A single case experimental design study using an operationalised version of the Kaufman Speech to Language Protocol for children with childhood apraxia of speech.

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.

Bang for Your Buck: A Single-Case Experimental Design Study of Practice Amount and Distribution in Treatment for Childhood Apraxia of Speech.

Purpose The aim of this study was to examine 2 aspects of treatment intensity in treatment for childhood apraxia of speech (CAS): practice amount and practice distribution. Method Using an alternating-treatments single-subject design with multiple baselines, we compared high versus low amount of practice, and massed versus distributed practice, in 6 children with CAS. Conditions were manipulated in the context of integral stimulation treatment.

Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders.

Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders (CND) can inform research in the biobehavioural origins and treatment of CND. The goal of this research was to use measures and analytics in a diagnostic classification system to estimate the prevalence of speech and motor speech disorders in convenience samples of speakers with one of eight types of CND. Audio-recorded conversational speech samples from 346 participants with one of eight types of CND were obtained from a database of participants recruited for genetic and behavioural studies of speech sound disorders (i.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has now been corrected in both the PDF and HTML versions of the Article.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders.

Treating Childhood Apraxia of Speech With the Kaufman Speech to Language Protocol: A Phase I Pilot Study.

Purpose: A Phase I pilot study was designed to collect preliminary evidence on the use of the Kaufman Speech to Language Protocol (K-SLP; Kaufman, 2014) to treat children with childhood apraxia of speech. We hypothesized that the K-SLP approach would result in more accurate speech production in targeted words, whereas untrained (control) words and speech sounds would remain unchanged.

Method: A single-case multiple-baseline across behaviors experimental design was used to see if experimental feasibility could be demonstrated.

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect.

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker.

Purpose: The purpose of this 2nd article in this supplement is to report validity support findings for the Pause Marker (PM), a proposed single-sign diagnostic marker of childhood apraxia of speech (CAS).

Method: PM scores and additional perceptual and acoustic measures were obtained from 296 participants in cohorts with idiopathic and neurogenetic CAS, adult-onset apraxia of speech and primary progressive apraxia of speech, and idiopathic speech delay.

Results: Adjusted for questionable specificity disagreements with a pediatric Mayo Clinic diagnostic standard, the estimated sensitivity and specificity, respectively, of the PM were 86.

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker.

Purpose: The goal of this article (PM I) is to describe the rationale for and development of the Pause Marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech from speech delay.

Method: The authors describe and prioritize 7 criteria with which to evaluate the research and clinical utility of a diagnostic marker for childhood apraxia of speech, including evaluation of the present proposal. An overview is given of the Speech Disorders Classification System, including extensions completed in the same approximately 3-year period in which the PM was developed.

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: III. Theoretical Coherence of the Pause Marker with Speech Processing Deficits in Childhood Apraxia of Speech.

Purpose: Previous articles in this supplement described rationale for and development of the pause marker (PM), a diagnostic marker of childhood apraxia of speech (CAS), and studies supporting its validity and reliability. The present article assesses the theoretical coherence of the PM with speech processing deficits in CAS.

Method: PM and other scores were obtained for 264 participants in 6 groups: CAS in idiopathic, neurogenetic, and complex neurodevelopmental disorders; adult-onset apraxia of speech (AAS) consequent to stroke and primary progressive apraxia of speech; and idiopathic speech delay.

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: Introduction.

The goal of this article is to introduce the pause marker (PM), a single-sign diagnostic marker proposed to discriminate early or persistent childhood apraxia of speech (CAS) from speech delay.

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: IV. The Pause Marker Index.

Purpose: Three previous articles provided rationale, methods, and several forms of validity support for a diagnostic marker of childhood apraxia of speech (CAS), termed the pause marker (PM). Goals of the present article were to assess the validity and stability of the PM Index (PMI) to scale CAS severity.

Method: PM scores and speech, prosody, and voice precision-stability data were obtained for participants with CAS in idiopathic, neurogenetic, and complex neurodevelopmental disorders; adult-onset apraxia of speech consequent to stroke and primary progressive apraxia; and idiopathic speech delay.

Motor-based intervention protocols in treatment of childhood apraxia of speech (CAS).

This paper reviews current trends in treatment for childhood apraxia of speech (CAS), with a particular emphasis on motor-based intervention protocols. The paper first briefly discusses how CAS fits into the typology of speech sound disorders, followed by a discussion of the potential relevance of principles derived from the motor learning literature for CAS treatment. Next, different motor-based treatment protocols are reviewed, along with their evidence base.

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Background: Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CAS.

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.

We report clinical findings that extend the phenotype of the ~550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree ('KE') in which half of the members have a mutation in FOXP2 that co-segregates with CAS, oromotor apraxia, and low scores on a nonword repetition task.

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Purpose: The goal of this study was to identify new candidate genes and genomic copy-number variations associated with a rare, severe, and persistent speech disorder termed childhood apraxia of speech. Childhood apraxia of speech is the speech disorder segregating with a mutation in FOXP2 in a multigenerational London pedigree widely studied for its role in the development of speech-language in humans.

Methods: A total of 24 participants who were suspected to have childhood apraxia of speech were assessed using a comprehensive protocol that samples speech in challenging contexts.

Encoding, memory, and transcoding deficits in Childhood Apraxia of Speech.

A central question in Childhood Apraxia of Speech (CAS) is whether the core phenotype is limited to transcoding (planning/programming) deficits or if speakers with CAS also have deficits in auditory-perceptual encoding (representational) and/or memory (storage and retrieval of representations) processes. We addressed this and other questions using responses to the Syllable Repetition Task (SRT) [Shriberg, L. D.

Phenotype of FOXP2 haploinsufficiency in a mother and son.

Disruptions in FOXP2, a transcription factor, are the only known monogenic cause of speech and language impairment. We report on clinical findings for two new individuals with a submicroscopic deletion of FOXP2: a boy with severe apraxia of speech and his currently moderately affected mother. A 1.

Breakpoint localization using array-CGH in three siblings with an unbalanced 4q;16q translocation and childhood apraxia of speech (CAS).

We report clinical, cytogenetic, and comparative genomic hybridization findings for three siblings with an unbalanced 4q;16q translocation, minor malformations, and cognitive abnormalities, including childhood apraxia of speech, a rare, severe motor speech disorder. Breakpoint findings indicate that in addition to possible contributions from duplicated genes on chromosome 16, haploinsufficiency of one or more of 11 genes deleted in the telomeric region of the long arm of chromosome 4 is the likely cause of the speech disorder, the associated impairments in cognition and language, and the dysmorphic features. The present findings are the first to document childhood apraxia of speech in a multiplex family using contemporary speech measures.