Table 4.

Treatment of Manifestations in Individuals with Kleefstra Syndrome

Manifestation/ConcernTreatmentConsiderations/Other
Refractive error Standard treatment
Hearing loss Auditory amplification as appropriateSee Hereditary Hearing Loss and Deafness Overview.
Congenital heart defects
& rhythm disturbance 		Standard treatment per cardiologist
Sleep disturbance Standard treatmentNo well-controlled treatment trials have been reported.
Gastroesophageal reflux
disease 		Standard treatmentConsider referral to gastroenterologist for those w/severe issues.
Renal anomalies Standard treatmentConsider referral to urologist &/or nephrologist.
Seizures Standard treatment w/ASM by experienced neurologist 1Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.

ASM = anti-seizure medication

1.

Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: Kleefstra Syndrome

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