Molecular diagnosis
Confirmation of the diagnosis is established by identification of an Xp22.12 deletion on microarray analysis, by targeted sequencing of the CNKSR2 gene or by sequencing of a gene panel, exome or genome using Next Generation Sequencing.
Management
The main clinical management issue in this condition is the epilepsy disorder which can sometimes be refractory to treatment. Affected individuals should be under the care of a paediatric/adult neurologist. Very few patients have been reported with the disorder so far and so it has been impossible to establish which antiepileptic drugs (AEDs) are most effective. Seizure control appears to be variable with some experiencing more problems than others. The seizures responded to a ketogenic diet in one patient and appear to improve with age.
Developmental delay and intellectual disability have been present in all affected males. This appears to vary in severity, though in most IQ has been less than 70. All affected individuals have needed extra help with their education and developmental surveillance is required. One patient was able to attend a mainstream school with additional input whereas others have attended schools for children with intellectual disability.
Speech and language therapy input are needed, with emphasis on using other types of communication is speech is impaired.
There is no information as yet about specific management of the hyperactivity and attention deficit in this condition.
Individuals with CNKSR2 syndrome are usually normally grown and are non-dysmorphic.
There appear to be no associated structural malformations or specific MRI findings.