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Advanced Neurology Genetics of neurodevelopmental disorders in Mexico

NDDs overall. These figures particularly apply when Such studies are instrumental in determining
comprehensive exome sequencing is employed. 30 inheritance patterns, assessing the risk of recurrence, and
In this study, we reported a high diagnostic yield, personalizing treatments. They also facilitate the correlation
although the sample size was small. Despite recent of the functionality of VUS with clinical manifestations and
revisions to the DSM and the World Health Organization’s molecular study outcomes. Thus, advancing our molecular,
International Classification of Diseases that aim to genetic, and biological understanding of NDDs represents
standardize the classification of NDDs, questions remain a crucial step toward transforming the current model into
regarding the clinical and biological distinctiveness of a multidimensional, biologically informed framework for
these disorders. This is due to diagnostic overlap and a the prevention and management of NDDs.
high incidence of co-occurring disorders. Consequently, 5. Conclusion
the cases included in this study are notably heterogeneous.
Furthermore, dysfunction in one area is accompanied by This study underscores the complex underpinnings of
impairments in others, resulting in multiple diagnoses. genetic factors in the etiology of NDDs and highlights the
The heterogeneity can also be explained with the same indispensable role of comprehensive genetic evaluation
underlying mechanism leading to various patterns of in the diagnosis and management of these conditions.
functional limitations, which justifies the presence of both Through the detailed examination of developmental
motor impairments and NDDs in certain patients. disabilities within the diverse population of the Mexican
state of Jalisco, we have studied not only the prevalence and
The genetic panels that are carefully selected based on
clinical-genetic data, electrophysiological findings, and unique characteristics of various NDDs but also the pivotal
neuroimaging results can aid in etiology identification contributions of genetic diagnostics in understanding
and characterization of the prevalent mutations and these disorders. Our findings advocate integrating genetic
susceptibilities within a population. This enables the testing into standard diagnostic protocols for NDDs,
tailoring and enhancement of preventive programs targeted which promises to enhance clinical outcomes through
at specific genes and conditions that are predominantly more personalized and precise therapeutic interventions.
carried by this group. In this study, the findings suggest a Moreover, our research emphasizes the need for continued
correlation with conditions such as muscular dystrophies, exploration into the genetic basis of NDDs, aiming to
BTD, defects in the beta-oxidation of short-chain improve prognostic predictions, inform treatment strategies,
fatty acids, glycosylation disorders, and mitochondrial and support family planning decisions. Ultimately, the
disorders, including those related to energy deficits and advancement of genetic and genomic research, combined
cofactors such as coenzyme Q10. with a multidisciplinary approach to care, holds the key
to unlocking better futures for individuals with NDDs
While deducing correlations between genetic causes and their families, reinforcing the value of genetics in the
of NDDs based on the presence of novel mutations in vanguard of neurodevelopmental medicine.
this population is feasible, it is not possible to establish
definitive associations between these genetic factors and Acknowledgments
neurodevelopmental diseases without performing further
studies. To do so, a different study design that considers the We want to extend our heartfelt gratitude to Teresa Hernández
VUS detected in specific cases and the role of epigenetic López (Tita), Johanna Mariela Mora Robles, Mariana Fonseca
factors is required. de La Torre, and Iveth de la Torre. Their enthusiasm and
dedication to calling us to this noble task of serving these
The analysis of relatives is crucial to determine whether at-risk populations in their homeland have been invaluable.
variants are inherited or de novo, significantly enhancing Our work has been greatly enriched by their contributions.
the interpretative value of genetic studies. Therefore, the
most critical role of the clinical geneticist lies in selecting Funding
the appropriate genetic tests and correlating the genetic None.
variants with clinical observations and the reported
segregation patterns for each case. In this study, NGS was Conflict of interest
31
selected as the testing panel, providing highly insightful
results regarding the clinical symptoms of patients with The authors declare that they have no competing interests.
NDDs and their relatives. This approach will not only Author contributions
shed light on causality by detecting variants or mutations
potentially related to the disease but also aid in predicting Conceptualization: Norma Elena de León-Ojeda, Adonis
genomic disorders. Estévez-Perera

Volume 3 Issue 2 (2024) 11 doi: 10.36922/an.3359