Journal of Neurology and Neurorehabilitation Research

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Opinion Article - Journal of Neurology and Neurorehabilitation Research (2024) Volume 9, Issue 6

Genetics and Neurodevelopment: Insights into Paediatric Neurological Disorders

Benoit Gill *

Newborn Screening Department, Institute of Child Health, Greece

*Corresponding Author:
Benoit Gill
Newborn Screening Department, Institute of Child Health, Greece
E-mail: bgill@chi.gr.co

Received: 23-Oct-2024, Manuscript No. JNNR-24-155319; Editor assigned: 24-Oct-2024, PreQC No. JNNR-24-155319(PQ); Reviewed: 07-Nov-2024, QC No. JNNR-24-155319; Revised: 13-Nov-2024, Manuscript No. JNNR-24-155319(R); Published: 20-Nov-2024, DOI: 10.35841/aajnnr-9.6.235

Citation: : Gill B. Genetics and neurodevelopment: Insights into paediatric neurological disorders. J Neurol Neurorehab Res.2024;9(6):235

Introduction

Genetics plays a crucial role in neurodevelopment, significantly influencing the onset, progression, and severity of pediatric neurological disorders [1]. Over the past few decades, advancements in genetic research have provided invaluable insights into the underlying mechanisms of conditions such as autism spectrum disorders, intellectual disabilities, and neurodegenerative diseases. These insights are shaping new approaches to diagnosis, treatment, and prevention in pediatric neurology [2].

One of the key areas where genetics has transformed pediatric neurology is in the identification of genetic mutations associated with various neurological conditions [3]. For example, research has revealed that certain mutations in genes like MECP2 and FMR1 contribute to disorders such as Rett syndrome and fragile X syndrome [4]. These discoveries have enabled earlier and more accurate diagnoses, allowing for better-targeted interventions and the potential for gene-based therapies [5]. In conditions like neurofibromatosis, where the NF1 gene mutation leads to a variety of neurological symptoms, genetic testing is now a standard tool for diagnosis and management [6].

Moreover, the study of neurodevelopmental genetics has shed light on the complex processes that govern brain development during infancy and childhood [7]. Research has shown that disruptions in key genes involved in neuronal growth, synapse formation, and brain plasticity can lead to developmental delays, learning disabilities, and cognitive impairments. By understanding these genetic pathways, clinicians can better predict the trajectory of a child’s condition and tailor interventions accordingly [8].

With the growing availability of genetic testing, clinicians can now identify the specific genetic causes of a child’s neurological condition, paving the way for precision medicine [9]. Targeted therapies aimed at correcting or compensating for these genetic defects are still in their early stages but offer the potential to significantly improve outcomes for children with previously untreatable conditions [10].

Conclusion

As genetic research continues to evolve, the integration of genomic data into clinical practice promises to revolutionize the diagnosis and management of pediatric neurological disorders, offering hope for more effective treatments and better long-term outcomes.

References

  1. Kiser DP, Rivero O, Lesch KP. Annual research review: the (epi) genetics of neurodevelopmental disorders in the era of whole?genome sequencing–unveiling the dark matter. J Child Psychol Psychiatry. 2015;56(3):278-95.

    2. Indexed at, Google Scholar, Cross Ref

  2. Birnbaum R, Weinberger DR. Genetic insights into the neurodevelopmental origins of schizophrenia. Nat Rev Neurosci. 2017;18(12):727-40.

    3. Indexed at, Google Scholar, Cross Ref

  3. Bishop D, Rutter M. Neurodevelopmental disorders: conceptual issues. Rutter's CACAP. 2008:32-41.

    4. Google Scholar

  4. Arnold SE. Neurodevelopmental abnormalities in schizophrenia: insights from neuropathology. Dev Psychopathol. 1999 Sep;11(3):439-56.

    5. Indexed at, Google Scholar, Cross Ref

  5. Blumcke I, Budday S, Poduri A, et al. Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours. Lancet Neurol. 2021;20(11):943-55.

    6. Indexed at, Google Scholar, Cross Ref

  6. Cicchetti D. How a child builds a brain: Insights from normality and psychopathology. Child Psychol. 2014:23-71.

    7. Google Scholar

  7. Amato ME, Darling A, Stovickova L, et al. Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice. Eur J Paediatr Neurol. 2024;52:10-9.

    8. Indexed at, Google Scholar, Cross Ref

  8. Zamanpoor M. Schizophrenia in a genomic era: a review from the pathogenesis, genetic and environmental etiology to diagnosis and treatment insights. Psychiatr Genet. 2020;30(1):1-9.

    9. Indexed at, Google Scholar, Cross Ref

  9. Raine A. Schizotypal personality: neurodevelopmental and psychosocial trajectories. Annu Rev Clin Psychol. 2006;2(1):291-326.

    10. Indexed at, Google Scholar, Cross Ref

  10. Muthusamy K, Perez-Ortiz JM, Ligezka AN, et al. Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions. Genet Med. 2024;26(2):101027.

    11. Indexed at, Google Scholar, Cross Ref

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