The analysis reveals a common yet complex clinical scenario where a Neurology Clinical Specialist (NCS) must accurately assess a patient’s gait and balance to inform diagnosis and treatment. The professional challenge lies in differentiating between age-related changes, neurological pathology, and potential iatrogenic factors, all while ensuring the assessment is comprehensive, safe, and ethically sound. The patient’s history of falls, medication changes, and subjective reports of dizziness necessitate a systematic and evidence-based approach. The best professional practice involves a multi-faceted assessment that begins with a thorough subjective history, including the nature, frequency, and triggers of dizziness and falls, alongside a detailed review of current and recent medications. This is followed by objective measures, including standardized gait and balance assessments (e.g., Timed Up and Go, Berg Balance Scale, Functional Reach Test), observation of gait patterns, and specific neurological examination components relevant to balance (e.g., Romberg test, proprioception, vestibular screening). This comprehensive approach ensures that all contributing factors are considered, leading to a more accurate diagnosis and tailored intervention plan. This aligns with professional standards of care that mandate thorough patient evaluation and evidence-based practice. An incorrect approach would be to solely rely on the patient’s subjective report of dizziness without objective assessment. This fails to capture the underlying biomechanical or neurological deficits contributing to the imbalance and falls. It also neglects the crucial step of objectively measuring functional capacity, which is essential for tracking progress and evaluating treatment effectiveness. Such an approach risks misdiagnosis and ineffective management. Another professionally unacceptable approach is to proceed with a standardized gait and balance assessment without first reviewing the patient’s medication list. Certain medications, or changes in dosage, can significantly impact balance and coordination, leading to dizziness and falls. Failing to consider this potential iatrogenic cause before initiating other assessments can lead to erroneous conclusions about the patient’s underlying neurological condition and may result in inappropriate treatment recommendations. Finally, focusing exclusively on a single component of gait assessment, such as observing walking speed, without considering other crucial elements like stride length, base of support, and postural sway, is insufficient. This narrow focus overlooks the complex interplay of factors that contribute to safe and effective ambulation and balance. It fails to provide a holistic picture of the patient’s functional status and can lead to an incomplete or inaccurate assessment. Professional decision-making in such situations requires a systematic process: first, gather comprehensive subjective information; second, conduct a thorough objective physical examination, including standardized functional assessments; third, integrate findings from both subjective and objective data; and fourth, consider all potential contributing factors, including medications and underlying medical conditions, before formulating a diagnosis and treatment plan.

Scenario Analysis: This scenario is professionally challenging because it requires the clinician to differentiate between distinct types of traumatic brain injury (TBI) based on clinical presentation and mechanism of injury, each with potentially different prognoses and management strategies. Misclassification can lead to inappropriate treatment, delayed rehabilitation, and suboptimal patient outcomes. The clinician must integrate knowledge of TBI pathophysiology with the specific details of the patient’s accident. Correct Approach Analysis: The best professional practice involves a comprehensive assessment that integrates the mechanism of injury with the observed clinical signs and symptoms to infer the likely type of TBI. This approach prioritizes understanding the forces applied to the head and the resulting physiological effects. For a patient who experienced a direct blow to the head with localized neurological deficits and potential for focal bleeding, suspecting a contusion is appropriate. This aligns with the understanding that contusions result from direct impact causing bruising of brain tissue. The subsequent diagnostic steps, such as imaging, would then be guided by this initial clinical suspicion to confirm the presence and extent of the contusion. This systematic, evidence-based approach ensures that diagnostic and therapeutic interventions are targeted and effective. Incorrect Approaches Analysis: One incorrect approach would be to solely focus on the patient’s loss of consciousness and subsequent confusion without considering the specific mechanism of injury. While these symptoms can be present in various TBIs, neglecting the direct impact and localized tenderness would lead to a failure to prioritize the investigation of a focal injury like a contusion, potentially overlooking significant intracranial pathology. Another incorrect approach would be to immediately assume a diffuse axonal injury (DAI) based solely on the mechanism of rapid deceleration, without thoroughly evaluating for signs of focal injury. While DAI is characterized by shearing forces, it can coexist with or be overshadowed by focal injuries. A premature assumption of DAI might lead to overlooking a treatable contusion or hemorrhage. A further incorrect approach would be to dismiss the injury as a simple concussion without a thorough neurological examination and consideration of the impact’s force. A concussion is a functional disturbance, but the described impact and potential for localized tenderness warrant a more detailed investigation to rule out structural damage like a contusion. Professional Reasoning: Professionals should employ a structured diagnostic process. This begins with a detailed history, including the mechanism of injury and the patient’s subjective complaints. This is followed by a thorough physical and neurological examination, looking for focal deficits, signs of increased intracranial pressure, and evidence of external trauma. Based on this initial assessment, a differential diagnosis of TBI types is formed. The clinician then uses this differential to guide further investigations, such as neuroimaging, to confirm or refute the suspected diagnoses and inform the management plan. This iterative process ensures that all plausible diagnoses are considered and addressed appropriately.

Scenario Analysis: This scenario is professionally challenging because it requires the Neurology Clinical Specialist (NCS) to balance the immediate need for diagnostic information with the patient’s current state of distress and potential for exacerbating their condition. The patient’s anxiety and the potential for sensory overload necessitate a careful, individualized approach to the sensory system evaluation. The NCS must demonstrate clinical judgment in selecting the most appropriate method that minimizes patient discomfort while still yielding reliable data. Correct Approach Analysis: The best professional practice involves initiating the sensory system evaluation with a non-invasive, patient-centered approach that prioritizes comfort and minimizes sensory input. This includes starting with a detailed history of sensory disturbances, observing the patient’s responses to their environment, and then proceeding to simple, low-stimulus sensory testing such as light touch or proprioception in a quiet, controlled setting. This approach aligns with ethical principles of beneficence and non-maleficence, ensuring the patient’s well-being is paramount. It also adheres to best practice guidelines for neurological assessment, which advocate for a graded approach to testing, starting with less intrusive methods. Incorrect Approaches Analysis: One incorrect approach involves immediately proceeding with a comprehensive battery of sensory tests, including those involving potentially noxious stimuli like pinprick or temperature testing, without first assessing the patient’s tolerance or attempting to mitigate their anxiety. This disregards the patient’s current distress and the potential for iatrogenic harm, violating the principle of non-maleficence. It also fails to consider the impact of anxiety on the reliability of sensory testing, potentially leading to inaccurate results. Another incorrect approach is to postpone the sensory system evaluation indefinitely due to the patient’s anxiety, without exploring alternative, less distressing methods or seeking strategies to manage their anxiety. While patient comfort is crucial, completely avoiding a necessary diagnostic component without attempting to adapt the assessment can delay diagnosis and appropriate treatment, potentially contravening the principle of beneficence. A further incorrect approach is to rely solely on self-report of sensory symptoms without objective testing. While patient history is vital, subjective reports can be influenced by anxiety, misinterpretation, or memory recall issues. A comprehensive sensory evaluation requires objective assessment to confirm or refute subjective complaints and to precisely localize deficits. Professional Reasoning: Professionals should employ a systematic, patient-centered approach. This involves: 1) Thoroughly assessing the patient’s current state, including their level of distress and any factors that might influence the assessment. 2) Prioritizing patient comfort and safety, employing strategies to minimize anxiety and sensory overload. 3) Selecting assessment methods that are appropriate for the patient’s condition and tolerance, starting with less invasive techniques. 4) Gradually increasing the intensity or complexity of testing as tolerated, while continuously monitoring the patient’s response. 5) Documenting all assessment steps, patient responses, and the rationale for the chosen methods.

This scenario presents a professionally challenging situation due to the inherent complexity of managing acute neurological deficits while simultaneously initiating rehabilitation planning. The challenge lies in balancing immediate medical stabilization with the long-term functional recovery goals, requiring a multidisciplinary approach and careful consideration of patient autonomy and evidence-based practice. The urgency of the acute phase can sometimes overshadow the importance of early, appropriate rehabilitation interventions, leading to suboptimal outcomes. The best approach involves a coordinated, multidisciplinary team assessment that prioritizes immediate medical stabilization while concurrently identifying potential rehabilitation needs and initiating early, appropriate interventions. This approach is correct because it aligns with best practices in acute neurological care, emphasizing a holistic view of the patient’s recovery trajectory. Regulatory frameworks and professional guidelines for neurological care consistently advocate for early mobilization and rehabilitation to prevent secondary complications such as deconditioning, contractures, and pressure injuries, and to optimize functional recovery. Ethically, this approach respects patient autonomy by involving them in goal setting and decision-making regarding their rehabilitation as soon as medically feasible. It also adheres to principles of beneficence and non-maleficence by actively working towards the patient’s best interests and minimizing harm. An incorrect approach would be to delay comprehensive rehabilitation assessment and intervention until the patient is medically stable, focusing solely on acute medical management. This failure stems from a misunderstanding of the critical window for initiating rehabilitation in acute neurological conditions. Regulatory guidelines and evidence-based practice highlight that prolonged immobility in the acute phase can lead to irreversible functional decline. Ethically, this delay could be seen as a failure to provide timely and appropriate care, potentially violating the principle of beneficence. Another incorrect approach would be to implement a standardized, one-size-fits-all rehabilitation protocol without a thorough individual assessment of the patient’s specific neurological deficits, functional status, and personal goals. This approach is professionally unacceptable because it disregards the unique needs and potential of each patient. Regulatory standards emphasize individualized care plans, and ethical principles require tailoring interventions to the specific patient to ensure efficacy and respect for their autonomy. A further incorrect approach would be to solely rely on the patient’s family to dictate the rehabilitation plan without adequate input from the multidisciplinary team and the patient themselves (when able). While family involvement is crucial, professional responsibility dictates that the clinical team, with their expertise, leads the development of the rehabilitation strategy, ensuring it is evidence-based and aligned with the patient’s medical condition and recovery potential. This approach fails to uphold professional accountability and may lead to plans that are not medically appropriate or optimally beneficial. Professionals should employ a decision-making framework that begins with a rapid assessment of the patient’s immediate medical needs and risks. Simultaneously, a preliminary assessment of functional status and potential rehabilitation needs should be initiated. This should be followed by prompt consultation with the relevant rehabilitation specialists (e.g., physiotherapist, occupational therapist, speech pathologist) to develop an integrated care plan. Regular reassessment and communication among the multidisciplinary team, the patient, and their family are essential to adapt the plan as the patient’s condition evolves, ensuring a patient-centered and evidence-based approach to both acute management and rehabilitation.

The control framework reveals a complex scenario involving a patient with a history of a significant neurological event, requiring careful consideration of long-term management and secondary prevention strategies. This situation is professionally challenging due to the need to balance immediate patient needs with proactive, evidence-based interventions to mitigate future risks. The patient’s reluctance to engage with preventative measures adds a layer of ethical complexity, requiring a nuanced approach that respects autonomy while advocating for optimal health outcomes. The best professional approach involves a comprehensive, patient-centered strategy that integrates education, shared decision-making, and tailored interventions. This approach prioritizes understanding the patient’s concerns and barriers to adherence, then collaboratively developing a personalized plan that addresses modifiable risk factors. This aligns with ethical principles of beneficence (acting in the patient’s best interest) and respect for autonomy (involving the patient in their care decisions). It also adheres to clinical guidelines for secondary prevention in neurological conditions, which emphasize a holistic and individualized approach to risk factor management. An approach that focuses solely on prescribing medication without addressing the patient’s underlying concerns or exploring lifestyle modifications is professionally unacceptable. This fails to acknowledge the multifactorial nature of secondary prevention and may lead to poor adherence and suboptimal outcomes. It neglects the ethical imperative to understand and address patient barriers to care. Another professionally unacceptable approach is to dismiss the patient’s concerns and proceed with a rigid, directive plan. This disregards the principle of shared decision-making and can erode patient trust, making them less likely to engage with future recommendations. It also fails to recognize that effective long-term management requires patient buy-in and active participation. Finally, an approach that defers all responsibility for secondary prevention to the patient without providing adequate support, education, or collaborative planning is also professionally inadequate. While patient engagement is crucial, healthcare professionals have a responsibility to facilitate and support this engagement through clear communication, accessible resources, and ongoing monitoring. Professionals should employ a decision-making framework that begins with a thorough assessment of the patient’s condition, risk factors, and personal circumstances. This should be followed by open communication to understand the patient’s perspective, values, and concerns. Collaborative goal setting and the development of a shared, individualized care plan are essential. Regular review and adjustment of the plan based on patient progress and evolving needs are also critical components of effective long-term management.

This scenario presents a professional challenge due to the inherent complexity of neurological conditions and the potential for subtle but significant historical details to be missed. The patient’s cognitive impairment introduces an additional layer of difficulty, requiring the clinician to employ advanced communication and assessment skills to elicit accurate and comprehensive information. Careful judgment is paramount to ensure the patient receives appropriate and timely care, avoiding misdiagnosis or delayed intervention. The best professional approach involves a systematic and empathetic exploration of the patient’s symptoms, leveraging all available information sources while respecting patient autonomy and confidentiality. This includes a direct, yet sensitive, inquiry into the onset, nature, progression, and impact of the neurological symptoms. Crucially, it necessitates seeking collateral information from a trusted family member or caregiver, with the patient’s consent where possible, to corroborate the patient’s account and fill any gaps due to cognitive limitations. This multi-faceted approach ensures a holistic understanding of the patient’s condition, aligning with the ethical principles of beneficence and non-maleficence, and the professional standards of thoroughness expected in neurological assessment. An approach that focuses solely on the patient’s subjective report without seeking corroboration, despite evident cognitive impairment, fails to meet the standard of care. This omission risks incomplete or inaccurate data, potentially leading to misdiagnosis or suboptimal treatment plans, thus violating the principle of non-maleficence. Another unacceptable approach is to dismiss the patient’s reported symptoms due to their cognitive impairment without attempting to gather further information or involve a caregiver. This demonstrates a lack of empathy and a failure to recognize that even individuals with cognitive deficits can provide valuable insights into their own experiences. It also neglects the professional duty to explore all avenues for obtaining a complete history. Finally, an approach that prioritizes obtaining a complete history over the patient’s immediate comfort or dignity, for instance, by aggressively questioning the patient or caregiver in a manner that causes distress, is professionally unsound. While thoroughness is essential, it must be balanced with respect for the patient’s emotional well-being and the therapeutic relationship. Professionals should employ a decision-making framework that prioritizes patient-centered care, ethical considerations, and evidence-based practice. This involves active listening, open-ended questioning, and the judicious use of collateral information, always with the goal of obtaining the most accurate and complete picture of the patient’s condition while maintaining respect and dignity.

Scenario Analysis: This scenario is professionally challenging because the patient presents with a complex neurological condition and exhibits signs of distress and potential cognitive impairment. The Neurology Clinical Specialist (NCS) must balance the need for comprehensive information gathering with the patient’s vulnerability and potential communication barriers. Effective interview techniques are paramount to ensure accurate diagnosis, appropriate treatment planning, and patient safety, while also upholding ethical standards of care and respecting patient autonomy. The risk of misinterpreting symptoms or alienating the patient due to inappropriate questioning necessitates careful consideration of approach. Correct Approach Analysis: The best professional practice involves a patient-centered, empathetic, and structured approach. This begins with establishing rapport, clearly explaining the purpose of the interview, and using open-ended questions to encourage the patient to share their experiences in their own words. The NCS should actively listen, observe non-verbal cues, and use clarifying questions to ensure understanding. When cognitive impairment is suspected, the NCS should adapt their communication style, using simpler language, shorter sentences, and allowing ample time for responses, while also being prepared to involve a caregiver if necessary and consented to by the patient. This approach aligns with ethical principles of beneficence (acting in the patient’s best interest), non-maleficence (avoiding harm), respect for autonomy (empowering the patient), and justice (fair and equitable care). Regulatory frameworks emphasize the importance of obtaining informed consent and providing care that is tailored to the individual patient’s needs and capacities. Incorrect Approaches Analysis: One incorrect approach involves immediately launching into a rapid-fire series of detailed, closed-ended questions without first establishing rapport or assessing the patient’s current state. This can overwhelm a distressed or cognitively impaired patient, leading to inaccurate or incomplete information, and may be perceived as dismissive or impersonal, violating the ethical principle of respect for persons and potentially hindering effective care. Another incorrect approach is to assume the patient is unable to provide reliable information due to their neurological condition and to solely rely on a caregiver without attempting to engage the patient directly. While caregiver input is valuable, bypassing the patient entirely can undermine their autonomy and dignity, and may lead to missed nuances in their subjective experience of symptoms. This fails to uphold the ethical duty to involve the patient in their own care to the greatest extent possible. A third incorrect approach is to use overly technical jargon or complex sentence structures when questioning the patient, especially if cognitive impairment is suspected. This can lead to confusion, frustration, and misinterpretation of questions, resulting in unreliable data and potentially compromising the diagnostic process. This contravenes the ethical and professional obligation to communicate clearly and effectively with patients. Professional Reasoning: Professionals should employ a systematic decision-making process that prioritizes patient well-being and ethical conduct. This involves: 1) Initial assessment of the patient’s presentation, including their emotional state and apparent cognitive function. 2) Establishing a safe and trusting environment by introducing oneself, explaining the purpose of the interaction, and seeking consent. 3) Employing flexible and adaptive communication strategies, starting with broad, open-ended questions and progressively narrowing the focus as needed, while being prepared to adjust based on the patient’s responses and observed cues. 4) Actively listening and observing, seeking clarification, and summarizing to ensure accurate understanding. 5) Recognizing limitations and knowing when to involve other healthcare professionals or caregivers, always with patient consent where appropriate. This iterative process ensures that information gathering is both thorough and respectful of the patient’s individual circumstances.

The control framework reveals a scenario that is professionally challenging due to the inherent complexity of neurological conditions and the potential for subtle, yet significant, changes in a patient’s status. The specialist must navigate the patient’s subjective reporting of symptoms against objective clinical findings, while also considering the impact of the patient’s underlying condition and treatment regimen. Careful judgment is required to differentiate between expected disease progression, treatment side effects, and new, potentially emergent neurological issues. The correct approach involves a systematic and comprehensive review of systems, specifically tailored to the patient’s known neurological condition and any new complaints. This approach is correct because it adheres to best practices in neurological assessment, ensuring that all potential areas of concern are explored. By systematically inquiring about sensory changes, motor function, cognitive status, and autonomic symptoms, the specialist can build a complete picture of the patient’s current neurological state. This aligns with ethical obligations to provide thorough and individualized patient care, and regulatory expectations for comprehensive clinical assessment. It allows for the identification of subtle changes that might otherwise be missed, leading to timely and appropriate interventions. An incorrect approach would be to focus solely on the patient’s chief complaint without exploring other systems. This is professionally unacceptable because it risks overlooking other significant neurological deficits or systemic issues that may be contributing to the patient’s overall well-being or impacting their neurological status. It fails to meet the standard of comprehensive care expected of a specialist and could lead to delayed diagnosis or inappropriate treatment. Another incorrect approach would be to dismiss the patient’s reported symptoms as solely attributable to their known chronic condition without further investigation. This is professionally unacceptable as it demonstrates a failure to adequately assess the patient’s current presentation and could lead to the misattribution of new or worsening symptoms. It disregards the possibility of co-existing conditions or complications, violating the duty of care to thoroughly evaluate all reported symptoms. A further incorrect approach would be to rely solely on objective diagnostic tests without integrating the patient’s subjective experience. This is professionally unacceptable because neurological assessment requires a holistic view that combines subjective reporting with objective findings. Symptoms, even if not immediately apparent on standard tests, are crucial indicators of neurological function and patient experience, and their dismissal can lead to a significant gap in understanding the patient’s condition. The professional reasoning process for similar situations should involve a structured approach: first, actively listen to and validate the patient’s chief complaint; second, conduct a comprehensive review of systems, prioritizing areas relevant to the known condition and any reported symptoms; third, correlate subjective reports with objective clinical findings and diagnostic data; and finally, develop a differential diagnosis and treatment plan based on the integrated assessment, always prioritizing patient safety and well-being.

The control framework reveals that a Neurology Clinical Specialist (NCS) is tasked with assessing a patient presenting with new onset facial weakness and difficulty swallowing. This scenario is professionally challenging due to the potential for rapid neurological deterioration, the need for precise diagnostic information to guide immediate management, and the ethical imperative to provide timely and effective care. Careful judgment is required to select the most appropriate and efficient cranial nerve assessment strategy. The best professional practice involves a systematic and targeted cranial nerve examination focusing on those most likely affected by the presenting symptoms. This approach prioritizes the assessment of cranial nerves V, VII, IX, X, and XII, as these are directly implicated in facial sensation and motor function, swallowing, and tongue movement. This targeted approach is correct because it efficiently gathers the most relevant diagnostic information for the patient’s specific complaints, allowing for prompt identification of the underlying neurological deficit and initiation of appropriate interventions. It aligns with the professional duty of care to provide competent and timely assessment, minimizing diagnostic delay and potential harm. An incorrect approach would be to perform a complete, head-to-toe neurological examination without prioritizing the cranial nerves most relevant to the patient’s symptoms. This is professionally unacceptable because it is inefficient and delays the focused assessment needed for the presenting problem. While a comprehensive exam might eventually cover the relevant nerves, the delay in targeted assessment could compromise patient outcomes, especially in acute neurological conditions. This fails to demonstrate efficient clinical reasoning and resource utilization. Another incorrect approach would be to rely solely on patient self-report of symptoms without objective cranial nerve testing. This is professionally unacceptable as subjective reports, while important, are not a substitute for objective clinical findings. Cranial nerve deficits may not be fully appreciated or accurately described by the patient, and objective testing is crucial for diagnosis and management planning. This approach neglects the fundamental responsibility of the NCS to perform a thorough clinical assessment. A further incorrect approach would be to focus only on the cranial nerves associated with facial weakness (e.g., cranial nerve VII) and neglect other potentially involved nerves like those related to swallowing (e.g., cranial nerves IX and X). This is professionally unacceptable because the patient’s symptoms are multifactorial, and a fragmented assessment risks missing crucial diagnostic clues. Swallowing difficulties often involve multiple cranial nerves, and a comprehensive yet targeted approach is necessary to understand the full extent of the neurological impairment. The professional reasoning process for similar situations should involve: 1) Rapidly identifying the chief complaint and associated symptoms. 2) Formulating a differential diagnosis based on the presenting symptoms. 3) Selecting a diagnostic strategy that is both efficient and effective in gathering the most pertinent information to confirm or refute the differential diagnoses. 4) Prioritizing assessments that directly address the most concerning or potentially life-threatening aspects of the patient’s condition. 5) Integrating objective findings with patient history to guide further management.

Scenario Analysis: This scenario presents a professional challenge due to the inherent complexity of genetic predispositions in neurological disorders. The clinician must navigate the ethical considerations of genetic information, potential patient anxiety, and the need for accurate, evidence-based guidance without overstepping professional boundaries or causing undue distress. Balancing the desire for comprehensive information with the practicalities of genetic testing and its implications requires careful judgment. Correct Approach Analysis: The best professional approach involves a thorough exploration of the patient’s family history, focusing on any reported neurological symptoms or diagnoses, and then discussing the potential relevance of genetic factors in a sensitive and informative manner. This approach is correct because it prioritizes gathering essential clinical information directly related to the patient’s presenting concerns. It acknowledges the potential role of genetics without immediately jumping to invasive or potentially anxiety-provoking genetic testing. This aligns with ethical principles of patient autonomy and beneficence, ensuring that any subsequent discussions or recommendations regarding genetic counseling or testing are based on a solid understanding of the family’s medical history and the patient’s specific situation. It also respects the patient’s right to information and informed decision-making. Incorrect Approaches Analysis: Recommending immediate genetic testing for a broad range of neurological conditions without a detailed family history or specific clinical indicators is professionally unacceptable. This approach fails to adhere to the principle of proportionality, potentially subjecting the patient to unnecessary anxiety, cost, and the burden of interpreting complex genetic results that may not be clinically relevant to their current presentation. It also risks generating incidental findings that could cause distress without clear benefit. Suggesting that genetic factors are definitively responsible for the patient’s symptoms based solely on a vague family history, without further investigation or qualification, is also professionally unsound. This premature conclusion can lead to misdiagnosis, inappropriate patient expectations, and potentially unwarranted anxiety. It bypasses the crucial step of differential diagnosis and evidence gathering. Dismissing the relevance of family history entirely and focusing only on the patient’s current symptoms, without considering potential inherited predispositions, is professionally negligent. Family history is a cornerstone of neurological assessment and can provide vital clues to underlying etiologies, including genetic ones, that might otherwise be overlooked. This approach fails to utilize a critical diagnostic tool. Professional Reasoning: Professionals should employ a systematic approach that begins with a comprehensive patient assessment, including a detailed and targeted family history. This information should then be used to inform discussions about potential etiologies, including genetic factors, in a manner that is sensitive to the patient’s concerns and understanding. If genetic factors are suspected, the next step should be a referral to a genetic counselor or specialist for appropriate risk assessment, counseling, and discussion of testing options, ensuring that any testing is guided by clinical indication and patient consent.