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Molecular Genetics & Genomic Medicine Mar 2024Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1. It is characterized by intellectual... (Review)
Review
BACKGROUND
Okur-Chung neurodevelopmental syndrome (OCNDS) is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1. It is characterized by intellectual disability, developmental delay, and multisystemic abnormalities.
METHODS
We performed the whole-exome sequencing for a patient in a Chinese family. The co-segregation study using the Sanger sequencing method was performed among family members. Reverse transcription and quantitative real-time polymerase chain reaction were carried out using total RNA from blood samples of the proband and wild-type control subjects. A review of patients with OCNDS harboring CSNK2A1 pathogenic variants was conducted through a comprehensive search of the PubMed database.
RESULTS
We identified a novel CSNK2A1 frameshift variant p.Tyr323Leufs*16 in a Chinese family. The proband, a 31-year-old female, presented with abnormal eating habits, recurrent seizures, language impairment, and intellectual disability. Her mother exhibited postnatal hernias, splenomegaly, and a predisposition to infections, but showed no significant developmental impairments or intellectual disability. Genetic studies revealed the presence of this variant in CSNK2A1 in both the proband and her mother. Transcription analysis revealed this variant may lead to nonsense-mediated mRNA decay, suggesting haploinsufficiency as a potential disease mechanism. We reviewed 47 previously reported OCNDS cases and discovered that individuals carrying CSNK2A1 null variants may exhibit a diminished frequency of symptoms linked to language deficits, dysmorphic facial features, or intellectual disability, consequently presenting an overall milder phenotype when compared to those with missense variants.
CONCLUSION
We report a novel frameshift variant, p.Tyr323Leufs*16, in an OCNDS family with a generally mild phenotype. This study may broaden the spectrum of clinical presentations associated with OCNDS and contribute novel insights into the genotype-phenotype correlation of this condition.
Topics: Adult; Female; Humans; Asian People; Databases, Factual; Genotype; Intellectual Disability; Phenotype
PubMed: 38444259
DOI: 10.1002/mgg3.2398 -
BMJ Paediatrics Open Mar 2024Pyrethroid-based mosquito repellents are widely used to control mosquito-borne diseases. Liquid mosquito-repellent vaporisers are effective modes of pyrethroid delivery...
BACKGROUND
Pyrethroid-based mosquito repellents are widely used to control mosquito-borne diseases. Liquid mosquito-repellent vaporisers are effective modes of pyrethroid delivery but can also pose significant health risks if ingested or used improperly.
OBJECTIVE
This systematic review was performed to assess the demographic distribution, clinical presentation, management strategies and outcomes in children resulting from accidental ingestion of liquid mosquito repellent vaporiser.
METHODS
The study adheres to the reporting standards outlined in the PRISMA Statement for Systematic Reviews and was prospectively registered with PROSPERO (record # CRD42023413937) to enhance transparency and minimise reporting bias. A comprehensive search was conducted on PubMed, Scopus and Google Scholar using specific MeSH terms related to insecticides, mosquito repellents, pyrethroids, ingestion, poisoning, toxicity and prevention. The reference lists of the included studies were also reviewed for additional relevant articles. The inclusion criteria involved studies published in peer-reviewed journals between 2000 and 2023 that focused on children under 18 years old with a history of mosquito-repellent ingestion based on primary data.
RESULTS
Twelve studies met the inclusion criteria; these were primarily case reports from India, China and the UAE. Male children were predominantly affected, and symptoms included vomiting, convulsions, cough and respiratory distress. Management primarily involved supportive and symptomatic measures, including atropine for salivation and antiepileptic drugs for seizures. Respiratory support was provided for respiratory complications.
CONCLUSION
Despite the known risks and diverse presentations of pyrethroid poisoning caused by liquid mosquito repellent vaporiser in children, the limited substantial evidence in the literature underscores the urgent need for comprehensive research to refine management approaches and enhance preventive measures.
Topics: Child; Animals; Humans; Male; Adolescent; Insect Repellents; Insecticides; Pyrethrins; Nebulizers and Vaporizers; Eating
PubMed: 38555100
DOI: 10.1136/bmjpo-2023-002476 -
Journal of Psychiatric Research May 2024Deep transcranial magnetic stimulation (dTMS) has gained attention as an enhanced form of traditional TMS, targeting broader and deeper regions of the brain. However, a... (Review)
Review
Deep transcranial magnetic stimulation (dTMS) has gained attention as an enhanced form of traditional TMS, targeting broader and deeper regions of the brain. However, a fulsome synthesis of dTMS efficacy across psychiatric and cognitive disorders using sham-controlled trials is lacking. We systematically reviewed 28 clinical trials comparing active dTMS to a sham/controlled condition to characterize dTMS efficacy across diverse psychiatric and cognitive disorders. A comprehensive search of APA PsycINFO, Cochrane, Embase, Medline, and PubMed databases was conducted. Predominant evidence supports dTMS efficacy in patients with obsessive-compulsive disorder (OCD; n = 2), substance use disorders (SUDs; n = 8), and in those experiencing depressive episodes with major depressive disorder (MDD) or bipolar disorder (BD; n = 6). However, the clinical efficacy of dTMS in psychiatric disorders characterized by hyperactivity or hyperarousal (i.e., attention-deficit/hyperactivity disorder, posttraumatic stress disorder, and schizophrenia) was heterogeneous. Common side effects included headaches and pain/discomfort, with rare but serious adverse events such as seizures and suicidal ideation/attempts. Risk of bias ratings indicated a collectively low risk according to the Grading of Recommendations, Assessment, Development, and Evaluations checklist (Meader et al., 2014). Literature suggests promise for dTMS as a beneficial alternative or add-on treatment for patients who do not respond well to traditional treatment, particularly for depressive episodes, OCD, and SUDs. Mixed evidence and limited clinical trials for other psychiatric and cognitive disorders suggest more extensive research is warranted. Future research should examine the durability of dTMS interventions and identify moderators of clinical efficacy.
PubMed: 38759496
DOI: 10.1016/j.jpsychires.2024.05.011 -
Journal of Neuro-oncology Feb 2024Brain tumours are associated with neurocognitive impairments that are important for safe driving. Driving is vital to maintaining patient autonomy, despite this there is... (Review)
Review
PURPOSE
Brain tumours are associated with neurocognitive impairments that are important for safe driving. Driving is vital to maintaining patient autonomy, despite this there is limited research on driving capacity amongst patients with brain tumours. The purpose of this review is to examine MVC risk in patients with brain tumours to inform development of clearer driving guidelines.
METHODS
A systematic review was performed using Medline and EMBASE. Observational studies were included. The outcome of interest was MVC or measured risk of MVC in patients with benign or malignant brain tumours. Descriptive analysis and synthesis without meta-analysis were used to summarise findings. A narrative review of driving guidelines from Australia, United Kingdom and Canada was completed.
RESULTS
Three studies were included in this review. One cohort study, one cross-sectional study and one case-control study were included (19,135 participants) across United States and Finland. One study evaluated the incidence of MVC in brain tumour patients, revealing no difference in MVC rates. Two studies measured MVC risk using driving simulation and cognitive testing. Patients found at higher risk of MVC had greater degrees of memory and visual attention impairments. However, predictive patient and tumour characteristics of MVC risk were heterogeneous across studies. Overall, driving guidelines had clear recommendations on selected conditions like seizures but were vague surrounding neurocognitive deficits.
CONCLUSION
Limited data exists regarding driving behaviour and MVC incidence in brain tumour patients. Existing guidelines inadequately address neurocognitive complexities in this group. Future studies evaluating real-world data is required to inform development of more applicable driving guidelines.
SYSTEMATIC REVIEW REGISTRATION NUMBER
PROSPERO 2023 CRD42023434608.
Topics: Humans; United States; Accidents, Traffic; Cohort Studies; Case-Control Studies; Cross-Sectional Studies; Motor Vehicles; Brain Neoplasms
PubMed: 38321326
DOI: 10.1007/s11060-024-04586-6 -
Cureus Mar 2024Febrile seizures (FS) are commonly seen in younger age groups. The cause of seizures is multifactorial, including viral illnesses, certain vaccines such as MMR (measles,... (Review)
Review
Febrile seizures (FS) are commonly seen in younger age groups. The cause of seizures is multifactorial, including viral illnesses, certain vaccines such as MMR (measles, mumps, rubella), family history of FS, and certain mineral deficiencies like zinc. Iron deficiency anemia (IDA) is the most common cause of anemia in children of the same age group. The systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. This review aimed to investigate the correlation between IDA and fever convulsions. A systematic literature search was conducted using PubMed and Google Scholar databases for studies published between January 2013 and September 2023. The following keywords were used to search the articles: "children", "febrile seizures", and "iron deficiency anemia", using all possible combinations and using the word "and" between them. Following the inclusion and exclusion criteria application, we included 23 case-control studies written in the English language in this study. Quality assessment of studies was done using the Newcastle Ottawa Scale.
PubMed: 38638769
DOI: 10.7759/cureus.56470 -
Neurologia I Neurochirurgia Polska 2024Drug-resistant epilepsy (DRE) remains poorly-controlled in c.33% of patients, and up to 50% of patients suffering from DRE are deemed not to be suitable candidates for... (Review)
Review
INTRODUCTION
Drug-resistant epilepsy (DRE) remains poorly-controlled in c.33% of patients, and up to 50% of patients suffering from DRE are deemed not to be suitable candidates for resective surgery. For these patients, deep brain stimulation (DBS) may constitute the last resort in the treatment of DRE.
STATE OF THE ART
We undertook a systematic review of the current literature on DBS efficacy and the safety of two thalamic nuclei-anterior nucleus of the thalamus (ANT) and the centromedian nucleus of the thalamus in the management of patients with DRE. A search using two electronic databases, the Medical Literature, Analysis, and Retrieval System on-line (MEDLINE) and the Cochrane Central Register of Controlled Trials (CEN-TRAL) was conducted.
CLINICAL IMPLICATIONS
We found 30 articles related to ANT DBS and 13 articles related to CMN DBS which were further analysed. Based on the clinical research articles, we found a mean seizure frequency reduction for both thalamic nuclei. For ANT DBS, the mean seizure frequency reduction ranged from 48% to 75%, and for CMN DBS from 46.7% to 91%. The responder rate (defined as at least 50% reduction in seizure frequency) was reported to be 53.2-75% for patients after ANT DBS and 50-90% for patients after CMN DBS.
FUTURE DIRECTIONS
ANT and CMN DBS appear to be safe and efficacious treatments, particularly in patients with refractory partial seizures and primary generalised seizures. ANT DBS reduces most effectively seizures originating in the temporal and frontal lobes. CMN DBS reduces mostly primary generalised tonic-clonic and atypical absences and atonic seizures. Seizures related to Lennox-Gastaut syndrome respond very favourably to CMN DBS.
Topics: Humans; Deep Brain Stimulation; Drug Resistant Epilepsy; Anterior Thalamic Nuclei; Intralaminar Thalamic Nuclei; Treatment Outcome
PubMed: 38864766
DOI: 10.5603/pjnns.98258 -
Journal of Clinical Medicine Jan 2024In children and adolescents with epilepsy, neurodevelopmental comorbidities can impair the quality of life more than seizures. The aim of this review was to evaluate the... (Review)
Review
In children and adolescents with epilepsy, neurodevelopmental comorbidities can impair the quality of life more than seizures. The aim of this review was to evaluate the cognitive and behavioural effects of perampanel (PER) in the paediatric population. We performed a systematic search of the literature, selecting studies published in English including children and adolescents with epilepsy treated with PER. Cognitive and behavioural outcomes were assessed through validated neuropsychological standardised scales. Eighteen studies involving 3563 paediatric patients were included. Perampanel did not impair general cognitive functions and visuospatial skills, whereas a slight improvement in verbal memory and a decline in attentional power were detected. In adolescents with refractory epilepsies, high doses and/or rapid titration of PER and an underlying psychiatric disorder were risk factors for developing or worsening psychiatric outcomes such as anger, aggressiveness, and irritability. Data on children and adolescents treated with new antiseizure medications are scant, and neuropsychiatric effects are tricky to be detected during developmental age. According to the currently available evidence, PER showed an overall favourable risk-benefit profile. Pharmacodynamics, co-administration of other antiseizure medications, and family and personal history of neuropsychiatric disorders should be considered before PER treatment.
PubMed: 38256507
DOI: 10.3390/jcm13020372 -
European Journal of Medical Research Mar 2024Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of... (Review)
Review
BACKGROUND
Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system. This systematic literature review aimed to explore the effect of MLD on the lives of patients.
METHODS
The Ovid platform was used to search Embase, MEDLINE, and the Cochrane Library for articles related to the natural history, clinical outcomes, and burden of illness of MLD; congress and hand searches were performed using 'metachromatic leukodystrophy' as a keyword. Of the 531 publications identified, 120 were included for data extraction following screening. A subset of findings from studies relating to MLD natural history and burden of illness (n = 108) are presented here.
RESULTS
The mean age at symptom onset was generally 16-18 months for late-infantile MLD and 6-10 years for juvenile MLD. Age at diagnosis and time to diagnosis varied widely. Typically, patients with late-infantile MLD presented predominantly with motor symptoms and developmental delay; patients with juvenile MLD presented with motor, cognitive, and behavioral symptoms; and patients with adult MLD presented with cognitive symptoms and psychiatric and mood disorders. Patients with late-infantile MLD had more rapid decline of motor function over time and lower survival than patients with juvenile MLD. Commonly reported comorbidities/complications included ataxia, epilepsy, gallbladder abnormalities, incontinence, neuropathy, and seizures.
CONCLUSIONS
Epidemiology of MLD by geographic regions, quantitative cognitive data, data on the differences between early- and late-juvenile MLD, and humanistic or economic outcomes were limited. Further studies on clinical, humanistic (i.e., quality of life), and economic outcomes are needed to help inform healthcare decisions for patients with MLD.
Topics: Adult; Humans; Leukodystrophy, Metachromatic; Quality of Life; Cost of Illness
PubMed: 38494502
DOI: 10.1186/s40001-024-01771-1 -
Seizure Jul 2024Psychological interventions are the most recommended treatment for functional/dissociative seizures (FDS); however, there is ongoing uncertainty about their... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Psychological interventions are the most recommended treatment for functional/dissociative seizures (FDS); however, there is ongoing uncertainty about their effectiveness on seizure outcomes.
METHODS
This systematic review and meta-analysis synthesises the available data. In February 2023, we completed a systematic search of four electronic databases. We described the range of seizure-related outcomes captured, used meta-analytic methods to analyse data collected during treatment and follow-up; and explored sources of heterogeneity between outcomes.
RESULTS
Overall, 44 relevant studies were identified involving 1,300 patients. Most were categorised as being at high (39.5 %) or medium (41.9 %) risk of bias. Seizure frequency was examined in all but one study; seizure intensity, severity or bothersomeness in ten; and seizure duration and cluster in one study each. Meta-analyses could be performed on seizure freedom and seizure reduction. A pooled estimate for seizure freedom at the end of treatment was 40 %, while for follow-up it was 36 %. Pooled rates for ≥50 % improvement in seizure frequency were 66 % and 75 %. None of the included moderator variables for seizure freedom were significant. At the group level, seizure frequency improved during the treatment phase with a moderate pooled effect size (d = 0.53). FDS frequency reduced by a median of 6.5 seizures per month. There was also evidence of improvement of the other (non-frequency) seizure-related measures with psychological therapy, but data were insufficient for meta-analysis.
CONCLUSIONS
The findings of this study complement a previous meta-analysis describing psychological treatment-associated improvements in non-seizure-related outcomes. Further research on the most appropriate FDS-severity measure is needed.
Topics: Adult; Humans; Dissociative Disorders; Psychotherapy; Seizures; Treatment Outcome
PubMed: 38824867
DOI: 10.1016/j.seizure.2024.05.016 -
Pediatric Research Feb 2024This meta-analysis aimed to identify the near- and long-term neurodevelopmental prognoses of preterm or low birth weight (LBW) infants with different severities of... (Meta-Analysis)
Meta-Analysis
BACKGROUND
This meta-analysis aimed to identify the near- and long-term neurodevelopmental prognoses of preterm or low birth weight (LBW) infants with different severities of intraventricular hemorrhage (IVH).
METHODS
Four databases were searched for observational studies that were qualified using the Newcastle-Ottawa Scale.
RESULTS
37 studies involving 32,370 children were included. Compared to children without IVH, children with mild IVH had higher incidences of neurodevelopmental impairment (NDI), cerebral palsy (CP), motor/cognitive delay, hearing impairment and visual impairment, as well as lower scores of the mental development index (MDI) and psychomotor development (PDI). Moreover, compared to mild IVH, severe IVH increased susceptibilities of children to NDI, motor delay, CP, hearing impairment and visual impairment, with worse performances in MDI, PDI, motor score and IQ. Mild IVH was not associated with seizures or epilepsy.
CONCLUSIONS
Adverse neurodevelopmental outcomes positively associated with the occurrence and severity of IVH in preterm or LBW infants, providing evidence for counseling and further decisions regarding early therapeutic interventions.
IMPACT
Adverse neurodevelopmental outcomes later in life were closely associated with the occurrence and severity of IVH in preterm or LBW infants. Our results highlight the importance to make prediction of the neurodevelopmental outcomes of children born preterm or LBW with a history of IVH, which will guide affected parents when their children need clinical interventions to reach the full potential. We emphasize the importance of identifying specific developmental delays that may exist in children with IVH, providing detailed information for the development of comprehensive intervention measures.
Topics: Infant, Newborn; Infant; Child; Humans; Infant, Premature; Infant, Premature, Diseases; Infant, Low Birth Weight; Cerebral Hemorrhage; Cerebral Palsy; Hearing Loss; Vision Disorders
PubMed: 37935882
DOI: 10.1038/s41390-023-02877-8