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Speech Delay

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1. 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 (PubMed)

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 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.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.Participants with CAS and AAS had significantly lower scores than typically speaking reference participants and speech delay controls on measures posited to assess representational and transcoding processes

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2017 Journal of speech, language, and hearing research : JSLHR

2. A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: Introduction (PubMed)

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.

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2017 Journal of speech, language, and hearing research : JSLHR

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

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: II. Validity Studies of the Pause Marker 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).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.Adjusted for questionable specificity disagreements with a pediatric Mayo Clinic diagnostic standard, the estimated sensitivity and specificity, respectively, of the PM were 86.8% and 100% for the CAS cohort, yielding positive and negative likelihood ratios of 56.45 (95% confidence interval [CI]: [1.15, 2763.31]) and 0.13 (95% CI [0.06, 0.30]). Specificity of the PM for 4 cohorts totaling 205 participants with speech delay was 98.5

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2017 Journal of speech, language, and hearing research : JSLHR

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

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: I. Development and Description of the Pause Marker 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.The authors describe and prioritize 7 criteria with which to evaluate the research and clinical utility of a diagnostic marker (...) and scoring information, and citations to papers and technical reports that include audio exemplars of the PM and reference data used to standardize PM scores are provided.The PM described here is an acoustic-aided perceptual sign that quantifies one aspect of speech precision in the linguistic domain of phrasing. This diagnostic marker can be used to discriminate early or persistent childhood apraxia of speech from speech delay.

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2017 Journal of speech, language, and hearing research : JSLHR

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

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: IV. The Pause Marker Index 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.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. Three studies were completed including criterion and concurrent validity studies of the PMI and a temporal stability study of the PMI using retrospective case studies.PM scores were significantly correlated with other signs of CAS precision and stability. The best fit of the distribution of PM scores

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2017 Journal of speech, language, and hearing research : JSLHR

6. Preliminary evaluation of a low-intensity parent training program on speech-language stimulation for children with language delay. (PubMed)

Preliminary evaluation of a low-intensity parent training program on speech-language stimulation for children with language delay. The study assessed the outcome of a low-intensity parent training program for improving parent's language input to children with language delay.Nine parents and their children aged between 12 months to 24 months, exhibiting delay in language development, participated in a brief training program over three sessions. Training comprised of inputs on speech-language (...) development, play development and speech-language stimulation strategies, supported by a manual. Effect of the training program on parent's language behaviour was evaluated through observations of parent-child interaction recorded before training and six-weeks and 10-weeks post training. Measures including, different functions served by verbalizations of parents and their nonverbal affective behaviours, were analysed.Parents' verbalizations increased significantly from baseline to the two follow-up

2019 International Journal of Pediatric Otorhinolaryngology

7. Screening for speech and language delays and disorders in children age 5 years or younger: a systematic review for the U.S. Preventive Services Task Force

Screening for speech and language delays and disorders in children age 5 years or younger: a systematic review for the U.S. Preventive Services Task Force Screening for speech and language delays and disorders in children age 5 years or younger: a systematic review for the U.S. Preventive Services Task Force Screening for speech and language delays and disorders in children age 5 years or younger: a systematic review for the U.S. Preventive Services Task Force To evaluate the evidence (...) on screening and treating children for speech and language delays or disorders for the U.S. Preventive Services Task Force (USPSTF) Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation To evaluate the evidence on screening and treating children for speech and language delays or disorders for the U.S. Preventive Services Task Force (USPSTF). Screening

2015 Health Technology Assessment (HTA) Database.

8. Screening tools compared to parental concern for identifying speech and language delays in preschool children: a review of the diagnostic accuracy

Screening tools compared to parental concern for identifying speech and language delays in preschool children: a review of the diagnostic accuracy Screening tools compared to parental concern for identifying speech and language delays in preschool children: a review of the diagnostic accuracy Screening tools compared to parental concern for identifying speech and language delays in preschool children: a review of the diagnostic accuracy CADTH Record Status This is a bibliographic record (...) of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation CADTH. Screening tools compared to parental concern for identifying speech and language delays in preschool children: a review of the diagnostic accuracy. Ottawa: Canadian Agency for Drugs and Technologies in Health (CADTH). Rapid Response - Summary with Critical Appraisal. 2013 Authors' conclusions No health technology assessments, systematic

2014 Health Technology Assessment (HTA) Database.

9. Speech and Language Delay and Disorders in Children Age 5 and Younger: Screening

Speech and Language Delay and Disorders in Children Age 5 and Younger: Screening Final Update Summary: Speech and Language Delay and Disorders in Children Age 5 and Younger: Screening - US Preventive Services Task Force Search USPSTF Website Text size: Assembly version: 1.0.0.308 Last Build: 11/16/2018 6:27:19 PM You are here: Final Summary Speech and Language Delay and Disorders in Children Age 5 and Younger: Screening Release Date: July 2015 Recommendation Summary Population Recommendation (...) Grade Children aged 5 years or younger The USPSTF concludes that the current evidence is insufficient to assess the balance of benefits and harms of screening for speech and language delay and disorders in children aged 5 years or younger. See the for suggestions for practice regarding the I statement. ( ) Related Information for Consumers Related Information for Health Professionals There is no related information for health professionals. Supporting Documents ( ) ( ) Clinical Summary Clinical

2015 U.S. Preventive Services Task Force

10. Screening Tools Compared to Parental Concern for Identifying Speech and Language Delays in Preschool Children: A Review of the Diagnostic Accuracy

Screening Tools Compared to Parental Concern for Identifying Speech and Language Delays in Preschool Children: A Review of the Diagnostic Accuracy Screening Tools Compared With Parental Concern for Identifying Speech and Language Delays in Preschool Children: A Review Context Because the acquisition of speech and language skills is fundamental to a child’s development, early identification of delays in this area is important. Screening for speech and language delays may allow more children (...) to have access to intervention services or assistance at an age when they are likely to derive the greatest benefit. Technology Screening methods used to identify young children at risk of speech and language delays include direct interaction with the child, parent-completed screening instruments such as standardized tests and questionnaires, and expressions of concern from parents regarding their children’s communication skills. Children who have been identified as being at risk can then undergo more

2013 Canadian Agency for Drugs and Technologies in Health - Rapid Review

11. Group and individual variability in speech production networks during delayed auditory feedback (PubMed)

Group and individual variability in speech production networks during delayed auditory feedback Altering reafferent sensory information can have a profound effect on motor output. Introducing a short delay [delayed auditory feedback (DAF)] during speech production results in modulations of voice and loudness, and produces a range of speech dysfluencies. The ability of speakers to resist the effects of delayed feedback is variable yet it is unclear what neural processes underlie differences (...) in susceptibility to DAF. Here, susceptibility to DAF is investigated by looking at the neural basis of within and between subject changes in speech fluency under 50 and 200 ms delay conditions. Using functional magnetic resonance imaging, networks involved in producing speech under two levels of DAF were identified, lying largely within networks active during normal speech production. Independent of condition, fluency ratings were associated with midbrain activity corresponding to periaqueductal grey matter

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2018 The Journal of the Acoustical Society of America

12. Sensitivity of Speech Output to Delayed Auditory Feedback in Primary Progressive Aphasias (PubMed)

Sensitivity of Speech Output to Delayed Auditory Feedback in Primary Progressive Aphasias Delayed auditory feedback (DAF) is a classical paradigm for probing sensori-motor interactions in speech output and has been studied in various disorders associated with speech dysfluency and aphasia. However, little information is available concerning the effects of DAF on degenerating language networks in primary progressive aphasia: the paradigmatic "language-led dementias." Here we studied two forms (...) of speech output (reading aloud and propositional speech) under natural listening conditions (no feedback delay) and under DAF at 200 ms, in a cohort of 19 patients representing all major primary progressive aphasia syndromes vs. healthy older individuals and patients with other canonical dementia syndromes (typical Alzheimer's disease and behavioral variant frontotemporal dementia). Healthy controls and most syndromic groups showed a quantitatively or qualitatively similar profile of reduced speech

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2018 Frontiers in neurology

13. 18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature (PubMed)

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature Deletions involving the long arm of chromosome 18 have been associated with a highly variable phenotypic spectrum that is related to the extent of the deleted region. Duplications in chromosomal region 4p16.3 have also been shown to cause 4p16.3 microduplication syndrome. Most reported patients of trisomy 4p16.3 have more duplications, including the Wolf (...) -Hirschhorn critical region (WHSCR). Here, we present a patient with speech delay and mental retardation caused by a deletion of 18q (18q22.1-qter) and terminal microduplication of 4p (4p16.3-pter) distal to WHSCR.The patient was a 23-month-old boy with moderate growth retardation, severe speech delay, mental retardation, and dysmorphic features. Single nucleotide polymorphism (SNP) array analysis confirmed an 11.2-Mb terminal deletion at 18q22.1 and revealed a 1.8-Mb terminal duplication of 4p16.3. Our

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2018 Molecular cytogenetics

14. Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. (PubMed)

Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. We describe six persons from three families with three homozygous protein truncating variants in PUS7: c.89_90del (p.Thr30Lysfs∗20), c.1348C>T (p.Arg450∗), and a deletion of the penultimate exon 15. All these individuals have intellectual disability with speech delay, short stature, microcephaly, and aggressive behavior. PUS7 encodes the RNA-independent pseudouridylate

2018 American Journal of Human Genetics

15. Differentiation of speech delay and global developmental delay in children Using DTI Tractography-Based Connectome (PubMed)

Differentiation of speech delay and global developmental delay in children Using DTI Tractography-Based Connectome Pure speech delay is a common developmental disorder which, according to some estimates, affects 5%-8% of the population. Speech delay may not only be an isolated condition but also can be part of a broader condition such as global developmental delay. The present study investigated whether diffusion tensor imaging tractography-based connectome can differentiate global (...) developmental delay from speech delay in young children.Twelve children with pure speech delay (39.1 ± 20.9 months of age, 9 boys), 14 children with global developmental delay (39.3 ± 18.2 months of age, 12 boys), and 10 children with typical development (38.5 ± 20.5 months of age, 7 boys) underwent 3T DTI. For each subject, whole-brain connectome analysis was performed by using 116 cortical ROIs. The following network metrics were measured at individual regions: strength (number of the shortest paths

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2016 AJNR. American journal of neuroradiology

16. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. (PubMed)

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling complex. However, the clinical consequences of disruption of this complex remain largely uncharacterized. BPTF is required for anterior-posterior axis formation of the mouse embryo and was shown (...) to promote posterior neuroectodermal fate by enhancing Smad2-activated wnt8 expression in zebrafish. Here, we report eight loss-of-function and two missense variants (eight de novo and two of unknown origin) in BPTF on 17q24.2. The BPTF variants were found in unrelated individuals aged between 2.1 and 13 years, who manifest variable degrees of developmental delay/intellectual disability (10/10), speech delay (10/10), postnatal microcephaly (7/9), and dysmorphic features (9/10). Using CRISPR-Cas9 genome

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2017 American Journal of Human Genetics

17. An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report (PubMed)

An intragenic deletion within CTNNA2 intron 7 in a boy with short stature and speech delay: A case report Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay.We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb (...) deletion within the seventh intron of the CTNNA2 gene at 2p11.2-p12. We observed that some features (short stature, facial dysmorphisms and speech delay) were present in our patient and in patients carrying much larger overlapping deletions.The description of this small intragenic rearrangement might help to elucidate the role of the single genes included in the 2p11.2-p12 critical region.

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2017 SAGE Open Medical Case Reports

18. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (PubMed)

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving (...) a dramatically decreased level of TRIP12 mRNA in the proband compared to the family controls, indicating a loss-of-function mechanism. The shared clinical features include intellectual disability with or without autistic spectrum disorders, speech delay, and facial dysmorphism. Our findings demonstrate that E3 ubiquitin ligase TRIP12 plays an important role in nervous system development and function. The nine presented pathogenic variants further document that TRIP12 haploinsufficiency causes a childhood

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2017 Human Genetics

19. Typical versus delayed speech onset influences verbal reporting of autistic interests (PubMed)

Typical versus delayed speech onset influences verbal reporting of autistic interests The distinction between autism and Asperger syndrome has been abandoned in the DSM-5. However, this clinical categorization largely overlaps with the presence or absence of a speech onset delay which is associated with clinical, cognitive, and neural differences. It is unknown whether these different speech development pathways and associated cognitive differences are involved in the heterogeneity (...) of the restricted interests that characterize autistic adults.This study tested the hypothesis that speech onset delay, or conversely, early mastery of speech, orients the nature and verbal reporting of adult autistic interests. The occurrence of a priori defined descriptors for perceptual and thematic dimensions were determined, as well as the perceived function and benefits, in the response of autistic people to a semi-structured interview on their intense interests. The number of words, grammatical

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2017 Molecular autism

20. Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development (PubMed)

Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development 29071826 2019 02 20 2019 03 20 2234-3814 38 1 2018 01 Annals of laboratory medicine Ann Lab Med Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development. 77-79 10.3343/alm.2018.38.1.77 Kwon Soon Sung SS Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. Kim Jieun J Department of Laboratory Medicine, Soon Chun Hyang

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2017 Annals of laboratory medicine

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