability to interact with binding partners within the nucleosomeremodeling and deacetylase (NuRD) complex. Results: Subjects had clinical findings that included macrocephaly,hypotonia, intellectual disability, neonatal feeding issues, polyhydramnios,apraxia of speech, epilepsy, and bicuspid aortic valves. Forty-one novelGATAD2B variants were identified withmultiple variant types (nonsense, truncating frameshift, splice-site variants,deletions, and missense). Seven subjects were identified with missense variantsthat localized within two conserved region domains (CR1 or CR2) of the GATAD2Bprotein. Immunoprecipitation assays revealed several of these missense variantsdisrupted GATAD2B interactions with its NuRD complex binding partners. Conclusions: A consistent GAND phenotype was caused by a range of geneticvariants in GATAD2B that includeloss-of-function and missense subtypes. Missense variants were present inconserved region domains that disrupted assembly of NuRD complex proteins.GAND’s clinical phenotype had substantial clinical overlap with other disordersassociated with the NuRD complex that involve CHD3 and CHD4, with clinicalfeatures of hypotonia, intellectual disability, cardiac defects, childhoodapraxia of speech, and macrocephaly.