Functional Neurological Disorders: Are We Missing the Diagnosis?
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Gerry Gajadharsingh writes:
“One of the most common and frustrating scenarios in clinical practice is the patient who has undergone extensive investigations, seen multiple specialists and been told repeatedly that “all the tests are normal” despite continuing to experience very real symptoms.
These patients may present with headaches, dizziness, fatigue, abdominal pain, tremor, weakness, sensory disturbances, cognitive difficulties or a wide range of other symptoms that significantly affect their quality of life. The traditional medical approach has often been to search for structural disease through scans, blood tests and specialist investigations. When these fail to identify a clear pathology, patients can be left feeling confused, dismissed or labelled as having symptoms that are “all in the mind.”
However, our understanding of Functional Neurological Disorders (FND) has changed considerably over recent years. Rather than representing an absence of disease, FND is increasingly recognised as a disorder of function — a problem with how neural networks and regulatory systems are operating rather than a structural abnormality that can be seen on a scan or blood test.
This distinction is important. The symptoms experienced by patients with FND are genuine, often disabling and can have a profound impact on education, employment, relationships and mental wellbeing. Modern neuroscience suggests that these conditions arise from alterations in brain function and communication rather than tissue damage. In many respects, this represents a shift away from asking, “What structure is damaged?” towards asking, “How is the system functioning?”
From an integrated medicine perspective, this evolving understanding is particularly interesting. Many of the factors now being investigated in FND — chronic stress, adverse life experiences, sleep disruption, autonomic nervous system dysregulation, nutritional factors and altered physiological regulation — are the very factors that clinicians working with complex patients frequently encounter. The challenge is recognising the pattern early enough to avoid years of unnecessary investigations and increasing patient frustration.
Recent evidence suggests that earlier recognition and intervention are associated with significantly better outcomes. The question therefore becomes not whether these patients have a real disorder, but whether clinicians are recognising the signs soon enough.
Acceptance of the diagnosis remains one of the greatest challenges in the management of Functional Neurological Disorder. Many patients have often spent months or years searching for a structural explanation for their symptoms, making it difficult to accept a diagnosis based on altered nervous system function rather than tissue damage. Studies suggest that failure to understand or accept the diagnosis is associated with poorer engagement with treatment and worse long-term outcomes.”
Functional Neurological Disorders in Children
Although Functional Neurological Disorder (FND) is often associated with adults, it is increasingly recognised in children and adolescents. At least 15-20% of children attend specialist neurological clinics with FND. Symptoms may begin as early as five or six years of age, although presentation is more common during the pre-teen and teenage years, particularly in girls. Children with FND may present with headaches, abdominal pain, fatigue, dizziness, tremors, weakness, gait disturbances, non-epileptic seizures or a variety of other symptoms that can significantly disrupt school attendance, social development and family life. Importantly, these symptoms are genuine and involuntary, despite the absence of structural abnormalities on conventional medical investigations.
Modern research supports a biopsychosocial model in which biological vulnerability interacts with factors such as chronic stress, adverse life experiences, sleep disruption, anxiety and difficulties within the child’s social environment. Rather than representing a single disease process, FND appears to emerge from a complex interaction between the developing nervous system and the child’s lived experiences.
The encouraging news is that children generally have a better prognosis than adults, particularly when the condition is recognised early and managed using a multidisciplinary approach involving medical, psychological, family and rehabilitation support. Studies suggest that prompt diagnosis and treatment can lead to substantial improvement or complete recovery in a large proportion of children. Unfortunately, delayed diagnosis can result in prolonged disability, educational disruption, family distress and an increased risk of symptoms persisting into adulthood.
For this reason, many experts now advocate moving away from a diagnosis of exclusion and towards the early recognition of characteristic clinical patterns. The earlier the diagnosis is explained and understood by both the child and their family, the greater the opportunity for recovery and a return to normal developmental activities.”
Clinical Disclaimer
This article is intended for educational and informational purposes only. It does not constitute medical advice and should not replace individual consultation with a qualified healthcare professional.
Functional Neurologic Disorders: Are Signs Being Missed?
Maria Cristina Valsecchi
Medscape
Children with headaches, abdominal pain, tremors, fatigue, or other unexplained symptoms often spend years undergoing specialist consultations, diagnostic testing, and repeated evaluations before receiving a frustrating conclusion: No organic cause can be identified.
Many of these children have a functional neurologic disorder (FND), which refers to a neurologic condition caused by changes in how brain networks work, rather than changes in the structure of the brain itself, as seen in many other neurologic disorders.
Earlier, FND was diagnosed only after excluding all possible organic causes. However, growing evidence is changing this approach. Experts increasingly advocate diagnoses based on positive clinical features, allowing for earlier recognition and treatment.
This shift is particularly important because early intervention is associated with better recovery and improved quality of life.
Agnese Suppiej, MD, PhD, specializing in Pediatrics and Child Neurology and Psychiatry, and professor of pediatrics from the University of Ferrara, Ferrara, Italy, discussed the evolving approach during the National Congress of the Italian Society of Paediatrics, held May 26-29 in Padua, Italy.
Evolving Understanding
“The terminology has changed considerably over time,” Suppiej said. “These conditions were previously referred to as psychosomatic disorders, hysterical conversion, or medically unexplained symptoms and were sometimes stigmatized as feigned illnesses. As scientific evidence accumulated, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders introduced the term functional neurologic symptom disorder, shifting attention for the first time toward dysfunction rather than the absence of a structural cause.”
Several research groups are currently investigating the mechanisms underlying FND.
“We are still far from reaching a general consensus,” Suppiej said. “Current theories suggest a multifactorial origin based on a biopsychosocial model that combines genetic or early acquired biologic vulnerability with psychosocial predisposing factors.”
Potential contributors include trauma, repeated minor traumatic experiences, chronic stress, poor nutrition, and disruptions in sleep-wake rhythms.
Symptoms can appear as early as 5 or 6 years of age, although onset is more common during preadolescence and adolescence.
“We also cannot exclude continuity with functional disorders seen during early childhood, such as infant colic and sleep disturbances,” Suppiej added.
Diagnostic Delays Can Worsen Outcomes
The shift from diagnosis by exclusion to diagnosis based on the recognition of characteristic symptoms has not yet become routine practice. Consequently, some patients remain caught in a prolonged diagnostic cycle. They develop symptoms affecting a specific organ system and are referred to the relevant specialist who conducts tests and evaluations but finds no identifiable organic cause. Over time, families may lose confidence in their physicians’ ability to reach a diagnosis.
“Then the symptoms change and involve a different organ system, leading to referral to another specialist, and the entire process starts again,” Suppiej explained.
According to available data, approximately 23% of children with FND continue to experience symptoms into adulthood.
“Prognosis worsens when diagnosis is delayed, partly because of the stress and frustration associated with a prolonged and inconclusive search for answers,” she said.
As patients grow older, psychiatric comorbidities may emerge, particularly depression, which is associated with social withdrawal. Hyperactivity and oppositional behaviors may also occur.
“Diagnostic timelines can be substantially shortened when clinicians move away from a process of elimination and instead focus on recognizing characteristic symptom patterns,” Suppiej said.
Recognizing the Signs
What clinical features should raise suspicion of an FND?
According to Suppiej, one of the most important clues is a mismatch between the patient’s reported symptoms and observed behavior.
For example, a child may complain of a severe headache yet appear comfortable and play normally in the waiting room before the appointment. Other features include symptoms that change rapidly, sometimes even during the same visit, and variations in how the symptoms are described when reported to different people. Symptoms may also lessen or disappear when the patient’s attention is redirected, such as a hand tremor that improves during physician-guided movements. Additional clues include worsening of symptoms during periods of stress and the presence of multiple symptoms affecting different organ systems, such as abdominal pain accompanied by limb tremors.
The Pediatrician’s Role
According to Suppiej, family pediatricians are often best positioned to identify FND early because they know the child, family, and medical history.
“They can consult a pediatric neurologist to confirm the suspected diagnosis,” she said.
Communication with family members is particularly important.
“It is essential to explain that the symptoms are real and that they affect the child’s functioning and quality of life,” Suppiej emphasized.
Families often accept a diagnosis of an organic disease more readily than a diagnosis of FND, and failure to accept the diagnosis can negatively affect outcomes.
Current evidence suggests that the most effective treatments combine cognitive behavioral interventions with strategies aimed at reducing exposure to stress.
Suppiej reported having no relevant conflicts of interest.
This story was translated from Univadis Italy Univadis Italy , part of the Medscape Professional Network.