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Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series

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JIMD Reports, Volume 18

Part of the book series: JIMD Reports ((JIMD,volume 18))

Abstract

Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor developmental outcome. Information regarding the long-term neurodevelopmental outcome of children with GA-I treated early is sparse.

We recruited children with a confirmed diagnosis of GA-I diagnosed via newborn screening, treated in our centre and >3 years of age (n = 6). Children were assessed at two time points using a comprehensive neuropsychological test battery. Four of these had been the subject of a previous report. All participants were male, 3–6 years at the initial assessment and 6–12 years of age at the follow-up assessment.

Fine motor skills were below average in all patients. Speech, which was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in two patients. Compounding factors included child neglect, family history of autism and multiple admissions to hospital (n = 1 in each).

GA-I affects fine motor skills and speech, regardless of early treatment, but not IQ scores. Patients with GA-I should be referred for assessment and appropriate early intervention. Further research is needed to correlate specific neuropsychological deficits with neuroimaging.

Competing interests: None declared

Presented in part (poster presentation) at the International Neuropsychological Society 41st Annual meeting, Hawaii, USA, 2013

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Acknowledgements

This work was supported by the Victorian Government’s Operational Infrastructure Support Program. This manuscript is being submitted as part of the requirements of the University of Melbourne for PhD with publication.

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Authors and Affiliations

  1. Department of Child Neuropsychology, Murdoch Childrens Research Institute, Australian Centre for Child Neuropsychological Studies, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, VIC, 3052, Australia

    Amy Brown, Louise Crowe & Vicki Anderson

  2. Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia

    Amy Brown, Vicki Anderson & Avihu Boneh

  3. Department of Psychology, University of Montreal, Montreal, QC, H3T 1 J4, Canada

    Miriam H. Beauchamp

  4. Ste-Justine Hospital Research Center, Montreal, QC, Canada

    Miriam H. Beauchamp

  5. Department of Psychology, Royal Children’s Hospital, Melbourne, VIC, Australia

    Vicki Anderson

  6. Metabolic Research, Murdoch Childrens Research Institute, Royal Childrens Hospital, Melbourne, VIC, Australia

    Avihu Boneh

Authors
  1. Amy Brown
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  2. Louise Crowe
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  3. Miriam H. Beauchamp
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  4. Vicki Anderson
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Corresponding author

Correspondence to Amy Brown .

Editor information

Editors and Affiliations

  1. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  2. Division for Metabolic Diseases, University Children´s Hospital, Zürich, Switzerland

    Matthias Baumgartner

  3. Department of Pediatrics IGMD, Tulane University Medical School Hayward Genetics Center, New Orleans, Louisiana, USA

    Eva Morava

  4. Division of Child and Adolescent Neurolo, Mayo Clinic, Rochester, USA

    Marc Patterson

  5. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  6. Heidelberg University Hospital Centre for Child & Adolescent Med, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Bridget Wilcken

Appendices

Synopsis

Children with glutaric aciduria type I who are diagnosed through newborn screening have reduced fine motor skills and are at risk of speech and language difficulties despite early diagnosis and treatment.

Compliance with Ethics Guidelines

Amy Brown, Louise Crowe, Vicki Anderson, Miriam Beauchamp and Avihu Boneh declare no conflict of interest.

Informed Consent

All procedures followed were in accordance with the ethical standards of responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as advised in 2000 (5). Informed consent was obtained from all patients for being included in the study. Ethics approval was granted from the RCH Human Research Ethics Committee (HREC #32218A).

Details of the Contributions of Individual Authors

Amy Brown recruited patient subjects, performed neuropsychological assessments, devised a study protocol, collected data and wrote and edited the manuscript.

Louise Crowe participated in discussions about the manuscript and assisted in reviewing and editing the manuscript.

Miriam Beauchamp devised previous study protocol, collected previous data and assisted in reviewing and editing the manuscript.

Vicki Anderson participated in devising a study protocol, in the discussions about the manuscript and in reviewing and editing the manuscript.

Avihu Boneh participated in devising a study protocol, in the discussions about the manuscript and in reviewing and editing the manuscript.

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Brown, A., Crowe, L., Beauchamp, M.H., Anderson, V., Boneh, A. (2014). Neurodevelopmental Profiles of Children with Glutaric Aciduria Type I Diagnosed by Newborn Screening: A Follow-Up Case Series. In: Zschocke, J., Baumgartner, M., Morava, E., Patterson, M., Rahman, S., Peters, V. (eds) JIMD Reports, Volume 18. JIMD Reports, vol 18. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2014_360

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  • DOI: https://doi.org/10.1007/8904_2014_360

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