Two cases of generalized seizures and the Velocardiofacial syndrome -- a clinically significant association?
Check for generalized epilepsy in every adult with VCFS—this case series is the first red flag.
01Research in Context
What this study did
Doctors wrote up two adults who had Velocardiofacial syndrome and also had big seizures. They wanted to know if the two problems travel together.
The paper is just a case series. No big numbers, just two stories.
What they found
Both adults had primary generalized epilepsy. The team says this may be the first time anyone noticed the link.
They urge clinicians to screen for seizures when VCFS is on the chart.
How this fits with other research
Busch et al. (2010) looked at adults with ID plus both autism and epilepsy. They found more mood and behavior trouble than in ID alone. O et al. adds VCFS to the list of ID-related conditions that can hide epilepsy.
Carmeli et al. (2009) found high blood markers of inflammation in adults with ID and epilepsy. Their work hints at body chemistry, while O et al. gives the bedside clue: ask about seizures.
Sipes et al. (2011) mapped clusters of anti-seizure drug side effects in people with ID. If you start an AED for a client with VCFS, their data say watch for paired side effects like liver plus skin problems.
Why it matters
VCFS is rare, but you may see it in adult day programs or clinic reviews. Add one quick question to your intake: "Any unexplained staring spells or body jerks?" If the answer is yes, refer for an EEG. Early seizure control can cut injury risk and behavior flare-ups.
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02At a glance
03Original abstract
BACKGROUND: Velocardiofacial syndrome (VCFS) is caused by a micro deletion of chromosome 22q11 and associated with multiple system abnormalities. There is an increasing recognition of associations with psychiatric disorders. Neurological and brain abnormalities have been reported but to date no association with generalized epilepsy has been reported in literature. METHODS: We report two cases of adults with VCFS and primary generalized epilepsy. The details on their background, psychiatric history and history of epilepsy including results of investigations will be discussed. RESULTS: Case 1 is an adult male with mild learning disability (LD), VCFS, paranoid schizophrenia and primary generalized epilepsy. Case 2 is an adult female with mild LD, VCFS, schizoaffective disorder and primary generalized epilepsy. The diagnosis of epilepsy in both cases was based on clinical and EEG findings of primary generalized abnormalities. CONCLUSION: As there is an evidence of association between VCFS and psychiatric disorders, this raises the possibility of an association with generalized epilepsy.
Journal of intellectual disability research : JIDR, 2004 · doi:10.1111/j.1365-2788.2003.00563.x