Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso

Los Síndromes Periódicos Asociados a la Criopirina (CAPS) son un espectro de síndromes autoinflamatorios tratables considerados enfermedades huérfanas y raras, que suponen un enorme costo para el sistema de salud, producen inflamación sistémica y meningitis aséptica crónica, independientemente de su...

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Autores:: Asprilla Barrios, Stephanía del Carmen

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Fecha de publicación:: 2025

Institución:: Universidad de San Buenaventura

Repositorio:: Repositorio USB

Idioma:: spa

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dc.title.spa.fl_str_mv	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso
title	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso
spellingShingle	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso 150 - Psicología::155 - Psicología diferencial y del desarrollo Mecanismo genético Sistémica crónica Sistema nervioso Estudio de caso Síndromes Periódicos Asociados a la Criopirina Criopirinopatía Síndrome de Muckle Wells Perfil neuropsicológico Desempeño Cognitivo Case Study Cryopyrin-Associated Periodic Syndromes Cryopyrinopathy Muckle Wells Syndrome Neuropsychological Profile Cognitive Performance
title_short	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso
title_full	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso
title_fullStr	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso
title_full_unstemmed	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso
title_sort	Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso
dc.creator.fl_str_mv	Asprilla Barrios, Stephanía del Carmen
dc.contributor.advisor.none.fl_str_mv	Galvis Restrepo, Astrid Yulet Vanegas Agudelo, Juan Felipe
dc.contributor.author.none.fl_str_mv	Asprilla Barrios, Stephanía del Carmen
dc.subject.ddc.none.fl_str_mv	150 - Psicología::155 - Psicología diferencial y del desarrollo
topic	150 - Psicología::155 - Psicología diferencial y del desarrollo Mecanismo genético Sistémica crónica Sistema nervioso Estudio de caso Síndromes Periódicos Asociados a la Criopirina Criopirinopatía Síndrome de Muckle Wells Perfil neuropsicológico Desempeño Cognitivo Case Study Cryopyrin-Associated Periodic Syndromes Cryopyrinopathy Muckle Wells Syndrome Neuropsychological Profile Cognitive Performance
dc.subject.other.none.fl_str_mv	Mecanismo genético Sistémica crónica Sistema nervioso
dc.subject.proposal.spa.fl_str_mv	Estudio de caso Síndromes Periódicos Asociados a la Criopirina Criopirinopatía Síndrome de Muckle Wells Perfil neuropsicológico Desempeño Cognitivo
dc.subject.proposal.eng.fl_str_mv	Case Study Cryopyrin-Associated Periodic Syndromes Cryopyrinopathy Muckle Wells Syndrome Neuropsychological Profile Cognitive Performance
description	Los Síndromes Periódicos Asociados a la Criopirina (CAPS) son un espectro de síndromes autoinflamatorios tratables considerados enfermedades huérfanas y raras, que suponen un enorme costo para el sistema de salud, producen inflamación sistémica y meningitis aséptica crónica, independientemente de su fenotipo. El Síndrome de Muckle Wells (MWS) es el fenotipo moderado de la enfermedad, se caracteriza por pérdida auditiva neurosensorial progresiva. Se han identificado algunos compromisos a nivel cognitivo, especialmente trastornos de neurodesarrollo. Objetivo: describir el desempeño neuropsicológico de un adolescente diagnosticado con Criopirinopatía tipo Muckle Wells. Método: se realizó un estudio observacional de caso único retrospectivo con alcance descriptivo y exploratorio, el cual permitió fortalecer el razonamiento clínico. Resultados y conclusiones: entre las alteraciones cognitivas del paciente se caracterizan una velocidad de procesamiento disminuida, dificultades en atención visual alternante, alteraciones a nivel de funciones ejecutivas y procesos de metacognición. A nivel conductual se encontraron fallas en la memoria de trabajo y en la supervisión de sí mismo. Así mismo, trastornos del neurodesarrollo como TDAH Inatento Leve, Trastorno específico del aprendizaje en lectura, escritura y matemáticas, trastorno de la comunicación social y trastorno fonológico.
publishDate	2025
dc.date.accessioned.none.fl_str_mv	2025-03-14T17:35:06Z
dc.date.available.none.fl_str_mv	2025-03-14T17:35:06Z
dc.date.issued.none.fl_str_mv	2025
dc.type.none.fl_str_mv	Trabajo de grado - Maestría
dc.type.content.none.fl_str_mv	Text
dc.type.driver.none.fl_str_mv	info:eu-repo/semantics/masterThesis
dc.type.redcol.none.fl_str_mv	http://purl.org/redcol/resource_type/TM
dc.type.version.none.fl_str_mv	info:eu-repo/semantics/acceptedVersion
status_str	acceptedVersion
dc.identifier.uri.none.fl_str_mv	https://hdl.handle.net/10819/23941
url	https://hdl.handle.net/10819/23941
dc.language.iso.none.fl_str_mv	spa
language	spa
dc.rights.accessrights.none.fl_str_mv	info:eu-repo/semantics/closedAccess
dc.rights.coar.none.fl_str_mv	http://purl.org/coar/access_right/c_14cb
dc.rights.license.*.fl_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 International
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rights_invalid_str_mv	http://purl.org/coar/access_right/c_14cb Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.format.extent.none.fl_str_mv	24 páginas
dc.format.mimetype.none.fl_str_mv	application/pdf
dc.publisher.branch.none.fl_str_mv	Medellín
dc.publisher.faculty.none.fl_str_mv	Facultad de Psicología
dc.publisher.place.none.fl_str_mv	Medellín
dc.publisher.program.none.fl_str_mv	Maestría en Neuropsicología
institution	Universidad de San Buenaventura
dc.source.bibliographicCitation.spa.fl_str_mv	Al-Mayouf, S. M., Almutairi, A., Albrawi, S., Fathalla, B. M., Alzyoud, R., AlEnazi, A., Abushukair, M., Alwahadneh, A., Alsonbul, A., Zlenti, M., Khawaja, E., Abushhaiwia, A., Khawaja, K., AlMosawi, Z., Madan, W., Almuatiri, M., & Almuatiri, N.; for Pediatric Arab Rheumatology Group (PRAG). (2020). Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: A multicenter study from the Pediatric Rheumatology Arab Group (PRAG). Rheumatology International, 40(1), 49–56. https://doi.org/10.1007/s00296-019-04478-3 Compeyrot-Lacassagne, S., Tran, T. A., Guillaume-Czitrom, S., Marie, I., & KonéPaut, I. (2009). Brain multiple sclerosis-like lesions in a patient with MuckleWells syndrome. Rheumatology (Oxford, England), 48(12), 1618–1619. https://doi.org/10.1093/rheumatology/kep321 Cuisset, L., Jeru, I., Dumont, B., Fabre, A., Cochet, E., Le Bozec, J., Delpech, M., Amselem, S., Touitou, I., & French CAPS study group (2011). Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Annals of the rheumatic diseases, 70(3), 495–499. https://doi.org/10.1136/ard.2010.138420 Dunn, G. A., Nigg, J. T., & Sullivan, E. L. (2019). Neuroinflammation as a risk factor for attention deficit hyperactivity disorder. Pharmacology, biochemistry, and behavior, 182, 22–34. https://doi.org/10.1016/j.pbb.2019.05.005 Eisenhardt, K. M. (1989). Building Theories from Case Study Research, Academy of Management Review, 14 (4): 532-550. Ellul, P., Acquaviva, E., Peyre, H., Rosenzwajg, M., Gressens, P., Klatzmann, D., & Delorme, R. (2022). Parental autoimmune and autoinflammatory disorders as multiple risk factors for common neurodevelopmental disorders in offspring: a systematic review and metaanalysis. Translational psychiatry, 12(1), 112. https://doi.org/10.1038/s41398-022-01843-y Elmi, A. A., Wynne, K., Cheng, I. L., Eleftheriou, D., Lachmann, H. J., Hawkins, P. N., & Brogan, P. (2019). Retrospective case series describing the efficacy, safety and costeffectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrinassociated periodic syndrome. Pediatric Rheumatology, 17(1), 36. https://doi.org/10.1186/s12969-019-0335-4 Fan, K., Huang, T., Yu, J., Li, Y., & Jin, J. (2022). The clinical features and potential mechanisms of cognitive disorders in peripheral autoimmune and inflammatory diseases. Fundamental Research, 4(2), 226–236. https://doi.org/10.1016/j.fmre Flores Lázaro, J. C., Castillo Preciado, R. E., & Jiménez Miramonte, N. A. (2014). Desarrollo de funciones ejecutivas, de la niñez a la juventud. Anales de Psicología, 30(2), 463-473. Frangou, S., Chitins, X., & Williams, S. (2004). Mapping IQ and gray matter density in healthy young people. NeuroImage, 23, 800-805. https://doi.org/10.1016/j.neuroimage.2004.05.027. Gezer, H. H., Uslu, O. D., Erdem, D., Kasman, S. A., & Duruöz, M. T. (2019). Thu0574 does the use of cholchicine effect cognitive functions in familial mediterranean fever? Preliminary study. Poster Presentations, 578, 1-578. https://doi.org/10.1136/annrheumdis2019-eular.6994 Hegvik, T., Chen, Q., Kuja-Halkola, R., Klungsøyr, K., Butwicka, A., Lichtenstein, P., Almqvist, C., Faraone, S. V., Haavik, J., & Larsson, H. (2021). Familial coaggregation of attentiondeficit/hyperactivity disorder and autoimmune diseases: a cohort study based on Swedish population-wide registers. International Journal Of Epidemiology, 51(3), 898-909. https://doi.org/10.1093/ije/dyab151 Heneka, M. T., Kummer, M. P., Stutz, A., Delekate, A., Schwartz, S., Vieira-Saecker, A., Griep, A., Axt, D., Remus, A., Tzeng, T. C., Gelpi, E., Halle, A., Korte, M., Latz, E., & Golenbock, D. T. (2013). NLRP3 is activated in Alzheimer's disease and contributes to pathology in APP/PS1 mice. Nature, 493(7434), 674–678. https://doi.org/10.1038/nature11729 Hilger, K., Winter, N. R., Leenings, R., Sassenhagen, J., Hahn, T., Basten, U., & Fiebach, C. J. (2020). Predicting intelligence from brain gray matter volume. Brain Structure and Function, 225(7), 2111–2129. https://doi.org/10.1007/s00429-020-02113-7 Instituto Nacional de Salud [INS]. (2019). Enfermedades Huérfanas - Raras, Colombia, 2019 (FOR-R02.4000-001). https://tinyurl.com/3cctjjv2 Jiang, N. M., Cowan, M., Moonah, S. N., & Petri, W. A., Jr (2018). The Impact of Systemic Inflammation on Neurodevelopment. Trends in molecular medicine, 24(9), 794–804. https://doi.org/10.1016/j.molmed.2018.06.008 Keskindemirci, G., Eskikurt, G., Ayaz, N. A., Çakan, M., Ermutlu, N., & İşoğlu Alkaç, Ü. (2018). Does familial Mediterranean fever affect cognitive function in children? Electrophysiological preliminary study. The International journal of neuroscience, 128(1), 10–14. https://doi.org/10.1080/00207454.2017.1338697 Kümmerle-Deschner, J. B., & Lohse, P. (2017). Zur Genetik der Cryopyrin-assoziierten periodischen Syndrome. Zeitschrift Für Rheumatologie, 76(4), 313–321. https://doi.org/10.1007/s00393-017-0271-y Lainka, E., Neudorf, U., Lohse, P., Timmann, C., Bielak, M., Stojanov, S., Huss, K., von Kries, R., & Niehues, T. (2010). Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics. Klinische Padiatrie, 222(6), 356–361. https://doi.org/10.1055/s-0030-1265181 Lavi, E., Maree, A., Eisenstein, E. M., Wexler, I., Berger, I., & Berkun, Y. (2021). Increased prevalence of attention-deficit hyperactivity disorder symptomatology in patients with familial Mediterranean fever. Modern Rheumatology, 32(2), 422-426. https://doi.org/10.1093/mr/roab009 Levy, R., Gérard, L., Kuemmerle-Deschner, J., Lachmann, H. J., Koné-Paut, I., Cantarini, L., Woo, P., Naselli, A., Bader-Meunier, B., Insalaco, A., Al-Mayouf, S. M., Ozen, S., Hofer, M., Frenkel, J., Modesto, C., Nikishina, I., Schwarz, T., Martino, S., Meini, A., Quartier, P., for PRINTO and Eurofever (2015). Phenotypic and genotypic characteristics of cryopyrinassociated periodic syndrome: a series of 136 patients from the Eurofever Registry. Annals of rheumatic diseases, 74(11), 2043–2049. https://doi.org/10.1136/annrheumdis-2013- 204991 Ley 1392 de 2010 (2010, 2 de julio) Congreso de la República. Diario Oficial No. 47.758. https://tinyurl.com/4r8fjus7 Lieu, J. E. C., Kenna, M., Anne, S., & Davidson, L. (2020). Hearing Loss in Children: A Review. JAMA, 324(21), 2195–2205. https://doi.org/10.1001/jama.2020.17647 Lim, L., Lippe, S., & Silverman, E. (2013). Effect of autoimmune diseases on cognitive function. Handbook of clinical neurology, 112, 1275–1283. https://doi.org/10.1016/B978-0-444- 52910-7.00050-7 Mamoudjy, N., Maurey, H., Marie, I., Koné-Paut, I., & Deiva, K. (2017). Neurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS). Orphanet journal of rare diseases, 12(1), 33. https://doi.org/10.1186/s13023-017-0589-1 Mena-Vázquez, N., Ortiz-Márquez, F., Ramírez-García, T., Cabezudo-García, P., GarcíaStuder, A., Mucientes-Ruiz, A., Lisbona-Montañez, J. M., Borregón-Garrido, P., Ruiz-Limón, P., Redondo-Rodríguez, R., Manrique-Arija, S., Cano-García, L., Serrano-Castro, P. J., & Fernández-Nebro, A. (2024). Impact of inflammation on cognitive function in patients with highly inflammatory rheumatoid arthritis. RMD Open, 10(2), e004422. https://doi.org/10.1136/rmdopen-2024-004422 Ministerio de Salud de Colombia [MinSalud] (s.f.). Enfermedades huérfanas. https://tinyurl.com/573m985k Panel, N. G. D., Brown, J., Kaelin, D., Mattingly, E., Mello, C., Miller, E. S., Mitchell, G., Picon, L. M., Waldron-Perine, B., Wolf, T. J., Frymark, T., & Bowen, R. (2022). American SpeechLanguage-Hearing Association Clinical Practice Guideline: Cognitive Rehabilitation for the Management of Cognitive Dysfunction Associated With Acquired Brain Injury. American Journal Of Speech-Language Pathology, 31(6), 2455-2526. https://doi.org/10.1044/2022_ajslp-21-00361 Pievsky, M. A., & McGrath, R. E. (2018). The Neurocognitive Profile of AttentionDeficit/Hyperactivity Disorder: A Review of Meta-Analyses. Archives of Clinical Neuropsychology, 33(2), 143–157. https://doi.org/10.1093/arclin/acx055 Oláh, C., Schwartz, N., Denton, C., Kardos, Z., Putterman, C., & Szekanecz, Z. (2020). Cognitive dysfunction in autoimmune rheumatic diseases. Arthritis Research & Therapy, 22(1). doi:10.1186/s13075-020-02180-5 Otero T. M. & Barker, L. A. (2014) The Frontal Lobes and Executive Functioning. En Springer eBooks, Handbook of Executive Functioning (pp. 29 – 44) https://doi.org/10.1007/978-1- 4614-8106-5 Rogers, D. L., Akoghlanian, S., Reem, R. E., Rogers, S., & Aylward, S. C. (2020). Secondary Intracranial Hypertension in Pediatric Patients With Cryopyrin-Associated Periodic Syndrome. Pediatric neurology, 111, 70–72. https://doi.org/10.1016/j.pediatrneurol.2020.07.003 Soriano, A., Soriano, M., Espinosa, G., Manna, R., Emmi, G., Cantarini, L., & HernándezRodríguez, J. (2020). Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide. Frontiers In Immunology, 11. https://doi.org/10.3389/fimmu.2020.00865 Taneda, T., Takahashi, M., Umeda, M., Umeda, Y., Oyake, M., Nishikomori, R., & Fujita, N. (2024). Cryopyrin-associated periodic fever syndrome (CAPS) presenting as early-onset dementia, lacking typical recurrent fever or skin rash: a case report. Rinsho shinkeigaku = Clinical neurology, 64(6), 413–416. https://doi.org/10.5692/clinicalneurol.cn-001956 Tran T. A. (2017). Muckle-Wells syndrome: clinical perspectives. Open access rheumatology: research and reviews, 9, 123–129. https://doi.org/10.2147/OARRR.S114447 Tsai, S.-J. (2017). Effects of interleukin-1beta polymorphisms on brain function and behavior in healthy and psychiatric disease conditions. Cytokine & Growth Factor Reviews, 37, 89–97. doi:10.1016/j.cytogfr.2017.06.001 Veleiro Pérez, B., Rico Díaz, M. A., & Vila Sexto, L. (2012) Urticaria de contacto y síndromes urticariformes inducidos por frío y alergia. Galicia Clínica 2012; 73 (4): 151-159 Verbsky, J. W., & Routes, J. R. (2017). Recurrent fever, infections, immune disorders, and autoinflammatory diseases. In Elsevier eBooks (pp. 746-773.e1) https://doi.org/10.1016/b978-0-323-39956-2.00041-8 Voet, S., Srinivasan, S., Lamkanfi, M., & van Loo, G. (2019). Inflammasomes in neuroinflammatory and neurodegenerative diseases. EMBO molecular medicine, 11(6), e10248. https://doi.org/10.15252/emmm.201810248 Welzel, T., & Kuemmerle-Deschner, J. B. (2021). Diagnosis and Management of the CryopyrinAssociated Periodic Syndromes (CAPS): What Do We Know Today?. Journal of clinical medicine, 10(1), 128. https://doi.org/10.3390/jcm10010128 Wong, R.S.Y. (2022). Psychopathology of attention deficit/hyperactivity disorder: from an inflammatory perspective. The Egyptian Journal of Neurology Psychiatry and Neurosurgery, 58, 123 https://doi.org/10.1186/s41983-022-00561
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spelling	Galvis Restrepo, Astrid YuletVanegas Agudelo, Juan FelipeAsprilla Barrios, Stephanía del Carmen2025-03-14T17:35:06Z2025-03-14T17:35:06Z2025Los Síndromes Periódicos Asociados a la Criopirina (CAPS) son un espectro de síndromes autoinflamatorios tratables considerados enfermedades huérfanas y raras, que suponen un enorme costo para el sistema de salud, producen inflamación sistémica y meningitis aséptica crónica, independientemente de su fenotipo. El Síndrome de Muckle Wells (MWS) es el fenotipo moderado de la enfermedad, se caracteriza por pérdida auditiva neurosensorial progresiva. Se han identificado algunos compromisos a nivel cognitivo, especialmente trastornos de neurodesarrollo. Objetivo: describir el desempeño neuropsicológico de un adolescente diagnosticado con Criopirinopatía tipo Muckle Wells. Método: se realizó un estudio observacional de caso único retrospectivo con alcance descriptivo y exploratorio, el cual permitió fortalecer el razonamiento clínico. Resultados y conclusiones: entre las alteraciones cognitivas del paciente se caracterizan una velocidad de procesamiento disminuida, dificultades en atención visual alternante, alteraciones a nivel de funciones ejecutivas y procesos de metacognición. A nivel conductual se encontraron fallas en la memoria de trabajo y en la supervisión de sí mismo. Así mismo, trastornos del neurodesarrollo como TDAH Inatento Leve, Trastorno específico del aprendizaje en lectura, escritura y matemáticas, trastorno de la comunicación social y trastorno fonológico.Cryopyrin Associated Periodic Syndromes (CAPS) are a spectrum of treatable autoinflammatory syndromes considered orphan and rare diseases. They pose a significant burden on the healthcare system, cause systemic inflammation, and lead to chronic aseptic meningitis, regardless of their phenotype. Muckle-Wells Syndrome (MWS) represents the moderate phenotype of the disease and is characterized by progressive sensorineural hearing loss. Some cognitive impairments have been identified, particularly neurodevelopmental disorders. Aim: To describe the neuropsychological performance of an adolescent clinically diagnosed with Muckle-Wells Syndrome. Method: An observational single-case study with a descriptive and exploratory scope was conducted, which contributed to strengthening clinical practice. Results and Conclusions: The patient’s cognitive impairments included reduced processing speed, difficulties with alternating visual attention, and deficits in executive functions and metacognitive processes. Behaviorally, we found deficits in working memory and self-monitoring. Similarly, Neurodevelopmental disorders such as mild inattentive ADHD, specific learning disorder in reading, writing and mathematics, social communication disorder and phonological disorder.MaestríaMagíster en Neuropsicología24 páginasapplication/pdfhttps://hdl.handle.net/10819/23941spaMedellínFacultad de PsicologíaMedellínMaestría en Neuropsicologíainfo:eu-repo/semantics/closedAccesshttp://purl.org/coar/access_right/c_14cbAttribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Al-Mayouf, S. M., Almutairi, A., Albrawi, S., Fathalla, B. M., Alzyoud, R., AlEnazi, A., Abushukair, M., Alwahadneh, A., Alsonbul, A., Zlenti, M., Khawaja, E., Abushhaiwia, A., Khawaja, K., AlMosawi, Z., Madan, W., Almuatiri, M., & Almuatiri, N.; for Pediatric Arab Rheumatology Group (PRAG). (2020). Pattern and diagnostic evaluation of systemic autoinflammatory diseases other than familial Mediterranean fever among Arab children: A multicenter study from the Pediatric Rheumatology Arab Group (PRAG). Rheumatology International, 40(1), 49–56. https://doi.org/10.1007/s00296-019-04478-3Compeyrot-Lacassagne, S., Tran, T. A., Guillaume-Czitrom, S., Marie, I., & KonéPaut, I. (2009). Brain multiple sclerosis-like lesions in a patient with MuckleWells syndrome. Rheumatology (Oxford, England), 48(12), 1618–1619. https://doi.org/10.1093/rheumatology/kep321Cuisset, L., Jeru, I., Dumont, B., Fabre, A., Cochet, E., Le Bozec, J., Delpech, M., Amselem, S., Touitou, I., & French CAPS study group (2011). Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Annals of the rheumatic diseases, 70(3), 495–499. https://doi.org/10.1136/ard.2010.138420Dunn, G. A., Nigg, J. T., & Sullivan, E. L. (2019). Neuroinflammation as a risk factor for attention deficit hyperactivity disorder. Pharmacology, biochemistry, and behavior, 182, 22–34. https://doi.org/10.1016/j.pbb.2019.05.005Eisenhardt, K. M. (1989). Building Theories from Case Study Research, Academy of Management Review, 14 (4): 532-550.Ellul, P., Acquaviva, E., Peyre, H., Rosenzwajg, M., Gressens, P., Klatzmann, D., & Delorme, R. (2022). Parental autoimmune and autoinflammatory disorders as multiple risk factors for common neurodevelopmental disorders in offspring: a systematic review and metaanalysis. Translational psychiatry, 12(1), 112. https://doi.org/10.1038/s41398-022-01843-yElmi, A. A., Wynne, K., Cheng, I. L., Eleftheriou, D., Lachmann, H. J., Hawkins, P. N., & Brogan, P. (2019). Retrospective case series describing the efficacy, safety and costeffectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrinassociated periodic syndrome. 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Desempeño neuropsicológico de un adolescente con Criopirinopatía tipo Muckle Wells: estudio de caso

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