Research Findings: Improved Seizure Management May Foster Growth in Children with Angelman Syndrome
In a pioneering study published in Frontiers in Psychiatry, researchers from China discovered a link between seizures and intellectual development in children with Angelman syndrome. The study, titled 'Epilepsy and Molecular Phenotype Influence the Neurodevelopment of Pediatric Angelman Syndrome Patients in China', is the first to gather objective developmental data on AS patients in the country.
The research involved 119 children with Angelman syndrome, with an average age of around 3.5 years. The study employed a standardized tool called the Griffiths Mental Development Scale Chinese version (GMDS-C) to measure developmental outcomes objectively. The GMDS-C assessment tool comprises five subscales: locomotor, personal-social interaction, hearing and language, eye-hand coordination, and performance. A sixth subscale, practical reasoning, is included for children aged 2 and older.
The study found that children who experienced seizures had significantly lower General Quotient (GQ) scores and lower Developmental Quotients (DQs) for the locomotor, personal-social, speech and language, and eye-hand coordination subscales. The median GQ for the Angelman children in the study was 29.6, indicating severe neurodevelopmental delay, as nearly all of the children (99.2%) had a GQ lower than 70.
Children with a deletion in chromosome 15, the most common form of Angelman-causing genetic mutation, had significantly lower GQ scores and lower DQs for three subscales: locomotor, personal-social, and performance. Notably, five participants in the study showed regression of developmental milestones following epileptic seizures, but their abilities improved after seizure control.
The researchers stressed the need for further research to fully understand the relationship between seizures and developmental delays in children with Angelman syndrome. They suggested that seizure control may benefit the development of children with Angelman syndrome. Therapies focused on reducing the severity and frequency of seizures could potentially enhance the neurodevelopment of children with Angelman syndrome.
The data from this study can serve as a baseline for clinical trials to evaluate drug development or other AS treatment development. The study highlights the substantial developmental delays in children with Angelman syndrome, emphasizing the need for continued research and appropriate care for these children.
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