The Chiari Symptom Profile: development and validation of a Chiari-/syringomyelia-specific questionnaire.

OBJECTIVE: The Chiari Symptom Profile (CSP) was developed to provide a quantitative assessment of self-reported Chiari (CMI)-related symptoms and their impact on the individual's quality of life. METHODS: The instrument was developed in three phases. Phase I consisted of instrument development using exploratory item analysis from the literature and direct patient evaluations. The item pool was then analyzed and tested on a convenience sample of eight CMI patients. Interitem correlation matrix suggested redundancy of 13 questions. These items were discarded, resulting in a final questionnaire consisting of 57 items, measuring four realms: physical, functional, psychological, and social. Phases II and III tested the reliability and validity of the instrument using a large sample of patients diagnosed with Chiari/syringomyelia. RESULTS: Statistical analysis confirmed that the CSP has excellent validity and reliability with a Cronbach's alpha of .958 (p = .0001) and factor loadings ranging from .784 to .321. CONCLUSION: The CSP is a self-reported, Chiari-/syringomyelia-specific instrument intended to provide a quantitative analysis of symptoms and their impact on the individual's quality of life. The CSP has shown statistically significant content validity, internal consistency, and test-retest reliability. The CSP will enhance the provider's understanding of Chiari-/syringomyelia-related symptoms, quantify the impact of self-reported symptoms on quality of life, help to determine if interventions are of benefit, and allow comparison of symptomatic improvement/outcome following different surgical techniques.

Posterior fossa decompression and reconstruction in adolescents and adults with the Chiari I malformation.

OBJECTIVE: The purpose of this paper is to review the current and historical surgical approaches to treating Chiari I malformation in adolescents and adults. METHODS: A PubMed literature review and the author's own surgical experiences serve as a basis for discussing the variability in the surgical treatment of the Chiari I malformation. RESULTS: The most common treatment of the Chiari I malformation is posterior fossa decompression, which can range from a minimally invasive extradural approach to durotomy, duraplasty, internal decompression, and cranioplasty. Other surgical procedures may be required depending on the presence of associated conditions such as hydrocephalus, severe basilar invagination, or craniocervical instability. CONCLUSIONS: There is no consensus on the procedural steps that lead to a consistently favorable outcome. However, the growth in surgical research in this field should allow better selection of the most effective surgical approach for each patient.

Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15.

Chiari type I malformation (CMI; OMIM 118420) is narrowly defined when the tonsils of the cerebellum extend below the foramen magnum, leading to a variety of neurological symptoms. It is widely thought that a small posterior fossa (PF) volume, relative to the total cranial volume leads to a cramped cerebellum and herniation of the tonsils into the top of the spinal column. In a collection of magnetic resonance imagings (MRIs) from affected individuals and their family members, we measured correlations between ten cranial morphologies and estimated their heritability in these families. Correlations between bones delineating the PF and significant heritability of PF volume (0.955, P = 0.003) support the cramped PF theory and a genetic basis for this condition. In a collection of 23 families with 71 affected individuals, we performed a genome wide linkage screen of over 10,000 SNPs across the genome to identify regions of linkage to CMI. Two-point LOD scores on chromosome 15 reached 3.3 and multipoint scores in this region identified a 13 cM region with LOD scores over 1 (15q21.1-22.3). This region contains a biologically plausible gene for CMI, fibrillin-1, which is a major gene in Marfan syndrome and has been linked to Shprintzen-Goldberg syndrome, of which CMI is a distinguishing characteristic. Multipoint LOD scores on chromosome 9 maximized at 3.05, identifying a 40 cM region with LOD scores over 1 (9q21.33-33.1) and a tighter region with multipoint LOD scores over 2 that was only 8.5 cM. This linkage evidence supports a genetic role in Chiari malformation and justifies further exploration with fine mapping and investigation of candidate genes in these regions.

Chiari I malformation with or without syringomyelia and pregnancy: case studies and review of the literature.

Women with Chiari I malformation with or without syringomyelia are of particular concern because of the potential risk of increased intracranial pressure during pregnancy and delivery. The following questions are most often asked in the clinical setting: Is it safe to have a planned pregnancy? Will the symptoms become worse or recur during pregnancy and will the baby be normal? Seven patients with Chiari I malformation, with and without syringomyelia, submitted checklists of self-reported symptoms experienced during pregnancy, labor, and postpartum. Seven patients with Chiari I malformation with and without syringomyelia were queried for symptoms during pregnancy, labor, and postpartum. None of the patients reported significant increase or recurrence of Chiari-related symptoms during delivery or postpartum. Four of the women had epidural anesthesia for delivery and reported no related symptoms. This series represents a small number of women with Chiari I malformation who had uncomplicated pregnancy, labor, and delivery.

Prospective analysis of self-perceived quality of life before and after posterior fossa decompression in 112 patients with Chiari malformation with or without syringomyelia.

OBJECT: The purpose of this prospective study was to determine if there was a difference in the self-perceived quality of life (QOL) before and after surgery among patients with Chiari I malformations with or without syringomyelia. Most patients with Chiari I malformations report improvement in their QOL after decompression surgery; however, specific outcome data have not been empirically studied in this patient population. METHODS: One hundred seventy-two consecutive patients who underwent posterior fossa decompression based on neuroimaging evidence of a Chiari I malformation with or without syringomyelia were prospectively offered participation in the study. The Sickness Impact Profile (SIP) was chosen as the instrument for data collection. Completed questionnaires were returned by 112 patients. A statistically significant improvement (p < 0.0001) in SIP scores (self-reported QOL) was noted in 84% of participants after decompression surgery. Patient age, amount of tonsillar herniation, and evidence of syringomyelia before surgery did not correlate with or adversely affect outcomes. Among 16 participants who reported worsening in their QOL, anecdotal information revealed extraneous factors unrelated to the Chiari I malformation that they perceived as negatively influencing their outcome. Among the extraneous variables noted by the participants were general health status, unrelated injury, other illnesses, and significant stress. CONCLUSIONS: The majority of participants who underwent posterior fossa surgery for a Chiari I malformation reported significant improvement in their QOL after surgery.

Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report.

Achondroplasia has been associated with varying degrees of cervicomedullary and spinal compression, although usually in the pediatric population. Large arachnoid cysts have also been found to result in tonsillar herniation and syringomyelia. The authors present the case of a patient with achondroplasia who presented with symptoms of foramen magnum compression and syringomyelia, and who was subsequently found to have a large posterior fossa arachnoid cyst. This 38-year-old woman with achondroplasia presented with an 8-month history of headache and numbness of the hands and fingers. Admission magnetic resonance (MR) imaging of the head and spine revealed a large arachnoid cyst in the posterior cranial fossa, a 6-mm tonsillar herniation consistent with an acquired Chiari malformation, and a large cervicothoracic syrinx. The patient was treated using suboccipital craniectomy, C-1 laminectomy, fenestration of the arachnoid cyst, and decompression of the acquired Chiari malformation with duraplasty. Surgical decompression resulted in improvement of the presenting symptoms, adequate decompression of crowding at the foramen magnum, and resolution of the syrinx. Although there was only partial reduction in the retrocerebellar cisternal space on follow-up MR imaging, no residual symptoms were related to this.

Prospective analysis of presenting symptoms among 265 patients with radiographic evidence of Chiari malformation type I with or without syringomyelia.

OBJECTIVE: To characterize the presenting symptoms among persons with radiographic evidence of Chiari malformation (CM) type I in an effort to help the primary care provider determine accurate diagnosis and treatment. METHODS: The symptoms of CM can often be vague and ambiguous, leading to misdiagnosis. Patients who had radiographic evidence of CM with or without syringomyelia were prospectively studied. The detailed symptom data were collected from patient reports at initial examination to determine if there was a pattern of symptoms typically attributable to the CM. RESULTS: Analysis of presenting symptoms among 265 patients demonstrated a distinct pattern of symptom constellation. This study reports a prospective analysis of presenting symptoms among 265 patients with radiographic evidence of CM with or without syringomyelia and defines a common presentation pattern. Recognition of typical symptoms attributable to CM can result in appropriate diagnostic workup, accurate diagnosis, and timely treatment, leading to improved patient outcomes.