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Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

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Book cover JIMD Reports - Volume 10

Part of the book series: JIMD Reports ((JIMD,volume 10))

Abstract

Educational achievement, which for individuals with the metabolic disorder classic galactosemia (GAL) is significantly lower than in the wider population, correlates with self-reported quality of life. Phonological awareness skills underpin the development of literacy, and although literacy is a key contributor to successful academic outcomes, no study to date has investigated phonological awareness skills in children with GAL. This study investigated phonological awareness (PA) in four school-aged children with the disorder, two of whom were siblings. Age range for the children was 7 years 7 months to 9 years 2 months. Each child was assessed with the Phonological Awareness criterion-referenced subtest from the Clinical Evaluation of Language Fundamentals-Fourth Edition. Included in the data for analysis was each child’s performance measures obtained from their most recent assessment of cognitive and lexical development. A number of descriptive analyses were undertaken on the data. One child, who met her age criterion for PA, had cognitive and lexical development skills in the average range. The remaining three children failed to meet their age criteria. Although these three children presented with clinically similar cognitive and lexical development skills, disparate PA skills were identified. The PA skills of one of the sibling pair were notably more advanced than his older sibling. The limitations of relying on behavioural test results in children with GAL to predict those most at risk of reduced skill development are discussed in terms future research directions.

Competing interests: None declared

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Abbreviations

CELF-4:

Clinical Evaluation of Language Fundamentals-Fourth Edition

EVT-2:

Expressive Vocabulary Test-Second Edition

GAL:

Galactosemia

PA:

Phonological awareness

PPVT-4:

Peabody Picture Vocabulary Test-Fourth Edition

SES:

Socio-economic status

STM:

Short-term memory

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Acknowledgement

The authors wish to thank the four children who participated in the research. This study was supported by funding from Apex Foundation for Research into Intellectual Disability (Australia).

Author information

Authors and Affiliations

  1. Centre for Neurogenic Communication Disorders Research, School of Health and Rehabilitation Sciences, The University of Queensland, 4072, Brisbane, Australia

    Fiona M. Lewis & Bruce E. Murdoch

  2. Department of Metabolic Medicine, The Royal Children’s Hospital, Brisbane, Australia

    David J. Coman

  3. School of Medicine, The University of Queensland, Brisbane, Australia

    David J. Coman

  4. Department of Speech Pathology, The Royal Children’s Hospital, Brisbane, Australia

    Maryann Syrmis & Sarah Kilcoyne

Authors
  1. Fiona M. Lewis
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  2. David J. Coman
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  3. Maryann Syrmis
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  4. Sarah Kilcoyne
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  5. Bruce E. Murdoch
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Corresponding author

Correspondence to Fiona M. Lewis .

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Editors and Affiliations

  1. Sektionen für Humangenetik und Klinische, Medizinische Universität Innsbruck, Schöpfstr. 41, Innsbruck, A-6020, Austria

    Johannes Zschocke

  2. Washington State University, Clinical Pharmacology Unit, Division of Health Sciences, E. Spokane Falls Blvd. 412, Spokane, 99210-1495, Washington, USA

    K Michael Gibson

  3. , Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, United Kingdom

    Garry Brown

  4. Medical Center, Department of Pediatrics, Radboud University Nijmegen, Geert Grooteplein 9, Nijmegen, 6500 HB, Netherlands

    Eva Morava

  5. Heidelberg University Hospital, Center for Child and Adolescent Medicine, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Verena Peters

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Communicated by: Alberto B Burlina

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Lewis, F.M., Coman, D.J., Syrmis, M., Kilcoyne, S., Murdoch, B.E. (2012). Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases. In: Zschocke, J., Gibson, K., Brown, G., Morava, E., Peters, V. (eds) JIMD Reports - Volume 10. JIMD Reports, vol 10. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_200

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  • DOI: https://doi.org/10.1007/8904_2012_200

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  • Print ISBN: 978-3-642-37333-6

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