Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review
Seizure: European Journal of Epilepsy, ISSN: 1059-1311, Vol: 116, Page: 14-23
2024
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Most Recent News
New Data from Medical University of Silesia Illuminate Findings in Wolf-Hirschhorn Syndrome [Clinical and Epilepsy Characteristics In Wolf-hirschhorn Syndrome (4p-): a Review]
2024 NOV 07 (NewsRx) -- By a News Reporter-Staff News Editor at Pain & Central Nervous System Daily News -- Current study results on Genetic
Review Description
Wolf–Hirschhorn syndrome (WHS) is araredisorderwithan estimated prevalence being around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf–Hirschhorn Syndrome Critical region- WHSCR) on chromosome 4p16.3. WHS is clinically characterized by pre-and postnatal growth restriction, hypotonia, intellectual disability, craniofacial dysmorphismand congenital fusion anomalies. The clinical aspects are variable due to the deletion size.Consistently, epilepsy is one of the major concerns for parents and professionals caring for children with WHS. Seizures tend to occur in over 90% of patients, with onset within the first 3 years of life, and a peak incidence at around 6–12 months of age. Approximately 20% of patients had the first seizure onset within the first 6 months of age, almost 50% at 6 to 12 months of age and about 25% later than 12 months of age. The main types of epileptic seizures occurring in patients with WHS were generalized tonic–clonic seizures (around 70%). These were followed by tonic spasms (20%); focal seizures with impaired awareness (12%) and clonicseizures in 7% of patients.Seizures are often triggered by fever, followed by infections of various systems. Particularly, half of WHS patients experience status epilepticus in the first years of life, which can be fatal. Due to limited number of reports on the topic of EEG abnormalities in epilepsy among WHS patients, it is difficult to determine whether there are any characteristic deviations for WHS. Although more than 300 persons with WHS have been reported in the literature, there is sparse knowledge about epilepsy and methods of its anti-seizure medication (ASM) management with an assessment of their effectiveness. The purpose of this systematic review is to briefly summarize achievements and advances in the field of epilepsy in Wolf-Hirschhorn syndrome.
Bibliographic Details
http://www.sciencedirect.com/science/article/pii/S1059131122002771; http://dx.doi.org/10.1016/j.seizure.2022.12.001; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85144852026&origin=inward; http://www.ncbi.nlm.nih.gov/pubmed/36526544; https://linkinghub.elsevier.com/retrieve/pii/S1059131122002771; https://dx.doi.org/10.1016/j.seizure.2022.12.001
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