ArticleJournal of pediatric genetics2021
Diagnosis is in the Eye of the Beholder: Barriers to Early Diagnosis of Mucopolysaccharidosis in Children in India.
Article in Journal of pediatric genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Health service utilization, economic burden and quality of life of patients with mucopolysaccharidosis in China.Orphanet journal of rare diseases · 2024Article
- Lysosomal storage disorders: from biology to the clinic with reference to India.The Lancet regional health. Southeast Asia · 2023Review
- Misdiagnosis in mucopolysaccharidoses.Journal of applied genetics · 2022Review
Corrections and comments
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Authors and funding
2 authors.
Funding
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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.
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