Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results

Abstract

Abstract:To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, Wisconsin), performed a survey study of parents and physicians caring for children identified with CH. The clinicians and parents of 409 children with CH regionally identified in 2007 were invited to participate in a voluntary survey. Responses relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided/received were collected from 214 clinicians and 77 parents. In total, 99% had undergone a confirmatory test following positive newborn screening and 55% had imaging at diagnosis, but only 50% were identified as having the etiology identified. Thyroid withdrawal challenge testing was the choice method for re-evaluating thyroid function, but the approach varied. Clinician and parent responses to education and genetic counseling also differed. Clinicians report face-to-face education as the most common method, with less than 50% providing handouts to patients. Only 14% of patients were referred to a genetics counselor. Of parents reporting on their educational experience, 86% received face-to-face education from a pediatric endocrinologist and 4% received education from a genetic counselor. Only 65%, however, were satisfied with their education. These survey data suggest a lack of a standardized approach to diagnosis, follow-up, education, and genetic counseling. This collaborative effort provides insight into developing three-year follow-up, education and genetic counseling guidelines for children diagnosed with CH.

Evaluation of the First Three Years of Treatment of Children with Congenital Hypothyroidism Identified through the Alberta Newborn Screening Program

“…Based on health insurance claims databases in the United States, Kemper and colleagues identified that approximately 40% of children with CH appeared to have discontinued treatment by 36 months after initiation of treatment [ 25 ]. Up to half of patients with a diagnosis of CH may be lost to follow-up [ 25 , 26 , 27 ]. The Region 4 Midwest Genetics Collaborative established the Congenital Hypothyroidism 3-Year Follow-Up Workgroup in 2011.…”

“…From the Clinician Survey, clinicians reported that some patients had mild or transient hypothyroidism and had normal thyroid testing off medication; however, some parents had stopped treatment on their own. From the Parent Survey, only two-thirds of parents replied that they were satisfied with the level of medical education they received from their infants’ provider [ 27 ].…”