Ramsey, LB; Prows, CA; Zhang, K; Saldana, SN; Sorter, MT; Pestian, JP; Wenstrup, RJ; Vinks, AA; Glauser, TA. Implementation of Pharmacogenetics at Cincinnati Childrens Hospital Medical Center Lessons Learned Over 14 Years of Personalizing Medicine. Clinical Pharmacology and Therapeutics. 2019; 105(1):49-52.
Dr. Ramsey’s paper describing the development of the Genetic Pharmacology Service at Cincinnati Children’s has been used as a model for other institutions developing similar pediatric pharmacogenetic testing programs in the US, Canada, and Israel. It is one of the few pharmacogenetic testing programs that is focused on children and gives pediatric-specific drug selection and dosing recommendations. She showed that nearly two thirds of patients tested need dosing adjustments based on just two genes that are involved in the metabolism of ~70% of all medications.
Blankenship, CM; Hunter, LL; Keefe, DH; Feeney, MP; Brown, DK; McCune, A; Fitzpatrick, DF; Lin, L. Optimizing Clinical Interpretation of Distortion Product Otoacoustic Emissions in Infants. Ear and Hearing. 2018; 39(6):1075-1090.
Neonatal hearing screening (NHS) has transformed our ability to offer early, effective intervention, transforming the lifelong social and economic outcomes for children with hearing loss. The most common method for NHS is using otoacoustic emissions (OAEs) that assess the integrity of the ears, including the hair cells of the inner ear, in a matter of seconds. This paper provides updated means for delivering, measuring and sensitizing infant OAEs, the most major advancement in NHS methodology for more than 20 years.
Bailes, AF; Gannotti, M; Bellows, DM; Shusterman, M; Lyman, J; Horn, SD. Caregiver knowledge and preferences for gross motor function information in cerebral palsy. Developmental Medicine and Child Neurology. 2018; 60(12):1264-1270.
Caregivers of children with cerebral palsy (CP) want as much information as possible about their child’s condition including prognosis and rehabilitation needs. The Gross Motor Function Classification System (GMFCS) was designed to be used by clinicians to help families understand a child’s current abilities and to discuss what their child’s gross motor abilities are likely to be in the future. This cross sectional online survey questionnaire study of 303 caregivers of children with CP examined caregivers’ knowledge and preferences for learning about their child’s GMFCS level. The results indicate that fewer than half of caregivers know their child’s GMFCS level and most want to know how their child’s function compares to other children with CP. Caregivers want to discuss this information with the therapist and doctor. Clinicians should improve information sharing techniques and skills to meet needs and preferences of caregivers of children with CP.