Sensory Disorders Research Articles

The effectiveness of a training program using sensory integration to reduce sensory processing disorder and its effect on echolalia in children with autism spectrum disorder

The effectiveness of a training program using sensory integration to reduce sensory processing disorder and its effect on echolalia in children with autism spectrum disorder

Ketamine and α-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic Acid (AMPA) Receptor Potentiation in the Somatosensory Cortex: A Comprehensive Review.

Ketamine, a dissociative anesthetic primarily recognized for its antagonism of N-methyl-D-aspartate (NMDA) receptors, has gained significant attention for its rapid antidepressant effects and potential in treating mood disorders. However, recent research indicates that ketamine's influence extends beyond NMDA receptor inhibition, affecting α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors and sensory processing. This review delves into ketamine's role in enhancing AMPA receptor function and its implications for sensory processing within the somatosensory cortex. AMPA receptors, essential for fast excitatory neurotransmission and synaptic plasticity, play a key role in sensory perception and integration. By examining preclinical and clinical studies, this review sheds light on how ketamine's modulation of AMPA receptors may improve sensory processing and contribute to its therapeutic effects. Additionally, the review explores the potential for ketamine-based therapies to treat sensory processing disorders and refine current treatment strategies. A deeper understanding of ketamine's complex effects on AMPA receptors and sensory processing could provide valuable insights for developing targeted interventions and advancing clinical applications.

COST OF ILLNESS ANALYSIS OF EPILEPSY OUTPATIENTS USING VALPROIC ACID, PHENYTOIN AND CARBAMAZEPINE THERAPY IN HOSPITAL IN INDONESIA

Epilepsy is a condition of the onset of attacks in the form of abnormal, irregular brain nerve cell movements, occurring repeatedly and causing temporary motor, sensory or mental function disorders. The treatment of epilepsy has costs that must be known, including direct medical costs, indirect medical costs, and indirect costs; this study aims to determine the cost of illness of epilepsy in one hospital in banyuasin regency with retrospective costing in outpatients. The research method used in this study is a cross-sectional study using patient medical record data and cost data taken from BPJS claims data and hospital rate patterns. This study uses the BPJS perspective and societal perspective, the cost data taken from the BPJS perspective is the result of BPJS claims according to the INACBGs. Package tariff and for the socital perspective the data taken is doctor consultation data, administrative costs, laboratory costs, drug costs and transportation costs and lost productivity costs carried out by interview method for 12 months. The results of this study indicate that the cost of epilepsy outpatients from a societal perspective is Rp.3,141,414 and for BPJS perspective is Rp.2,338,567.

Using Urine Biomarkers to Differentiate Bladder Dysfunctions in Women with Sensory Bladder Disorders.

Sensory bladder disorders encompass several distinct conditions with overlapping symptoms, which pose diagnostic challenges. This study aimed to evaluate urine biomarkers for differentiating between various sensory bladder disorders, including non-Hunner's interstitial cystitis (NHIC), detrusor overactivity (DO), hypersensitive bladder (HSB), and urodynamically normal women. A retrospective analysis of 191 women who underwent a videourodynamic study (VUDS) was conducted, with some also receiving cystoscopic hydrodistention to confirm the presence of NHIC. Participants were categorized into four groups: DO (n = 51), HSB (n = 29), NHIC (n = 81), and normal controls (n = 30). The urine levels of inflammatory and oxidative stress biomarkers were measured. The DO patients exhibited elevated IP-10 levels, while the HSB patients had decreased TAC and 8-OHdG levels. The NHIC patients showed lower IL-2 and higher TNF-α levels. A TNF-α ≥ 1.05 effectively identified NHIC, with an AUROC of 0.889, a sensitivity of 98.8%, and a specificity of 81.3%. An IP-10 ≥ 6.31 differentiated DO with an AUROC of 0.695, a sensitivity of 56.8%, and a specificity of 72.3%. An 8-OHdG ≤ 14.705 and a TAC ≤ 528.7 identified HSB with AUROCs of 0.754 and 0.844, respectively. The combination of 8-OHdG and TAC provided an AUROC of 0.853 for HSB. These findings suggest that TNF-α, IP-10, TAC, 8-OHdG, and IL-2 are promising non-invasive biomarkers for distinguishing between these conditions, which may improve diagnosis and management.

Clinical Outcome after Endoscopic Facet Denervation in Patients with Chronic Low Back Pain.

Several studies have reported that low back pain has a high prevalence among the population, with up to 85%. Percutaneous radiofrequency facet denervation (PRFD) is the gold standard of today's rhizotomy for chronic low back pain (CLBP). However, previously published studies present controversial results for the efficacy of PRFD. Therefore, this study aimed to analyse the use of endoscopic facet joint denervation (EFJD) to treat chronic low back pain and to identify potential risk factors that could limit indications for surgery.We retrospectively included 31 eligible patients into the study with at least 24 months of CLBP. All patients underwent EFJD and had to complete ODI, COMI, EQ-5D and VRS scores postoperatively, with a minimum follow up of 12 months. Basic patient data was recorded to analyse correlations.We found a significant improvement in all clinical scores measured, such as ODI, COMI, EQ-5D and VRS scores. While the best result was found at the 3 months follow-up, a slight deterioration was found at 12 months follow-up. However, significant benefit was observed when compared to preoperative scores. 28/31 patients (93.3%) reported reduced pain at 12 months follow-up and were satisfied with the procedure. Older age and psychiatric precondition were identified as potential risk factors associated with poorer outcome. Postoperative complications such as haematoma, a sensibility disorder and temporary low extremity muscular weakness were rarely observed.EFJD showed significant improvement of the clinical outcome scores and VRS when compared to preoperative results of patients, with a minimum of 12 months of CLBP prior to surgery. Older patients and patients with a psychiatric precondition seem to benefit less from the procedure.

Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort.

Hearing loss is a common sensory disorder that impacts patients across the lifespan. Many genetic variants have been identified that contribute to non-syndromic hearing loss. Yet, genetic testing is not routinely administered when hearing loss is diagnosed, particularly in adults. In this study, genetic testing was completed in patients with known hearing loss. A total of 104 patients who were evaluated for hearing loss were enrolled and received genetic testing. Of those 104 patients, 39 had available genetic testing, 20 had one missing allele, and 45 yielded no genetic diagnosis. Of the 39 cases with genetic testing data, 24 were simplex cases, and 15 were multiplex cases. A majority of patients presented with an autosomal recessive inheritance pattern (n = 32), 26 of whom presented with congenital hearing loss. 38% of cases were positive for GJB2 mutation with c.35delG being the most common pathogenic variant. These findings are consistent with previous literature suggesting GJB2 mutations are the most common causes of non-syndromic hearing loss. Given the frequency of genetic variants in patients with hearing loss, genetic testing should be considered a routine part of the hearing loss work-up, particularly as gene therapies are studied and become more widely available. Many genetic variants have been identified that contribute to non-syndromic hearing loss. Given the frequency of genetic variants in patients with hearing loss, genetic testing should be considered a routine part of the hearing loss work-up.

Genetic analysis of TRIOBP and MYO15A variants in Iranian families with autosomal recessive non-syndromic hearing loss

BackgroundDeafness is a prevalent sensory and neurological disorder that impacts over 466 million individuals globally. Congenital deafness is the most prevalent birth defect, occurring in approximately 2–3 out of every 1000 births. It is recognized as a highly diverse condition. >50% of congenital deafness has genetic causes and the rest is due to environmental causes or both. With the development of next-generation sequencing and bioinformatics tools, whole-exome sequencing has been proposed as one of the effective methods for diagnosing genetics of hearing loss. MethodFive Iranian Autosomal recessive non-syndromic hearing loss (ARNSHL) families negative for GJB2 (NM_004004.6) gene mutations from Sistan and Baluchestan province were selected for further study by whole-exome sequencing analysis. The analysis procedure was performed using multiple bioinformatics tools and websites after filling the consent form and extracting DNA from whole blood using the salting out method. After detecting the variants in priority and confirming them in the probands by Sanger sequencing, other family members were studied to confirm the variant within the family. ResultsAfter analyzing the families recruited for this study, four known genes along with known and novel variants were discovered. Mutations found in the MYO15A, SLC26A4, TRIOBP and TECTA genes among which, the variants found in TRIOBP (NM_001039141.3, p.R283X) and MYO15A (NM_016239.4, p.P2880Rfs*19) were novel. Other known variants were TECTA (NM_005422.4, p.W1534X) and SLC26A4 (NM_000441.2, p.V239D). No genes or variants that might contribute to hearing loss have been identified within one of the families. ConclusionOur study's findings support previous research that has identified SLC26A4, MYO15A, and TECTA genes as common genetic factors following GJB2 in our population.

Three cases of occupational chronic chloropropene poisoning

Chronic chloropropene poisoning is a disease mainly caused by peripheral nerve damage due to close contact with chloropropene in industrial production, its clinical manifestations include varying degrees of sensory, motor, or tendon reflex disorders in the distal limbs, and neuromyography can show neurogenic damage. This article analyzed and summarized the clinical characteristics, diagnosis and treatment methods of three patients with occupational chronic chloropropene poisoning, in order to enhance the clinical understanding of occupational chronic chloropropene poisoning and provide reference for clinical diagnosis and treatment.

Sound-seeking before and after hearing loss in mice

How we move our bodies affects how we perceive sound. For instance, head movements help us to better localize the source of a sound and to compensate for asymmetric hearing loss. However, many auditory experiments are designed to restrict head and body movements. To study the role of movement in hearing, we developed a behavioral task called sound-seeking that rewarded freely moving mice for tracking down an ongoing sound source. Over the course of learning, mice more efficiently navigated to the sound. Next, we asked how sound-seeking was affected by hearing loss induced by surgical removal of the malleus from the middle ear. After bilateral hearing loss sound-seeking performance drastically declined and did not recover. In striking contrast, after unilateral hearing loss mice were only transiently impaired and then recovered their sound-seek ability over about a week. Throughout recovery, unilateral mice increasingly relied on a movement strategy of sequentially checking potential locations for the sound source. In contrast, the startle reflex (an innate auditory behavior) was preserved after unilateral hearing loss and abolished by bilateral hearing loss without recovery over time. In sum, mice compensate with body movement for permanent unilateral damage to the peripheral auditory system. Looking forward, this paradigm provides an opportunity to examine how movement enhances perception and enables resilient adaptation to sensory disorders.

Pain and sensory disorders after removal of mandibular third molars

Pain and sensory disorders after removal of mandibular third molars

Novel PTPRQ variants associated with hearing loss in a Chinese family PTPRQ variants in Chinese hearing loss.

Hearing loss is one of the most prevalent congenital sensory disorders. Over 50% of congenital hearing loss cases are attributed to genetic factors. The PTPRQ gene encodes the protein tyrosine phosphatase receptor Q, which plays an important role in maintaining the structure and function of the stereocilia of hair cells. Variants in the PTPRQ gene have been implicated in hereditary sensorineural hearing loss. Utilizing next-generation sequencing technology, we identified novel compound heterozygous variants (c.977G>A:p.W326X and c.6742C>T:p.Q2248X) in the PTPRQ gene within a Chinese national lineage, marking the first association of these variants with hereditary sensorineural hearing loss. Our findings further emphasize the critical role of PTPRQ in auditory function and contribute to a more comprehensive understanding of PTPRQ-associated hearing loss mechanisms, aiding in clinical management and genetic counseling.

The Application Of Medication And Strategies For The Implementation Of Hallucinations In Tn. S (Terra Neutral Separated) With A Nursing Diagnosis Of Sensory Perception Disorders (Hallucinations)

Hallucinations are sensory perception disorders that attack the five senses, where a person perceives an object or image and thoughts that do not occur or are not real. Hallucinations include sound, sight, taste, touch, or smell sensations without real stimulus. Treatment for patients with hallucinations is by identifying the type of hallucination, applying medication, and implementing strategies to distract or overcome the hallucinations experienced. The objectives of this study include (1) Describing problems regarding sensory perception disorders and (2) Describing and implementing nursing care in cases of mental disorders with a medical diagnosis of schizophrenia at Soerojo Hospital Magelang. This study uses a qualitative approach with case studies as the primary method, using observation sheets, interviews, and documentation studies. The subject of this study used one patient, Mr S, who had a nursing diagnosis of sensory perception disorders at RSD Soerojo Hospital Magelang. Nursing care for patient Mr S with a diagnosis of sensory perception disorder (hallucinations) in this case showed success as indicated by the signs and symptoms experienced by the patient decreasing. After four days of intervention, the patient was able to overcome hallucinations by scolding, interacting with the surrounding environment, and taking care of himself by bathing and dressing more neatly.

Approach to gait disorders and orthotic management in adult onset neuromuscular diseases.

In order to understand abnormal gait, this article will first review normal gait, discuss how neuromuscular diseases disturb gait patterns and review orthotic interventions. In normal gait, concentric contractions accelerate and eccentric contractions decelerate the limb. Neuromuscular gait disorders can be grouped into (1) proximal weakness, (2) distal weakness, (3) nonlength-dependent or generalized weakness, (4) asymmetric weakness, and (5) sensory disorders. Identification of gait disturbance type in neuromuscular diseases leads to the appropriate orthotic prescription since orthotic strategies are grouped into (1) proximal weakness, (2) distal weakness, and (3) sensory disturbances. Orthotics is not indicated in all types of gait disturbance. Weakness in proximal hip musculature can be managed with gait aids such as walkers. In contrast, distal muscle weakness can be managed with orthotics. Preservation of gait assists in maintenance of daily function and integration in society.

Clinical and neuroimaging precursors in cerebral amyloid angiopathy: impact of the Boston criteria version 2.0.

Although the Boston criteria version 2.0 facilitates the sensitivity of cerebral amyloid angiopathy (CAA) diagnosis, there are only limited data about precursor symptoms. This study aimed to determine the impact of neurological and imaging features in relation to the time of CAA diagnosis. Patients diagnosed with probable CAA according to the Boston criteria version 1.5, treated between 2010 and 2020 in our neurocentre, were identified through a keyword search in our medical database. Neuroimaging was assessed using Boston criteria versions 1.5 and 2.0. Medical records with primary focus on the clinical course and the occurrence of transient focal neurological episodes were prospectively evaluated. Thirty-eight out of 81 patients (46.9%) exhibited transient focal neurological episodes, most often sensory (13.2%) or aphasic disorders (13.2%), or permanent deficits at a mean time interval of 31.1 months (SD ±26.3; range 1-108 months) before diagnosis of probable CAA (Boston criteria version 1.5). If using Boston criteria version 2.0, all patients receiving magnetic resonance imaging (MRI) met the criteria for probable CAA, and diagnosis could have been made on average 44 months earlier. Four patients were younger than 50 years, three of them with supporting pathology. Cognitive deficits were most common (34.6%) at the time of diagnosis. Non-haemorrhagic MRI markers enhance the sensitivity of diagnosing probable CAA; however, further prospective studies are proposed to establish a minimum age for inclusion. As the neurological overture of CAA may occur several years before clinical diagnosis, early clarification by MRI including haemosensitive sequences are suggested.

Management of split cord malformation and tethered cord syndrome: Experience of a main referral center in Uzbekistan

BackgroundSplit cord malformation and tethered cord syndrome are challenging pathologies in the pediatric population. During 2016–2022, 56 cases of split cord malformation (SCM) and tethered cord syndrome were treated at the Republican Specialized Scientific Medical Practical Center of Neurosurgery (RSSMPCN) of Uzbekistan. This article aims to provide a retrospective analysis of the clinical presentation, radiological findings, and surgical outcomes of patients with split cord malformation and tethered cord syndrome. MethodsThe retrospective study was conducted for 56 pediatric patients with split cord malformation and tethered cord syndrome during the abovementioned six-year period. All patients underwent MR imaging with computed tomography, followed by surgery with intraoperative neurophysiological monitoring. Each patient underwent follow-up examinations at 3 and 6 months postoperatively and yearly thereafter. ResultsThe mean patient age was 5.7 years (10 months to 15 years), and the male-to-female ratio was 1:2.2. Encouragingly, 44 (78.6 %) of the 56 patients showed improved neurological status postoperatively. Even in the cases where spur resection procedures were performed, there was partial neurological improvement, demonstrating the overall positive outcomes of the surgeries. Importantly, none of the 56 patients had neurological deteriorations in the postoperative period ConclusionsSplit cord malformation is a rare but challenging pathology of childhood. The presentation is primarily characterized by movement, sensory or bowel disorders, and back and leg pain. This underscores the importance of early recognition and intervention when neurological symptoms are evident. Surgical intervention, as demonstrated in our study, is both appropriate and efficient in improving the neurological status of the patients.

Prevalence of Developmental, Psychiatric, and Neurologic Conditions in Older Siblings of Children with and without Autism Spectrum Disorder: Study to Explore Early Development.

This study evaluated developmental, psychiatric, and neurologic conditions among older siblings of children with and without autism spectrum disorder (ASD) to understand the extent of familial clustering of these diagnoses. Using data from the Study to Explore Early Development, a large multi-site case-control study, the analyses included 2,963 children aged 2-5 years with ASD, other developmental disabilities (DD group), and a population-based control group (POP). Percentages of index children with older siblings with select developmental, psychiatric, and neurologic conditions were estimated and compared across index child study groups using chi-square tests and multivariable modified Poisson regression. In adjusted analyses, children in the ASD group were significantly more likely than children in the POP group to have one or more older siblings with ASD, developmental delay, attention-deficit/hyperactivity disorder, intellectual disability, sensory integration disorder (SID), speech/language delays, or a psychiatric diagnosis (adjusted prevalence ratio [aPR] range: 1.4-3.7). Children in the DD group were significantly more likely than children in the POP group to have an older sibling with most of the aforementioned conditions, except for intellectual disability and psychiatric diagnosis (aPR range: 1.4-2.2). Children in the ASD group were significantly more likely than children in the DD group to have one or more older siblings with ASD, developmental delay, SID, or a psychiatric diagnosis (aPR range: 1.4-1.9). These findings suggest that developmental disorders cluster in families. Increased monitoring and screening for ASD and other DDs may be warranted when an older sibling has a DD diagnosis or symptoms.

Clinical and molecular characteristics of Kabuki syndrome patients with missense variants-novel features and literature review.

Kabuki Syndrome (KS) encompasses a spectrum of clinical manifestations, primarily attributed to pathogenic variants in the KMT2D gene. This study aims to elucidate novel features in KS patients with missense variants, contrasting their presentation with both literature-reported cases of patients with missense pathogenic variants as well as other KS patients with truncating pathogenic variants. Employing a survey questionnaire and clinical evaluations, we examined ten KS patients with missense variants, focusing on their dysmorphism characteristics, behavior and psychomotor development. We identified unique features in missense variant patients, including foot hyperesthesia, musicality, and sensory integration disorders. Notably, despite similarities in developmental trajectories, distinct phenotypic traits emerged in missense variant cases, suggesting a potential genotype-phenotype correlation. These findings contribute to a deeper understanding of KS heterogeneity and underscore the importance of genotype-specific characterization for prognostic and therapeutic considerations. Further exploration of genotype-phenotype relationships promises to refine clinical management strategies and enhance patient outcomes in this complex syndrome.

The Role and Function of TRPM8 in the Digestive System.

Transient receptor potential (TRP) melastatin member 8 (TRPM8) is a non-selective cation channel that can be activated by low temperatures (8-26 °C), cooling agents (including menthol analogs such as menthol, icilin, and WS-12), voltage, and extracellular osmotic pressure changes. TRPM8 expression has been identified in the digestive system by several research teams, demonstrating its significant involvement in tissue function and pathologies of the digestive system. Specifically, studies have implicated TRPM8 in various physiological and pathological processes of the esophagus, stomach, colorectal region, liver, and pancreas. This paper aims to comprehensively outline the distinct role of TRPM8 in different organs of the digestive system, offering insights for future mechanistic investigations of TRPM8. Additionally, it presents potential therapeutic targets for treating conditions such as digestive tract inflammation, tumors, sensory and functional disorders, and other related diseases. Furthermore, this paper addresses the limitations of existing studies and highlights the research prospects associated with TRPM8.

Mobility, driving, and functional competence in older people-selected results from the Longitudinal Urban Cohort Ageing Study (LUCAS)

Mobility is crucial for independent living in old age. Older people with reduced physical ability (frailty) begin to limit their personal range of activities to their immediate living environment and ultimately to their immediate home. Diseases of the musculoskeletal system as well as neurological, psychological, cognitive, sensory, and circulatory disorders can limit functional competence (ability to live independently).In the Longitudinal Urban Cohort Ageing Study (LUCAS), from which selected results are reported in this article, participants were categorized into different functional classes (Robust, postRobust, preFrail, Frail) using the LUCAS functional index. The results show that losses in functional competence were associated with impaired mobility and reduced car driving. Impaired mobility led to restricted radius of action.The aim of healthcare in old age is to preserve independence and quality of life as long as possible. Car driving is an important part of older peoples' activities of daily living. Therefore, primary care physicians should address car driving regularly because preventive measures to strengthen functional health also strengthen car driving ability in older persons.

Profile of Sensory Integration Disorders in Migraine Patients-New Perspectives of Therapy.

Background: The involvement of sensory integration disorders in the pathophysiology of migraine has been suggested. This study aims to analyze the relationship between symptoms of sensory integration disorders and migraine in a broad scope, including all sensory domains, and examine its impact on migraine attacks. Methods: The study included 372 people diagnosed with migraine. The Daniel Travis Questionnaire was used to assess symptoms of sensory integration disorders and their severity across six domains. The relationships between the severity of these symptoms and headache features, as well as accompanying headache symptoms, were the subject of statistical analysis. Results: Current impairment in all sensory domains was significantly associated with headaches exacerbated by everyday life activities. A significant inverse relationship was found between the occurrence of throbbing headaches and symptoms of sensory integration disorders in terms of current sensory discrimination, current motor skills, and current emotional/social skills. Past under-responsiveness and past disturbances in emotional/social abilities were significantly associated with migraine aura. Conclusions: The severity of symptoms of sensory integration disorders affects the clinical picture of migraine. The significant association between migraine and emotional/social disorders, as well as under-responsiveness in the past, needs further research to assess whether this is a cause-and-effect relationship. There is a need for in-depth diagnostics of sensory integration disorders in migraine patients, which could be an additional target of their therapy.