-
The Journal of Maternal-fetal &... Dec 2023Nausea and vomiting affect up to 80% of all pregnancies, sometimes so severely that the condition of hyperemesis gravidarum (HG) is established. HG may in addition be a... (Review)
Review
UNLABELLED
Nausea and vomiting affect up to 80% of all pregnancies, sometimes so severely that the condition of hyperemesis gravidarum (HG) is established. HG may in addition be a predisposing factor for Wernicke encephalopathy (WE), a severe and life-threatening condition due to vitamin B1 (thiamin) deficiency. If untreated, WE may progress to Korsakoff's syndrome, an irreversible cognitive disorder. We reported a case that recently occurred at our clinic and performed a systematic review of the literature to investigate the clinical presentation, maternal and perinatal outcomes and treatment of WE in women with HG.
METHODS
We performed a systematic review of case series and case reports searching the Medline database on Pubmed from inception until December 2021. We used as search terms (Wernicke encephalopathy) OR (Wernicke-Korsakoff syndrome) AND (hyperemesis gravidarum) AND (pregnancy) AND (thiamin deficiency). Articles were considered eligible for inclusion in our review if they described at least one case of WE due to thiamin deficiency in relation to HG. An overall of 82 cases of WE due to HG in pregnancy from 66 manuscripts, including our own, were selected.
RESULTS
The maternal mean age was 26.38 ± 5.23 years, while mean gestational week at hospitalization was 14.57 ± 4.12 after a mean of 6.6 ± 3.14 weeks of vomiting duration. WE manifestation occurred at a mean gestational age of 16.54 ± 3.06 weeks. Regarding clinical presentation, ocular signs and symptoms were reported by 77/82 (93.9%) women, 61/82 (74.4%) presented with ataxia and 63/82 (76.8%) with confusion. Dysarthria affected 15/82 women (18,3%), while muscular weakness was present in 36/82 (43.9%) and impaired reflexes in 42/82 (51.2%). Memory impairment involved 25/82 (30.5%) of the study population. Almost all cases reported a thiamin administration treatment, however data regarding the clinical course of the neurological condition and the perinatal outcomes were often missing and showed a great heterogeneity when reported.
CONCLUSION
WE is a challenging diagnosis, as its clinical presentation is nonspecific. A high clinical suspicion and the awareness of its possible predisposing conditions such as HG may help clinicians to get a prompt diagnosis and starting treatment, which are vital to prevent possible life-impairing neurological sequelae.
Topics: Pregnancy; Humans; Female; Young Adult; Adult; Infant; Male; Wernicke Encephalopathy; Hyperemesis Gravidarum; Korsakoff Syndrome; Brain; Thiamine
PubMed: 37322816
DOI: 10.1080/14767058.2023.2223678 -
Tremor and Other Hyperkinetic Movements... 2023Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this... (Review)
Review
BACKGROUND
Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field.
METHODS
A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines.
RESULTS
The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited.
DISCUSSION
This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.
Topics: Humans; Chorea; Athetosis; Metabolism, Inborn Errors; Movement Disorders; Dyskinesias
PubMed: 37810989
DOI: 10.5334/tohm.801 -
Cureus Sep 2023A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive... (Review)
Review
A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive pantothenate kinase-associated neurodegeneration (PKAN). Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis. Pigmentary retinal degeneration is a widespread cause of classic PKAN. Atypical PKAN is distinguished by a later onset (>10 years), noticeable speech abnormalities, psychological disorders, and slower disease development. Studies designed to support various PKAN therapeutic strategies have highlighted the intricacy of coenzyme A (CoA) metabolism and the limitations of our present understanding of disease causation. Therefore, improvements in our knowledge of the causes and therapy of PKAN may have ramifications for our comprehension of other, more prevalent diseases. They may also shed fresh light on the physiological significance of CoA, a cofactor essential for the operation of several cellular metabolic processes. The existence of low but considerable PANK2 expression, which can be elevated in some mutations, provides necessary information that can justify using a hefty dose of pantothenate as a treatment. A more effective therapeutic approach can be achieved by comparing the effects of various currently available pharmacological alternatives on the pathophysiological alterations in fibroblasts and neuronal cells obtained from PKAN patients. The objective of this study is to educate and inform people about PKAN disease conditions such as treatment, diagnosis, and complications. These cell models will also help evaluate the effectiveness of future medicinal innovations. This review discusses the neurodegeneration generated by pantothenate kinase in cellular models, iron/lipofuscin in pantothenate kinase-related neurodegeneration, and treatment and diagnosis of PKAN.
PubMed: 37900501
DOI: 10.7759/cureus.46135 -
Laryngoscope Investigative... Aug 2023This study aimed to systematically review the associations between motor clinical phenotypes in Parkinson's disease (PD) and laryngeal disease symptoms. Laryngeal... (Review)
Review
OBJECTIVE
This study aimed to systematically review the associations between motor clinical phenotypes in Parkinson's disease (PD) and laryngeal disease symptoms. Laryngeal dysfunctions such as dysphonia and dysphagia are ubiquitous in people with Parkinson's disease (PwPD). Similar to other disease symptoms, they manifest variably across PwPD. Some of the variability within PD has been explained by clinical phenotypes. However, it is unclear how laryngeal symptoms of PD express themselves across these phenotypes.
METHODS
Five databases were searched (MEDLINE, CINAHL, Web of Science, Embase, Scopus) in May 2022. After the removal of duplicates, all retrieved records were screened. Cohort, case-control, and cross-sectional studies in English discussing laryngeal symptoms and clinical PD phenotypes were included. Data were extracted, tabulated, and assessed using Moola et al.'s (2021) appraisal tool for systematic reviews of risk and etiology.
RESULTS
The search retrieved 2370 records, representing 540 PwPD. After the removal of duplicates and screening, eight articles were included for review. The most common phenotype categories were tremor-dominant and postural-instability gait disordered (PIGD). Five studies addressed vocal characteristics, while four considered swallowing. Differences and lack of rigor in methodology across studies complicated conclusions, but a tendency for tremor-dominant phenotypes to present with less severe laryngeal symptoms was found.
CONCLUSION
Some minor differences in laryngeal function were found between tremor-dominant and PIGD phenotypes in PD. However, there is a need for more standardized and high-quality studies when comparing motor phenotypes for laryngeal function.
PubMed: 37621279
DOI: 10.1002/lio2.1112 -
Neuromodulation : Journal of the... Apr 2024Deep brain stimulation (DBS) of the subthalamic nucleus (STN) for Parkinson's disease (PD) has an ambiguous relation to speech. Speech impairment can be a... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Deep brain stimulation (DBS) of the subthalamic nucleus (STN) for Parkinson's disease (PD) has an ambiguous relation to speech. Speech impairment can be a stimulation-induced side effect, and parkinsonian dysarthria can improve with STN-DBS. Owing to the lack of an up-to-date and evidence-based approach, DBS reprogramming for speech impairment is largely blind and greatly relies on the physician's experience. In this study, we aimed to establish an evidence- and experience-based algorithm for managing speech impairment in patients with PD treated with STN-DBS.
MATERIALS AND METHODS
We performed a single-center retrospective study to identify patients with STN-DBS and speech impairment. Onset of speech impairment, lead localization, and assessment of DBS-induced nature of speech impairment were collected. When DBS settings were adjusted for improving speech, the magnitude and duration of effect were collected. We also performed a systematic literature review to identify studies describing the effects of parameter adjustments aimed at improving speech impairment in patients with PD receiving STN-DBS.
RESULTS
In the retrospective study, 245 of 631 patients (38.8%) with STN-DBS had significant speech impairment. The probability of sustained marked improvement upon reprogramming was generally low (27.9%). In the systematic review, 23 of 662 identified studies were included. Only two randomized controlled trials have been performed, providing evidence for interleaving-interlink stimulation only. Considerable methodologic heterogeneity precluded the conduction of a meta-analysis.
CONCLUSIONS
Speech impairment in STN-DBS for PD is frequent, but high-quality evidence regarding DBS parameter adjustments is scarce, and the probability of sustained improvement is low. To improve this outcome, we propose an evidence- and experience-based approach to address speech impairment in STN-DBS that can be used in clinical practice.
Topics: Humans; Speech; Parkinson Disease; Subthalamic Nucleus; Deep Brain Stimulation; Retrospective Studies; Speech Disorders
PubMed: 37452799
DOI: 10.1016/j.neurom.2023.05.002 -
JMIR Rehabilitation and Assistive... Oct 2023Speech intelligibility and speech comprehension for dysarthric speech has attracted much attention recently. Dysarthria is characterized by irregularities in the speed,... (Review)
Review
BACKGROUND
Speech intelligibility and speech comprehension for dysarthric speech has attracted much attention recently. Dysarthria is characterized by irregularities in the speed, strength, pitch, breath control, range, steadiness, and accuracy of muscle movements required for articulatory aspects of speech production.
OBJECTIVE
This study examined the contributions made by other studies involved in dysarthric speech comprehension. We focused on the modes of meaning extraction used in generalizing speaker-listener underpinnings in light of semantic ontology extraction as a desired technique, applied method types, speech representations used, and databases sourced from.
METHODS
This study involved a systematic literature review using 7 electronic databases: Cochrane Database of Systematic Reviews, Web of Science Core Collection, Scopus, PubMed, ACM, IEEE Xplore, and Google Scholar. The main eligibility criterion was the extraction of meaning from dysarthric speech using natural language processing or understanding approaches to improve on dysarthric speech comprehension. In total, out of 834 search results, 30 studies that matched the eligibility requirements were acquired following screening by 2 independent reviewers, with a lack of consensus being resolved through joint discussion or consultation with a third party. In order to evaluate the studies' methodological quality, the risk of bias assessment was based on the Cochrane risk-of-bias tool version 2 (RoB2) with 23 of the studies (77%) registering low risk of bias and 7 studies (33%) raising some concern over the risk of bias. The overall quality assessment of the study was done using TRIPOD (Transparent Reporting of a Multivariable Prediction Model for Individual Prognosis or Diagnosis).
RESULTS
Following a review of 30 primary studies, this study revealed that the reviewed studies focused on natural language understanding or clinical approaches, with an increase in proposed solutions from 2020 onwards. Most studies relied on speaker-dependent speech features, while others used speech patterns, semantic knowledge, or hybrid approaches. The prevalent use of vector representation aligned with natural language understanding models, while Mel-frequency cepstral coefficient representation and no representation approaches were applied in neural networks. Hybrid representation studies aimed to reconstruct dysarthric speech or improve comprehension. Comprehensive databases, like TORGO and UA-Speech, were commonly used in combination with other curated databases, while primary data was preferred for specific or unique research objectives.
CONCLUSIONS
We found significant gaps in dysarthric speech comprehension characterized by the lack of inclusion of important listener or speech-independent features in the speech representations, mode of extraction, and data sources used. Further research is therefore proposed regarding the formulation of models that accommodate listener and speech-independent features through semantic ontologies that will be useful in the inclusion of key features of listener and speech-independent features for meaning extraction of dysarthric speech.
PubMed: 37889538
DOI: 10.2196/44489 -
Psychology Research and Behavior... 2024Speech disorders profoundly impact the overall quality of life by impeding social operations and hindering effective communication. This study addresses the gap in... (Review)
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).
PubMed: 38835654
DOI: 10.2147/PRBM.S460283