Epilepsy and Developmental Delay in Pediatric Patients With PTEN Variants and a Literature Review.

IF 3.2 3区医学 Q2 CLINICAL NEUROLOGY

Pediatric neurology Pub Date : 2024-11-15 DOI:10.1016/j.pediatrneurol.2024.10.018

Qinrui Li, Zhao Xu, Jiong Qin, Zhixian Yang

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引用次数: 0

Abstract

Background: Epilepsy is not common in pediatric patients with phosphatase and tensin homolog (PTEN) variants. The characteristics of epilepsy, reactions to antiseizure medications, and prognosis in these patients are not fully understood. The aim of this study was to elucidate the characteristics of epilepsy and developmental outcomes in pediatric patients with PTEN variants.

Methods: We collected data from pediatric patients followed in Peking University People's Hospital from July 2018 to April 2024.

Results: Thirteen children harboring PTEN variants were identified (mean age, 4.1 years). All the children (100%) with PTEN variants exhibited macrocephaly, 92.3% (12 of 13) had developmental delays, and 38.5% (five of 13) were diagnosed with autism spectrum disorder. Among the 13 children, 15.4% (two of 13) had epilepsy, and both responded well to antiseizure medications. Furthermore, we reviewed published articles on PTEN variants and epilepsy. We found seven studies of 665 pediatric patients with PTEN variants, including 26 patients with epilepsy. Among the 26 epileptic patients, information about the number and response to antiseizure medications was available for only 14 patients, and 15 patients had information about seizure types. Focal seizures were the most common seizure type (10 of 15, 66.7%). Only 28.6% (four of 14) of patients were diagnosed with drug-resistant epilepsy, and all patients (four of four) had abnormal brain magnetic resonance imaging findings.

Conclusions: In summary, a high proportion of pediatric patients with PTEN variants have developmental delay. Among epileptic patients, the most common seizure type is focal seizures, and these patients are more likely to respond to antiseizure medications if their brain imaging results are normal. Further large-scale studies are necessary to characterize the clinical characteristics of pediatric patients with epilepsy harboring PTEN variants and establish standard treatments.

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来源期刊

Pediatric neurology 医学-临床神经学

CiteScore

4.80

自引率

2.60%

发文量

176

审稿时长

78 days

期刊介绍： Pediatric Neurology publishes timely peer-reviewed clinical and research articles covering all aspects of the developing nervous system. Pediatric Neurology features up-to-the-minute publication of the latest advances in the diagnosis, management, and treatment of pediatric neurologic disorders. The journal''s editor, E. Steve Roach, in conjunction with the team of Associate Editors, heads an internationally recognized editorial board, ensuring the most authoritative and extensive coverage of the field. Among the topics covered are: epilepsy, mitochondrial diseases, congenital malformations, chromosomopathies, peripheral neuropathies, perinatal and childhood stroke, cerebral palsy, as well as other diseases affecting the developing nervous system.