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Background <p>Autism spectrum disorder (ASD) arises from complex genetic and environmental interactions. Populations in South Asia remain underrepresented in ASD research despite high consanguinity rates, distinct cultural exposures, and widespread micronutrient deficiencies.</p> Methods <p>We conducted a quantitative observational study in a sibling-matched Pakistani cohort. Sociodemographic predictors of ASD severity were evaluated in 48 children with ASD using binary logistic regression, with severity dichotomized as mild versus moderate–severe. Predictor variables included gender, family history of neurodevelopmental conditions, and screen time. Serum 25-hydroxy-vitamin D and vitamin B12 levels were measured in 25 ASD–control sibling pairs.</p> Results <p>Binary logistic regression indicated that a positive family history of neurodevelopmental conditions was significantly associated with greater ASD severity (<i>p</i> = 0.044), suggesting a familial contribution to symptom burden. Gender and screen time were not significantly associated with severity. Biochemical analyses showed no significant differences in serum vitamin D or vitamin B12 concentrations between children with ASD and their unaffected siblings. However, within the ASD group, lower serum vitamin D levels were modestly but significantly associated with greater clinical severity (Spearman’s ρ = -0.432, <i>p</i> = 0.031).</p> Conclusions <p>In this Pakistani cohort, family history of neurodevelopmental conditions was the only sociodemographic factor associated with ASD severity. While vitamin B12 levels did not differ between groups, lower serum vitamin D concentrations were associated with more severe clinical presentations. These findings highlight the interplay between familial risk and nutritional status and underscore the need for larger, longitudinal studies to clarify the directionality and clinical significance of these associations in South Asian populations.</p>

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Biochemical and Sociodemographic Correlates of Autism Spectrum Disorder Severity in Pakistani Children: A Sibling-Matched Study

  • 期刊论文

  • 发表日期：

    2026年2月26日

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  • Farah Wazir,
  • Sumreena Mansoor,
  • Muhammad Jawad Khan,
  • Nazia Bibi,
  • Muhammad Daniyal Shafqat,
  • Warda Gul,
  • Lubna Meraj,
  • Faiza Badar,
  • Sidra Bokhari,
  • Syed Salman Naeem Gilani,
  • Nosheen Kazmi

摘要

Background

Autism spectrum disorder (ASD) arises from complex genetic and environmental interactions. Populations in South Asia remain underrepresented in ASD research despite high consanguinity rates, distinct cultural exposures, and widespread micronutrient deficiencies.

Methods

We conducted a quantitative observational study in a sibling-matched Pakistani cohort. Sociodemographic predictors of ASD severity were evaluated in 48 children with ASD using binary logistic regression, with severity dichotomized as mild versus moderate–severe. Predictor variables included gender, family history of neurodevelopmental conditions, and screen time. Serum 25-hydroxy-vitamin D and vitamin B12 levels were measured in 25 ASD–control sibling pairs.

Results

Binary logistic regression indicated that a positive family history of neurodevelopmental conditions was significantly associated with greater ASD severity (p = 0.044), suggesting a familial contribution to symptom burden. Gender and screen time were not significantly associated with severity. Biochemical analyses showed no significant differences in serum vitamin D or vitamin B12 concentrations between children with ASD and their unaffected siblings. However, within the ASD group, lower serum vitamin D levels were modestly but significantly associated with greater clinical severity (Spearman’s ρ = -0.432, p = 0.031).

Conclusions

In this Pakistani cohort, family history of neurodevelopmental conditions was the only sociodemographic factor associated with ASD severity. While vitamin B12 levels did not differ between groups, lower serum vitamin D concentrations were associated with more severe clinical presentations. These findings highlight the interplay between familial risk and nutritional status and underscore the need for larger, longitudinal studies to clarify the directionality and clinical significance of these associations in South Asian populations.