Appeal type: Medical necessity
Decision: Upheld

Diagnosis: Microdeletion of chromosome number 5 (Halpoinsuffiency Syndrome), Failure to Thrive 
Treatment: Private Duty Nursing (PDN) services for 17 hours per day, 5 days per week (outside of day program hours) and 24 hours per day, 2 days per week (on the days not attending day program, weekends) 

The insurer is denied coverage for Private Duty Nursing (PDN) services for 17 hours per day, 5 days per week (outside of day program hours) and 24 hours per day, 2 days per week (on the days not attending day program, weekends). The denial is upheld. 

This is a female patient with a medical history of microdeletion of chromosome number 5 (Halpoinsuffiency Syndrome), failure to thrive, feeding difficulty, gastrostomy (G) tube dependence, global developmental delays, legal blindness, and seizure disorder. The provider note indicated that due to the patient's diagnosis she required skilled services to meet her daily needs. The patient required 24-hour care 7 days a week with standing hours when she could not attend her day program. The patient attended a day program where she received private duty nursing for transportation and throughout the day as well as a 1-1 aide. The patient was non-verbal and non-ambulatory. The patient required a wheelchair for transportation. The patient required all medications via tube under full assistance of administration. The patient was noted to have a cognitive ability of a 3-9-month-old infant. 

The 5q14.3 microdeletion has recently been uncovered as a clinical syndrome presenting with severe intellectual disability, limited walking ability, febrile convulsions, absence of speech, and minor brain malformations. MEF2C was suggested as a gene mainly responsible for the 5q14.3 microdeletion syndrome. (Ann Relabel Med > Volume 39(3); 2015) The MEF2C gene is essential for early neurogenesis, neuronal migration, and differentiation. (Neurogenetics 14: 71-75, 2013}. Thus, the literature indicates that the patient has all the symptoms of this disorder. 

The patient has a syndrome that causes severe intellectual disability, and seizures and had these symptoms since she was an infant and no changes were reported that require the requested services. Based on the records submitted, the child is on pureed food orally and via gastrostomy tube. While there is a concern for aspiration, data provided do not note any instance of aspiration. Neurology notes reviewed and patient apparently has episodes of spastic seizures but no grand mal seizure activity and appears to be on a stable regimen of antiepileptic medications including valproic acid, topirimate. Submitted logs were reviewed- dates of acquisition not clear as only times but no dates were generally noted- indicated no episodes of aspiration or seizure activity needing emergent management. The care provided based on the logs would be considered custodial. 

The health care plan acted reasonably and with sound medical judgment in the best interest of the child. 

The carrier's denial of coverage for Private Duty Nursing (PDN) services for 17 hours per day, 5 days per week (outside of day program hours) and 24 hours per day, 2 days per week (on the days not attending day program, weekends) is upheld. The medical necessity is not substantiated.