Autism spectrum disorder, commonly referred to as autism, is a neurodevelopmental disorder that affects how a person interacts with others, as well as how they learn, communicate and behave. This disorder’s symptoms usually appear in the first two years of an infant’s life and often present as repetitive behaviors and restricted interests.
A new study led by researchers at Yale has found a pair of neurodevelopmental abnormalities that may be associated with autism, with their differences being influenced by brain size. The researchers determined that these abnormalities arose just weeks after the brain started developing.
For their study, the researchers obtained stem cells from 13 boys who had been diagnosed with autism, including 8 who suffered from macrocephaly. Macrocephaly is a condition that affects the head circumference of a child, making it abnormally large. In autism, macrocephaly cases tend to be more serious, with roughly 20% of patients with autism also suffering from macrocephaly.
Patients in the study were recruited from the Yale’s Child Study Center. Once this was done, they developed brain organoids in laboratory dishes to help mimic neuronal growth in the fetus. This allowed them to observe different patterns in neural growth, which may help guide personalized diagnoses and treatments. This is in addition to seeing how the brains of these affected children developed when compared to their fathers.
The researchers discovered that kids with both macrocephaly and autism demonstrated uncontrolled growth of excitatory neurons in comparison to their fathers. This was different from organoids of kids with autism, because they exhibited a deficit of the excitatory neurons.
In their report, the researchers explained that the size of a child’s brain seemed to dictate these neurodevelopmental abnormalities. This, they noted, could help scientists and physicians diagnose and treat autism in the future. They added that being able to track the growth of certain neuron types could help physicians diagnose autism, as symptoms often present 18–24 months after birth.
Furthermore, these findings may help identify patients with autism who may benefit from medications designed to alleviate symptoms of disorders characterized by immoderate excitatory neuron activity. It is important to note that it is mainly patients with macrocephaly who may benefit from these medications.
The study’s co-senior author was Dr. Flora Vaccarino of the Department of Neuroscience, Yale University. The study was co-led by Jessica Mariani, Feinan Wu and Alexandre Jourdon, all from Vaccarino’s laboratory at the school of Medicine.
The researchers’ findings were reported in the “Nature Neuroscience” journal.
As more teams, such as the team at PaxMedica Inc. (OTC: PXMD), continue to work to break new ground in the way autism is currently treated, patients can look forward to a time when effective formulations will be widely available to deliver the clinical outcomes that they long for.
NOTE TO INVESTORS: The latest news and updates relating to PaxMedica Inc. (OTC: PXMD) are available in the company’s newsroom at https://ibn.fm/PXMD
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