Latest news with #clinicians
The Independent
12 hours ago
- Health
- The Independent
Urgent care clinics are inappropriately prescribing pills, research shows
Urgent care clinics in the US are reportedly overprescribing antibiotics, glucocorticoids, and opioids for conditions they are not meant to treat, potentially causing harm. A study analyzing over 22 million urgent care visits between 2018 and 2022 found millions of prescriptions for these drugs, with a substantial number deemed inappropriate for the patients' diagnoses. Specific instances of inappropriate prescribing included 46 percent of patients with urinary symptoms receiving unnecessary antibiotics and 41 percent of bronchitis patients getting inappropriate glucocorticoids. Researchers suggest that factors contributing to this issue include clinicians' knowledge gaps, patient demand, and a lack of comprehensive information systems to support prescribing decisions. Proposed solutions to mitigate inappropriate prescribing involve implementing drug stewardship programs, utilizing electronic health records more effectively, and providing further medication education for healthcare providers.
Forbes
16 hours ago
- Health
- Forbes
Powering Possibilities In Healthcare With AI And Edge Computing
Imagine a hospital where a clinician can receive critical diagnostic insights in real-time, patient care isn't hindered by geography or resource limitations, and administration is so frictionless that clinicians can focus entirely on their patients. This is not a distant dream; this is what AI and edge computing are enabling right now. The intersection of AI and edge computing is empowering providers to make faster, better decisions that improve lives. The healthcare industry generates staggering amounts of data daily, from electronic health records, real-time monitoring devices used in ICU wards, even telemetry data recorded on smart watches. The real challenge is healthcare organizations are drowning in data, but are thirsty for knowledge, and this is where AI and edge computing can make a difference. By processing data close to where it's generated, edge computing drives real-time performance, provides better access and enhances security, essential in healthcare. Combine this with AI's ability to analyze data at blistering speeds, and you get insights that improve clinical decision-making and operational choices. Predictive analytics, for instance, empower hospitals to anticipate patient surges, optimize staffing schedules, and even ensure that life-saving supplies are available when needed. Take diagnostic imaging as another example. AI-enhanced imaging tools can identify conditions such as tumors or cardiovascular abnormalities with remarkable accuracy. These tools often provide access to and enhance specialists' capacity to serve in remote settings, delivering life-saving information directly at the point of care. Personalized medicine is one of the most exciting advancements in healthcare today. By leveraging tools like the Dell AI Factory with NVIDIA, healthcare providers can implement sophisticated AI models to tailor care to the unique needs of each individual. A patient's genetic profile, combined with their medical history and lifestyle data, allows clinicians to craft treatment plans and predictive diagnostics never before possible. This approach is already transforming oncology care, where genomic analysis guides targeted therapies. Tools within this ecosystem can identify complications before they escalate, paving the way for preemptive care. And the benefits extend beyond clinical walls. Edge computing makes it possible to bridge care gaps in underserved areas, connecting patients to specialists via digital health solutions and delivering remote care. Picture a rural patient managing their chronic condition with AI-driven devices that continuously monitor their health and alert medical professionals when intervention is needed. With these tools, care becomes inclusive, accessible, and proactive. A great example of how technology drives healthcare transformation is the Guthrie Clinic. Serving a sprawling region, Guthrie implemented the Dell AI Factory with NVIDIA within its operations to great effect. One remarkable outcome was its success in reducing patient falls by 70%. Using AI-driven computer vision, the clinic tracks patient movement patterns and identifies potential fall risks. When a risk is detected, the system alerts healthcare teams, enabling immediate intervention. This proactive approach ensures patient safety and fosters trust between caregivers and those they serve. The efficiencies don't stop there. By equipping clinical teams with time-saving tools, the Guthrie Clinic improved discharge speeds, reduced readmissions and created capacity to accept 85% of hospital transfer requests. AI didn't just enhance operations, it improved quality care, making care more accessible to every patient. Watch the video to learn more about Guthrie Clinic's transformational story. While patient care is at the heart of healthcare, smooth operations are essential for providers and systems to deliver outcomes. AI and edge computing are key to achieving this balance. From optimizing workflows to forecasting resource needs, these tools allow healthcare systems to function with agility and precision. For example, predictive models powered by AI anticipate ICU occupancy rates, ensuring vital equipment and staff are ready when needed. Additionally, digital twin technologies simulate emergency scenarios, preparing clinical teams for real-world challenges with confidence. Dell NativeEdge amplifies these capabilities by simplifying deployment processes. Through intuitive, zero-touch solutions, healthcare organizations can integrate AI without disruption, scaling critical functions as demands evolve. It's technology working seamlessly behind the scenes, enabling caregivers to focus entirely on patients. The integration of AI and edge computing isn't just solving today's problems, it's redefining the future of healthcare to create a reality where chronic illnesses are anticipated before they develop, operating rooms are enhanced with real-time data, and healthcare reaches patients wherever they are, without barriers. At the forefront of this transformation, Dell Technologies and NVIDIA are working together to elevate healthcare systems globally. By leveraging tools like edge computing and AI, they're helping organizations create inclusive, resilient systems that prioritize patient outcomes above all else. The future of healthcare is extraordinary, and it's happening now. Whether you're exploring ways to improve operational efficiency, enhance diagnostic precision, or personalize care, AI and edge computing hold the solutions you need. Solutions like the Dell AI Factory with NVIDIA empower healthcare providers to achieve smarter operations, better outcomes, and, ultimately, change lives. Are you ready to be part of this transformation? Download the eBook, Transforming Healthcare and Life Sciences with AI and Edge Computing, to discover actionable strategies and learn how technology can empower your care delivery. Together, we can drive progress and reimagine what's possible in healthcare.
Medscape
a day ago
- Health
- Medscape
Technology Provides Aid in Fight Against Workplace Violence
In American hospitals, the corporate buzzword 'employee engagement' likely means something different than it does at the local widget company. No, in healthcare it first and foremost means keeping clinicians and all the caregivers in the hospital environment safe. The most recent data released from the US Bureau of Labor Statistics showed that healthcare workers accounted for 73% of all nonfatal workplace injuries and illnesses due to violence in 2018. This was a rate of 10.4 incidents per 10,000 workers, and the number of incidents showed steady increases since 2011. These figures do not account for the fraught period around the pandemic, during which time one study conducted in Egypt reported that more than half the healthcare workers who responded had been subjected to some sort of abuse on the job, whereas another conducted in Pakistan found that nearly 40% of emergency department doctors and nurses reported at least one episode of violence. With figures like these, not to mention the profession-wide burnout crisis, healthcare facilities all over the world are seeking out new approaches to keep providers safe. Northeast Georgia Health System, headquartered in Gainesville, Georgia, and Holyoke Medical Center, based in Holyoke, Massachusetts, are using a Bluetooth Low Energy ( BLE) system to do just that — and more. Tool Protects 10,000 Staff Members in Northeast Georgia With 950 beds and 10,000 medical staff members to protect at five locations, Northeast Georgia Health System Chief Information Officer Chris Paravate had a security challenge on his hands. 'When patients come to us, particularly in the emergency room and inpatient, they were not only bringing their medical condition, they're bringing everything with them. Their problems, their issues, their anxiety, their fear, their families, their socioeconomic problems come in our front door, and people are the most vulnerable when they are in that setting,' Paravate said. 'Sometimes their actions are not so favorable, and we want our patients and our employees and our staff to feel safe.' In 2021, Paravate turned to Poland-founded, New York-based and their BLE badging system to enhance security at their locations. The device contains a portable duress button that provides real-time location services, can be integrated within existing security and nursing workflows, and is able to be pressed discreetly — much more so than the old system of pulling a cord or rope to trigger an alert system, or even reaching for and pressing the emergency button on a cell phone, either of which may serve to only exacerbate a dangerous situation. Paravate said he left his first meeting with CEO and put some sample devices in the hands of one of the charge nurses on duty in the emergency department of their Gainesville facility, and the reaction was immediate. 'I said, 'Would you wear this?' And she took the badge and put it on and said, 'I'll try it. What does it do?'' Paravate said. 'I said, 'Well, it's got a button on the back, and you can press it if you need help.' She said, 'Oh, that'd be cool.'' Nurses are understandably picky about their gear and notorious for immediately sensing anything that will slow them down or get in the way of providing care. This reception was what Paravate had been looking for in a technology-based approach to workplace violence reduction. '(You usually can't take) that type of innovation and…talk with someone who has journeyed through that, who literally was 50 steps from four trauma rooms, who's sitting in the core of the third largest emergency room in the state, and…get that reaction,' Paravate said. The charge nurse wanted to know when the rest of the staff would get the same tool and how it works and wanted to know that if she pushed the button, someone would actually come help, he said. 'It was never about, well, you're gonna tag me or you're gonna track me,' he said. 'It was, 'Wow, you'd invest in technology for me to ensure that I was safe.'' Paravate had also been looking for a system that could be used for multiple purposes. At Northeast Georgia Health System, they are using the badging system to track patients to accurately deploy physician resources as well. For example, it can ensure that physicians only round on patients who are in their rooms so as not to waste providers' time when they could be caring for others. Paravate said these data are being used over time to forecast and anticipate staffing needs. Overall, Northeast Georgia Health System reported an estimated $10.2 million return on investment in the first year of deployment of the badging system's initial use case, which is a factor of 20x on their initial spend. What Is BLE? Bluetooth is the wireless technology familiar to most people for its use in earbuds, car stereos, and the like. This 'digital handshake' enables a variety of wireless devices to connect and interact using radio waves to transmit information. When two Bluetooth-enabled devices are in proximity, they can detect each other and initiate a connection. That's called pairing, where devices exchange unique security codes to establish a secure link; once paired, they remember each other for future connections. Instead of maintaining a continuous connection, BLE devices send small packets of data intermittently, sleeping when not transmitting or receiving data to conserve power. These devices manage their transmissions through a system of what are called advertising channels — not advertising like on television but advertising in the 'Hey, it's me, I'm here,' sense: A peripheral device, like a sensor in a badge in this case, will 'advertise' its presence by periodically sending out small data packets. A central device, such as a smartphone, can then listen for these advertisements and initiate a connection if it needs more information. Once a connection is established, BLE maintains its energy efficiency by using a pared-down client-server architecture known as the Generic Attribute Profile. The peripheral device acts as the server, holding data in a standardized format of services and characteristics. The central device, or client, can then read or write these data as needed. Using asynchronous communication, the client only requests data when necessary, and the server only sends updates when new information is available. With BLE's very fast connection setup times and short data packets, this ensures that the radio is active for the minimum possible duration, extending the battery life of devices so that they often last months or even years on a single coin cell battery. The Competitive Landscape in BLE Several of competitors in the staff duress badging sector include BLE in their badging makeup. These competitors include the following companies: AiRISTA Flow, which specializes in RTLS solutions across many industries. Their products include BLE-based tags and infrastructure for healthcare. They focus on improving operational efficiency, patient safety, and asset utilization. BeaconTrax, a Canadian company that specializes in beacon-based technologies powered by BLE that offers staff distress systems for the healthcare industry. Its systems include panic buttons and wristbands. BlueUp, an Italian company that designs and produces Local Positioning Systems based on BLE technology, as well as a wide range of other systems. They offer solutions for localization, tracking, and asset management in healthcare facilities, as well as for manufacturing and logistics operations, and their products include badges and wearable devices. CenTrak, which has a wide range of tags for both patients and staff, some of which include BLE in their technology package, often combined with Wi-Fi and their proprietary Gen2IR for accuracy. They offer solutions for staff duress and patient management among other functions. Lansitec, which offers a range of Bluetooth beacons, including badge-style transmitters, that are suitable for hospital asset tracking, staff location, and more, as well as a wide variety of other products. They emphasize features like adjustable transmit power and Angle of Arrival support for precise location. MeshTrac, which offers BLE beacon-based tracking systems for patients and assets in healthcare, emphasizing real-time visibility, enhanced patient safety, and workflow optimization. Minew, a significant manufacturer of BLE beacons and tags, including badge-style wearables designed for people management, staff tracking, and safety applications in various industries, including healthcare. Like Lansitec, they offer both standard and Angle of Arrival versions for improved accuracy. Stanley Healthcare (AeroScout), a multinational company that is increasingly implementing BLE in its solutions, including for staff safety and for patient management. Real-Time Location Services 'Real-time location services' is the name of the technology that makes locating a staff member in trouble, or determining that a patient is not in their room, possible. Real-time location services can be handled in a variety of ways in the healthcare: infrared, active and passive radio frequency identification (RFID), Wi-Fi, and ultra-wideband are all alternatives to BLE. They each have pros and cons: While ultra-wideband is highly accurate, it's also generally much more expensive to deploy than BLE because it requires dedicated infrastructure and doesn't mesh as well with other systems; Wi-Fi, meanwhile, is cost-effective and easy to integrate but less precise and consumes more power; infrared systems can only achieve room-level accuracy because they generally can't penetrate walls; passive RFID tags are generally only useful for choke points like entries and exits, and active RFID tags require a battery but maintain a persistent signal so are less energy efficient than BLE.
Forbes
a day ago
- Health
- Forbes
Stanford Pioneers Medical LLM ChatBot Model
Nov 2, 2019 Redwood City / CA / USA - Stanford Health Care facility; Stanford Health Care comprises ... More a network of medical facilities and doctors located around the San Francisco Bay area Researchers at Stanford are setting up a pilot project that uses the power of large language models to help clinicians handle patient information in new ways. Basically speaking, clinicians can ask questions to a chatbot called ChatEHR and automate charting, as well as promoting enhanced diagnostics. Some of what people like about the software is that it's secure, direct and seamless. Stanford chief data science officer Nigam Shah points out that for AI to be effective, it should be embedded in their workflows and have a high degree of accuracy. 'ChatEHR is secure; it's pulling directly from relevant medical data; and it's built into the electronic medical record system, making it easy and accurate for clinical use,' Shah said. Why it Matters Is this software valuable to clinicians? You have to look at the current context, and what healthcare professionals need. Too many clinicians spend a lot of their time dealing with chart notes. Take this testimony from one frustrated medical worker posted on Reddit: 'Hello fellow docs - third year Family Medicine Resident here. Recently ramped up to 20 patients per day in clinic at my FQHC and I feel like I'm drowning in notes. I spent all of this weekend finishing notes. I know parts of the problem are: 1) using NextGen, 2) having to write extra to prove to attendings you can think.' The poster talks about current methodology: 'I've started using the computer as much as possible in the room to get all the HPI down. I type out the whole plan before the patient leaves. I am having patients come back more instead of addressing a lot each visit. But I STILL am spending all my time doing notes it seems. This is not sustainable. I feel like I will never have a life. A scribe isn't in my near future as usually attendings have to work a few years to get one.' Then this person asks for help from the forum. 'Any tips? How do you guys feel about charting taking over your free time?' These new technologies have enormous potential to help with exactly this kind of workload. And from reading this person's feedback, the workload seems heavy indeed. Feedback from Anurang Revri At a recent IIA event, I sat in on a lecture with a panel, including Anurang Revri, Chief Enterprise Architect for Stanford Medicine. Here are a couple of quotes that Revri brought up around the idea of automating tasks like this: 'We support research education as well as clinical care … so it's an interesting sort of place to be, where we have this kind of amazing research that we can translate into clinical workflows or external vendors and solutions. So that's sort of our focus, to implement the responsible AI life cycle.' 'When you start combining all those pieces of data and building models, multimodal models, around that, then it becomes a really powerful thing in clinical care.' Use Cases for the Technology It's expected that the ChatEHR technology will lead to various types of advances in automated healthcare. A resource from Nelson Advisors puts this into five categories, so I'll outline them with bullet points: Enhanced clinical decision support and diagnostics Streamlined administrative and clinical workflows Enhanced patient engagement and personalized care Global health applications and bridging access gaps Advanced data utilization and research Some of these are very interesting. Under decision support, you have advances in treatment. With administrative issues, you see how this works with the patient life cycle. Under the fifth column of 'advanced data utilization and research,' you have the idea of digital twins, in order to house a person's health data in a certain digital entity – and I think that wearable devices will come in handy here. All of it is likely to help us make medicine more effective, and do earlier interventions for patients. And that's a big deal. Look for this type of technology to blossom in the healthcare industry as a whole.
Medscape
2 days ago
- Health
- Medscape
Uncontrolled Movements, Anger, and Insomnia
Editor's Note: The Case Challenge series includes difficult-to-diagnose conditions, some of which are not frequently encountered by most clinicians, but are nonetheless important to accurately recognize. Test your diagnostic and treatment skills using the following patient scenario and corresponding questions. If you have a case that you would like to suggest for a future Case Challenge, please email us at ccsuggestions@ with the subject line "Case Challenge Suggestion." We look forward to hearing from you. Background A 35-year-old man presents to the neurology clinic due to abnormal movements over the past 6 years. The involuntary movements began in the right upper limb, followed sequentially by the left upper limb, left lower limb, and finally the head and neck. The movements occur during wakefulness and are absent in sleep. They are described as jerky and nonpurposeful. His gait has assumed a dancelike character. He also has had behavioral changes that include frequent outbursts of anger, aggressive behavior, depressive mood, and insomnia. His abnormal movements are aggravated during outbursts of anger and disturbances in mood. He has no weakness in any limbs but is unable to perform regular household activities. Family members have also noted memory impairment. He has been unable to continue his work as a machine operator for the past 3 months. He has no history of psychoactive drug intake, including phenytoin, phenothiazines, haloperidol, L-dopa, lithium, isoniazid, amphetamines, tricyclic antidepressants, or any other relevant drugs. He reports no history of chest pain, breathlessness, or joint pain. His family history includes a paternal grandfather and father who had similar forms of abnormal movements and died at the age of 60 years and 55 years, respectively. The patient has five siblings (two brothers, three sisters). His elder brother died by suicide at age 25 years, and his elder sister died at age 33 years. Both had abnormal movements and abnormal behaviors. One of his younger sisters (age 22 years) also has similar abnormal movements and depressed attitude. His younger brother (age 17 years) and other younger sister (age 14 years) are healthy and symptom-free. The patient's children, an 8-year-old son and a 10-year-old daughter, are symptom-free. His past medical history is positive for hypertension, which is well controlled with lisinopril (20 mg daily). He has no surgical history. He does not smoke, drink, or use recreational drugs. Physical Examination and Workup A general examination reveals a pleasant man who is well built and in no acute distress. His blood pressure is 140/80 mm Hg, his heart rate is 78 beats/min, his respiratory rate is 12 breaths/min, his SpO 2 level is 98% on room air, and his body mass index (BMI) is 20. He is afebrile. A cardiovascular examination reveals normal peripheral pulses and normal heart findings. A chest examination reveals normal auscultation and expansion. His abdomen is soft. Head, eyes, ears, nose, and throat (HEENT) examination findings are unremarkable. He does not have a skin rash. A visual examination reveals normal acuity, field, and fundi. His affect is flat. A neurologic examination of the higher mental functions reveals that the patient is awake and alert, with normal orientation, attention, concentration, fund of knowledge, and language function. His memory is impaired, with recall one-third at 3 minutes. He has a normal past memory. His speech is normal. A cranial nerve examination reveals normal extraocular movements, increased blink rate, normal facial sensation, a symmetric face with abnormal fidgety movement, normal hearing, and normal palate movement. He has abnormal tongue movement and cannot protrude his tongue more than 20 seconds (darting tongue movement). He has normal shoulder shrug. No Kayser-Fleischer ring is noted during slit-lamp examination. An examination of the motor system reveals decreased muscle tone, normal bulk, and 5/5 strength in both upper and lower extremities. No atrophy or fasciculation is noted. Deep tendon reflexes are normal (2+ with flexor planters). Sensory examination findings are normal. Finger-nose test findings are normal. An examination of the extrapyramidal system reveals reduced tone and involuntary choreoathetoid movements that affect both upper and lower extremities as well as his face. He has a dancing gait. Diagnostic tests reveal normal complete blood cell count (CBC) and comprehensive metabolic panel findings. He has normal serum findings and urine copper levels. His erythrocyte sedimentation rate (ESR) is 22 mm/hr (reference range, 0-22 mm/hr). He has normal ECG findings, a normal thyroid-stimulating hormone (TSH) level, a normal transthoracic echo (with ejection fraction 65%), and normal chest radiography findings. Brain MRI can be used to evaluate for selective atrophy of deep gray structures, to document disease burden, and to provide a baseline for future comparison. Whole-body 18-FDG PET/CT may be used to screen for occult neoplasm and paraneoplastic chorea, but this is exceedingly rare and typically subacute. NMDA receptor antibody panel may be used to investigate for autoimmune encephalitic chorea, but the features of this (ie, seizures, psychosis, and autonomic instability) are absent in this case. RPR and FTA-ABS may be used to evaluate for neurosyphilitic chorea, but this is also very uncommon and unnecessary without risk factors or acute symptoms. In this patient, brain MRI reveals evidence of bilateral caudate atrophy, with increased intercaudate distance (Figure). Figure. Cerebrospinal fluid (CSF) examination findings are normal. Discussion This 35-year-old man has Huntington disease. He has insidious-onset, slowly progressive movement disorder, and movements are absent during sleep. His movements are described as choreoathetoid. He has family history that suggests autosomal dominant transmission. Apart from the movement disorder, he also has neuropsychiatric manifestations, with death at an early age in the family. A CT scan of the head revealed evidence of caudate nucleus atrophy. Brain MRI revealed evidence of caudate atrophy (Figure). Figure. In evaluating the differential diagnoses, the patient has no history of antipsychotic medication use to suggest tardive dyskinesia. He has no clinical or diagnostic evidence of infection or heart involvement, which makes Sydenham chorea unlikely. No acanthocytes were observed, helping to exclude neuroacanthocytosis. The strong family history of progressive abnormal movements and neuropsychiatric symptoms across generations supports a genetic etiology, specifically autosomal-dominant Huntington disease. Huntington disease is a rare neurodegenerative disorder of the central nervous system (CNS) characterized by choreiform movements, behavioral and psychiatric disturbances, and dementia.[1] Huntington disease is caused by an autosomal-dominantly inherited expansion of CAG trinucleotide repeats in the huntingtin ( HTT ) gene on chromosome 4; this leads to production of a mutant huntingtin (mHTT) protein, with an abnormally long polyglutamine repeat.[2] Individuals with more than 39 CAG repeats develop the disease, whereas reduced penetrance is seen in those with 36-39 CAG repeats. The disease can be anticipated when the gene is passed down the paternal line, as in this case; a father with a CAG repeat length in the intermediate range may have a child with an expanded pathogenic repeat length. This is because sperm from males shows greater repeat variability and larger repeat sizes than somatic tissues. Mutant huntingtin protein leads to death and neuronal dysfunction through various mechanisms. Postmortem studies reveal diffuse atrophy of the caudate and putamen. The progressive worsening of Huntington disease leads to a bedridden state with cognitive deterioration, and death typically occurs about 20 years after the onset of symptoms.[3] Prevalence in the white population is estimated at 1 in 10,000 to 1 in 20,000. The mean age at symptom onset is 30-50 years. In some cases, symptoms begin before age 20 years, with behavior disturbances and learning difficulties at school; this is termed juvenile Huntington disease (Westphal disease).[4] The first description, by Waters, dates to 1842. However, after a description in 1872 by George Huntington, it became known as Huntington chorea. In 1983, a linkage on chromosome 4 was established, and in 1993 the gene for Huntington disease was found.[1] Diagnosis of Huntington disease is confirmed by demonstration of autosomal dominant transmission or gene testing in the presence of clinical features.[5] The clinical features of Huntington disease consist of motor, cognitive, and neuropsychiatric manifestations. Huntington disease has a biphasic course of hyperkinetic phase with chorea in the early stages of disease that then plateaus into a hypokinetic phase, consisting of bradykinesia dystonia, balance issues, and gait disturbance. The younger-onset variant is associated with predominant bradykinesia.[6] Cognitive disturbance can be seen many years before other symptom onset and is characterized by impaired emotion recognition, processing speed, and executive function abnormality. Neuropsychiatric symptoms widely vary, including apathy, anxiety, irritability, depression, obsessive-compulsive behavior, and psychosis. A lack of awareness of early and progressing behavioral, cognitive, and motor symptoms is a hallmark of Huntington disease. This unawareness is caused by the disease itself (specifically, impaired insight or anosognosia) and is not the result of intentional denial, avoidance, or suppression of symptoms.[7] Therefore, a comprehensive history, including information from a knowledgeable family member/caregiver, is advisable.[7] Numerous conditions can mimic Huntington disease, including a spinal cerebellar ataxia 17, spinocerebellar ataxia 1-3, and Friedreich ataxia, which involve neuropathy. If seizures are also present, dentatorubropallidoluysian atrophy should be considered. Acanthocytes are seen in patients with neuroacanthocytosis.[8-10] Isolated chorea can be seen in acquired conditions, including chorea gravidarum, systemic lupus erythematosus, antiphospholipid syndrome, thyrotoxicosis, postinfectious syndromes, polycythemia vera, and some drug use. Genetic testing for the mHTT mutation can be either diagnostic or predictive.[6] A diagnostic test may be performed when a patient presents with typical motor features of Huntington disease. Prior to testing, the patient should be informed about Huntington disease and its hereditary nature, as a positive test result has implications for the patient and family. Predictive testing is performed in asymptomatic patients, mostly for reproductive reasons. Treatment of Huntington Disease The optimal management of Huntington disease involves a multidisciplinary approach that includes neurology, nurses, physical therapy, speech-language pathology, and dietitians and other healthcare professionals. The goal is to optimize the quality of life based on the changing need of the patient. These consist of combined pharmacologic and lifestyle changes, including behavioral therapy. Symptoms may be worsened by stress, fatigue, and intercurrent disorders (eg, anxiety, digestive disorders, infectious or painful conditions), so these aspects must be assessed and treated alongside the primary symptoms of Huntington disease.[3] In clinical practice, information about symptoms should be obtained from both the patient and caregivers, since patients may have impaired awareness of their condition.[11] Identifying coexisting psychiatric symptoms, comorbid medical conditions, and environmental factors is crucial.[11] Educating caregivers about the nature and presentation of symptoms and methods to modify triggers is also vital.[11] Medication choices should be guided by coexisting symptoms and disease stage, and regular reassessment of drug need and potential for dose reduction is important because of adverse effects that can mimic disease progression.[11] Nonpharmacologic interventions, including behavioral therapies and environmental modifications, should be prioritized for neuropsychiatric symptoms in Huntington disease. Pharmacologic agents may be considered if these measures are insufficient, and consultation with a psychiatrist knowledgeable in Huntington disease is recommended for individuals whose symptoms are resistant to standard pharmacologic therapy.[11] Tetrabenazine and its modified version, deutetrabenazine, are commonly used to treat choreiform movements. Side effects of tetrabenazine can include depression, anxiety, sedation, sleep problems, restlessness, and parkinsonism.[7] Citalopram is a selective serotonin reuptake inhibitor used to manage depression. Modafinil and atomoxetine are used to manage apathy. Tiapride, although unavailable in the United States, is considered a first-line treatment option for chorea outside the United States.[7] Other antipsychotics such as olanzapine, risperidone, and quetiapine are also used to manage chorea. Risperidone may also help with psychomotor restlessness, and olanzapine and quetiapine can have additional benefits like weight gain (which can be desirable in Huntington disease) and mood stabilization. Haloperidol has also shown effectiveness.[7] Medications used to suppress chorea (eg, tetrabenazine and deutetrabenazine and certain antipsychotics) should be used sparingly and mainly for subjectively disabling hyperkinesias, starting at low doses and titrating gradually. They make take 4-6 weeks to show results.[7] The choice of medication depends on the individual patient's symptoms, tolerability, and co-existing conditions.[7] Evidence regarding the treatment of psychiatric symptoms in Huntington disease is limited, with recommendations often based on expert opinion owing to a lack of robust controlled studies.[7,11] Nonpharmacologic interventions such as cognitive-behavioral therapy and psychodynamic therapy are recommended, especially for depression, anxiety, obsessive-compulsive behaviors, and irritability. Behavioral strategies (eg, structured routines and distraction) are important for managing irritability and agitation.[3,11] Depression: Selective serotonin reuptake inhibitors (SSRIs) such as citalopram, fluoxetine, paroxetine, sertraline, and venlafaxine are recommended as pharmacologic options. [3,7] Mianserin (unavailable in the United States) or mirtazapine are alternatives, particularly in patients with sleep disruption. [3,7,11] Electroconvulsive therapy (ECT) may be considered for severe or resistant cases, although it can significantly impair short-term memory. [3,7] Mianserin (unavailable in the United States) or mirtazapine are alternatives, particularly in patients with sleep disruption. Electroconvulsive therapy (ECT) may be considered for severe or resistant cases, although it can significantly impair short-term memory. Anxiety: SSRIs or serotonin-noradrenaline reuptake inhibitors (SNRIs) are first-line treatments, especially when anxiety coexists with depression. [3,11] Mirtazapine is an option in patients with sleep disorders. [11] Long-term use of benzodiazepines is generally discouraged for ambulatory individuals because of the risk of falls and dependence but can be used short-term or as needed. [3,11] Mirtazapine is an option in patients with sleep disorders. Long-term use of benzodiazepines is generally discouraged for ambulatory individuals because of the risk of falls and dependence but can be used short-term or as needed. Obsessive-compulsive behaviors/perseverations: For true obsessive-compulsive phenomena, SSRIs are considered first-line treatment. [3] Olanzapine and risperidone may also be valuable for ideational perseverations, particularly if associated with irritability. [3] Clomipramine is an option, especially if needed for coexisting obsessive perseverative behaviors. [11] Olanzapine and risperidone may also be valuable for ideational perseverations, particularly if associated with irritability. Clomipramine is an option, especially if needed for coexisting obsessive perseverative behaviors. Irritability and aggression: SSRIs are a first-line treatment. [3] For aggressive behavior, neuroleptics are recommended. [3,7] Mood stabilizers (eg, valproate, lamotrigine, lithium, carbamazepine) can be added if irritability is resistant to other treatments or for mood lability. Risperidone and olanzapine may help reduce irritability. [3,7] For aggressive behavior, neuroleptics are recommended. Mood stabilizers (eg, valproate, lamotrigine, lithium, carbamazepine) can be added if irritability is resistant to other treatments or for mood lability. Risperidone and olanzapine may help reduce irritability. Psychosis (hallucinations/delusions): Second-generation neuroleptics (antipsychotics) are the first-line pharmacologic treatment. [3,7,11] Options include olanzapine, risperidone, quetiapine, aripiprazole, and haloperidol. [7] Clozapine may be considered for severe or resistant cases, particularly in akinetic forms of Huntington disease but requires regular monitoring. [3,7,11] Underlying causes, such as the use of psychotropic agents or somatic triggers, should be investigated and addressed. [3,11] Options include olanzapine, risperidone, quetiapine, aripiprazole, and haloperidol. Clozapine may be considered for severe or resistant cases, particularly in akinetic forms of Huntington disease but requires regular monitoring. Underlying causes, such as the use of psychotropic agents or somatic triggers, should be investigated and addressed. Apathy: Personalized cognitive stimulation and structured routines and activities are recommended.[3,7,11] If depression is suspected as a contributor, an SSRI should be tried.[3,11] In patients without depression, activating antidepressants or stimulant drugs (eg, methylphenidate, atomoxetine, modafinil) may be considered.[11] Sedative medications may increase apathy, so their dosage should be monitored or reduced.[3,11] Currently, no pharmacological treatment is specifically recommended for cognitive symptoms in Huntington disease.[3,7] Rehabilitation strategies, including speech therapy, occupational therapy, cognitive and psychomotor therapy, may help transiently improve or stabilize cognitive functions.[3,7] Coping strategies can be useful as an alternative to medication. Certain medications, such as sedative drugs, neuroleptics, and tetrabenazine, can negatively affect memory, executive functions, and attention.[3] Apart from symptomatic treatment, pharmacologic agents have failed to show benefit in clinical trials as disease-modifying agents. The most promising approaches in regard to disease modification are emerging therapies aimed at lowering levels of mHTT by targeting either the DNA or RNA of the mHTT gene.[12] RNA-targeting using antisense oligonucleotides (ASOs) have shown disappointing results in clinical trials. This has shifted significant research focus and toward orally available small molecules that modify HTT mRNA splicing, thereby reducing mHTT protein production. DNA-targeting approaches using gene editing tools like CRISPR/Cas9, while demonstrating success in preclinical models, remain in the early stages of development.[13,14] The patient in this case was diagnosed with Huntington disease with CAG repeat 78. He was started on tetrabenazine for abnormal movements and citalopram for depression. He opted to apply for federal disability. His children are asymptomatic, and the family decided not to investigate until symptoms develop or they are age 18 years.
