Quality of Life in Individuals Affected by Arnold Chiari Malformation: Comparison and Validation of a Measurement Instrument.

BACKGROUND: Introduction. Arnold Chiari Malformation (ACM) type I is a pathology whose symptomatology has repercussions for the quality of life of those affected by it. Quality-of-life measurement instruments can allow the severity of the impact of Chiari type I malformation on patients' lives to be monitored. The Chiari Symptom Profile (CSP) is a valid and reliable instrument designed for this purpose. The aim of the study was to adapt the CSP to Spanish and to explore the reliability and validity of this construct in the context of Spanish-speaking patients with ACM. METHODS: The English CSP instrument has a good internal validity and consistency. We used a standardized procedure for the linguistic validation of the translated scale. For the psychometric validation, we recruited 215 individuals with ACM and calculated the Cronbach's alpha for the sample. The construct was validated by analyzing the age, sex, and presence of syringomyelia, as well as by correlating the results with the sickness impact profile 30 (SIP-30) questionnaire, which can also evaluate quality of life in this type of patient. RESULTS: The Spanish version of the CSP has good internal consistency and validity (Cronbach's alpha of 0.90); age, sex, and the presence of syringomyelia does not significantly affect the quality of life of patients with ACM. There was a direct and significant correlation between the Spanish CSP and the validated SIP-30 questionnaire results (p < 0.05). Further analysis showed a positive correlation for the physical and psychological scopes of the CSP and SIP-30 questionnaires, but not for their functional and social scopes. CONCLUSION: This version of the CSP is a valid and reliable instrument for measuring quality of life in patients with ACM in the Spanish context.

Espectro clínico y valor diagnóstico de los anticuerpos contra el complejo proteico asociado a canales de potasio / Clinical spectrum and diagnostic value of antibodies against the potassium channel related protein complex

Introducción: Los anticuerpos contra un complejo proteico que incluye a los canales de potasio dependientes de voltaje (CKVD) se han descrito en pacientes con encefalitis límbica, hiperexcitabilidad del nervio periférico, síndrome de Morvan, así como en un creciente grupo de síndromes neurológicos. Desarrollo: En este artículo revisamos los síndromes asociados a anticuerpos contra proteínas relacionadas con los CKVD y los 2 antígenos principales de este complejo, las proteínas leucine rich glioma inactivated protein 1 (LGI1) y contactin-associated protein-like 2 (Caspr2). Así mismo describimos los problemas conceptuales y las implicaciones diagnósticas de la descripción de anticuerpos contra CKVD diferentes de LGI1 y Caspr2. Aunque inicialmente se consideró que existían anticuerpos dirigidos contra CKVD, recientemente se ha identificado que, en la mayor parte de los casos, los antígenos son una proteína neuronal secretada denominada LGI1, involucrada en el control de la excitabilidad sináptica, y la proteína Caspr2, localizada en la superficie neuronal de varias regiones cerebrales y en la región yuxtaparanodal de axones mielinizados. Mientras que los anticuerpos contra LGI1 se asocian preferentemente a un cuadro clásico de encefalitis límbica, los anticuerpos contra Caspr2 muestran un espectro clínico más amplio, incluyendo el síndrome de Morvan, la hiperexcitabilidad del nervio periférico o neuromiotonía, o una encefalitis límbica o difusa. Existen además casos descritos de pacientes con anticuerpos contra el complejo CKVD que no tienen anticuerpos contra LGI1 o Caspr2. En estos casos, la identidad y la localización de los antígenos es desconocida, la asociación sindrómica inespecífica y la respuesta al tratamiento, incierta. Conclusiones: El descubrimiento de los antígenos LG1 y Caspr2 ha permitido delimitar clínica y molecularmente el amplio grupo de síndromes previamente atribuidos a anticuerpos contra CKVD. Frente a la literatura que describe la presencia de anticuerpos contra CKVD diferentes a LGI1 y Caspr2, proponemos un algoritmo práctico para el diagnóstico y el tratamiento de estos pacientes

Introduction: Antibodies against a protein complex that includes voltage-gated potassium channels (VGKC) have been reported in patients with limbic encephalitis, peripheral nerve hyperexcitability, Morvan's syndrome, and a large variety of neurological syndromes. Review summary: In this article, a review is presented of the syndromes associated with antibodies against VGKC-related proteins and the main antigens of this protein complex, the proteins LGI1 (leucine rich glioma inactivated protein 1) and Caspr2 (contactin-associated protein-like 2). The conceptual problems and clinical implications of the description of antibodies against VGKC-related proteins other than LGI1 and Caspr2 are also discussed. Although initial studies indicated the occurrence of antibodies against VGKC, recent investigations have shown that the main antigens are a neuronal secreted protein known as LGI1 which modulates synaptic excitability, and a protein called Caspr2 located on the cell surface and processes of neurons of different brain regions, and at the juxtaparanodal region of myelinated axons. While antibodies against LGI1 preferentially associate with classical limbic encephalitis, antibodies against Caspr2 associate with a wider spectrum of symptoms, including Morvan's syndrome, peripheral nerve hyperexcitability or neuromyotonia, and limbic or more extensive encephalitis. In addition there are reports of patients with antibodies against VGKC-related proteins that are different from LGI1 or Caspr2. In these cases, the identity and location of the antigens are unknown, the syndrome association is not specific, and the response to treatment uncertain. Conclusions: The discovery of antigens such as LGI1 and Caspr2 has resulted in a clinical and molecular definition of the broad group of diseases previously attributed to antibodies against VGKC. Considering the literature that describes the presence of antibodies against VGKC other than LGI1 and Caspr2 proteins, we propose a practical algorithm for the diagnosis and treatment of these patients

[Evaluation of the quality of life of patients with a Chiari type I malformation. A pilot study in a cohort of 67 patients]. / Evaluación de la calidad de vida en los pacientes con una malformación de Chiari tipo I. Estudio piloto en una cohorte de 67 pacientes.

INTRODUCTION: The Chiari type I malformation (CM-I) is a low prevalence disorder whose manifestations vary highly, depending on the associated malformative complex. The people with a CM-I can suffer anxiety, depression symptoms and an un-defined loss of quality of life. The main purpose of this study is to establish the impact of CM-I on quality of life, as well as the presence of anxiety and depression in these patients. PATIENTS AND METHODS: Prospective study of a cohort of 67 patients suffering from CM-I who undergo an evaluation by means of the SIP scale (Sickness Impact Profile), STAI (State-Trait Anxiety Inventory) and BDI (Beck's Depression Inventory) of their quality of life and of the presence of anxiety and depressive symptoms respectively. For every patient the degree of cerebellar tonsillar ectopia and the presence of syringomyelia and/or hydrocephalus were registered. RESULTS: The impact of the CM-I on the quality of life was none for 6 patients (9%), mild for 36 (53.7%), moderate for 17 (25.4%) and severe for 8 (11.9%). The most affected area of activity was work. A total of 86.6% of the patients presented a moderate or high anxiety level. In 25.4% of the patients moderate or severe depressive symptoms were also acknowledged. CONCLUSIONS: The great majority of patients with a CM-I consider that their disorder implies a loss of their quality of life which, in many cases, is associated with high anxiety and depressive symptoms.

Evaluation of quality of life parameters in patients who have syringomyelia.

Syringomyelia is a centromedullary syndrome that can be treated conservatively or with various neurosurgical procedures. We hypothesized that different clinical subgroups of patients exist, which would necessitate the need for individualised neurosurgical intervention and maintenance to achieve optimal quality of life (QoL). Using both the short-form 36-item (SF-36) questionnaire and the Syringomyelia Disability Index, clinical and QoL data was prospectively assessed in 142 patients with syringomyelia. Cluster analysis was then performed on the subscale results of the SF-36. The SF-36 scores of those with syringomyelia were significantly lower than those of the general German population, as well as when compared to those patients suffering from other chronic diseases. The SF-36 scores were independent of the syringomyelia patients' underlying syrinx pathology. Cluster analysis of the QoL patterns revealed four indicative patient groups. Syringomyelia is a chronic, progressive disease, and the syrinx itself appears to be the source of the symptoms, rather than the underlying pathology. The identified QoL subgroups in syringomyelia patients indicate the necessity of appropriate diagnosis and treatment of the pathology so that expansion of the syrinx cavity is reduced, maintaining QoL and functionality of these patients.

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.

The nature, meanings, and dynamics of lived experiences of a person with syringomyelia: a phenomenological study.

Syringomyelia, considered a rare neurological disease, is relatively uninvestigated in the nursing literature. The aims of this qualitative phenomenological case study were to discover the nature, meanings, and dynamics of lived experiences of a 52-year-old Caucasian male with syringomyelia. Using van Manen's Method of Phenomenological inquiry (van Manen, 1990), data were collected, checked, and analyzed according to the philosophy, approach, and methodological procedures of phenomenology. Findings revealed an overarching theme of engulfment by disease. Essential themes included loss of abilities, struggles to adapt to changes, and life as a person who was disabled. Eleven sub-themes were also identified. Implications for nursing practice are discussed.

Postural tachycardia syndrome in syringomyelia: response to fludrocortisone and beta-blockers.

Orthostatic intolerance is occasionally reported by patients with syringomyelia and is usually attributed to vestibular symptoms or neurogenic orthostatic hypotension. Postural tachycardia syndrome has not been previously described in syringomyelia. A patient with long-standing syringomyelia and a Chiari type I anomaly developed disabling "panic-like" attacks associated to orthostatic intolerance five years after posterior fossa decompression and shunting of the syrinx. A head-up tilt test showed an early phase of postural orthostatic tachycardia followed by progressive arterial hypotension and bradycardia as seen in neurally mediated syncope. A magnetic resonance imaging scan showed a collapsed syrinx from the 3rd cervical to the 12th thoracic vertebra without syringobulbia. Fludrocortisone and beta-blockers led to resolution of symptoms. Partial sympathetic denervation of the legs in syringomyelia might explain the occasional occurrence of postural tachycardia syndrome. Postural tachycardia syndrome may be included as a possible cause of orthostatic symptoms in syringomyelia patients.

[Suprasegmental autonomic regulation in syringomyelia patients and its alteration during radionuclide therapy]. / Sostoianie nadsegmentarnoi vegetativnoi reguliatsii u bol'nykh siringomieliei i ee izmenenie pri radionuklidnoi terapii.

Limbic-reticular dysfunction due to pathologic rearrangement in functional intracentral relations was evidenced in 85 syringomyelic patients. The dysfunction was initiated by the syringomyelic inflicted focus within the brainstem (syringobulbia) or spinal cord. Displayed were the psychoemotional, unspecific activational and hemodynamic correlates of this pathophysiological phenomenon. This is the first description of the radioactive iodine positive effect on limbic-reticular dysfunction in syringomyelia.