A new study from UCLA Health shows that puberty can reshape brain connectivity in children with chromosome 22q11.2 deletion syndrome, a rare genetic condition. The changes may help explain why these children have a higher risk of neuropsychiatric conditions such as autism and schizophrenia. The researchers published their findings in Science Advances, offering fresh insight into the biology behind these disorders and potential avenues for future interventions.
Chromosome 22q11.2 deletion syndrome arises from missing DNA on chromosome 22 and is linked to increased risks for autism and schizophrenia. Researchers from UCLA and the Italian Institute of Technology used functional brain imaging in both humans and genetically modified mice to explore how this genetic anomaly affects brain development. They found that networks involved in social processing were overconnected before puberty and became underconnected after puberty, with synaptic activity playing a central role in these changes.
Professor Carrie Bearden of UCLA notes that patterns of functional connectivity seen on MRI scans are a common thread in many psychiatric disorders, though their origins remain unclear. By comparing synapse-level changes across species, the study explains how these shifts might drive social behavior changes seen in autism.
In the animal model, mice engineered to mirror the syndrome showed a higher density of dendritic spines—structures essential for neuron communication—before puberty, followed by a sharp decline after puberty. This pattern aligns with the observed connectivity changes and suggests a mechanism for altered brain networks.
A key molecule in this process is GSK3-beta, which regulates synapse activity. When researchers used a drug to inhibit GSK3-beta, brain activity briefly returned to baseline and dendritic spine density increased in the mice. The affected brain regions also contained enriched genes related to GSK3-beta, linking these genetic components to social behaviors and autism traits seen in humans with the syndrome.
The findings carry implications for Thailand, where awareness and healthcare resources for neurodevelopmental disorders are growing. Understanding synaptic dysfunction offers a potential target for interventions aimed at reducing symptoms or slowing progression of chromosome 22q11.2 deletion syndrome. This aligns with global efforts to better understand autism and could inspire similar studies within Thailand, ultimately guiding therapies for Thai children and families.
As Thailand expands its healthcare system to address genetic and neuropsychiatric conditions, the study highlights the importance of early diagnosis and targeted therapies that consider both genetics and environment. Policymakers, healthcare providers, and educators should work together to ensure accessible support for all families. Looking ahead, specialized programs and curricula that address the educational needs of children with such syndromes will be essential.
For Thai parents and clinicians, careful monitoring of developmental milestones and comprehensive assessments at signs of atypical progress can make a meaningful difference. Engaging with community support networks and staying informed about ongoing research empowers families to advocate effectively for the children in their care. As scientists deepen their understanding, targeted treatments may become more feasible, offering improved quality of life for those with 22q11.2 deletion syndrome.