The process of identification and management of neurological disorder conditions faces challenges, prompting the investigation of novel methods in order to improve diagnostic accuracy. In this study, we conducted a systematic literature review to identify the significance of genetics- and molecular-pathway-based machine learning (ML) models in treating neurological disorder conditions. According to the study\'s objectives, search strategies were developed to extract the research studies using digital libraries. We followed rigorous study selection criteria. A total of 24 studies met the inclusion criteria and were included in the review. We classified the studies based on neurological disorders. The included studies highlighted multiple methodologies and exceptional results in treating neurological disorders. The study findings underscore the potential of the existing models, presenting personalized interventions based on the individual\'s conditions. The findings offer better-performing approaches that handle genetics and molecular data to generate effective outcomes. Moreover, we discuss the future research directions and challenges, emphasizing the demand for generalizing existing models in real-world clinical settings. This study contributes to advancing knowledge in the field of diagnosis and management of neurological disorders.

UNASSIGNED: Tongue-tie, which is also known as ankyloglossia, is a common condition where the lingual frenulum is unusually tight or short. While most literature investigates the impact of tongue-tie on breastfeeding, recent articles have examined its role in speech production in children. However, these have not previously been reviewed systematically. This study aims to determine the impact of tongue-tie on speech outcomes and assess whether frenectomy can improve speech function.
UNASSIGNED: In this systematic review, we conducted a comprehensive search of PubMed/MEDLINE, Cochrane Library, Embase, and speechBITE to analyze primary studies investigating the impact of frenectomy for tongue-tie on speech outcomes. We extracted data regarding patient age, male to female ratio, procedure type, follow-up time, and speech outcomes and ran statistical analyses to determine if frenectomy for tongue-tie leads to improvement in speech issues in pediatric patients. Speech outcomes extracted were subjectively measured based on the interpretation of a speech and language pathologist or parent.
UNASSIGNED: Our analysis included 10 studies with an average patient age of 4.10 years, and average cohort size of 22.17 patients. Overall, frenectomy for tongue-tie was associated with an improvement in speech articulation (0.78; 95% CI: 0.64-0.87; P < .01). Increasing patient age was found to be negatively correlated with post-frenectomy speech outcomes (P = .01). However, this relationship disappeared in the adjusted model.
UNASSIGNED: Overall, we conclude that frenectomy is a suitable treatment to correct speech issues in select patients with tongue-tie if caught early in childhood. Despite the limited investigations around speech outcomes post-frenectomy, these results are informative to providers treating tongue-tie.

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. A total of 36 pathogenic variants have been identified from 122 cases across 3 cohorts in this nascent field. All genes identified have been in coding regions to date, with no apparent benefit at this stage for WGS over WES in identifying monogenic conditions associated with CAS. Hence current findings suggest a remarkable one in three children have a genetic variant that explains their CAS, with significant genetic heterogeneity emerging. Around half of the candidate genes identified are currently supported by medium (6 genes) to strong (9 genes) evidence supporting the association between the gene and CAS. Despite genetic heterogeneity; many implicated proteins functionally converge on pathways involved in chromatin modification or transcriptional regulation, opening the door to precision diagnosis and therapies. Most of the new candidate genes for CAS are associated with previously described neurodevelopmental conditions that include intellectual disability, autism and epilepsy; broadening the phenotypic spectrum to a distinctly milder presentation defined by primary speech disorder in the setting of normal intellect. Insights into the genetic bases of CAS, a severe, rare speech disorder, are yet to translate to understanding the heritability of more common, typically milder forms of speech or language impairment such as stuttering or phonological disorder. These disorders likely follow complex inheritance with polygenic contributions in many cases, rather than the monogenic patterns that underly one-third of patients with CAS. Clinical genetic testing for should now be implemented for individuals with CAS, given its high diagnostic rate, which parallels many other neurodevelopmental disorders where this testing is already standard of care. The shared mechanisms implicated by gene discovery for CAS highlight potential new targets for future precision therapies.

Children with speech and language difficulties are at risk for learning and behavioral problems.
To review the evidence on screening for speech and language delay or disorders in children 5 years or younger to inform the US Preventive Services Task Force.
PubMed/MEDLINE, Cochrane Library, PsycInfo, ERIC, Linguistic and Language Behavior Abstracts (ProQuest), and trial registries through January 17, 2023; surveillance through November 24, 2023.
English-language studies of screening test accuracy, trials or cohort studies comparing screening vs no screening; randomized clinical trials (RCTs) of interventions.
Dual review of abstracts, full-text articles, study quality, and data extraction; results were narratively summarized.
Screening test accuracy, speech and language outcomes, school performance, function, quality of life, and harms.
Thirty-eight studies in 41 articles were included (N = 9006). No study evaluated the direct benefits of screening vs no screening. Twenty-one studies (n = 7489) assessed the accuracy of 23 different screening tools that varied with regard to whether they were designed to be completed by parents vs trained examiners, and to screen for global (any) language problems vs specific skills (eg, expressive language). Three studies assessing parent-reported tools for expressive language skills found consistently high sensitivity (range, 88%-93%) and specificity (range, 88%-85%). The accuracy of other screening tools varied widely. Seventeen RCTs (n = 1517) evaluated interventions for speech and language delay or disorders, although none enrolled children identified by routine screening in primary care. Two RCTs evaluating relatively intensive parental group training interventions (11 sessions) found benefit for different measures of expressive language skills, and 1 evaluating a less intensive intervention (6 sessions) found no difference between groups for any outcome. Two RCTs (n = 76) evaluating the Lidcombe Program of Early Stuttering Intervention delivered by speech-language pathologists featuring parent training found a 2.3% to 3.0% lower proportion of syllables stuttered at 9 months compared with the control group when delivered in clinic and via telehealth, respectively. Evidence on other interventions was limited. No RCTs reported on the harms of interventions.
No studies directly assessed the benefits and harms of screening. Some parent-reported screening tools for expressive language skills had reasonable accuracy for detecting expressive language delay. Group parent training programs for speech delay that provided at least 11 parental training sessions improved expressive language skills, and a stuttering intervention delivered by speech-language pathologists reduced stuttering frequency.

This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with craniofacial microsomia (CFM). A systematic search of the literature was conducted to identify records on VPI and speech impairment in CFM from their inception until September 2022 within the databases Embase, PubMed, MEDLINE, Ovid, CINAHL EBSCO, Web of Science, Cochrane, and Google Scholar. Seventeen articles were included, analysing 1,253 patients. Velopharyngeal insufficiency results in hypernasality can lead to speech impairment. The reported prevalence of both velopharyngeal insufficiency and hypernasality ranged between 12.5% and 55%, while the reported prevalence of speech impairment in patients with CFM varied between 35.4% and 74%. Language problems were reported in 37% to 50% of patients. Speech therapy was documented in 45.5% to 59.6% of patients, while surgical treatment for velopharyngeal insufficiency consisted of pharyngeal flap surgery or pharyngoplasty and was reported in 31.6% to 100%. Cleft lip and/or palate was reported in 10% to 100% of patients with CFM; these patients were found to have worse speech results than those without cleft lip and/or palate. No consensus was found on patient characteristics associated with an increased risk of velopharyngeal insufficiency and speech/language impairment. Although velopharyngeal insufficiency is a less commonly reported characteristic of CFM than other malformations, it can cause speech impairment, which may contribute to delayed language development in patients with CFM. Therefore, timely recognition and treatment of speech impairment is essential.

Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.
All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere.
Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.
Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.
https://doi.org/10.23641/asha.24424555.

Numerous disabling motor and non-motor symptoms occur during Parkinson\'s disease (PD), including speech disorders, often referred to as hypokinetic dysarthria. PD is the most common cause of this type of dysarthria. About 90% of PD patients experience hypokinetic dysarthria, which is exacerbated as the disease progresses and makes it very difficult for other people to understand the person with PD. This disorder is characterized by a monotonous speech pattern, reduced and monotonous loudness, decreased stress, a breathy or hoarse voice quality, an increase in speech rate, rapid repetition of phonemes, and impreciseness in consonant production. However, patients may also have sensory symptoms including inaccurate perceptions of their own loudness and decreased awareness of speech problems. Hypokinetic dysarthria in PD may not only result from dopamine degeneration in the nigrostriatal pathway but also from disturbances in the motor and somatosensory systems. All speech components, such as phonation, articulation, respiration, resonance, and prosody should be assessed carefully in PD patients with hypokinetic dysarthria. Taking medical history, an oral motor assessment, a perceptual evaluation of speech characteristics, intelligibility, efficiency, and participation in communication all need to be a part of the assessment. The tasks of maximum phonation time, diadochokinetic rate, reading sentences, words, and passages, describing pictures, and spontaneous speech are used to assess the features of speech components and intelligibility. The evaluation should include physiological, acoustic, or imaging modalities as well. Speech therapy is typically the main treatment of speech problems in PD. The management of PD-related hypokinetic dysarthria basically focuses on speaker-oriented and communication-oriented strategies. In addition to these strategies, Augmentative Alternative Communication (AAC) should be considered in patients with severe dysarthria. Loudness, intelligibility, and sound perception may all significantly improve with the Lee Silverman Voice Therapy LOUD (LSVT LOUD) program which is an evidence-based program. The beneficial effect of pharmacological and surgical treatment approaches has not been proven in improving speech. Deep brain stimulation may carry the risk of the deterioration of speech as the illness progresses.

The purpose of this scoping review was to (a) summarize methodological characteristics of studies examining vocal characteristics of infants at high risk for neurological speech motor involvement and (b) report the state of the high-quality evidence on vocal characteristic trends of infants diagnosed or at high risk for cerebral palsy (CP).
The PRISMA (Preferred Reporting Items of Systematic Reviews and Meta-Analyses) extension for scoping reviews was followed for reporting our review. Studies measured prelinguistic vocal characteristics of infants under 24 months with birth risk or genetic conditions known to commonly present with speech motor involvement. Fifty-five studies met criteria for Part 1. Eleven studies met criteria for synthesis in Part 2.
A smaller percentage of studies examined infants with or at risk for CP compared to studies examining genetic conditions such as Down syndrome. The median year of publication was 1999, with a median sample size of nine participants. Most studies were conducted in laboratory settings and used human coding of vocalizations produced during caregiver-child interactions. Substantial methodological differences were noted across all studies. A small number of high-quality studies of infants with or at risk for CP revealed high rates of marginal babbling, low rates of canonical babbling, and limited consonant diversity under 24 months. Mixed findings were noted across studies of general birth risk factors.
There is limited evidence available to support the early detection of speech motor involvement. Large methodological differences currently impact the ability to synthesize findings across studies. There is a critical need to conduct longitudinal research with larger sample sizes and advanced, modern technologies to detect vocal precursors of speech impairment to support the accurate diagnosis and prognosis of speech development in infants with CP and other clinical populations.

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.

OBJECTIVE: Measuring disability as a concept of impaired global function enables beneficiaries of treatment, the impact of treatment, and targets of health system investment to be rigorously assessed. Measures of disability are not well established for cleft lip and palate. This study aims to systematically review disability weight (DW) studies pertaining to orofacial clefts (OFCs) and identify methodological strengths and shortcomings of each approach.
METHODS: Systematic literature review of studies that met the following criteria: (1) peer-reviewed publication, (2) focus on disability valuation, (3) mention orofacial clefts, and (4) publication January 2001-December 2021.
METHODS: None.
METHODS: None.
METHODS: None.
METHODS: Disability weight method of valuation and the value itself.
RESULTS: The final search strategy yielded 1,067 studies. Seven manuscripts were ultimately included for data extraction. The disability weights used in our studies, including those newly generated or taken from the Global Burden of Disease Studies (GBD), ranged widely for isolated cleft lip (0.0-0.100) and cleft palate with or without cleft lip (0.0-0.269). The GBD studies limited their consideration of cleft sequelae informing disability weights to impact on appearance and speech-related concerns, while other studies accounted for comorbidities such as pain and social stigma.
CONCLUSIONS: Current measures of cleft disability are sparse, inadequately reflect the comprehensive impact of an OFC on function and socialization, and are limited in detail or supporting evidence. Use of a comprehensive health state description in evaluating disability weights offers a realistic means of accurately representing the diverse sequelae of an OFC.