Search Results (11)

Purpose: Childhood apraxia of speech (CAS) is a motor speech disorder characterized by deficits in speech planning and programming. However, current diagnostic frameworks have been developed primarily from studies of English-speaking children, raising questions regarding their applicability to other languages. This study examined the common and diagnostic speech characteristics of Hebrew-speaking children with CAS as perceived by Israeli speech–language pathologists (SLPs). Method: Two hundred Israeli SLPs with experience diagnosing and/or treating children with CAS completed an online questionnaire. Participants rated 26 speech characteristics on 7-point scales reflecting their perceived frequency and diagnostic specificity in Hebrew-speaking children with CAS. Descriptive analyses included mean ratings and the percentage of clinicians endorsing each characteristic. Results: Increased difficulty with multisyllabic words (M = 6.37) and inconsistent errors (M = 6.32) received the highest frequency ratings and were endorsed by 87.0% and 84.0% of clinicians, respectively, as common characteristics of CAS. Inconsistent errors received the highest diagnostic specificity rating (M = 6.12), followed by groping movements (M = 5.73) and difficulty sequencing syllables (M = 5.48). Prosodic features, including lexical stress errors (M = 3.72) and equal stress patterns (M = 3.73), received ratings at or below the midpoint of the scale and were endorsed by fewer than 20% of clinicians as common characteristics of CAS. Breathy voice (M = 3.11) and consistent hypernasality (M = 2.79), two control characteristics not typically associated with CAS, received the lowest ratings. Conclusions: Israeli SLPs identified syllable sequencing difficulties and inconsistency as the most salient and diagnostically informative characteristics of CAS in Hebrew-speaking children. In contrast, prosodic features, particularly lexical stress errors, were perceived as less common and less central to diagnosis than suggested by English-based diagnostic frameworks. These findings suggest that the clinical manifestation of CAS may be influenced by language-specific phonological and prosodic properties and underscore the need for direct investigation of CAS characteristics in Hebrew-speaking children. Full article

Childhood apraxia of speech (CAS) is characterized by atypical timing between segments, leading to prosodic disruption at the lexical level. This study tested whether prosodic impairment in CAS extends to the intonational level by examining declination of fundamental frequency (f0). Eleven children with CAS and ten typically developing (TD) peers aged 5 to 11 years old produced real and nonce multisyllabic words embedded in carrier phrases. Acoustic measures of inter-segment duration (within-word, between-word) and average f0 across segments were extracted. Children with CAS exhibited significantly longer inter-segment durations both within and between words, influenced by lexical stress position (first syllable, second syllable) and word status (real, nonce). They also showed shallower f0 declination slopes than TD peers, indicating reduced overall pitch fall. Segmentation and declination were not significantly correlated, suggesting distinct mechanisms underlying timing and pitch organization. Consistent with prior work, segmentation was greatest for nonce words with non-initial stress. Reduced declination in CAS may reflect limitations in prosodic planning or programming at the intonational level. These findings highlight dissociable disruptions in timing and pitch patterning in CAS, contributing to a more comprehensive understanding of prosodic control in motor speech disorders. Full article

Speech is the most common means of communication in humans. Any defect in accurate speech production ability results in the development of speech sound disorder (SSD), a condition that can significantly impair an individual’s academic performance, social interactions, and relationships with peers and adults. This study investigated the genetic basis of SSD in three Pakistani families. We performed family-based genome-wide parametric linkage analysis and homozygosity mapping in three consanguineous families with SSD from the Punjab province of Pakistan. The Test for Assessment of Articulation and Phonology in Urdu (TAAPU) was used to analyze the speech articulation data and determine the Percentage Correct Consonants (PCC) score. The PCC score defined the affected and unaffected individuals in each family. Parametric linkage analysis revealed a linkage to chromosome 5 (5q21.3-5q23.1) with a significant logarithm of the odds (LOD) score of 3.13 in a Pakistani family with specific language impairment-97 (PKSLI-97) under an autosomal recessive mode of inheritance. The other two families showed a suggestive linkage at 6p22.1, 14q12, and 16q12.1 under the recessive mode of inheritance. Interestingly, homozygosity mapping showed a loss of heterozygosity in the linkage region at 5q15-5q23.1, shared among seven affected (mostly in the younger generation) and one unaffected individual of PKSLI-97. Our analysis identified the 6p22 locus previously implicated in dyslexia, childhood apraxia of speech (CAS), and language impairment, confirming the role of KIAA0319 and DCDC2 in this locus. These findings provide statistical evidence for the genomic regions associated with articulation disorder and offer future opportunities to further the role of genes in speech production. Full article

Childhood apraxia of speech (CAS) represents a significant diagnostic and therapeutic challenge within the field of clinical neuropsychology, characterized by its nuanced presentation and multifactorial nature. The aim of this study was to distil and synthesize the broad spectrum of research into a coherent model for the assessment and diagnosis of CAS. Through a mixed-method design, the quantitative phase analyzed 290 studies, unveiling 10 clusters: developmental apraxia, tabby talk, intellectual disabilities, underlying speech processes, breakpoint localization, speech characteristics, functional characteristics, clinical practice, and treatment outcome. The qualitative phase conducted a thematic analysis on the most cited and recent literature, identifying 10 categories: neurobiological markers, speech motor control, perceptual speech features, auditory processing, prosody and stress patterns, parent- and self-report measures, intervention response, motor learning and generalization, comorbidity analysis, and cultural and linguistic considerations. Integrating these findings, a descriptive and prescriptive model was developed, encapsulating the complexities of CAS and providing a structured approach for clinicians. This model advances the understanding of CAS and supports the development of targeted interventions. This study concludes with a call for evidence-based personalized treatment plans that account for the diverse neurobiological and cultural backgrounds of children with CAS. Its implications for practice include the integration of cutting-edge assessment tools that embrace the heterogeneity of CAS presentations, ensuring that interventions are as unique as the children they aim to support. Full article

Apraxia of speech is a persistent speech motor disorder that affects speech intelligibility. Studies on speech motor disorders with transcranial Direct Current Stimulation (tDCS) have been mostly directed toward examining post-stroke aphasia. Only a few tDCS studies have focused on apraxia of speech or childhood apraxia of speech (CAS), and no study has investigated individuals with CAS and Trisomy 21 (T21, Down syndrome). This N-of-1 randomized trial examined the effects of tDCS combined with a motor learning task in developmental apraxia of speech co-existing with T21 (ReBEC RBR-5435x9). The accuracy of speech sound production of nonsense words (NSWs) during Rapid Syllable Transition Training (ReST) over 10 sessions of anodal tDCS (1.5 mA, 25 cm) over Broca’s area with the cathode over the contralateral region was compared to 10 sessions of sham-tDCS and four control sessions in a 20-year-old male individual with T21 presenting moderate–severe childhood apraxia of speech (CAS). The accuracy for NSW production progressively improved (gain of 40%) under tDCS (sham-tDCS and control sessions showed < 20% gain). A decrease in speech severity from moderate–severe to mild–moderate indicated transfer effects in speech production. Speech accuracy under tDCS was correlated with Wernicke’s area activation (P3 current source density), which in turn was correlated with the activation of the left supramarginal gyrus and the Sylvian parietal–temporal junction. Repetitive bihemispheric tDCS paired with ReST may have facilitated speech sound acquisition in a young adult with T21 and CAS, possibly through activating brain regions required for phonological working memory. Full article

Childhood apraxia of speech (CAS) is a subtype of motor speech disorder usually co-occurring with language impairment. A supramodal processing difficulty, involving executive functions (EFs), might contribute to the cognitive endophenotypes and behavioral manifestations. The present study aimed to profile the EFs in CAS, investigating the relationship between EFs, speech and language severity, and the connectivity of the frontal aslant tract (FAT), a white matter tract involved in both speech and EFs. A total of 30 preschool children with CAS underwent speech, language, and EF assessments and brain MRIs. Their FAT connectivity metrics were compared to those of 30 children without other neurodevelopmental disorders (NoNDs), who also underwent brain MRIs. Alterations in some basic EF components were found. Inhibition and working memory correlated with speech and language severity. Compared to NoND children, a weak, significant reduction in fractional anisotropy (FA) in the left presupplementary motor area (preSMA) FAT component was found. Only speech severity correlated and predicted FA values along with the FAT in both of its components, and visual-spatial working memory moderated the relationship between speech severity and FA in the left SMA. Our study supports the conceptualization of a composite and complex picture of CAS, not limited to the speech core deficit, but also involving high-order cognitive skills. Full article

Childhood apraxia of speech (CAS) is a motor speech disorder often co-occurring with language impairment and complex neurodevelopmental disorders. A cohort of 106 children with CAS associated to other neurodevelopmental disorders underwent a multidimensional investigation of speech and language profiles, chromosome microarray analysis and structural brain magnetic resonance (MR). Our aim was to compare the clinical profiles of children with CAS co-occurring with only language impairment with those who, in addition to language impairment, had other neurodevelopmental disorders. Expressive grammar was impaired in the majority of the sample in the context of similar alterations of speech, typical of the core symptoms of CAS. Moreover, children with complex comorbidities also showed more severe and persistent receptive language deficits. About 25% of the participants harbored copy number variations (CNVs) already described in association to neurodevelopmental disorders. CNVs occurred more frequently in children with complex comorbidities. MR structural/signal alterations were found in a small number of children and were of uncertain pathogenic significance. These results confirm that CAS needs multidimensional diagnostic and clinical management. The high frequency of language impairment has important implications for early care and demands a personalized treatment approach in which speech and language goals are consistently integrated. Full article

Childhood apraxia of speech (CAS) causes inconstant oromotor production. We investigated the clinical efficacy of repeated urimal test of articulation and phonation (U-TAP) in CAS patients. Twenty-eight children were recruited: 19 with CAS and 9 with functional articulation disorder (FAD). Four age-matched typically developing children were also recruited. U-TAP was performed twice repeatedly, and the error rate of consonant accuracy (CA) was measured. Preschool Receptive-Expressive Language Scale (PRES) was also performed. The mean U-TAP CA showed a significant difference between the three groups, with 42.04% for CAS, 77.92% for FAD, and 99.68% for the normal group (p < 0.05). The mean difference between the two U-TAP CAs was 10.01% for CAS, 0.82% for FAD, and no difference for the normal group, revealing a significant intergroup difference between CAS and FAD (p < 0.05). For the expressive and receptive PRES scores, CAS group showed significantly decreased results compared to FAD and normal group. Only in the CAS group, expressive PRES showed significant decrease rather than receptive PRES score. The CAS group showed a significant difference in the two U-TAP CA compared to the FAD and normal groups. This result implies that repeated U-TAP can be useful for supportive diagnostic tool for CAS by detecting poor reliability of phonation. Full article

Childhood apraxia of speech (CAS) commonly affects the production of lexical stress contrast in polysyllabic words. Automated classification tools have the potential to increase reliability and efficiency in measuring lexical stress. Here, factors affecting the accuracy of a custom-built deep neural network (DNN)-based classification tool are evaluated. Sixteen children with typical development (TD) and 26 with CAS produced 50 polysyllabic words. Words with strong–weak (SW, e.g., dinosaur) or WS (e.g., banana) stress were fed to the classification tool, and the accuracy measured (a) against expert judgment, (b) for speaker group, and (c) with/without prior knowledge of phonemic errors in the sample. The influence of segmental features and participant factors on tool accuracy was analysed. Linear mixed modelling showed significant interaction between group and stress type, surviving adjustment for age and CAS severity. For TD, agreement for SW and WS words was >80%, but CAS speech was higher for SW (>80%) than WS (~60%). Prior knowledge of segmental errors conferred no clear advantage. Automatic lexical stress classification shows promise for identifying errors in children’s speech at diagnosis or with treatment-related change, but accuracy for WS words in apraxic speech needs improvement. Further training of algorithms using larger sets of labelled data containing impaired speech and WS words may increase accuracy. Full article

Autism Spectrum Disorder (ASD) and Childhood Apraxia of Speech (CAS) are developmental disorders with distinct diagnostic criteria and different epidemiology. However, a common genetic background as well as overlapping clinical features between ASD and CAS have been recently reported. To date, brain structural language-related abnormalities have been detected in both the conditions, but no study directly compared young children with ASD, CAS and typical development (TD). In the current work, we aim: (i) to test the hypothesis that ASD and CAS display neurostructural differences in comparison with TD through morphometric Magnetic Resonance Imaging (MRI)-based measures (ASD vs. TD and CAS vs. TD); (ii) to investigate early possible disease-specific brain structural patterns in the two clinical groups (ASD vs. CAS); (iii) to evaluate predictive power of machine-learning (ML) techniques in differentiating the three samples (ASD, CAS, TD). We retrospectively analyzed the T1-weighted brain MRI scans of 68 children (age range: 34–74 months) grouped into three cohorts: (1) 26 children with ASD (mean age ± standard deviation: 56 ± 11 months); (2) 24 children with CAS (57 ± 10 months); (3) 18 children with TD (55 ± 13 months). Furthermore, a ML analysis based on a linear-kernel Support Vector Machine (SVM) was performed. All but one brain structures displayed significant higher volumes in both ASD and CAS children than TD peers. Specifically, ASD alterations involved fronto-temporal regions together with basal ganglia and cerebellum, while CAS alterations are more focused and shifted to frontal regions, suggesting a possible speech-related anomalies distribution. Caudate, superior temporal and hippocampus volumes directly distinguished the two conditions in terms of greater values in ASD compared to CAS. The ML analysis identified significant differences in brain features between ASD and TD children, whereas only some trends in the ML classification capability were detected in CAS as compared to TD peers. Similarly, the MRI structural underpinnings of two clinical groups were not significantly different when evaluated with linear-kernel SVM. Our results may represent the first step towards understanding shared and specific neural substrate in ASD and CAS conditions, which subsequently may contribute to early differential diagnosis and tailoring specific early intervention. Full article

Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. Microarray technologies have allowed for the analysis of copy number variations (CNVs) that can contribute to the risk of developing complex diseases. By array comparative genomic hybridization (CGH) screening of 1476 patients, we detected 27 cases with CNVs on chromosome 16. We identified four smallest regions of overlapping (SROs): one at 16p13.11 was found in seven patients; one at 16p12.2 was found in four patients; two close SROs at 16p11.2 were found in twelve patients; finally, six patients were found with atypical rearrangements. Although phenotypic variability was observed, we identified a male bias for Childhood Apraxia of Speech associated to 16p11.2 microdeletions. We also reported an elevated frequency of second-site genomic alterations, supporting the model of the second hit to explain the clinical variability associated with CNV syndromes. Our goal was to contribute to the building of a chromosome 16 disease-map based on disease susceptibility regions. The role of the CNVs of chromosome 16 was increasingly made clear in the determination of developmental delay. We also found that in some cases a second-site CNV could explain the phenotypic heterogeneity by a simple additive effect or a pejorative synergistic effect. Full article