Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome
IntroductionInfantile Epileptic Spasms Syndrome (IESS) typically has a profound impact on the neurodevelopment of patients. The study on IESS indicates possible geographical variation in etiology and a lack of data from China. Our study intends to summarize the etiology of IESS and analyze its chara...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1522079/full |
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| author | Linghui Zhu Linghui Zhu Yuan Xia Yuan Xia Hao Ding Tong Zhang Jun Li Baomin Li Baomin Li |
| author_facet | Linghui Zhu Linghui Zhu Yuan Xia Yuan Xia Hao Ding Tong Zhang Jun Li Baomin Li Baomin Li |
| author_sort | Linghui Zhu |
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| description | IntroductionInfantile Epileptic Spasms Syndrome (IESS) typically has a profound impact on the neurodevelopment of patients. The study on IESS indicates possible geographical variation in etiology and a lack of data from China. Our study intends to summarize the etiology of IESS and analyze its characteristics.MethodsA retrospective analysis was performed to gather clinical data from patients diagnosed with IESS at the Department of Neurology of Qilu Hospital of Shandong University and the Children's Hospital Affiliated to Shandong University between June 2017 to May 2024.ResultsA total of 361 patients with IESS were included, comprising 115 structural cases (31.9%), 37 genetic cases (10.2%), 32 genetic-structural cases (8.9%), 9 metabolic cases (2.5%), 3 infectious cases (0.8%), and 165 cases with unknown etiology (45.7%). No immunological cause was determined. The primary cause of the condition was linked to hypoxic-ischemic encephalopathy (HIE), with structural brain abnormalities following closely. The predominant pathogenic genes identified were TSC2, NF1, SCN8A, and KCNQ2. Male gender, preterm infants, low birth weight infants, and developmental regression in patients were associated with a higher likelihood of structural etiology. Patients exhibiting developmental regression before the commencement demonstrated inferior outcomes. Patients administered adrenocorticotropic hormone (ACTH) exhibited a higher likelihood of attaining seizure control, and those who responded favorably to the medication saw improved results.ConclusionThe predominant etiology of IESS is structural, succeeded by genetic factors, with significant pathogenic genes comprising TSC2, NF1, SCN8A, and KCNQ2. The genetic classifications exhibit geographic variability. Genetic and structural etiologies are frequently linked to an unfavorable prognosis. Genetic testing can help clarify the etiology of IESS when metabolic screening and brain MRI results are negative. The advancement of genetic testing is crucial for future targeted and individualized diagnosis and therapy. |
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| institution | Kabale University |
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| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj-art-cb7f02b9b5b94945a94c3043d6452a062025-01-09T06:10:17ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011210.3389/fped.2024.15220791522079Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndromeLinghui Zhu0Linghui Zhu1Yuan Xia2Yuan Xia3Hao Ding4Tong Zhang5Jun Li6Baomin Li7Baomin Li8Cheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaDepartment of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaCheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaDepartment of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaChildren's Hospital Affiliated to Shandong University, Jinan Children's Hospital, Jinan, Shandong, ChinaChildren's Hospital Affiliated to Shandong University, Jinan Children's Hospital, Jinan, Shandong, ChinaDepartment of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaCheeloo College of Medicine, Shandong University, Jinan, Shandong, ChinaDepartment of Pediatrics, Qilu Hospital of Shandong University, Jinan, Shandong, ChinaIntroductionInfantile Epileptic Spasms Syndrome (IESS) typically has a profound impact on the neurodevelopment of patients. The study on IESS indicates possible geographical variation in etiology and a lack of data from China. Our study intends to summarize the etiology of IESS and analyze its characteristics.MethodsA retrospective analysis was performed to gather clinical data from patients diagnosed with IESS at the Department of Neurology of Qilu Hospital of Shandong University and the Children's Hospital Affiliated to Shandong University between June 2017 to May 2024.ResultsA total of 361 patients with IESS were included, comprising 115 structural cases (31.9%), 37 genetic cases (10.2%), 32 genetic-structural cases (8.9%), 9 metabolic cases (2.5%), 3 infectious cases (0.8%), and 165 cases with unknown etiology (45.7%). No immunological cause was determined. The primary cause of the condition was linked to hypoxic-ischemic encephalopathy (HIE), with structural brain abnormalities following closely. The predominant pathogenic genes identified were TSC2, NF1, SCN8A, and KCNQ2. Male gender, preterm infants, low birth weight infants, and developmental regression in patients were associated with a higher likelihood of structural etiology. Patients exhibiting developmental regression before the commencement demonstrated inferior outcomes. Patients administered adrenocorticotropic hormone (ACTH) exhibited a higher likelihood of attaining seizure control, and those who responded favorably to the medication saw improved results.ConclusionThe predominant etiology of IESS is structural, succeeded by genetic factors, with significant pathogenic genes comprising TSC2, NF1, SCN8A, and KCNQ2. The genetic classifications exhibit geographic variability. Genetic and structural etiologies are frequently linked to an unfavorable prognosis. Genetic testing can help clarify the etiology of IESS when metabolic screening and brain MRI results are negative. The advancement of genetic testing is crucial for future targeted and individualized diagnosis and therapy.https://www.frontiersin.org/articles/10.3389/fped.2024.1522079/fulletiologypathogenic geneshypsarrhythmiainfantile epileptic spasms syndrome (IESS)prognosis |
| spellingShingle | Linghui Zhu Linghui Zhu Yuan Xia Yuan Xia Hao Ding Tong Zhang Jun Li Baomin Li Baomin Li Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome Frontiers in Pediatrics etiology pathogenic genes hypsarrhythmia infantile epileptic spasms syndrome (IESS) prognosis |
| title | Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome |
| title_full | Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome |
| title_fullStr | Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome |
| title_full_unstemmed | Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome |
| title_short | Infantile epileptic spasms syndrome: an etiologic study of 361 patients with infantile epileptic spasms syndrome |
| title_sort | infantile epileptic spasms syndrome an etiologic study of 361 patients with infantile epileptic spasms syndrome |
| topic | etiology pathogenic genes hypsarrhythmia infantile epileptic spasms syndrome (IESS) prognosis |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1522079/full |
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