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02-09-2020 | Brief Report

Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders

Auteurs: María Elena Márquez-Caraveo, Isabel Ibarra-González, Rocío Rodríguez-Valentín, Miguel Ángel Ramírez-García, Verónica Pérez-Barrón, Eduardo Lazcano-Ponce, Marcela Vela-Amieva

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 6/2021

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Abstract

The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders.
Literatuur
go back to reference Achenbach, T. M., & Rescorla, L. A. (2001). Manual for the ASEBA school. Age forms & profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth & Families. Achenbach, T. M., & Rescorla, L. A. (2001). Manual for the ASEBA school. Age forms & profiles. Burlington, VT: University of Vermont, Research Center for Children, Youth & Families.
go back to reference Ibarra-González, I., Rodríguez-Valentín, R., Lazcano-Ponce, E., & Vela-Amieva, M. (2017). Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study. Salud Publica de Mexico, 59(4), 423–428.CrossRef Ibarra-González, I., Rodríguez-Valentín, R., Lazcano-Ponce, E., & Vela-Amieva, M. (2017). Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study. Salud Publica de Mexico, 59(4), 423–428.CrossRef
go back to reference Rutter, M., Le Couteur, A., & Lord, C. (2003). Autism diagnostic interview-revised. Los Angeles, CA: Western Psychological Services. Rutter, M., Le Couteur, A., & Lord, C. (2003). Autism diagnostic interview-revised. Los Angeles, CA: Western Psychological Services.
go back to reference Sheehan, D. V., Lecrubier, Y., Shytle, D., Milo, K., Hergueta, T., & Colón, S. M. (2000). Mini international neuropsychiatric interview for children and adolescents [M.I.N.I. KID]. Version 1.1 Medical Outcome Systems, Inc. Sheehan, D. V., Lecrubier, Y., Shytle, D., Milo, K., Hergueta, T., & Colón, S. M. (2000). Mini international neuropsychiatric interview for children and adolescents [M.I.N.I. KID]. Version 1.1 Medical Outcome Systems, Inc.
go back to reference Sparrow, S. S., Cicchetti, D. V., & Balla, D. A. (2005). Vineland-II: Vineland adaptive behavior scales, survey forms manual (2nd ed.). Minneapolis, MN: Pearson. Sparrow, S. S., Cicchetti, D. V., & Balla, D. A. (2005). Vineland-II: Vineland adaptive behavior scales, survey forms manual (2nd ed.). Minneapolis, MN: Pearson.
go back to reference Sweetman, L. (1991). Organic acids analysis. In F. A. Hommes (Ed.), Techniques in diagnostic human biochemical genetics (pp. 143–176). New York: Wiley-Liss. Sweetman, L. (1991). Organic acids analysis. In F. A. Hommes (Ed.), Techniques in diagnostic human biochemical genetics (pp. 143–176). New York: Wiley-Liss.
go back to reference Urv, T. K., & Parisi, M. A. (2017). Newborn Screening: Beyond the Spot. In M. de la Paz, D. Taruscio, & S. C. Groft (Eds.), Rare diseases epidemiology: Update and Overview (pp. 323–346). Cham: Springer.CrossRef Urv, T. K., & Parisi, M. A. (2017). Newborn Screening: Beyond the Spot. In M. de la Paz, D. Taruscio, & S. C. Groft (Eds.), Rare diseases epidemiology: Update and Overview (pp. 323–346). Cham: Springer.CrossRef
go back to reference Üstün, T. B., Kostanjsek, N., Chatterji, S., & Rehm, J. (Eds.). (2010). Measuring health and disability: Manual for WHO disability assessment schedule WHODAS 2.0. Geneva: World Health Organization. Üstün, T. B., Kostanjsek, N., Chatterji, S., & Rehm, J. (Eds.). (2010). Measuring health and disability: Manual for WHO disability assessment schedule WHODAS 2.0. Geneva: World Health Organization.
go back to reference Wasim, M., Khan, H. N., Ayesha, H., Goorden, S. M. I., Vaz, F. M., Van Karnebeek, C. D. M., et al. (2019). Biochemical screening of intellectually disabled patients: A stepping stone to initiate a newborn screening program in Pakistan. Frontiers in Neurology, 10(JUL), 1–7. https://doi.org/10.3389/fneur.2019.00762.CrossRef Wasim, M., Khan, H. N., Ayesha, H., Goorden, S. M. I., Vaz, F. M., Van Karnebeek, C. D. M., et al. (2019). Biochemical screening of intellectually disabled patients: A stepping stone to initiate a newborn screening program in Pakistan. Frontiers in Neurology, 10(JUL), 1–7. https://​doi.​org/​10.​3389/​fneur.​2019.​00762.CrossRef
go back to reference Wechsler, D. (2005). Escala de inteligencia para escolares. WISC-IV. Mexico City: El Manual Moderno. Wechsler, D. (2005). Escala de inteligencia para escolares. WISC-IV. Mexico City: El Manual Moderno.
Metagegevens
Titel
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders
Auteurs
María Elena Márquez-Caraveo
Isabel Ibarra-González
Rocío Rodríguez-Valentín
Miguel Ángel Ramírez-García
Verónica Pérez-Barrón
Eduardo Lazcano-Ponce
Marcela Vela-Amieva
Publicatiedatum
02-09-2020
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 6/2021
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-020-04682-2