The current state of adult metabolic medicine in the United States: Results of a nationwide survey.

2022

1722-1731

08/2022

1530-0366

PURPOSE: Patients with inherited metabolic disorders (IMDs) now have improved health outcomes and increased survival into adulthood. There is scant evidence on managing adults with IMDs. We present an analysis of current care practices for adults with IMDs in the United States.

METHODS: We created and distributed an online survey to US members of the Society of Inherited Metabolic Disorders. The survey addressed ambulatory care, acute management, and health care transition (HCT) practices of adults with IMDs.

RESULTS: The survey was completed by 91 providers from 73 institutions. Most adult patients with IMDs receive lifelong care from a single metabolic clinician, predominantly in pediatric clinic settings. Adults receive comprehensive ambulatory metabolic care, but fewer trainees participate compared with pediatric visits. Most acute IMD management occurs in pediatric hospitals. Clinician comfort with HCT increased the frequency of HCT planning. Overall, all respondents felt that providing specialized care to adults with IMDs is high value.

CONCLUSION: Our survey demonstrates the paucity of clinical resources dedicated to adult metabolic medicine. Care is fragmented and varies by medical system. Interest in HCT is robust but would benefit from standardized practices. Our findings reinforce the need for greater focus on adult metabolic medicine in the United States.

10.1016/j.gim.2022.04.018

Genet Med

35543711

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

2020

475-480

2020 11 01

1944-7558

<p>Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, the reliability of norm-referenced scores is lower at the tails of the distribution, resulting in floor effects and increased measurement error for people with neurodevelopmental disorders. In contrast, the person ability scores generated during the process of constructing a standardized test with item response theory are designed to assess change. We illustrate these limitations of norm-referenced scores, and relative advantages of ability scores, using data from studies of autism spectrum disorder and creatine transporter deficiency.</p>

10.1352/1944-7558-125.6.475

Am J Intellect Dev Disabil

33211814

Early Indicators of Creatine Transporter Deficiency.

2019

283-285

2019 Mar

1097-6833

<p>Early identification is a goal for creatine transporter deficiency and will be critical for future treatment. Before their first birthday, one-half of this sample showed both a significant feeding/weight gain issue and delayed sitting or crawling. Combined, these early indicators could have alerted providers to conduct a urine screen.</p>

10.1016/j.jpeds.2018.11.008

J. Pediatr.

30579583