ArticleIndian journal of pediatrics2021
Outcome of Inherited Metabolic Disorders Presenting in the Neonatal Period.
Article in Indian journal of pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06108778 (Adescriptive Study on Incidence of Metabolic Disorders in Neonatal Convulsions), which is not on this map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Adescriptive Study on Incidence of Metabolic Disorders in Neonatal Convulsions
Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- Comparative analysis of burden of topmost disorders requiring rehabilitation services: a systematic review and meta-analysis.Journal of translational medicine · 2025Pooled it
- Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.Indian journal of pediatrics · 2021Review
- Rapid Detection and Treatment of Inborn Errors of Metabolism in the Newborn Period: Beginning of a New Trend.Indian journal of pediatrics · 2021Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo assess the outcome of infants who were diagnosed to have Inborn errors of metabolism (IEM) during neonatal period from a single center in South India.
methodsThis retrospective cohort study included consecutive neonates diagnosed to have IEM by biochemical testing or those detected using newborn screening (NBS) between November 2014 and July 2018. Disorders were categorized into intoxication and non-intoxication groups. Their presentation and outcome were described. Development at 12 mo was assessed objectively using DASII (Developmental assessment scale for Indian infants). Developmental quotient <70 was considered as delay. Mortality was analyzed using Kaplan Meier survival analysis.
resultsAmong the total of 33 (14 intoxication and 19 non-intoxication groups), 7 died in neonatal period, 3 were lost to follow-up, 9 expired during varying period leaving 14 under regular follow-up. NBS detected 3 of them, others presented symptomatically unwell during neonatal period. Median survival was 18 mo (95% CI 3.7 to 32.2). Kaplan Meier survival analysis revealed a significant difference in mortality in intoxication compared to non-intoxication group. Among 14 survivors, 7 (50%) had developmental delay; 5 (35%) had seizures; 6 (43%) had growth failure. Infants with encephalopathy as initial presentation had poorer prognosis. NBS detection rate was 1 in 1060 live births (3 positives out of 3180 NBS samples). Those detected by NBS remained well.
conclusionsMorbidity and mortality remain high in those diagnosed as IEM during neonatal period. Despite the small sample size, this study calls attention to implement NBS wherever feasible.
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