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  1. Artikel: Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India.

    Grewal, Meenu / Muranjan, Mamta

    Journal of pediatric genetics

    2020  Band 10, Heft 4, Seite(n) 300–304

    Abstract: The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 ...

    Abstract The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 months, between consultation with primary physician and visit to genetic clinic of 0 to 128 months, from visit to genetic clinic and diagnosis of 1 to 111 months, and that between onset of symptoms and diagnosis 1 to 154 months. Major causes for delayed diagnosis were symptoms overlooked by physician (54%), late consultation by care giver (48.6%), late onset of symptoms (43.2%), and resource crunch (32.4%). Diagnosis at referral other than MPS was noted in 45%. Thus, diagnostic delay for MPS is common due to health seeking practices of parents, as well as physicians' clinical practices. Overcoming these barriers would necessitate strengthening awareness and educational activities for physicians and lay public.
    Sprache Englisch
    Erscheinungsdatum 2020-09-18
    Erscheinungsland Germany
    Dokumenttyp Journal Article
    ISSN 2146-4596
    ISSN 2146-4596
    DOI 10.1055/s-0040-1716707
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India

    Grewal, Meenu / Muranjan, Mamta

    Journal of Pediatric Genetics

    2020  Band 10, Heft 04, Seite(n) 300–304

    Abstract: The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 ...

    Abstract The present study examined referral pattern and diagnostic practices for mucopolysaccharidosis (MPS) in India in 40 patients with a confirmed diagnosis. Time lag between age of onset of symptoms and consultation with primary physician ranged from 0 to 84 months, between consultation with primary physician and visit to genetic clinic of 0 to 128 months, from visit to genetic clinic and diagnosis of 1 to 111 months, and that between onset of symptoms and diagnosis 1 to 154 months. Major causes for delayed diagnosis were symptoms overlooked by physician (54%), late consultation by care giver (48.6%), late onset of symptoms (43.2%), and resource crunch (32.4%). Diagnosis at referral other than MPS was noted in 45%. Thus, diagnostic delay for MPS is common due to health seeking practices of parents, as well as physicians' clinical practices. Overcoming these barriers would necessitate strengthening awareness and educational activities for physicians and lay public.
    Schlagwörter lysosomal storage disorders ; glycosaminoglycans ; inborn errors of metabolism
    Sprache Englisch
    Erscheinungsdatum 2020-09-18
    Verlag Georg Thieme Verlag KG
    Erscheinungsort Stuttgart ; New York
    Dokumenttyp Artikel
    ISSN 2146-460X ; 2146-4596
    ISSN (online) 2146-460X
    ISSN 2146-4596
    DOI 10.1055/s-0040-1716707
    Datenquelle Thieme Verlag

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