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J Pediatr Genet 2021; 10(04): 300-304
DOI: 10.1055/s-0040-1716707
Original Article

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

Meenu Grewal
1   Department of Pediatrics, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Parel, Mumbai, Maharashtra, India
,
Mamta Muranjan 
1   Department of Pediatrics, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Parel, Mumbai, Maharashtra, India
› Institutsangaben Funding None.
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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.

Keywords

lysosomal storage disorders - glycosaminoglycans - inborn errors of metabolism

Ethical Approval

This study was reviewed and approved by the Institution's ethics committee.


Authors' Contributions

M.M. conceptualized the study, designed the protocol, supervised data collection and analysis, and wrote the manuscript. M.G. collected and analyzed the data.




Publikationsverlauf

Eingereicht: 31. Mai 2020

Angenommen: 07. August 2020

Artikel online veröffentlicht:
18. September 2020

© 2020. Thieme. All rights reserved.

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