July 23, 2025

New Insights into Genetically Caused Developmental Delays

21 minutes

Emerging observations from our work at n-Lorem suggest that not all developmental delays are permanent. In the absence of structural damage—such as microcephaly, congenital deformities of the skull or bones, or organ malformations—there appears to be potential for improvement in movement disorders, cognition, autistic features, and more. These insights point to a level of resilience and plasticity in the central nervous system that may be greater than previously believed, and they are beginning to reshape how the scientific community understands the brain.

On This Episode We Discuss:

2:12 The idea that a missed or delayed developmental step can lead to permanent deficits might not be true

3:30 Observations that support the conclusions that developmental deficits aren't permanent unless they cause structural damage, like microcephaly, bone or skull deformities, or organ malformation

5:55 ASO treatment can dramatically enhance muscle strength

7:54 Abnormal movements and the inability to control movement

11:30 The damage seizures cause lead to further developmental delays

12:46 We’ve observed improvement in those with ataxia, or dizziness

14:25 Improved cognition observed in patients with various mutations, genes, and forms of intellectual disability

15:00 Recovery of speech and improvements in autistic features, such as intellectual disability, and other associated manifestations

16:10 Severe neuropathic pain makes development difficult, and reduction in pain has been observed

16:40 Ongoing issues with autonomic nervous system control—including blood pressure, heart rate, breathing, light response, and digestive and urinary function—are debilitating and make normal development nearly impossible

18:00 The implications of these observations are transforming the scientific community’s understanding of the brain and central nervous system

Links:

2025 Nano-rare Patient Colloquium Agenda and Registration - https://www.nlorem.org/nano-rare-patient-colloquium-2025/

Donate to n-Lorem - https://www.nlorem.org/donate/

Hongene Biotech - https://hongene.com/

...more

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By n-Lorem Foundation (Dr. Stan Crooke, Amy Williford, Kim Butler, Andrew Serrano, Jon Magnuson, and Kira Dineen)

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