Highlights
- •Epilepsy is one of the main neurological conditions among children with Wolf-Hirschhorn syndrome. It is mostly associated with frequent and difficult-to-control seizures, due to which long-term developmental outcomes may be impaired. In contrast, the course of epilepsy, when diagnosed efficiently by physicians and appropriate treatment is initiated, can have a good prognosis, with no cognitive deterioration. Therefore, we believe that our systematic review, in which we provide a summary of knowledge about epilepsy in WHS, its characteristics and treatment efficacy, can be a comprehensive source of information for all health care professionals who care for patients with Wolf-Hirschhorn syndrome.
Abstract
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.
Keywords
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Article info
Publication history
Published online: December 08, 2022
Accepted:
December 7,
2022
Received in revised form:
November 23,
2022
Received:
November 6,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2022 Published by Elsevier Ltd on behalf of British Epilepsy Association.
