Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series
ObjectiveEpilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to...
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| Veröffentlicht in: | Epileptic disorders 2023-10, Vol.25 (5), p.758-768 |
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| creator | Ballarà Petitbò, Maria González Alguacil, Elena Gutiérrez Delicado, Eva Ortiz Cabrera, Nelmar Valentina Duat Rodríguez, Anna García Peñas, Juan José Soto Insuga, Victor |
| description | ObjectiveEpilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM.MethodsThis is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital.ResultsSeventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8%, and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with ‐IQ |
| doi_str_mv | 10.1002/epd2.20148 |
| format | Article |
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It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM.MethodsThis is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital.ResultsSeventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8%, and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with ‐IQ <70‐), with predominant difficulties in executive functions, comprehensive language, and motor skills. Cognitive deterioration was observed in one patient in parallel onset with psychotic symptoms. High refractoriness to antiseizure medication (ASM) was observed, with only 23.5% of the patients being seizure‐free after a mean follow‐up of 7 years. The most effective ASM was valproic acid, and two of them received ketogenic diet with good response. Regarding prognostic factors, psychotic symptoms were associated with a greater number of antiseizure medication (p < .05) implying a more drug‐resistant epilepsy.SignificanceIn our study, we found a high rate of cognitive and psychiatric comorbidities and high refractoriness. These data support the concept of EEM as an intermediate entity between idiopathic generalized epilepsy and epileptic and/or neurodevelopmental encephalopathy. Making a proper diagnosis and management of these comorbidities is necessary to improve prognosis and quality of life in EEM.</description><identifier>ISSN: 1294-9361</identifier><identifier>EISSN: 1950-6945</identifier><identifier>DOI: 10.1002/epd2.20148</identifier><language>eng</language><publisher>Montrouge: Wiley Subscription Services, Inc</publisher><subject>Attention deficit hyperactivity disorder ; Autism ; Children ; Cognition ; Cognitive ability ; Comorbidity ; Drug resistance ; Encephalopathy ; Epilepsy ; Eyelid ; High fat diet ; Ketogenesis ; Low carbohydrate diet ; Medical prognosis ; Mental disorders ; Motor skill ; Patients ; Pediatrics ; Psychosis ; Quality of life ; Seizures ; Valproic acid</subject><ispartof>Epileptic disorders, 2023-10, Vol.25 (5), p.758-768</ispartof><rights>2023 International League Against Epilepsy.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c251t-83dfdae9b84d6685098b90593bd6a11f0db7fb0afbb0091a17547c7fe864de493</cites><orcidid>0000-0002-3835-7203 ; 0000-0002-2483-9930 ; 0000-0002-8358-2901 ; 0000-0003-1532-4123 ; 0000-0002-2507-3252</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids></links><search><creatorcontrib>Ballarà Petitbò, Maria</creatorcontrib><creatorcontrib>González Alguacil, Elena</creatorcontrib><creatorcontrib>Gutiérrez Delicado, Eva</creatorcontrib><creatorcontrib>Ortiz Cabrera, Nelmar Valentina</creatorcontrib><creatorcontrib>Duat Rodríguez, Anna</creatorcontrib><creatorcontrib>García Peñas, Juan José</creatorcontrib><creatorcontrib>Soto Insuga, Victor</creatorcontrib><title>Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series</title><title>Epileptic disorders</title><description>ObjectiveEpilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM.MethodsThis is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital.ResultsSeventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8%, and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with ‐IQ <70‐), with predominant difficulties in executive functions, comprehensive language, and motor skills. Cognitive deterioration was observed in one patient in parallel onset with psychotic symptoms. High refractoriness to antiseizure medication (ASM) was observed, with only 23.5% of the patients being seizure‐free after a mean follow‐up of 7 years. The most effective ASM was valproic acid, and two of them received ketogenic diet with good response. Regarding prognostic factors, psychotic symptoms were associated with a greater number of antiseizure medication (p < .05) implying a more drug‐resistant epilepsy.SignificanceIn our study, we found a high rate of cognitive and psychiatric comorbidities and high refractoriness. These data support the concept of EEM as an intermediate entity between idiopathic generalized epilepsy and epileptic and/or neurodevelopmental encephalopathy. Making a proper diagnosis and management of these comorbidities is necessary to improve prognosis and quality of life in EEM.</description><subject>Attention deficit hyperactivity disorder</subject><subject>Autism</subject><subject>Children</subject><subject>Cognition</subject><subject>Cognitive ability</subject><subject>Comorbidity</subject><subject>Drug resistance</subject><subject>Encephalopathy</subject><subject>Epilepsy</subject><subject>Eyelid</subject><subject>High fat diet</subject><subject>Ketogenesis</subject><subject>Low carbohydrate diet</subject><subject>Medical prognosis</subject><subject>Mental disorders</subject><subject>Motor skill</subject><subject>Patients</subject><subject>Pediatrics</subject><subject>Psychosis</subject><subject>Quality of life</subject><subject>Seizures</subject><subject>Valproic acid</subject><issn>1294-9361</issn><issn>1950-6945</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNpdkUtLxDAUhYMoOI5u_AUBNyJ0TNqkTdwNgy8YdKPrksetk6HT1KRV-u-Njm5c3dfH4VwOQueULCgh-TX0Nl_khDJxgGZUcpKVkvHD1OeSZbIo6TE6iXGb2HSkMzQ-wRh8HyezcWoIzmDjdz5oZ93gIGLV2bR569LkO-w6DL1rIfH40w0bDBO0zuLd5E3rO6du8BIHGIKPPZjBfQDuwf4Jqwg4Qkiyp-ioUW2Es986R693ty-rh2z9fP-4Wq4zk3M6ZKKwjVUgtWC2LAUnUmhJuCy0LRWlDbG6ajRRjdaESKpoxVllqgZEySwwWczR5V63D_59hDjUOxcNtK3qwI-xzgWnopRcsoRe_EO3fgxdcpeoqmSiKHKeqKs9ZdKLMUBT98HtVJhqSurvBOrvBOqfBIovlo97ew</recordid><startdate>20231001</startdate><enddate>20231001</enddate><creator>Ballarà Petitbò, Maria</creator><creator>González Alguacil, Elena</creator><creator>Gutiérrez Delicado, Eva</creator><creator>Ortiz Cabrera, Nelmar Valentina</creator><creator>Duat Rodríguez, Anna</creator><creator>García Peñas, Juan José</creator><creator>Soto Insuga, Victor</creator><general>Wiley Subscription Services, Inc</general><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0002-3835-7203</orcidid><orcidid>https://orcid.org/0000-0002-2483-9930</orcidid><orcidid>https://orcid.org/0000-0002-8358-2901</orcidid><orcidid>https://orcid.org/0000-0003-1532-4123</orcidid><orcidid>https://orcid.org/0000-0002-2507-3252</orcidid></search><sort><creationdate>20231001</creationdate><title>Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series</title><author>Ballarà Petitbò, Maria ; González Alguacil, Elena ; Gutiérrez Delicado, Eva ; Ortiz Cabrera, Nelmar Valentina ; Duat Rodríguez, Anna ; García Peñas, Juan José ; Soto Insuga, Victor</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c251t-83dfdae9b84d6685098b90593bd6a11f0db7fb0afbb0091a17547c7fe864de493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Attention deficit hyperactivity disorder</topic><topic>Autism</topic><topic>Children</topic><topic>Cognition</topic><topic>Cognitive ability</topic><topic>Comorbidity</topic><topic>Drug resistance</topic><topic>Encephalopathy</topic><topic>Epilepsy</topic><topic>Eyelid</topic><topic>High fat diet</topic><topic>Ketogenesis</topic><topic>Low carbohydrate diet</topic><topic>Medical prognosis</topic><topic>Mental disorders</topic><topic>Motor skill</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Psychosis</topic><topic>Quality of life</topic><topic>Seizures</topic><topic>Valproic acid</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ballarà Petitbò, Maria</creatorcontrib><creatorcontrib>González Alguacil, Elena</creatorcontrib><creatorcontrib>Gutiérrez Delicado, Eva</creatorcontrib><creatorcontrib>Ortiz Cabrera, Nelmar Valentina</creatorcontrib><creatorcontrib>Duat Rodríguez, Anna</creatorcontrib><creatorcontrib>García Peñas, Juan José</creatorcontrib><creatorcontrib>Soto Insuga, Victor</creatorcontrib><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Epileptic disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ballarà Petitbò, Maria</au><au>González Alguacil, Elena</au><au>Gutiérrez Delicado, Eva</au><au>Ortiz Cabrera, Nelmar Valentina</au><au>Duat Rodríguez, Anna</au><au>García Peñas, Juan José</au><au>Soto Insuga, Victor</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series</atitle><jtitle>Epileptic disorders</jtitle><date>2023-10-01</date><risdate>2023</risdate><volume>25</volume><issue>5</issue><spage>758</spage><epage>768</epage><pages>758-768</pages><issn>1294-9361</issn><eissn>1950-6945</eissn><abstract>ObjectiveEpilepsy with eyelid myoclonia (EEM) is a rare epileptic syndrome classified within the Genetic Generalized Epilepsies of childhood. It is characterized by a high drug resistance, and little is known about prognostic factors and neurodevelopmental comorbidities. The aim of this study was to describe the clinical features, cognitive profile, and prognostic factors in a series of children with EEM.MethodsThis is a retrospective observational study of patients diagnosed with EEM from 2012 to 2022 in a tertiary pediatric hospital.ResultsSeventeen patients were analyzed (mean age at symptom onset 5.8 years). Neuropsychiatric comorbidities were present in 76.4% (attention deficit hyperactivity disorder 58.8%, behavioral disorder 11.8%, autism spectrum disorder 11.8%, and psychotic outbreaks 11.8%). Neurocognitive assessment was performed in 75%, revealing cognitive impairment in 66.6% (62.5% with borderline intellectual function and 37.5% with ‐IQ <70‐), with predominant difficulties in executive functions, comprehensive language, and motor skills. Cognitive deterioration was observed in one patient in parallel onset with psychotic symptoms. High refractoriness to antiseizure medication (ASM) was observed, with only 23.5% of the patients being seizure‐free after a mean follow‐up of 7 years. The most effective ASM was valproic acid, and two of them received ketogenic diet with good response. Regarding prognostic factors, psychotic symptoms were associated with a greater number of antiseizure medication (p < .05) implying a more drug‐resistant epilepsy.SignificanceIn our study, we found a high rate of cognitive and psychiatric comorbidities and high refractoriness. These data support the concept of EEM as an intermediate entity between idiopathic generalized epilepsy and epileptic and/or neurodevelopmental encephalopathy. Making a proper diagnosis and management of these comorbidities is necessary to improve prognosis and quality of life in EEM.</abstract><cop>Montrouge</cop><pub>Wiley Subscription Services, Inc</pub><doi>10.1002/epd2.20148</doi><tpages>11</tpages><orcidid>https://orcid.org/0000-0002-3835-7203</orcidid><orcidid>https://orcid.org/0000-0002-2483-9930</orcidid><orcidid>https://orcid.org/0000-0002-8358-2901</orcidid><orcidid>https://orcid.org/0000-0003-1532-4123</orcidid><orcidid>https://orcid.org/0000-0002-2507-3252</orcidid></addata></record> |
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| subjects | Attention deficit hyperactivity disorder Autism Children Cognition Cognitive ability Comorbidity Drug resistance Encephalopathy Epilepsy Eyelid High fat diet Ketogenesis Low carbohydrate diet Medical prognosis Mental disorders Motor skill Patients Pediatrics Psychosis Quality of life Seizures Valproic acid |
| title | Neuropsychiatric comorbidities and cognition in epilepsy with eyelid myoclonia: A retrospective pediatric case series |
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