Utility of metabolic screening in neurological presentations of infancy
Abstract Background The first‐line use of specialized metabolic screening laboratories in the investigation of hypotonia and/or developmental delay remains a standard practice despite lack of supporting evidence. Our study aimed to address the utility of such testing by determining the proportion of...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-07-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51076 |
| _version_ | 1818598647054467072 |
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| author | Djurdja Djordjevic Etsuko Tsuchiya Megan Fitzpatrick Neal Sondheimer James J. Dowling |
| author_facet | Djurdja Djordjevic Etsuko Tsuchiya Megan Fitzpatrick Neal Sondheimer James J. Dowling |
| author_sort | Djurdja Djordjevic |
| collection | DOAJ |
| description | Abstract Background The first‐line use of specialized metabolic screening laboratories in the investigation of hypotonia and/or developmental delay remains a standard practice despite lack of supporting evidence. Our study aimed to address the utility of such testing by determining the proportion of patients whose diagnosis was directly supported by metabolic screening. Methods We performed a retrospective chart review study of 164 patients under age one who had screening metabolic laboratory testing done within the time period of one calendar year. Results Of patients screened, 9/164 (5.5%) had diagnoses supported by metabolic testing (two with nonketotic hyperglycinemia, three with ornithine transcarbamylase deficiency, one with propionic acidemia, one with a congenital disorder of glycosylation, one with D‐bifunctional protein deficiency, and one with GM1 Gangliosidosis). Of patients specifically evaluated for hypotonia and/or developmental delay, 5/79 (6.3%) were diagnosed with the aid of metabolic testing. All patients with positive screens presented with acute decompensation. Outside of this subgroup of high‐risk patients, no patients were diagnosed using metabolic testing. Screening laboratories were also ineffective in an outpatient setting, identifying only one of the seven outpatients who was ultimately diagnosed with an inborn error of metabolism. Conclusions These findings demonstrate that the yield of specialized metabolic screening testing is extremely low in infants with hypotonia and/or developmental delay, approaching zero outside of the specific setting of clinical decompensation or multi‐system involvement. Furthermore, many outpatient cases of IEM are not identified by screening studies. This information will help guide the diagnostic evaluation of hypotonia and/or global developmental delay. |
| first_indexed | 2024-12-16T12:07:01Z |
| format | Article |
| id | doaj.art-dc3fa4b95e3a4c9abf73f408a8a551aa |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-12-16T12:07:01Z |
| publishDate | 2020-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-dc3fa4b95e3a4c9abf73f408a8a551aa2022-12-21T22:32:18ZengWileyAnnals of Clinical and Translational Neurology2328-95032020-07-01771132114010.1002/acn3.51076Utility of metabolic screening in neurological presentations of infancyDjurdja Djordjevic0Etsuko Tsuchiya1Megan Fitzpatrick2Neal Sondheimer3James J. Dowling4Division of Neurology Hospital for Sick Children Toronto ON CanadaDivision of Neurology Hospital for Sick Children Toronto ON CanadaDivision of Neurology Hospital for Sick Children Toronto ON CanadaDivision of Clinical and Metabolic Genetics Hospital for Sick Children Toronto ON CanadaDivision of Neurology Hospital for Sick Children Toronto ON CanadaAbstract Background The first‐line use of specialized metabolic screening laboratories in the investigation of hypotonia and/or developmental delay remains a standard practice despite lack of supporting evidence. Our study aimed to address the utility of such testing by determining the proportion of patients whose diagnosis was directly supported by metabolic screening. Methods We performed a retrospective chart review study of 164 patients under age one who had screening metabolic laboratory testing done within the time period of one calendar year. Results Of patients screened, 9/164 (5.5%) had diagnoses supported by metabolic testing (two with nonketotic hyperglycinemia, three with ornithine transcarbamylase deficiency, one with propionic acidemia, one with a congenital disorder of glycosylation, one with D‐bifunctional protein deficiency, and one with GM1 Gangliosidosis). Of patients specifically evaluated for hypotonia and/or developmental delay, 5/79 (6.3%) were diagnosed with the aid of metabolic testing. All patients with positive screens presented with acute decompensation. Outside of this subgroup of high‐risk patients, no patients were diagnosed using metabolic testing. Screening laboratories were also ineffective in an outpatient setting, identifying only one of the seven outpatients who was ultimately diagnosed with an inborn error of metabolism. Conclusions These findings demonstrate that the yield of specialized metabolic screening testing is extremely low in infants with hypotonia and/or developmental delay, approaching zero outside of the specific setting of clinical decompensation or multi‐system involvement. Furthermore, many outpatient cases of IEM are not identified by screening studies. This information will help guide the diagnostic evaluation of hypotonia and/or global developmental delay.https://doi.org/10.1002/acn3.51076 |
| spellingShingle | Djurdja Djordjevic Etsuko Tsuchiya Megan Fitzpatrick Neal Sondheimer James J. Dowling Utility of metabolic screening in neurological presentations of infancy Annals of Clinical and Translational Neurology |
| title | Utility of metabolic screening in neurological presentations of infancy |
| title_full | Utility of metabolic screening in neurological presentations of infancy |
| title_fullStr | Utility of metabolic screening in neurological presentations of infancy |
| title_full_unstemmed | Utility of metabolic screening in neurological presentations of infancy |
| title_short | Utility of metabolic screening in neurological presentations of infancy |
| title_sort | utility of metabolic screening in neurological presentations of infancy |
| url | https://doi.org/10.1002/acn3.51076 |
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