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The clinical geneticist and the evaluation of failure to thrive versus failure to feed

Jillian Rabago, Kayt Marra, Nikki Allmendinger

    American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
    |November 20, 2015
    PubMed

    Insights

    Pediatric failure to thrive (FTT) evaluations often involve genetic testing for conditions like chromosomal disorders. A structured approach aids in distinguishing genetic causes from neglect or abuse.

    Area of Science:

    • Pediatric Genetics
    • Clinical Genetics
    • Developmental Pediatrics

    Background:

    • Failure to thrive (FTT) is a common referral reason in pediatric clinical genetics.
    • Genetic etiologies are frequently implicated in FTT, alongside dysmorphic features and developmental delays.

    Purpose of the Study:

    • To review the pediatric definitions and genetic differential diagnoses for FTT.
    • To present a diagnostic framework for differentiating FTT of organic origin from non-organic causes.

    Main Methods:

    • Literature review of genetic causes of FTT.
    • Case study analysis of challenging FTT presentations.
    • Development of a ten-step diagnostic algorithm.

    Main Results:

    • The genetic differential for FTT is broad, encompassing chromosomal abnormalities, microdeletion/duplication syndromes, imprinting disorders, DNA repair defects, teratogenic effects, metabolic disorders, and skeletal dysplasias.
    • Clinical cases illustrate diagnostic complexities in FTT.
    • A ten-step approach is proposed to enhance diagnostic accuracy.

    Conclusions:

    • Accurate differentiation of FTT is crucial for appropriate management.
    • A systematic diagnostic strategy can improve the identification of genetic and metabolic causes of FTT.
    • Distinguishing organic FTT from 'failure to feed' due to neglect or abuse is a critical clinical challenge.

    Keywords:
    child-fabricated illnessfailure to feedfailure to thrivegenetic differential of failure to thrivenutritional neglect

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