Patient-reported Chiari malformation type I symptoms and diagnostic experiences: a report from the national Conquer Chiari Patient Registry database

Abstract

Chiari malformation (CM) is a condition in which cerebellar tonsillar ectopia may manifest with various clinical presentations. This study reports from the only national, online patient registry available, the symptoms, comorbid neurocognitive and psychological conditions, and diagnostic experiences of patients living with CM type I (CM I). The current research is one component of a large investigation designed to collect information from individuals with CM through the online Conquer Chiari Patient Registry questionnaire. Analyses included descriptive statistics to study body system impact and patient diagnostic experiences. Participants were 768 individuals with CM I and were predominantly female (86.8 %) and Caucasian (93.8 %) with an average age of 35 years. Pain was the most frequently reported symptom (76.69 %) experienced prior to diagnosis with headaches implicated most often (73.44 %). Neurocognitive comorbidities included memory difficulties (43.88 %) and aphasia (43.75 %) and psychological disorders such as depression (31.77 %) and anxiety disorders (19.92 %) were reported. Average time to diagnosis from first physician visit to diagnosis was 3.43 years, and only 8.46 % of patients had previous awareness of CM. CM I diagnosis was found incidentally for 24.87 % of participants. Common misdiagnoses were classified as psychological (19.26 %) and neurological (19.26 %). Fear was the most frequent emotion elicited at the time of correct diagnosis (42.19 %). CM I can be a challenging condition for patients and physicians, during both the search for diagnosis and management of symptoms. Patient and physician education about CM I may permit early intervention and the prevention of further deterioration and patient suffering.

Questionnaire‐based Analysis of Owner‐reported Scratching and Pain Signs in Cavalier King Charles Spaniels Screened for Chiari‐like Malformation and Syringomyelia

“…This condition of dogs has similarities to Chiari‐type 1 malformation in humans, characterized by caudal herniation of the cerebellar tonsils below the foramen magnum and also frequently associated with SM . Clinical presentation in humans is variable but manifestations of neuropathic pain dominate including headaches, neck pain, and burning sensations of the upper extremities …”

“…9 Clinical presentation in humans is variable but manifestations of neuropathic pain dominate including headaches, neck pain, and burning sensations of the upper extremities. 10 Characterizing the signs of CMSM in dogs is challenging because of the difficulty of inferring signs of pain from behavior in dogs. Owners report that affected dogs cry out in pain; exhibit phantom scratching of the neck, flank, and ear (importantly, the paw does not make contact with the skin), rub their face, neck, or ear; and show other more insidious signs such as reluctance to play, jump, or lower their head to eat.…”

Prevalence of Psychiatric Diagnoses in Pediatric Chiari Malformation Type 1

“…Additionally, rates of autism spectrum disorders (3.5%) and bipolar disorders (2.3%) in our pediatric sample were greater than national prevalence rates that approach 1% for both disorders [22]. The recent Conquer Chiari online survey of adults with CM1 [11] revealed that about one-third of adults with CM1 reported suffering from depression, and 20% endorsed clinical anxiety. While our findings are based on family report and record review, these rates are consistent with the study by Bakim et al [10], who documented a 44% rate of psychiatric disorders in an adult CM1 sample using a standardized clinical interview format.…”

“…In a recent study, Bakim et al [10] documented a high incidence of psychiatric disorders in a small sample of postsurgical adults with CM1. Also, a recent online survey targeting adults with CM1 revealed a high rate of self-reported mood disorders [11]. Additionally, published case reports have documented anxiety disorders [12][13][14] and psychosis associated with CM1 [15].…”

Investigation of sensory thresholds in Cavalier King Charles Spaniels with and without Chiari‐like malformations and syringomyelia

“…Chiari‐type 1 malformation in humans also is commonly associated with the development of SM, with an estimated 65%‐80% of patients developing both conditions 12, 13. People with CM1 describe a wide range of signs including numbness, neck pain, headaches, memory loss, aphasia, and even depression 14. Pain and sensory deficits in human CM1 patients have been quantified using thermal and mechanical sensory testing, and patient drawn pain maps 14, 15, 16, 17.…”