Medical & Health Care for Those with Dup15q Syndrome
To establish the needs of those diagnosed with Dup15q syndrome, a complete review of symptoms, physical examination, assessments of possible feeding difficulties associated with hypotonia, neurologic examinations including assessment for seizure activity and baseline EEG, and consultation with a clinical geneticist and/or genetic counselor are recommended. A need for ongoing specialist care is frequent.
It is suggested that a multidisciplinary team evaluate infants for motor and speech development and later assist in referrals for appropriate educational programs. Supportive care may include: occupational and physical therapy, alternative and augmentative communication, behavioral therapy (e.g., applied behavioral analysis therapy), psychotropic medications for behavioral manifestations, and standard management for seizures. It is also notable that behavioral changes may be indicators of physical problems such as constipation or pain. Individuals with Dup15q syndrome should be carefully examined if there is an acute change in behavior.
It is recommended that periodic surveillance be conducted for neurodevelopmental and/or developmental/behavioral, and monitoring for evidence of seizures and/or change in seizure type.