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This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural history study of FXS, were analyzed using descriptive statistics and multivariate linear and logistic regression models to examine SS and signs of HA, their impact on behavioral regulation and limitations on the subject/family. The sample (N = 933) consisted of 720 males and 213 females. More males were affected with SS (87% vs. 68%) and signs of HA (92% vs. 79%). Subjects who were endorsed as having a strong sensory response had more comorbidities, including behavioral problems. The predominant SS was difficulty with eye gaze that increased with age in both genders. As individuals age, there was less use of non-medication therapies, such as occupational therapy (OT)/physical therapy (PT), but there was more use of psychopharmacological medications and investigational drugs for behaviors. Multiple regression models suggested that endorsing SS and signs of HA was associated with statistically significantly increased ABC-C-I subscale scores and limited participation in everyday activities. This study improves our understanding of SS and signs of HA as well as their impact in FXS. It supports the need for more research regarding these clinical symptoms, especially to understand how they contribute to well-known behavioral concerns. [ABSTRACT FROM AUTHOR]

PTSD treatment that focused on a sensory symptoms is increasing. The study aimed to explore symptoms and abnormalities in the five senses exhibited by persons with PTSD and to examine whether there are any differences depending on type of traumatic experience. Questionnaire was followed by interviews to clinical psychologists involved in the treatment of PTSD. 249 PTSD symptoms exhibited in the sensory organs were collected. Sensory symptoms were classified into three categories according to the type of symptoms and the type of traumatic events. Cluster 1 is a group formed by child abuse and violence together with audition, tactile, and hyperarousal. Cluster 2 is made up of natural disaster, accident, and sexual assault together with vision, olfaction and intrusion. Cluster 3 is made up of multiple traumas together with gustation and dissociation. It is speculated that the survivors of Child abuse and violence are hypersensitive to sounds, the presence of others, and physical contact because they try to quickly sense when a perpetrator is approaching. Natural disasters, accidents, and sexual assault are events with strong smell and severe visual impact, it is possible that they may easily cause reliving of the event in the form of shocking visual images and smells in flashbacks. Dissociation symptoms were related with complex trauma and taste. The mouth is the site of first contact between mother and child, and it is possible that gustatory dissociation may occur mainly in cases of severe and repeated trauma since early childhood. [ABSTRACT FROM AUTHOR]

Over recent decades, peripheral sensory abnormalities, including the evidence of cutaneous denervation, have been reported among the non-motor manifestations in amyotrophic lateral sclerosis (ALS). However, a correlation between cutaneous innervation and clinical features has not been found. The aims of this study were to assess sensory involvement by applying a morpho-functional approach to a large population of ALS patients stratified according to King's stages and correlate these findings with the severity and prognosis of the disease. We recruited 149 ALS patients and 41 healthy controls. Patients undertook clinical questionnaires for small fibre neuropathy symptoms (Small Fiber Neuropathy Symptoms Inventory Questionnaire) and underwent nerve conductions studies (NCS) and 3-mm punch skin biopsies from leg, thigh and fingertip. We assessed intraepidermal nerve fibre (IENF) and Meissner corpuscle (MC) density by applying an indirect immunofluorescence technique. Moreover, a subset of 65 ALS patients underwent a longitudinal study with repeat biopsies from the thigh at 6- and 12-month follow-ups. Serum NfL levels were measured in 40 patients. Sensory symptoms and sensory NCS abnormalities were present in 32.2% and 24% of patients, respectively, and increased across clinical stages. Analogously, we observed a progressive reduction in amplitude of the sensory and motor ulnar nerve potential from stage 1 to stage 4. Skin biopsy showed a significant loss of IENFs and MCs in ALS compared with healthy controls (all P < 0.001). Across the clinical stages, we found a progressive reduction in MCs (P = 0.004) and an increase in IENFs (all P < 0.027). The increase in IENFs was confirmed by the longitudinal study. Interestingly, the MC density inversely correlated with NfL level (r = −0.424, P = 0.012), and survival analysis revealed that low MC density, higher NfL levels and increasing IENF density over time were associated with a poorer prognosis (all P < 0.024). To summarize, in patients with ALS, peripheral sensory involvement worsens in parallel with motor disability. Furthermore, the correlation between skin innervation and disease activity may suggest the use of skin innervation as a putative prognostic biomarker. [ABSTRACT FROM AUTHOR]

We report on a group of patients with gluten sensitivity with and without coeliac disease presenting with unexplained sensory symptoms in the absence of structural pathology. Methods: The patients were selected from the gluten neurology clinic based at the Royal Hallamshire Hospital, Sheffield, UK, on the basis of sensory symptoms but normal neuroaxis imaging and peripheral nerve evaluation. Results: A total of 30 patients were identified with a mean age at presentation of 47 years. The prevalence of enteropathy was 78%. The sensory disturbance was characterised by tingling at 50%, numbness at 27%, pain at 20%, burning at 13% and "buzzing" feeling at 7%. The distribution of the sensory symptoms included hands and feet in 27% of the patients, torso in 27%, legs only in 23%, face in 17% and arms only in 10%. For five patients, the sensory disturbance was migratory and affected different parts of the body at any given time. After the introduction of a gluten-free diet, 77% of patients noted significant improvement in their sensory symptoms. In one-third of the patients, there was a complete resolution of the sensory symptoms. Conclusion: Unexplained sensory symptoms can be seen in patients with gluten sensitivity and respond to strict adherence to a gluten-free diet. [ABSTRACT FROM AUTHOR]

Background and goal of studyPatients with zoster-associated pain exhibit a variety of sensory symptoms and forms of pain and complain of different pain patterns. The purpose of this study is to subgroup patients with zoster-associated pain who visited a hospital using painDETECT sensory symptom scores, analyze their respective characteristics and pain-related data, and compare similarities and differences among the groups.Materials and methodsThe characteristics of 1,050 patients complaining of zoster-associated pain and pain-related data were reviewed retrospectively. To identify subgroups of patients with zoster-associated pain according to sensory symptom profiles, a hierarchical cluster analysis was performed based on the responses to a painDETECT questionnaire. Demographics and pain-related data were compared among all subgroups.Results and discussionPatients with zoster-associated pain were classified into 5 subgroups according to the distribution of sensory profiles, with each subgroup exhibiting distinct differences in the expression of sensory symptoms. Patients in cluster 1 complained of burning sensations, allodynia, and thermal sensitivity, but felt numbness less strongly. Cluster 2 and 3 patients complained of burning sensations and electric shock-like pain, respectively. Cluster 4 patients complained of most sensory symptoms at similar intensities and reported relatively strong prickling pain. Cluster 5 patients suffered from both burning and shock-like pains. Patient ages and the prevalence of cardiovascular disease were significantly lower in cluster 1. Patients in clusters 1 and 4 reported longer pain duration compared with those in clusters 2 and 3. However, no significant differences were found with respect to sex, body mass index, diabetes mellitus, mental health problems, and sleep disturbance. Pain scores, distribution of dermatomes and gabapentinoid use were also similar among the groups.ConclusionsFive different subgroups of patients with zoster-associated pain were identified on the basis of sensory symptoms. A subgroup of younger patients with longer pain duration showed specific and distinct symptoms, such as burning sensations and allodynia. Unlike patients with acute or subacute pain, patients with chronic pain were associated with diverse sensory symptom profiles.

Background: Hypertrophic scars and keloids are forms of pathologic scarring that can give rise to pain and pruritus. The link between nerve function and nerve density and the symptoms in pathologic scars (PS) remains unclear., Objective: We aim to assess current knowledge on nerve function and nerve density in PS, and to explore a possible association between alterations in sensibility/nerve density and pathologic scar symptoms., Methods: A scoping review was conducted. After performing a systematic search using PubMed, Embase and Web-of-Science, relevant papers were selected and analyzed by 2 reviewers. Data was charted in tables in combination with a narrative summary of main findings., Results: Nineteen studies were included. Overall, functional sensibility in PS seems disturbed, with a higher frequency of allodynia and altered thermosensory thresholds, suggesting involvement of small fiber neuropathy. Nerve fiber density varied with the investigated skin layer and the used staining techniques, which implied limitations to compare findings from different studies. However, evidence suggests involvement of neuropeptides in the pathologic scar formation and symptomatology., Conclusions: Wide heterogeneity between studies exists. Therefore, no firm conclusions can be formulated. However, evidence suggests involvement of the cutaneous nervous system by neurogenic inflammation in the pathophysiology of pathologic scars and their symptoms., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Sensory symptoms are common in autism spectrum disorder (ASD). Previous studies have shown a positive correlation between sensory symptoms and internalizing problems; however, the role of the suffering due to sensory symptoms is not well understood. In the present study, we hypothesized that the relationship between sensory symptoms and internalizing problems in children is mediated by children's and surrounding people's suffering due to sensory symptoms. Parents of 113 students aged 6-15 years with and without ASD completed questionnaires about their children's autistic traits, sensory symptoms, suffering due to sensory symptoms, and internalizing problems. The results showed that autistic traits and sensory symptoms were distributed as a continuum throughout children with and without ASD. Therefore, we investigated the relationship among variables in children with and without ASD attending regular classes. Structural equation modeling indicated that those who scored higher on sensory symptoms demonstrated greater suffering due to sensory symptoms as predictors of internalizing problems. Our findings provide evidence for developing a support system that specifically reduces suffering due to sensory symptoms, especially for students in regular classes. [ABSTRACT FROM AUTHOR]

Sensory symptoms are prevalent in autism spectrum disorder but little is known about the early developmental patterns of these symptoms. This study examined the development of sensory symptoms and the relationship between sensory symptoms and adaptive functioning during early childhood. Three groups of children were followed across three time points from 2 to 8 years of age: autism spectrum disorder, developmental delay, and typical development. At each time point, parents filled out questionnaires regarding their child's sensory symptoms and adaptive functioning. At the initial time point, parents of children with autism spectrum disorder reported more sensory symptoms in their children than parents in the typical development group. Parents in the autism spectrum disorder group reported more sensory symptoms than parents in the developmental delay group within smell, taste, and auditory domains. While the typical development group decreased in reported sensory symptoms across the study period, the clinical groups demonstrated no significant change across assessment points. Sensory symptoms for all groups were not independently predictive of adaptive functioning when verbal mental age was also included in the model. The young age range at the initial assessment and pattern of results suggest that sensory symptoms are present early in the etiology of autism spectrum disorder and other developmental disorders and remain stable over time.

Abstract Spinal muscular atrophy (SMA) is largely linked to deletion or mutation of the Survival motor neuron 1 (SMN1) gene located on chromosome 5q13. Type III (Kugelberg–Welander disease) is the mildest childhood form and patients may become ambulatory and have a normal life expectancy. We report the clinical history and morphological findings of a 55-year-old woman who began to experience motor problems at the age of two. She was never fully ambulatory, and her severe scoliosis required the insertion of surgical rod at age 19. Unexpectedly, around 35 years of age, she began to experience sensory symptoms best characterized as a myelo-radiculo-neuropathy with pain as the dominant symptom. Investigations never clarified the etiology of these symptoms. Molecular confirmation of SMA type III was done post-mortem. Neuropathological examination showed classic changes of lower motor neuron neurodegeneration, in line with those reported in the single molecularly confirmed case published so far, and with findings in rare cases reported prior to the discovery of the gene defect. A key autopsy finding was the presence of a severe superficial siderosis of the lower half of the spinal cord. In recent years, the concept of duropathy was put forward, associating superficial siderosis of the spinal cord with various spinal abnormalities, some of which were present in our patient. The presence of significant hemosiderin deposits in the spinal cord and sensory nerve roots with associated tissue and axonal damage provide a plausible explanation for the unexpected sensory symptomatology in this mild lower motor neurodegeneration.

Introduction: It is not yet possible to estimate the proportion of patients with COVID-19 who present distinguishable classical neurological symptoms and syndromes. The objective of this study is to estimate the incidence of sensory symptoms (hypoaesthesia, paraesthesia, and hyperalgesia) in physicians who have presented the disease at Hospital Universitario Fundación Alcorcón (HUFA) in Madrid; to establish the relationship between sensory symptoms and the presence of other signs of infection; and to study their association with the severity of COVID-19., Methods: We conducted a descriptive, cross-sectional, retrospective, observational study. HUFA physicians who presented SARS-CoV-2 infection between 1 March and 25 July 2020 were included in the study. A voluntary, anonymous survey was distributed via corporate email. Sociodemographic and clinical characteristics were collected from professionals with PCR- or serology-confirmed COVID-19., Results: The survey was sent to 801 physicians and we received 89 responses. The mean age of respondents was 38.28 years. A total of 17.98% presented sensory symptoms. A significant relationship was found between the presence of paraesthesia and cough, fever, myalgia, asthaenia, and dyspnoea. A significant relationship was also found between paraesthesia and the need for treatment and admission due to COVID-19. Sensory symptoms were present from the fifth day of illness in 87.4% of cases., Conclusions: SARS-CoV-2 infection can be associated with sensory symptoms, mostly in severe cases. Sensory symptoms often appear after a time interval, and may be caused by a parainfectious syndrome with an autoimmunity background., (Copyright © 2023 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.)

Chronic pruritus (CP) is often accompanied by paresthetic sensations like warmth, burning and stinging. The aim of this study was to analyze, whether divergent sensations are linked to structural and functional skin alterations in clinically diagnosed CP patients. Clinical responses to capsaicin, histamine, and to thermal and mechanical stimulation, intraepidermal nerve fiber density, and epidermal expression of transient receptor potential (TRP)-channels were investigated in healthy controls, and in CP patients, reporting either warmth (CP-W) or neuropathic sensations (CP-N). In CP-W, pinprick hyperalgesia and increased sensitivity to capsaicin were aligned with increased epidermal TRPV1 expression, while smaller histamine axon reflex erythema matched with significantly reduced intraepidermal nerve fiber density. CP-N showed earlier onset of sensations after capsaicin stimulation, significantly increased warmth detection threshold, and higher epidermal expression of TRPV4 compared to healthy controls. The present study contributes to the neurobiological understanding of the divergence of sensory sensations in CP, indicating new treatment targets.

BackgroundDiabetic sensory neuropathy has rarely been studied in the Asian populations. This study investigated the prevalence and risk factors of sensory symptoms (SS) in the Taiwanese diabetes patients.MethodsA total of 1,400 diabetes patients received a health examination together with a structured questionnaire interview for three categories of abnormal sensation of numbness or tingling pain, electric shock, and skin thickness sensation on seven anatomical sites on upper limbs and six sites on lower limbs. Prevalence of SS was defined using nine different criteria, with the least stringent criterion of “any positive symptom on at least 1 site” and the most stringent criterion of “any positive symptom on at least bilateral and symmetrical 2 sites involving the lower limb.” Logistic regression was used to estimate the odds ratios and their 95% confidence interval for SS by the different definitions. Fasting plasma glucose and hemoglobin A1c were entered in separate models to avoid hypercollinearity.ResultsThe prevalence of SS was 14.4 and 54.0% when using the most stringent and least stringent criterion, respectively. Women consistently had a significantly higher prevalence than men did. Among the three categories of symptoms, numbness or tingling pain was the most common, and fingers and toes were the most commonly involved anatomical sites. For any symptoms, 37.1% of the patients had any symptoms on the upper limbs and 41.7% had any symptoms on the lower limbs. Female sex, diabetes duration, hemoglobin A1c, and hypertension were associated with SS in all models.ConclusionsTaiwanese diabetes patients may have a high prevalence of SS if a structured questionnaire is used for screening. Female sex, diabetes duration, hemoglobin A1c, and hypertension are associated with SS.

Background: Diabetic sensory neuropathy has rarely been studied in the Asian populations. This study investigated the prevalence and risk factors of sensory symptoms (SS) in the Taiwanese diabetes patients. Methods: A total of 1,400 diabetes patients received a health examination together with a structured questionnaire interview for three categories of abnormal sensation of numbness or tingling pain, electric shock, and skin thickness sensation on seven anatomical sites on upper limbs and six sites on lower limbs. Prevalence of SS was defined using nine different criteria, with the least stringent criterion of "any positive symptom on at least 1 site" and the most stringent criterion of "any positive symptom on at least bilateral and symmetrical 2 sites involving the lower limb." Logistic regression was used to estimate the odds ratios and their 95% confidence interval for SS by the different definitions. Fasting plasma glucose and hemoglobin A1c were entered in separate models to avoid hypercollinearity. Results: The prevalence of SS was 14.4 and 54.0% when using the most stringent and least stringent criterion, respectively. Women consistently had a significantly higher prevalence than men did. Among the three categories of symptoms, numbness or tingling pain was the most common, and fingers and toes were the most commonly involved anatomical sites. For any symptoms, 37.1% of the patients had any symptoms on the upper limbs and 41.7% had any symptoms on the lower limbs. Female sex, diabetes duration, hemoglobin A1c, and hypertension were associated with SS in all models. Conclusions: Taiwanese diabetes patients may have a high prevalence of SS if a structured questionnaire is used for screening. Female sex, diabetes duration, hemoglobin A1c, and hypertension are associated with SS. [ABSTRACT FROM AUTHOR]

• In Tourette syndrome (TS), most patients report premonitory urges to tic. • Sensory symptoms are documented in most body focused repetitive behaviors (BFRBs). • Patients with restless legs syndrome (RLS) have sensory urges to move their legs. • Repetitive behaviors in TS, BFRBs, and RLS have overlapping clinical features. • The sensory component of repetitive behaviors might have a shared pathophysiology. Tourette syndrome (TS) is a neurodevelopmental condition characterized by multiple tics. Sensory symptoms play a key role in the clinical phenomenology and pathophysiology of TS, as most patients report premonitory urges driving tic expression. Interestingly, sensory symptoms have also been reported in other conditions characterized by repeated behaviors. This review explores the nature of sensory symptoms reported by patients with body focused repetitive behaviors (BFRBs, especially trichotillomania and skin picking disorder) and restless legs syndrome (RLS) in comparison to TS. A sense of mounting inner tension and reinforcement mechanisms driven by gratification and relief on expression of the tic or repetitive behavior appear to be implicated across all conditions. Subjective urges can be temporarily suppressed by patients with TS and selected BFRBs, whereas patients with RLS tend to report dysesthesia more frequently than a suppressible urge to move. The observed similarities in the phenomenology of sensory symptoms across these conditions raise the possibility of a comparable underlying pathophysiology. Preliminary findings suggest an overlap of neural pathways encompassing the insula, basal ganglia (putamen), and posterior cingulate cortex. [ABSTRACT FROM AUTHOR]

Background: Sensory symptoms are defined as atypical behavioral responses to daily sensory stimuli that impact on the performance of everyday routines. Sensory symptoms have been observed in young people with and without developmental concerns. There is uncertainty, however, regarding the best way to identify and manage sensory symptoms. The aim of this paper is to provide a review of current best evidence regarding measurement of and interventions for sensory symptoms. Methods: A narrative review methodology is adopted to address the aims of this paper. First, sensory symptoms are defined, and then, an overview of the evidence for the relationship between sensory symptoms and childhood function is provided. Second, commonly used sensory assessment tools are summarized and evaluated. Finally, an overview and critique of the evidence for sensory and nonsensory‐based interventions addressing sensory symptoms are given. Results: The terminology used to describe sensory symptoms varies by discipline, and several conceptual taxonomies including sensory subtypes have been proposed. There is ample evidence to support the association of sensory symptoms with childhood function including social engagement, repetitive behaviors, anxiety, and participation in self‐care routines. Measurement of sensory symptoms is dominated by proxy‐report instruments, and few single instruments assess the entire domain of sensory symptomatology. The evidence for interventions for sensory symptoms is emerging but still limited by low quantity and methodological concerns. Conclusions: Effective management of sensory symptoms may mitigate the burden of neurodevelopmental disability and mental illness in young people. Identification of sensory symptoms should be conducted by a skilled practitioner utilizing multiple measurement methods. Intervention protocols for sensory symptoms should be informed by current best evidence which is strongest for Ayres Sensory Integration®, Qigong massage, the Alert Program®, and Social Stories. To make significant progress in this field, however, new intervention studies must address the question of 'what intervention works for whom?'. [ABSTRACT FROM AUTHOR]

This meta-analysis updated evidence regarding sensory over-responsivity (SOR), under-responsivity (SUR) and seeking symptoms in individuals with autism spectrum disorders (ASDs) relative to typical controls and those with other conditions. Fifty-five questionnaire studies included 4606 individuals with ASD. Moderators tested were age, IQ, male ratio, matching group, and self-report. Compared to typical controls, effect size was large and significant for SOR, SUR, and Seeking but heterogeneous. For Seeking, age, IQ and self-report were significant moderators. Compared with developmental disorders (DDs) groups, effect size was significantly positive for SOR and Seeking; whereas compared with other clinical groups, only SOR was significant. These findings highlight the core nature of sensory symptoms in ASD and particularly SOR. Explanatory factors are yet to be revealed. [ABSTRACT FROM AUTHOR]

Objective: In our clinic practice, peripheral neuropathies due to chemotherapy regimens in the treatment of lung cancer are frequently observed. The aim of this study was to evaluate the clinical symptoms and electrophysiological findings of chemotherapy administered patients with lung cancer who developed peripheral neuropathy. Method: The demographic data, symptoms, neurological examinations, EMG findings and chemotherapy agents of the lung cancer patients who were consulted to the neurology department between January 2012 and January 2018 and underwent electromyography (EMG) examinations with the preliminary diagnosis of peripheral neuropathy were reviewed retrospectively. Patients with diabetes mellitus, uremia, thyroid diseases and other systemic diseases that may cause neuropathy were excluded from the study. Results: Three hundred seventy-one (315, male) patients were included in the study. Of these patients, 203 (54.7%) had positive sensory, 247 (66.6%) negative sensory, 81 (21.8%) motor symptoms and 127 (34.2%) had pain symptoms. According to the presence of polyneuropathy detected by electromyography, patients with polyneuropathy were classified as Group I (n: 205, 67.4%) and those without polyneuropathy as Group II (n: 121, 32.6%). In Grup I, we detected sensory polyneuropathy in 160 patients (43.1%), motor polyneuropathy in 5 patients (1.3%) and sensory - motor polyneuropathy in 85 patients (22.9%). It was observed that presence of motor symptoms and negative sensory symptoms in Group I and presence of dysesthesia and paresthesia symptoms in Group II were statistically significant higher II (p=0.001, p=0.001, p=0.001, p=0.001). Conclusion: Sensory symptoms are the most common symptoms in chemotherapy induced polyneuropathy for lung cancer, and an increase in motor symptoms can be observed depending on the chemotherapy agent. [ABSTRACT FROM AUTHOR]

Chronic pruritus (CP) is often accompanied by paresthetic sensations like warmth, burning and stinging. The aim of this study was to analyze, whether divergent sensations are linked to structural and functional skin alterations in clinically diagnosed CP patients. Clinical responses to capsaicin, histamine, and to thermal and mechanical stimulation, intraepidermal nerve fiber density, and epidermal expression of transient receptor potential (TRP)-channels were investigated in healthy controls, and in CP patients, reporting either warmth (CP-W) or neuropathic sensations (CP-N). In CP-W, pinprick hyperalgesia and increased sensitivity to capsaicin were aligned with increased epidermal TRPV1 expression, while smaller histamine axon reflex erythema matched with significantly reduced intraepidermal nerve fiber density. CP-N showed earlier onset of sensations after capsaicin stimulation, significantly increased warmth detection threshold, and higher epidermal expression of TRPV4 compared to healthy controls. The present study contributes to the neurobiological understanding of the divergence of sensory sensations in CP, indicating new treatment targets. [ABSTRACT FROM AUTHOR]

A common presentation of inherited prion disease is Gerstmann-Sträussler-Scheinker syndrome, typically presenting with gait ataxia and painful dysaesthesiae in the legs evolving over 2-5 years. The most frequent molecular genetic diagnosis is a P102L mutation of the prion protein gene (PRNP). There is no explanation for why this clinical syndrome is so distinct from Creutzfeldt-Jakob disease, and biomarkers of the early stages of disease have not been developed. Here we aimed, first, at determining if quantitative neurophysiological assessments could predict clinical diagnosis or disability and monitor progression and, second, to determine the neuropathological basis of the initial clinical and neurophysiological findings. We investigated subjects known to carry the P102L mutation in the longitudinal observational UK National Prion Monitoring Cohort study, with serial assessments of clinical features, peripheral nerve conduction, H and F components, threshold tracking and histamine flare and itch response and neuropathological examination in some of those who died. Twenty-three subjects were studied over a period of up to 12 years, including 65 neurophysiological assessments at the same department. Six were symptomatic throughout and six became symptomatic during the study. Neurophysiological abnormalities were restricted to the lower limbs. In symptomatic patients around the time of, or shortly after, symptom onset the H-reflex was lost. Lower limb thermal thresholds were at floor/ceiling in some at presentation, in others thresholds progressively deteriorated. Itch sensation to histamine injection was lost in most symptomatic patients. In six patients with initial assessments in the asymptomatic stage of the disease, a progressive deterioration in the ability to detect warm temperatures in the feet was observed prior to clinical diagnosis and the onset of disability. All of these six patients developed objective abnormalities of either warm or cold sensation prior to the onset of significant symptoms or clinical diagnosis. Autopsy examination in five patients (including two not followed clinically) showed prion protein in the substantia gelatinosa, spinothalamic tracts, posterior columns and nuclei and in the neuropil surrounding anterior horn cells. In conclusion, sensory symptoms and loss of reflexes in Gerstmann-Sträussler-Scheinker syndrome can be explained by neuropathological changes in the spinal cord. We conclude that the sensory symptoms and loss of lower limb reflexes in Gerstmann-Sträussler-Scheinker syndrome is due to pathology in the caudal spinal cord. Neuro-physiological measures become abnormal around the time of symptom onset, prior to diagnosis, and may be of value for improved early diagnosis and for recruitment and monitoring of progression in clinical trials. [ABSTRACT FROM AUTHOR]

Joseph C Cappelleri,1 Vijaya Koduru,2 E Jay Bienen,3 Alesia Sadosky4 1Pfizer Inc, Groton, CT, USA; 2Eliassen Group, New London, CT, USA; 3Outcomes Research Consultant, New York, NY, USA; 4Pfizer Inc, New York, NY, USA Purpose: To psychometrically evaluate painDETECT, a patient-reported screening questionnaire for neuropathic pain (NeP), for discriminating among sensory pain symptoms (burning, tingling/prickling, light touching, sudden pain attacks/electric shock-type pain, cold/heat, numbness, and slight pressure). Methods: The seven-item version of painDETECT provides an overall score that targets only sensory symptoms, while the nine-item version adds responses on two items to the overall score, covering pain course pattern and pain radiation. Both versions have relevance in terms of characterizing broad NeP. The nine- and seven-item versions of painDETECT were administered to subjects with confirmed NeP across six conditions identified during office visits to US community-based physicians. Responses on the sensory symptom items were dichotomized into “at least moderate” (ie, moderate, strongly, very strongly) relative to the combined other responses (never, hardly noticed, slightly). Logistic regression of dichotomized variables on the total painDETECT score provided probabilities of experiencing each symptom across the range of painDETECT scores. Results: Both painDETECT versions discriminated among the symptoms with similar probabilities across the score ranges. Using these data, the probability of moderately experiencing each pain sensory item was estimated for a particular score, providing a pain profile. Additionally, the likelihood of experiencing each sensation was determined for a discrete increase in score, ie, the odds of at least a moderate sensation of burning (versus less than a moderate sensation) was 1.29 for a 1-point increase, 3.52 for a 5-point increase, and 12.42 for every 10-point increase in the nine-item painDETECT score. Conclusion: painDETECT differentiates pain profiles across the range of scores such that, for a particular score, the probability of experiencing at least a moderate sensation of each symptom was determined and compared. These results can help characterize NeP symptomatology, enrich interpretation of painDETECT scores, and provide a basis for individualizing NeP management. Keywords: neuropathic pain, painDETECT, sensory symptoms, pain profile, interpretation, patient-reported outcomes

Autism spectrum disorder (ASD) is characterized by atypical visual perception both in the social and nonsocial domain. In order to measure a reliable visual response, visual evoked potentials were recorded during a passive pattern-reversal stimulation in adolescents and adults with and without ASD. While the present results show the same age-related changes in both autistic and non-autistic groups, they reveal a smaller P100 amplitude in the ASD group compared to controls. These results confirm that early visual responses are affected in ASD even with a simple, non social and passive stimulation and suggest that they should be considered in order to better understand higher-level processes. [ABSTRACT FROM AUTHOR]

Convergent research suggests that people with ASD have difficulties localizing sounds in space. These difficulties have implications for communication, the development of social behavior, and quality of life. Recently, a theory has emerged which treats perceptual symptoms in ASD as the product of impairments in implicit Bayesian inference; as suboptimalities in the integration of sensory evidence with prior perceptual knowledge. We present the results of an experiment that applies this new theory to understanding difficulties in auditory localization, and we find that adults with ASD integrate prior information less optimally when making perceptual judgments about the spatial sources of sounds. We discuss these results in terms of their implications for formal models of symptoms in ASD. [ABSTRACT FROM AUTHOR]

Sensory processing differences have long been associated with autism spectrum disorder (ASD), and they have recently been added to the diagnostic criteria for the disorder. The focus on sensory processing in ASD research has increased substantially in the last decade. This research has been approached from two different perspectives: the first focuses on characterizing the symptoms that manifest in response to real world sensory stimulation, and the second focuses on the neural pathways and mechanisms underlying sensory processing. The purpose of this paper is to integrate the empirical literature on sensory processing in ASD from the last decade, including both studies characterizing sensory symptoms and those that investigate neural response to sensory stimuli. We begin with a discussion of definitions to clarify some of the inconsistencies in terminology that currently exist in the field. Next, the sensory symptoms literature is reviewed with a particular focus on developmental considerations and the relationship of sensory symptoms to other core features of the disorder. Then, the neuroscience literature is reviewed with a focus on methodological approaches and specific sensory modalities. Currently, these sensory symptoms and neuroscience perspectives are largely developing independently from each other leading to multiple, but separate, theories and methods, thus creating a multidisciplinary approach to sensory processing in ASD. In order to progress our understanding of sensory processing in ASD, it is now critical to integrate these two research perspectives and move toward an interdisciplinary approach. This will inevitably aid in a better understanding of the underlying biological basis of these symptoms and help realize the translational value through its application to early identification and treatment. The review ends with specific recommendations for future research to help bridge these two research perspectives in order to advance our understanding of sensory processing in ASD. [ABSTRACT FROM AUTHOR]