Quality of Life and Well-Being for Children and Youth With Special Health Care Needs and their Families: A Vision for the Future

Coleman, Cara; Morrison, Mia; Perkins, Sarah K; Brosco, Jeffrey P.; Schor, Edward L.

doi:10.1542/peds.2021-056150g

“…Determining the well-being of children identified with newborn screening has been a topic of discussion since the founding advisory committee members started discussing a national recommendation panel [ 16 , 17 ]. The LTFU data presented here provide evidence that children can be identified through public health long-term follow-up systems, and the vast majority are being followed by the appropriate clinical providers and meeting the recommended guidelines for follow-up.…”

Section: Discussionmentioning

confidence: 99%

Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening

Kellar-Guenther,

Barringer,

Raboin

et al. 2024

IJNS

0

View full text Add to dashboard Cite

Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested a core set of minimal LTFU data elements. After an iterative data collection process and the development of a data collection tool, the group agreed on the minimal LTFU data elements. The denominator captured all infants with an NBS diagnosis, accounting for children who moved or died prior to the follow-up year. They also agreed on three LTFU outcomes: if the child was still alive, had contact with a specialist, and received appropriate care specific to their diagnosis within the year. The six programs representing NBS public health programs, clinical providers, and research programs provided data across multiple NBS disorders. In 2022, 83.8% (563/672) of the children identified by the LTFU programs were alive and living in the jurisdiction; of those, 92.0% (518/563) saw a specialist, and 87.7% (494/563) received appropriate care. The core LTFU data elements can be applied as a foundation to address the impact of early diagnosis by NBS within and across jurisdictions.

show abstract

“…Determining the well-being of children identified with newborn screening has been a topic of discussion since the founding advisory committee members started discussing a national recommendation panel [16,17]. The LTFU data presented here provide evidence that children can be identified through public health long-term follow-up systems, and the vast majority are being followed by the appropriate clinical providers and meeting the recommended guidelines for follow-up.…”

Section: Discussionmentioning

confidence: 99%

Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening

Kellar-Guenther,

Barringer,

Raboin

et al. 2024

Preprint

0

View full text Add to dashboard Cite

Newborn screening (NBS) is hailed as a public health success, but little is known about what happens to these children after diagnosis. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort by state NBS programs from clinicians. Six programs have been working towards a core minimal LTFU dataset, starting with data elements proposed by the Advisory Committee on Heritable Disorders in Newborns and Children’s Follow-up and Treatment workgroup (ACHDNC FUTR). This minimal data set could begin to address the impact of early diagnosis by NBS. After three rounds of data collection and revision to a data collection tool that defines the minimal LTFU data elements, the group agreed that it was most important for the dataset to capture two items for the denominator--diagnosis and if the child moved or died—with three outcomes: if the child was still alive, if the child had contact with a specialist, and if they received appropriate care specific to their diagnosis within the year. All six programs were able to provide these data. In 2022, about 83.8% (563/672) of the children in these LTFU programs were alive, 92.0% saw a specialist, and 87.7% received appropriate care.

show abstract

“…Determining the well-being of children identified by newborn screening has been a topic of discussion since the founding advisory committee members started discussion a national recommendation panel [22,23]. The LTFU data presented here provides evidence that children can be identified through public health long-term follow-up systems, and the vast majority are being followed by the appropriate clinical providers and meeting the recommended guidelines for followup.…”

Section: Discussionmentioning

confidence: 99%

Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening

Kellar-Guenther,

Barringer,

Raboin

et al. 2024

Preprint

1

0

View full text Add to dashboard Cite

Newborn screening (NBS) is hailed as a public health success, but little is known about what happens to these children after diagnosis. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort by state NBS programs from clinicians. Six programs have been working towards a core minimal LTFU dataset, starting with data elements proposed by the Advisory Committee on Heritable Disorders in Newborns and Children’s Follow-up and Treatment workgroup (ACHDNC FUTR). This minimal data set could begin to address the impact of early diagnosis by NBS. After three rounds of data collection and revision to a data collection tool that defines the minimal LTFU data elements, the group agreed that it was most important for the dataset to capture two items for the denominator--diagnosis and if the child moved or died—with three outcomes: if the child was still alive, if the child had contact with a specialist, and if they received appropriate care specific to their diagnosis within the year. All six programs were able to provide these data. In 2022, about 83.8% (563/672) of the children in these LTFU programs were alive, 92.0% saw a specialist, and 87.7% received appropriate care.

show abstract

Quality of Life and Well-Being for Children and Youth With Special Health Care Needs and their Families: A Vision for the Future

Cited by 18 publications

References 28 publications

Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening

Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening

Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening

Building a Minimal Long-Term-Follow-Up Data Set for Newborn Screening

Contact Info

Product

Resources

About