Childhood apraxia of speech

PURPOSE: Motor deficits are widely documented among autistic individuals, and speech characteristics consistent with a motor speech disorder have been reported in prior literature. We conducted an auditory-perceptual analysis of speech production skills in low and minimally verbal autistic individuals as a step toward clarifying the nature of speech production impairments in this population and the potential link between oromotor functioning and language development. METHOD: Fifty-four low or minimally verbal autistic individuals aged 4-18 years were video-recorded performing nonspeech oromotor tasks and producing phonemes, syllables, and words in imitation...

PURPOSE: Childhood apraxia of speech (CAS) is a multivariate motor speech disorder that requires a motor-based intervention approach. There is limited treatment research on young children with CAS, reflecting a critical gap in the literature given that features of CAS are often in full expression early in development. Dynamic Temporal and Tactile Cueing (DTTC) is a treatment approach designed for children with severe CAS, yet the use of DTTC with children younger than 3 years of age has not been examined...

Since genetic research entered the post-genomic era, the high heritability of language disorders has been confirmed. A variety of genetic-related diseases may cause various types of language disorders in children and/or adults. This article has summarized language disorders and their underlying mechanisms by searching the Web of Science database over the last decade, and combed the genetic researches for dyslexia, frontotemporal degeneration, specific language disorder, childhood speech apraxia and other single diseases that are strongly associated with the language disorders...

Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.69-24.34 years, with pathogenic and likely pathogenic DDX3X variants (missense, n = 13; nonsense, n = 12; frameshift, n = 7; splice site, n = 3; synonymous, n = 2; deletion, n = 1)...

PURPOSE: The purpose of the present study was to explore the ability of Hebrew-speaking children with childhood apraxia of speech (CAS) to produce lexical stress. METHOD: A total of 36 children aged between 4 and 7 years, 18 children with CAS, and 18 typically developing (TD) children participated in the study. All children completed language and speech assessments. The children imitated 20 weak-strong and strong-weak target words within short sentences and in isolation...

Severe speech disorders lead to poor literacy, reduced academic attainment and negative psychosocial outcomes. As early as the 1950s, the familial nature of speech disorders was recognized, implying a genetic basis; but the molecular genetic basis remained unknown. In 2001, investigation of a large three generational family with severe speech disorder, known as childhood apraxia of speech (CAS), revealed the first causative gene; FOXP2. A long hiatus then followed for CAS candidate genes, but in the past three years, genetic analysis of cohorts ascertained for CAS have revealed over 30 causative genes...

Motor Speech Disorders is an umbrella term for a set of separate dysfunctions of speech outcome associated with neurological disorders. Motor speech disorders (MSD) are classified as Speech Motor delay (SMD), Childhood dysarthria (CD), Childhood Apraxia of Speech (CAS), and Concurrent CD and CAS. The incidence and prevalence of MSD in population is uncertain. A research gap exists, making evidence-based practice questionable as regards intervention for MSD and is an area of research. Hence, current narrative review was conducted to review and highlight treatment of MSD since evidence-based treatment approach may benefit patient even years after a brain lesion...

INTRODUCTION: The population of children with slow emergence of language development varies widely, both in their initial profile and in their response to intervention. In this sense, there is a group of late talkers who continue to show persistent language difficulties, in some cases exhibiting signs compatible with verbal dyspraxia. METHOD: In this paper we present the different response to intervention of two profiles of late talkers. Specifically, the Target Word© program (Hanen Centre) was implemented, which is addressed to latetalking children and their families...

Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype. Speech and language, and health and medical history were assessed in 15 participants (male = 10, median age = 7 years 4 months) with 14 BRPF1 variants...

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)...

BACKGROUND: Developmental Coordination Disorder (DCD) is among the most under-recognized and under-supported disorders worldwide. AIMS: To present a preliminary national study that evaluated the unmet needs of children with DCD in the USA using the Impact for DCD survey. METHODS AND PROCEDURES: 232 parents of individuals aged 5-18 years provided responses from 36 items in five domains (diagnosis, activity/participation, education, therapy, and social/emotional health)...

BACKGROUND: Individuals with childhood apraxia of speech (CAS) were reported to have genetic variations related to gluten sensitivity and some neuroanatomic changes, which could be associated with alterations in neurotransmitters levels such as glutamate and gamma-aminobutyric acid (GABA). The aim was to measure the levels of antigliadin immunoglobulin A (IgA) antibody, glutamate, and GABA in the plasma of children with CAS compared with children with delayed language development (DLD) and neurotypical (NT) children...

PURPOSE: Limited research exists assessing speech perception in school-age children with speech sound disorder (SSD) and childhood apraxia of speech (CAS); despite early evidence that speech perception may lead to error-prone motor planning/programming. In this study, we examine speech perception performance in school-age children with and without speech production deficits. METHOD: Speech perception was assessed using the Wide Range Acoustic Accuracy Scale to determine the just-noticeable difference in discrimination for three consonant-vowel syllable contrasts (/bɑ/-/wɑ/, /dɑ/-/gɑ/, /ɹɑ/-/wɑ/), each varying along a single acoustic parameter for seven children with CAS with rhotic errors, seven children with SSD with rhotic errors, and seven typically developing (TD) children...

PURPOSE: To present the sensitivity and specificity and establish cutoff points (receiver operating characteristic [ROC] curve) for the PraxiFala Battery. METHOD: The sample included 308 Brazilian-speaking children aged 3;0-7;11. Twenty-one children had motor speech disorders (MSD), 58 children had phonological disorder (PD), and 229 had typical speech (TS) development. Participants were administered the PraxiFala Battery, which contains verbal (word and sentence production), nonverbal (orofacial praxis), and diadochokinetic tasks...

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PURPOSE: A Phase I study was conducted to examine the treatment effectiveness of the Kaufman Speech to Language Protocol using a research-operationalised protocol. It was hypothesised that articulatory accuracy would improve as a result of the treatment and that these improvements would be maintained after treatment was discontinued. METHOD: A single case experimental design was used to evaluate the effectiveness of the Kaufman Speech to Language Protocol. Four children with a confirmed childhood apraxia of speech diagnosis were included in this study...

PURPOSE: The study's primary aims were to describe the long-term speech outcomes for adolescents and young adults with a history of childhood apraxia of speech (CAS) and to examine the association of persistent speech sound errors with measures of literacy skills, phonological processing, motor speech production, and parent report of early motor difficulty. METHOD: Data from a large longitudinal 25-year study were used to explore outcomes for 32 individuals with a history of CAS, ages 12;6 (years;months) to 25 years ( M = 17...

Individuals with childhood apraxia of speech often exhibit greater difficulty with expressive language than with receptive language. As a result, they may benefit from alternative modes of communication. Here, we present a patient with childhood apraxia of speech who used pointing as a means of communication at age 2¼ years and self-made gestures at age 3½, when he had severe difficulties speaking in spite of probable normal comprehension abilities. His original gestures included not only word-level expressions, but also sentence-length ones...

PURPOSE: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists' (SLPs') consideration of incorporation of genetics in clinical practice using a theory-informed qualitative approach. METHOD: Semistructured interviews were conducted with 12 pediatric SLPs using a behavior change theory (Theoretical Domains Framework [TDF]) within a case study describing a child with complex co-occurring features, including childhood apraxia of speech...

PURPOSE: The aim of this study was to explore relations between speech sound disorder severity and selective mutism in a group of children with 7q11.23 duplication syndrome (Dup7), a genetic condition predisposing children to childhood apraxia of speech (CAS) and other speech sound disorders and to anxiety disorders, including selective mutism and social anxiety disorder. METHOD: Forty-nine children aged 4-17 years with genetically confirmed Dup7 completed the Goldman-Fristoe Test of Articulation-Second Edition (GFTA-2), the Expressive Vocabulary Test-Second Edition (EVT-2), and the Differential Ability Scales-Second Edition (DAS-II)...