The Face of XXXX in India: A Need for Early Diagnosis.

@entity2315 @entity1 @entity1120
OBJECTIVES: To study the temporal pattern of @entity2315 ( @entity2315 ) from onset of symptoms to the final diagnosis and to study the type and the frequency of the disease. METHODS: Retrospective analysis of the case record forms of the @entity1 attending the Genetic Clinic over a period of 12 y (January 2002- December 2013) was undertaken. Only the data of the @entity1 who had confirmatory enzyme analysis or mutation study for @entity2315 was further analysed. The age at onset, suspicion of the illness, first clinical presentation to a tertiary Genetic centre, and the age at the final diagnosis of these confirmed cases was noted. RESULTS: A total of 5,858 @entity1 were referred to the Genetic clinic in this period. The diagnosis of @entity2315 was suspected in 532 @entity1 (9.08  % of all referrals) and it could be confirmed in 119 cases (2.03  % of all referrals). Maximum @entity1 were diagnosed with @entity1120 (31.93  %) followed by Mucopolysaccharidoses (20.16  %). Mutation analysis was available in 21 @entity1 (17.64  % of the diagnosed cases). The median time interval between onset and suspicion was 6  mo. The median interval between onset and presentation to the authors'  Genetic clinic was 12  mo. The median interval between the onset of the disease and its confirmation was 14  mo. The median interval between presentation to the Genetic centre and diagnosis was barely 1  mo. CONCLUSIONS: The incidence of @entity2315 at authors' centre was 2.03  %, though it was suspected in 9.08  % of @entity1 . The delay in diagnosis was hugely due to the late suspicion and thereby the late referral to a tertiary centre.
