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Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results
Kupper A Wintergerst1, Erica Eugster2, Karen Andruszewski3
1Department of Pediatrics, Endocrinology, University of Louisville, Louisville, KY 40202, USA.
Insights
Management of congenital hypothyroidism (CH) lacks standardization. This study highlights variations in diagnosis, follow-up, and genetic counseling for CH patients, indicating a need for improved guidelines.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Public Health
Background:
- Newborn screening programs identify congenital hypothyroidism (CH) early.
- Standardized follow-up, education, and genetic counseling are crucial for CH management.
Purpose of the Study:
- To assess 3-year management and education patterns for children with CH.
- To identify variations in care provided by clinicians and parents.
- To inform the development of evidence-based guidelines.
Main Methods:
- A survey study was conducted across seven states in the Midwest Genetics Collaborative.
- Data were collected from 214 clinicians and 77 parents of children diagnosed with CH.
- Surveys covered treatment, monitoring, education, and genetic counseling.
Main Results:
- While 99% had confirmatory testing, only 50% had identified etiology.
- Approaches to thyroid withdrawal challenge testing varied.
- Significant differences were found in clinician-parent education and genetic counseling referrals, with low parent satisfaction.
Conclusions:
- Current practices for CH diagnosis, follow-up, education, and genetic counseling lack standardization.
- There is a clear need for developing unified guidelines to improve care for CH patients.
- Collaborative efforts are essential for establishing best practices in CH management.
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.
