SEZ6L2 Antibody–Associated Cerebellar Ataxia Responsive to Sequential Immunotherapy

ObjectivesSeizure-related 6 homolog like 2 (SEZ6L2) antibody–associated ataxia is an extremely rare disease. Six patients have been reported and none of them improved significantly with immunotherapy. Herein, we present the case of a patient with cerebellar ataxia and SEZ6L2 antibodies who benefited from immunotherapy, which dramatically altered the course of her disease.MethodsWe present a case report of a 73-year-old woman with progressive balance problems. Her condition had rapidly deteriorated in the 2 weeks before the admission to our hospital leading to repeated falls and eventually left her bed-ridden.ResultsShe presented with severe trunk ataxia, bidirectional nystagmus, dysarthric speech, and persistent nausea. With the exception of cerebellar atrophy, extensive imaging studies revealed no pathology. SEZ6L2 antibodies were found in both CSF and serum. Over a period of 9 months, our patient received immunotherapy consisting of steroid pulse therapy, IV immunoglobulin infusions, rituximab, and cyclophosphamide. Consequently, her condition improved markedly, and she was discharged home from the neurologic rehabilitation unit.DiscussionOur case report shows that intense sequential immunotherapy may considerably improve level of functioning in some patients with SEZ6L2 antibody–associated cerebellar ataxia.Classification of EvidenceThis provides Class IV evidence. It is a single observational study without controls.

Characterization of Balance Problems and Rehabilitation Needs of Patients with Ménière’s Disease

Background: To explore and characterize balance problems in subjects with Ménière’s disease (MD). Methods: A total of 539 people with MD with a mean age of 61.9 years, mean disease history of 15.6 years, and 79.5% females were recruited. The online questionnaire, consisting of 39 questions, including both structured and open-ended questions, focused on symptoms of MD, balance problems, impacts of the complaints, and quality of life (QoL). Results: After hearing loss (58%) and tinnitus (50%), balance problems (44%) were among the most commonly reported MD complaints, even higher than the impact of vertigo (40%). However, only 22% reported that those balance problems made obvious impacts in their daily lives. The most common balance problem that significantly reduced QoL was tripping (34%). Swaying (25%) had a limited impact on QoL, whereas rocking (10%) was less common but caused a significant impact on QoL. Non-defined balance problems were reported at 18%; these were occasional and correlated with vertigo attacks. Older participants had more frequent tripping problems. Younger participants more frequently reported swaying and rocking. Conclusions: Risk factors predicting poor postural control were mostly related to complaints reflecting otolith pathology. Different types of postural problems require different strategies to manage balance control and cope with the disease.

Dancing With Parkinson's Disease: The SI-ROBOTICS Study Protocol

Introduction: Parkinson's disease (PD) is one of the most frequent causes of disability among older people, characterized by motor disorders, rigidity, and balance problems. Recently, dance has started to be considered an effective exercise for people with PD. In particular, Irish dancing, along with tango and different forms of modern dance, may be a valid strategy to motivate people with PD to perform physical activity. The present protocol aims to implement and evaluate a rehabilitation program based on a new system called “SI-ROBOTICS,” composed of multiple technological components, such as a social robotic platform embedded with an artificial vision setting, a dance-based game, environmental and wearable sensors, and an advanced AI reasoner module.Methods and Analysis: For this study, 20 patients with PD will be recruited. Sixteen therapy sessions of 50 min will be conducted (two training sessions per week, for 8 weeks), involving two patients at a time. Evaluation will be primarily focused on the acceptability of the SI-ROBOTICS system. Moreover, the analysis of the impact on the patients' functional status, gait, balance, fear of falling, cardio-respiratory performance, motor symptoms related to PD, and quality of life, will be considered as secondary outcomes. The trial will start in November 2021 and is expected to end by April 2022.Discussions: The study aims to propose and evaluate a new approach in PD rehabilitation, focused on the use of Irish dancing, together with a new technological system focused on helping the patient perform the dance steps and on collecting kinematic and performance parameters used both by the physiotherapist (for the evaluation and planning of the subsequent sessions) and by the system (to outline the levels of difficulty of the exercise).Ethics and Dissemination: The study was approved by the Ethics Committee of the IRCCS INRCA. It was recorded in ClinicalTrials.gov on the number NCT05005208. The study findings will be used for publication in peer-reviewed scientific journals and presentations in scientific meetings.

Relying on Myself: The Lived Experience of Being at Risk for Falling in the Hospital Among Older Adults

Inpatient falls are a persistent problem and despite research efforts during the last decade, inpatient fall rates have not significantly decreased. Older adults have an estimated 50% greater inpatient fall rate than younger adults. How older adults perceive their own fall risk affects their adherence to fall prevention recommendations. The aim of this phenomenological study was to gain a deeper understanding of the lived experiences of being at risk for falling in the hospital among older adults aged 65 years and older (N=9). Participants (female=55%, age range=67 – 86) were interviewed twice using video conferencing within two weeks of hospital discharge. The audio-recorded interviews were transcribed, and then analyzed using van Manen’s interpretive phenomenological method. The Health Belief Model expanded with the concepts of independence, fear of falling, embarrassment, dignity, and positivity effect served as the theoretical framework. Five major interpretive themes emerged: Relying on Myself, Managing Balance Problems in an Unfamiliar Environment, Struggling to Maintain Identity, Following the Hospital Rules, and Maintaining Dignity in the Relationships with Nursing Staff. These themes describe how the participants thoughtfully planned their mobilization to avoid falls. This process was influenced by their struggling to remain independent, following the hospital fall prevention rules out of politeness, and experiencing both positive and negative relationships with nursing staff. Hospitalized older adults employed their self-efficacy to manage balance problems in the hospital. These findings have not been previously documented in the literature. Fall prevention interventions supporting hospitalized older adults’ self-management of fall risk are needed.

Usher syndrome

Usher syndrome is a condition that affects both hearing and vision; sometimes it also affects balance. The major symptoms of Usher syndrome are deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Most children with Usher syndrome are born with moderate to profound hearing loss, depending on the type. Less commonly, hearing loss from Usher syndrome appears during adolescence or later.1 Usher syndrome affects approximately 4 to 17 per 100,000 people,2,3 and accounts for about 50 percent of all hereditary deaf- blindness cases.4 . Usher syndrome is inherited as an autosomal recessive disorder. Usher syndrome is caused by mutations in specific genes. So far, Usher syndrome has been associated with mutations in at least ten genes. There are three types of Usher syndrome, type I, type II and type III 1. Diagnosis of Usher syndrome involves pertinent questions regarding the person’s medical history and testing of hearing, balance, and vision. Early diagnosis is important, as it improves treatment success. Genetic testing may help in diagnosing Usher syndrome. Presently, there is no cure for Usher syndrome. Treatment involves managing hearing, vision, and balance problems. Early diagnosis helps tailor educational programs that consider the severity of hearing and vision loss and a child’s age and ability.1 Usher Syndrome Awareness Day is observed in the third Saturday of September. Usher Syndrome Awareness Day seeks to bring attention and raise awareness of the most common genetic cause of combined deafness and blindness.5

Reporting of Concussion Symptoms by a Nationwide Survey of United States Parents of Middle School Children

This cross-sectional study assessed concussion symptom knowledge of parents of middle school (MS) children (aged 10–15 years) through a free-response item that solicited concussion symptoms and compared findings to a pre-validated scale-based measure. A self-administered online questionnaire was sent to a panel of randomly selected United States residents who were recruited by a third-party company, aged ≥ 18 years, and identified as parents of MS children. Via a free-response item, parents listed what they believed were concussion symptoms. Multiple sections later, parents identified potential concussion symptoms via a scale measure, which featured 25 items (22 actual symptoms, three distractor symptoms) with three response options: yes, no, maybe. Free-response item responses were coded into specific symptoms. The 1062 eligible parents that provided complete data commonly identified the symptoms of dizziness (90.2%), blurred vision (87.4%), and balance problems (86.4%) on the scale-based measure. However, these and other symptoms were less commonly identified via the free-response item (dizziness: 44.4%; blurred vision: 16.5%; balance problems: 3.5%). Concussion symptoms commonly reported via the scale-based measure were reported less frequently within the free-response item. Future research must explore strategies to help clinicians working with parents and their children to measure and assess concussion symptom reporting and knowledge.

Improving Balance in Adults With Intellectual Developmental Disorder via Virtual Environments

Balance problems have been found among 57% of adults with Intellectual Developmental Disorder (IDD). Moreover, these adults have only partially participated in conventional activity programs. There is a clear need for new interventions that will enhance these individuals’ interest and motivation toward improving their balance skills. Virtual gaming training experiences are a promising prospect in that regard. The purpose of this study was to examine the effect of virtual reality games on improving balance for adults with IDD. We recruited 31 individuals with mild-moderate IDD who had fallen at least twice in the year prior to initiating this intervention, and we evaluated these participants using the Timed Up and Go (TUG) test. The participants were randomly assigned to control and experimental groups, and only the latter group took part in a series of twelve 30-minute bi-weekly virtual game sessions, designed to improve balance using the SeeMe virtual game system. We found significant (p < .001) pre-post improvements in balance abilities in the experimental group and no significant pre-post change in the control group (p < .77). These data suggest that virtual game technology is a viable tool for improving balance among adults with IDD.

O30 Case report of Cogan syndrome in a child with audiovestibular dysfunction and ocular inflammation

Case report - Introduction Cogan syndrome is a very rare disorder of probable autoimmune vasculitic origin, first described in 1934. The age of onset seems to range from 3 to 50 years with an average age of disease onset at 29 years. It is characterised by audiovestibular dysfunction and ocular inflammation. The cause remains unknown and the epidemiology of the disease is purely based on case reporting. As of 2015, there were fewer than 250 case reports. Interestingly, it seems extremely rare in Arabic and Middle Eastern countries in which a new case has been recently diagnosed and is being reported in this abstract. Case report - Case description A 14-year-old girl of Arabic origin first presented to the ENT specialist with a 3-week history of balance problems, left tinnitus and sensorineural hearing loss in both ears worse on the left. She first received treatment for vestibular neuritis with no improvement. Two months later, she complained of bilateral red eyes and excessive lacrimation when diffuse interstitial keratitis was diagnosed by the ophthalmologist. An array of blood tests including a full autoimmune disease was arranged and a rheumatology opinion was sought. The patient had a normal inflammatory response and her screen for antinuclear antibodies, extractable nuclear antigen, rheumatoid factor and antineutrophil cytoplasmic antibodies were all negative. A full virology screen was also negative. Having failed to respond to all supportive treatment modalities, a trial of a tapering 2-week course of prednisolone starting at 25mg daily was instigated. The patient’s symptoms improved by more than 50% on glucocorticoids subsequent to which the diagnosis of Cogan syndrome was anticipated. As the patient’s symptoms relapsed when glucocorticoids were stopped, she was recommenced on prednisolone 25mg in line with azathioprine 100mg daily. The patient’s hearing, which was almost lost in the left ear, improved significantly by more than 70% initially, and then to normal hearing as stated by the patient supported by special ENT testing. Her balance problems and vertigo also improved remarkably. Her tinnitus, which was the last symptom to resolve, almost went away over the subsequent 2 months. The patient had already come off glucocorticoids 6 months down the line, and stayed on azathioprine 75-100mg daily for almost a year after which gradual weaning was trialled and then eventually succeeded. She has now been off azathioprine for 6 months without experiencing any disease relapse. Case report - Discussion Cogan syndrome can be difficult to diagnose particularly in children. The diagnosis is essentially clinical depending on the presence of audio-vestibular symptoms and interstitial keratitis along with a prompt response to immunosuppressive medication. In this patient, the consistent clinical picture supported by the positive response to glucocorticoids especially in the absence of an alternative diagnosis would have made the diagnosis of Cogan syndrome likely. Given the rarity of this disorder, there are no classification criteria as yet hence the ongoing need for case reporting. Moreover, there is no clear guidance on the duration of immunosuppressive treatment of this condition. Case report - Key learning points It is pivotal in managing conditions with a suspected autoimmune origin to have a multidisciplinary approach involving other relevant specialties in a holistic approach. The prompt response to glucocorticoid therapy still remains the key in securing the diagnosis of a number of conditions in clinical practice especially in the absence of diagnostic criteria and/ or supportive investigations such as serological and tissue-based testing. Case reporting has a crucial role in enhancing awareness of rare medical conditions.

A comparison of head movements tests in force plate and accelerometer based posturography in patients with balance problems due to vestibular dysfunction

This study compares HS posturography on inertial sensors (MediPost) with force platform posturography in patients with unilateral vestibular dysfunction. The study group included 38 patients (age 50.6; SD 11.6) with unilateral vestibular weakness (UV) and 65 healthy volunteers (48.7; SD 11.5). HS tests were performed simultaneously on the force plate and with MediPost sensor attached at L4. Four conditions applied: eyes open/closed, firm/foam. The tests were performed twice, with the head moving at the frequency of 0.3 Hz (HS 0.3) and 0.6 Hz (HS 0.6). Mean sway velocity was significantly lower for MediPost than force plate in 4th condition both in UV and healthy group. For HS 0.3 the differences between devices were marginal; the highest sensitivity (87%) and specificity (95%) were in 4th condition. For HS 0.6 MediPost revealed lower sensitivity than force plate although the surface parameter improved results. MediPost IMU device and force platform posturography revealed a similar ability to differentiate between patients with balance problems in course of vestibular pathology and healthy participants, despite the differences observed between measuring methods. In some tests surface parameter may be more appropriate than sway velocity in improving MediPost sensitivity.