Intervention studies with group design targeting expressive phonology for children with developmental speech and language disorder: A systematic review and meta-analysis.

BACKGROUND: Phonological difficulties are prevalent in children with speech and/or language disorders and may hamper their later language outcomes and academic achievements. These children often form a significant proportion of speech and language therapists' caseloads. There is a shortage of information on evidence-based interventions for improving phonological skills in children and adolescents with speech and language disorder. AIMS: The aim of this systematic literature review and meta-analysis was to systematically examine the effects of different intervention approaches on speech production accuracy and phonological representation skills in children with speech and language disorders. METHODS: A preregistered systematic review (International Prospective Register of Systematic Reviews ID: CRD42017076075) adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines was completed. Seven electronic databases (PubMed, Web of Science, ERIC, PsychINFO, Cochrane Library, SCOPUS and Linguistics & Language Behavior Abstracts) were searched for studies related to oral language interventions with children with developmental speech and/or language disorder (mean age ranging from 3-18 years) published between January 2006 and August 2022. The included articles reported intervention studies with a group design in which speech production accuracy was the outcome measure. Studies were appraised using the Cochrane risk of bias tool, and individual effect sizes were calculated using standardised means differences when enough data was available. A meta-analysis was conducted obtaining the average standardised mean difference d. Heterogeneity, influence of possible moderator variables and publication bias were explored. RESULTS: The 23 studies that met the inclusion criteria presented low-medium risk of bias. Nine effect sizes were obtained from seven of these studies that presented a pre-post-test with a control group design. Medium-high average effect sizes were found in phonological accuracy. Heterogeneity was found between individual effect sizes. Significant moderator variables and publication bias were not detected. CONCLUSIONS: The results of this meta-analysis indicate positive effects on speech production accuracy. Based on this review, further improvements in the quality of reporting for intervention research are required in developing the evidence base for practice. WHAT THIS PAPER ADDS: What is already known on the subject An increasing number of interventions is available for children and adolescents with developmental speech and/or language disorders. Previous reviews suggest relatively low levels of evidence of interventions having phonology as an outcome measure. What this paper adds to the existing knowledge This review and meta-analysis summarise the intervention evidence from a substantial body of group design studies, indicating positive results from a range of interventions with phonological outcomes. It highlights the need to systematically implement and replicate different intervention procedures to understand factors that will maximise positive outcomes and to grow the evidence base for best practice. What are the potential or actual clinical implications of this study? Tentative evidence is emerging for the effectiveness of various approaches in enhancing speech production accuracy skills of children and adolescents with developmental speech and/or language disorder.

Exploring the Role of Machine Learning in Diagnosing and Treating Speech Disorders: A Systematic Literature Review.

Purpose: Speech disorders profoundly impact the overall quality of life by impeding social operations and hindering effective communication. This study addresses the gap in systematic reviews concerning machine learning-based assistive technology for individuals with speech disorders. The overarching purpose is to offer a comprehensive overview of the field through a Systematic Literature Review (SLR) and provide valuable insights into the landscape of ML-based solutions and related studies. Methods: The research employs a systematic approach, utilizing a Systematic Literature Review (SLR) methodology. The study extensively examines the existing literature on machine learning-based assistive technology for speech disorders. Specific attention is given to ML techniques, characteristics of exploited datasets in the training phase, speaker languages, feature extraction techniques, and the features employed by ML algorithms. Originality: This study contributes to the existing literature by systematically exploring the machine learning landscape in assistive technology for speech disorders. The originality lies in the focused investigation of ML-speech recognition for impaired speech disorder users over ten years (2014-2023). The emphasis on systematic research questions related to ML techniques, dataset characteristics, languages, feature extraction techniques, and feature sets adds a unique and comprehensive perspective to the current discourse. Findings: The systematic literature review identifies significant trends and critical studies published between 2014 and 2023. In the analysis of the 65 papers from prestigious journals, support vector machines and neural networks (CNN, DNN) were the most utilized ML technique (20%, 16.92%), with the most studied disease being Dysarthria (35/65, 54% studies). Furthermore, an upsurge in using neural network-based architectures, mainly CNN and DNN, was observed after 2018. Almost half of the included studies were published between 2021 and 2022).

Impaired speech input and output processing abilities in children with cleft palate speech disorder.

BACKGROUND: Cleft lip and palate is one of the most common oral and maxillofacial deformities associated with a variety of functional disorders. Cleft palate speech disorder (CPSD) occurs the most frequently and manifests a series of characteristic speech features, which are called cleft speech characteristics. Some scholars believe that children with CPSD and poor speech outcomes may also have weaknesses in speech input processing ability, but evidence is still lacking so far. AIMS: (1) To explore whether children with CPSD and speech output disorders also have defects in speech input processing abilities; (2) to explore the correlation between speech input and output processing abilities. METHODS & PROCEDURES: Children in the experimental group were enrolled from Beijing Stomatological Hospital, Capital Medical University, and healthy volunteers were recruited as controls. Then three tasks containing real and pseudo words were performed sequentially. Reaction time, accuracy and other indicators in three tasks were collected and then analysed. OUTCOMES & RESULTS: The indicators in the experimental group were significantly lower than those in the control group. There was a strong correlation between speech input and output processing tasks. The performance of both groups when processing pseudo words in the three tasks was worse than that when dealing with real words. CONCLUSIONS & IMPLICATIONS: Compared with normal controls, children with CPSD have deficits in both speech input and output processing, and there is a strong correlation between speech input and output speech processing abilities. In addition, the pseudo words task was more challenging than the real word task for both groups. WHAT THIS PAPER ADDS: What is already known on the subject Children with cleft lip and palate often have speech sound disorders known as cleft palate speech disorder (CPSD). CPSD is characterised by consonant errors called cleft speech characteristics, which can persist even after surgery. Some studies suggest that poor speech outcomes in children with CPSD may be associated with deficits in processing speech input. However, this has not been validated in mainland China. What this paper adds to existing knowledge The results of our study indicate that children with CPSD exhibit poorer performance in three tasks assessing speech input and output abilities compared to healthy controls, suggesting their deficits in both speech input and output processing. Furthermore, a significant correlation was observed between speech input and output processing abilities. Additionally, both groups demonstrated greater difficulty in processing pseudo words compared to real words, as evidenced by their worse performance in dealing with pseudo words. What are the potential or actual clinical implications of this work? The pseudo word tasks designed and implemented in our study can be employed in future research and assessment of speech input and output abilities in Chinese Mandarin children with CPSD. Additionally, our findings revealed the significance of considering both speech output processing abilities and potential existence of speech input processing ability for speech and language therapists when evaluating and developing treatment options for children with CPSD as these abilities are also important for the development of literacy development.

The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.

Speech and language disorders are known to have a substantial genetic contribution. Although frequently examined as components of other conditions, research on the genetic basis of linguistic differences as separate phenotypic subgroups has been limited so far. Here, we performed an in-depth characterization of speech and language disorders in 52,143 individuals, reconstructing clinical histories using a large-scale data mining approach of the Electronic Medical Records (EMR) from an entire large paediatric healthcare network. The reported frequency of these disorders was the highest between 2 and 5 years old and spanned a spectrum of twenty-six broad speech and language diagnoses. We used Natural Language Processing to assess to which degree clinical diagnosis in full-text notes were reflected in ICD-10 diagnosis codes. We found that aphasia and speech apraxia could be easily retrieved through ICD-10 diagnosis codes, while stuttering as a speech phenotype was only coded in 12% of individuals through appropriate ICD-10 codes. We found significant comorbidity of speech and language disorders in neurodevelopmental conditions (30.31%) and to a lesser degree with epilepsies (6.07%) and movement disorders (2.05%). The most common genetic disorders retrievable in our EMR analysis were STXBP1 (n=21), PTEN (n=20), and CACNA1A (n=18). When assessing associations of genetic diagnoses with specific linguistic phenotypes, we observed associations of STXBP1 and aphasia (P=8.57 × 10-7, CI=18.62-130.39) and MYO7A with speech and language development delay due to hearing loss (P=1.24 × 10-5, CI=17.46-Inf). Finally, in a sub-cohort of 726 individuals with whole exome sequencing data, we identified an enrichment of rare variants in synaptic protein and neuronal receptor pathways and associations of UQCRC1 with expressive aphasia and WASHC4 with abnormality of speech or vocalization. In summary, our study outlines the landscape of paediatric speech and language disorders, confirming the phenotypic complexity of linguistic traits and novel genotype-phenotype associations. Subgroups of paediatric speech and language disorders differ significantly with respect to the composition of monogenic aetiologies.

Stunted girl: A heartbreaking case report of underdiagnosed and untreated posterior ankyloglossia.

INTRODUCTION: Plastic surgeons can help to eliminate stunting by surgically treating children born with congenital craniofacial anomalies such as tongue-tie, or ankyloglossia. Releasing ankyloglossia can help to support breastfeeding and the later development of orofacial anatomy and physiology. Failure to do so can lead to growth and development difficulties in children. We report a heartbreaking case of a stunted 8 year-old female with underdiagnosed and untreated ankyloglossia. PRESENTATION OF CASE: The patient was consulted with a short stature, speech disorder, and swallowing disorder. History taking and physical examination led to a diagnosis of type 4 (posterior) ankyloglossia. The Hazelbaker Assessment Tool for Lingual Frenulum Function mandated a frenotomy. Under general anesthesia, frenotomy was performed surgically, and significant tongue mobility was gained. DISCUSSION: This case alerted both surgeon and pediatrician that collaboration is a must to intervene in such a specific congenital anomalies. Posterior (type 4) ankyloglossia may cause difficulties in tongue mobility which can lead to difficulties in breastfeeding and swallowing, speech disorders, and malocclusion. Posterior ankyloglossia is not only the most severe form of ankyloglossia, but also the most difficult to diagnose. CONCLUSION: In the absence of social and environmental factors, posterior (type 4) ankyloglossia was the single most responsible factor in this growth and development delay in the girl. Timely diagnosis and treatment could have prevented such a stunted condition.

Communicative practices and perceptions towards stuttering people in South Africa.

BACKGROUND:  A few studies have explored the life experiences of people who stutter. Research has shown that stuttering affects a significant number of people in the population. OBJECTIVES:  The study was designed to explore the experiences of people who stutter and the perception of stuttering in South Africa. METHOD:  Four people who identified as South Africans who stutter participated in this study. The primary investigator conducted semi-structured interviews with each of the participants. In addition, a questionnaire was administered to 20 acquaintances of all the participants. Transcriptions of interviews and results of questionnaires were analysed for major and minor themes. RESULTS:  Results of this study suggest different perceptions by those who stutter and those acquainted with them. The findings of the study show that people who stutter experience communication barriers, so they adopt certain strategies to manage and cope with their speech disorder. The findings showed that stuttering has a pervasive impact on the lives of people who stutter and how they view themselves, considering negative societal views. CONCLUSION:  Evaluation of the results from the study reveals that although stuttering is a common speech disorder, many people who are less informed about it harbour various stereotypes and myths that stigmatise stuttering. This study concludes by outlining recommendations for creating awareness of stuttering. It suggests vigorous campaigns aiming at promoting a multilevel approach that extends beyond the mere social and professional understanding of stuttering but addresses the inherent perceptions, myths, and stereotypes around stuttering.Contribution: Experiences of people who stutter and perceptions towards stuttering can help to better understand the speech disorder and overcome myths and stereotyping of stuttering.

A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis.

The mediator complex subunit 13 (MED13) gene is implicated in neurodevelopmental disorders including autism spectrum disorder (ASD), intellectual disability, and speech delay with varying severity and course. Additional, extra central nervous system, features include eye or vision problems, hypotonia, congenital heart abnormalities, and dysmorphisms. We describe a 7-year- and 4-month-old girl evaluated for ASD whose brain magnetic resonance imaging was suggestive of multiple cortical tubers. The exome sequencing (ES - trio analysis) uncovered a unique, de novo, frameshift variant in the MED13 gene (c.4880del, D1627Vfs*17), with a truncating effect on the protein. This case report thus expands the phenotypic spectrum of MED13-related disorders to include brain abnormalities.

Early Postoperative Benefits in Receptive and Expressive Language Development After Cochlear Implantation Under 9 Months of Age in Comparison to Implantation at Later Ages.

OBJECTIVES: The recent expansion of eligibility for cochlear implantation (CI) by the U.S. Food and Drug Administration (FDA) to include infants as young as 9 months has reignited debates concerning the clinically appropriate cut-off age for pediatric CI. Our study compared the early postoperative trajectories of receptive and expressive language development in children who received CI before 9 months of age with those who received it between 9 and 12 months. This study involved a unique pediatric cohort with documented etiology, where the timing of CI was based on objective criteria and efforts were made to minimize the influence of parental socioeconomic status. METHODS: A retrospective review of 98 pediatric implantees recruited at a tertiary referral center was conducted. The timing of CI was based on auditory and language criteria focused on the extent of delay corresponding to the bottom 1st percentile of language development among age-matched controls, with patients categorized into very early (CI at <9 months), early (CI at 9-12 months) and delayed (CI at 12-18 months) CI groups. Postoperative receptive/expressive language development was assessed using the Sequenced Language Scale for Infants receptive and expressive standardized scores and percentiles. RESULTS: Only the very early CI group showed significant improvements in receptive language starting at 3 months post-CI, aligning with normal-hearing peers by 9 months and maintaining this level until age 2 years. During this period (<2 years), all improvements were more pronounced in receptive language than in expressive language. CONCLUSION: CI before 9 months of age significantly improved receptive language development compared to later CI, with improvements sustained at least up to the age of 2. This study supports the consideration of earlier CI, beyond pediatric Food and Drug Administration labeling criteria (>9 months), in children with profound deafness who have a clear deafness etiology and language development delays (<1st percentile).

Comparing the Clinical Effectiveness of Telerehabilitation with Traditional Speech and Language Rehabilitation in Children with Hearing Disabilities: A Systematic Review.

Introduction: The use of telerehabilitation for the treatment of speech and language disorders in the field of hearing is increasing. A comprehensive study comparing telerehabilitation's effectiveness with traditional rehabilitation can help us understand it better. Therefore, this systematic review aimed to compare the effectiveness of telerehabilitation with traditional rehabilitation for speech and language disorders in children with hearing disabilities in 2023. Methods: A systematic search was conducted in PubMed, PubMed Central, Cochrane, Scopus, Google Scholar, Science Direct, and the Web of Science from 2000 to February 28, 2023. The articles were selected based on keywords, determined criteria, and reviewed in terms of title, abstract, and full text. Finally, articles that were relevant to our aim were evaluated. Results: The initial search resulted in the extraction of 1,788 articles. After reviewing the articles and applying the inclusion and exclusion criteria, nine articles were selected for analysis. Four (44.44%) and 3 (33.33%) studies were case-control and quasi-experimental studies, respectively. Four (44.44%) studies were conducted in the United States. SPSS, Preschool Language Scales, fifth edition (PLS-5), and microphone were the most common tools, each of which included 4 (44.44%), 3 (33.33%), and (333.33%) studies. Conclusions: Traditional rehabilitation and telerehabilitation can effectively improve the speech and language skills of children with hearing disabilities. However, it is always suggested to use traditional rehabilitation first to achieve better results.

Clinical efficacy of acupuncture combined with computer speech disorder correction training in the treatment of autistic children / 新乡医学院学报

Objective To explore the clinical efficacy of acupuncture combined with computer speech disorder correction training in the treatment of children with autism.Methods A total of 108 children with autism admitted to the Department of Pediatrics,Puyang Oilfield General Hospital Affiliated to Xinxiang Medical University from December 2019 to December 2021 were selected as the research subjects.According to the treatment methods,the children were divided into the control group and the observation group,with 54 children in each group.The children in the control group received computer speech disorder correction training,while the children in the.observation group received acupuncture treatment on the basis of the control group,and all children were treated for 4 months.Before and after treatment,the severity of symptoms of children was evaluated by the childhood autism rating scale(CARS),the treatment effectiveness of language function of children was evaluated by the language delayed development test(S-S method),the abnormal behavior of children was evaluated by the autism behavior checklist(ABC),and the central nervous system function of children was evaluated by the Gesell development scale(GDS).The satisfaction of the children's family members was evaluated by the Chinese version of critical care family satisfaction survey(C-CCFSS).Results There was no significant difference in the CARS score of children between the two groups before treatment(P＞0.05);after treatment,the CARS score of children in the observation group was significantly lower than that in the control group(P＜0.05);there was no significant difference in the CARS score before and after treatment in the control group(P＞0.05);the CARS score of children in the observation group after treatment was significantly lower than that before treatment(P＜0.05).The total effective rates of language function therapy of children in the control group and observation group were 83.33％(45/54)and 96.30％(52/54),respectively;the total effective rate of language function therapy of children in the observation group was significantly higher than that in the control group(x2=4.960,P＜0.05).Before treatment,there was no significant difference in the each item scores and scores total scores of ABC of children between the two groups(P＞0.05);the each item scores and total scores of ABC of children in the two groups after treatment were significantly lower than those before treatment(P＜0.05);after treatment,the each item scores and total scores of ABC of children in the observation group were significantly lower than those in the control group(P＜0.05).Before treatment,there was no signifi-cant difference in GDS score of children between the two groups(P＞0.05);after treatment,the GDS score of children in the observation group was significantly higher than that in the control group(P＜0.05);there was no significant difference in GDS score of children before and after treatment in the control group(P＞0.05);the GDS score of children in the observation group after treatment was significantly higher than that before treatment(P＜0.05).The satisfaction of family member of children in the control group and the observation group was 81.48％(44/54)and 94.44％(51/54),respectively.The satisfaction of family member of children in the observation group was significantly higher than that in the control group(x2=4.285,P＜0.05).Conclusion Acupuncture combined with computer speech disorder correction training can effectively improve the severity of the clinical symptoms and abnormal behavior of children with autism,promote language function and intellectual recovery,and has high family satisfaction,which is worthy of clinical promotion and application.

Health supervision for children and adolescents with 16p11.2 deletion syndrome.

Rare genetic conditions are challenging for the primary care provider to manage without proper guidelines. This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care and armed with up-to-date guidelines will prove most helpful to the rare genetic patient population. A special focus on technology to fill gaps in deficits, review of case studies on novel medical treatments, and involvement with the educational system for advocacy with an emphasis on celebrating diversity will serve the rare genetic syndrome population well.

Acquisition of the feature [+spread glottis] in Icelandic.

The feature [+spread glottis] ([+s.g.]) denotes that a speech sound is produced with a wide glottal aperture with audible voiceless airflow. Icelandic is unusual in the degree to which [+spread glottis] is involved in the phonology: in /h/, pre-aspirated and post-aspirated stops, voiceless fricatives and voiceless sonorants. The ubiquitousness of the feature could potentially affect the rate and process of its acquisition. This paper investigates the development of [+s.g.] in Icelandic, both in general and in a range of contexts, in a cross-sectional study of 433 typically developing Icelandic-speaking children aged two to seven years. As a feature, [+s.g.] is acquired early in Icelandic, although specific sound classes lag behind due to other output constraints. Children reach mastery of [+s.g.] by age three except in word-initial post-aspirated stops and voiceless nasals. Findings are interpreted in light of the literature on the feature and its development.

Making the visible seen: The interactional competence of a person in a disordered state of consciousness.

We examine a 12-min video-recorded interaction among a patient (KN) in a disordered state of consciousness (DOC) and a speech language pathologist clinician (CL) that takes place in a medical rehabilitation setting. The video is a demonstration of how caregivers could use a clinical assessment to observe their loved one's behavior to communicate potential behavioral changes to healthcare professionals. The purpose of this paper is to make visible the communication practices used by participants that may not be obvious to researchers, medical rehabilitation practitioners, and clinical assessment developers. We use phenomenological, linguistic and conversation analytic approaches to analyze the interaction. We found that KN demonstrates multiple conversational competencies, some (but not all) of which are acknowledged by CL, and most of which are not directly addressed by the assessment scoring criteria. For example, KN demonstrates conversational competency by responding non-verbally to CL's prompts from the assessment protocol and following along with the unspoken rules of discourse. He does this primarily through gaze, which broadcasts the focus of his attention and actively signals his participation in the conversation. Though KN does not always respond correctly to CL's questions, he nevertheless demonstrates implicit conversational competencies during turns of talk such as returning to 'neutral' position which signals the completion of a turn of talk. KN's conversational competencies may be missed by CL and the assessment protocol but we argue that they are important in understanding KN's capacity. Our analyses show that competency is not simply a performance by one person who appropriately and correctly responds to a series of questions in a prescribed time frame. Competence is a collaborative achievement among participants, co-produced in situ, and influenced by linguistic and cultural habits of talk and epistemic norms that privilege clinical knowledge and expertise.

Functional Speech and Voice Disorders: Approaches to Diagnosis and Treatment.

Historically, formal training for speech-language therapists (SLTs) in the area of functional speech and voice disorders (FSVD) has been limited, as has the body of empirical research in this content area. Recent efforts in the field have codified expert opinions on best practices for diagnosing and treating FSVD and have begun to demonstrate positive treatment outcomes. To provide comprehensive interventions for these complex conditions at the intersection of neurology, psychiatry, and other medical specialties, the SLT must not only build knowledge of diagnostic strategies and components of symptomatic treatment in FSVD but also embrace behavior change techniques and counseling strategies.

Speech and language therapy: A treatment case series of 20 patients with functional speech disorder.

BACKGROUND: While expert consensus recommendations support the use of speech and language therapy (SLT) for patients with functional speech disorder (FND-speech), there are limited published data on clinical outcomes. OBJECTIVE: To retrospectively report the treatment outcomes and clinical characteristics of patients with FND-speech that attended outpatient SLT as part of a multidisciplinary program for functional neurological disorder (FND). METHODS: In this case series, we included adult patients with FND-speech that consecutively participated in outpatient SLT at our institution between October 2014 and September 2021. Baseline demographic and neuropsychiatric characteristics were extracted from the medical records, along with data on FND-speech phenotypes, number of treatment sessions received, and clinician-determined outcomes. Only descriptive statistics were used to report findings. RESULTS: Twenty patients met inclusion criteria; ages ranged from 21-77, with a mean of 51.6±16.2 years. 85% of the cohort presented with mixed FND-speech symptoms. Patients attended a range of 2-37 visits, with an average of 9.2±8.0 visits over 4.4±3.5 months. At the last treatment session, 3 patients were asymptomatic, 15 had improved, and 2 had not improved; 8 individuals that improved received video telehealth interventions. CONCLUSION: This case series lends additional support for outpatient SLT in the assessment and management of individuals with FND-speech, and may help clarify patient and provider treatment expectations. Additional prospective research is needed to investigate baseline predictors of treatment response and further define the optimal frequency, intensity, duration, and clinical setting for SLT delivery in this population.

Automatic Detection System for Velopharyngeal Insufficiency Based on Acoustic Signals from Nasal and Oral Channels.

Velopharyngeal insufficiency (VPI) is a type of pharyngeal function dysfunction that causes speech impairment and swallowing disorder. Speech therapists play a key role on the diagnosis and treatment of speech disorders. However, there is a worldwide shortage of experienced speech therapists. Artificial intelligence-based computer-aided diagnosing technology could be a solution for this. This paper proposes an automatic system for VPI detection at the subject level. It is a non-invasive and convenient approach for VPI diagnosis. Based on the principle of impaired articulation of VPI patients, nasal- and oral-channel acoustic signals are collected as raw data. The system integrates the symptom discriminant results at the phoneme level. For consonants, relative prominent frequency description and relative frequency distribution features are proposed to discriminate nasal air emission caused by VPI. For hypernasality-sensitive vowels, a cross-attention residual Siamese network (CARS-Net) is proposed to perform automatic VPI/non-VPI classification at the phoneme level. CARS-Net embeds a cross-attention module between the two branches to improve the VPI/non-VPI classification model for vowels. We validate the proposed system on a self-built dataset, and the accuracy reaches 98.52%. This provides possibilities for implementing automatic VPI diagnosis.

Social, emotional and behavioural difficulties associated with persistent speech disorder in children: A prospective population study.

Purpose: Social, emotional and behavioural difficulties (SEBD) in childhood are associated with negative consequences across the life course. Children with developmental language disorder have been identified as being at risk of developing SEBD but it is unclear whether a similar risk exists for children with speech sound disorder, a condition which impacts on children's ability to make themselves understood and has been shown to be associated with poor educational outcomes. Methods: Participants were children who attended the 8-year-old clinic in the Avon Longitudinal Study of Parents and Children (N = 7390). Children with speech sound disorder that had persisted beyond the period of typical speech acquisition (persistent speech disorder [PSD]) at age 8 were identified from recordings and transcriptions of speech samples (N = 263). Parent-, teacher- and child-reported questionnaires and interviews including the Strengths and Difficulties Questionnaire, Short Moods and Feelings Questionnaire and measures for antisocial and risk-taking behaviour were used to provide outcome scores for SEBD at 10-14 years in a series of regression analyses. Results: Following adjustment for biological sex, socio-economic status and Intelligence Quotient, children with PSD at age 8 were more likely to show peer problems at age 10-11 years compared with their peers, as reported by teachers and parents. Teachers were more likely to report problems with emotionality. Children with PSD were no more likely to report symptoms of depression than their peers. No associations were observed between PSD, risk of antisocial behaviour, trying alcohol at age 10 or smoking cigarettes at age 14. Conclusions: Children with PSD may be at risk in terms of their peer relationships. This could impact on their wellbeing and, while not observed at this age, may lead to depressive symptoms in older childhood and adolescence. There is also the potential that these symptoms may impact on educational outcomes.

A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

BACKGROUND: ZNF142 gene is a protein-coding gene encoding Zinc Finger Protein 142. ZNF proteins are a vast group of cellular effectors with a wide range of functions such as signal transduction, transcriptional regulation, meiotic recombination, DNA repair, development, and cell migration. Mutations in the ZNF142 gene are related to neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This study on a family with three affected siblings identified a pathogenic frameshift insertion variant. In addition, we conducted a review of the literature on previously reported ZNF142 gene variants and their clinical manifestations. MATERIALS AND METHODS: Three affected siblings with severe intellectual developmental disabilities and speech impairments, their parents, and other sibs in the family were included. The patients were studied by the whole exome sequencing. Sanger sequencing, co-segregation analysis, and in silico analysis were carried out to verify candidate variant. The identified variant was interpreted based on the ACMG guideline. RESULTS: We identified a frameshift insertion variant in the ZNF142 gene, NM_001379659.1: c.3755dup (NP_001366588.1:p.Arg1253ThrfsTer15), that was related to the clinical features of three patients. The identified variant was found to be pathogenic. CONCLUSION: The current study findings expand the existing knowledge of the variant on the ZNF142 gene implicated in the neurodevelopmental disorder, intellectual disability, and impaired speech and it presents a detailed clinical feature associated with related conditions. The data have implications for genetic diagnosis and counseling in families with the same disorders.

Music Therapy for Gait and Speech Deficits in Parkinson's Disease: A Mini-Review.

Parkinson's disease (PD) is a progressive central nervous system disease with a common motor symptom of gait disturbance in PD, which is more pronounced in the later stages. Although FDA-approved treatments, including dopaminergic pharmacotherapy, deep brain stimulation, and rehabilitation, have some benefits in improving gait dysfunction, a fair amount of advanced PD patients can develop a disability, social isolation, and high mortality and morbidity. Recently, clinicians and scientists have applied music to clinical therapy, namely music therapy. It has been used as a unique rehabilitation tool to improve PD-induced gait and speech disorders. Based on relevant studies in recent years, this paper reviews the published literature about music in treating gait disorders and speech problems in PD patients. Additionally, we discuss current studies' limitations and emphasize the future potential research fields.

Articulatory speech measures can be related to the severity of multiple sclerosis.

Background: Dysarthria is one of the most frequent communication disorders in patients with Multiple Sclerosis (MS), with an estimated prevalence of around 50%. However, it is unclear if there is a relationship between dysarthria and the severity or duration of the disease. Objective: Describe the speech pattern in MS, correlate with clinical data, and compare with controls. Methods: A group of MS patients (n = 73) matched to healthy controls (n = 37) by sex and age. Individuals with neurological and/or systemic conditions that could interfere with speech were excluded. MS group clinical data were obtained through the analysis of medical records. The speech assessment consisted of auditory-perceptual and speech acoustic analysis, from recording the following speech tasks: phonation and breathing (sustained vowel/a/); prosody (sentences with different intonation patterns) and articulation (diadochokinesis; spontaneous speech; diphthong/iu/repeatedly). Results: In MS, 72.6% of the individuals presented mild dysarthria, with alterations in speech subsystems: phonation, breathing, resonance, and articulation. In the acoustic analysis, individuals with MS were significantly worse than the control group (CG) in the variables: standard deviation of the fundamental frequency (p = 0.001) and maximum phonation time (p = 0.041). In diadochokinesis, individuals with MS had a lower number of syllables, duration, and phonation time, but larger pauses per seconds, and in spontaneous speech, a high number of pauses were evidenced as compared to CG. Correlations were found between phonation time in spontaneous speech and the Expanded Disability Status Scale (EDSS) (r = - 0.238, p = 0.043) and phonation ratio in spontaneous speech and EDSS (r = -0.265, p = 0.023), which indicates a correlation between the number of pauses during spontaneous speech and the severity of the disease. Conclusion: The speech profile in MS patients was mild dysarthria, with a decline in the phonatory, respiratory, resonant, and articulatory subsystems of speech, respectively, in order of prevalence. The increased number of pauses during speech and lower rates of phonation ratio can reflect the severity of MS.