Research Finds Improved Seizure Management Could Boost Developmental Progress in Children with Angelman Syndrome
In a groundbreaking investigation, a team of researchers led by Luís A. N. Amaral have published a study in Frontiers in Psychiatry, titled "Epilepsy and Molecular Phenotype Affect the Neurodevelopment of Pediatric Angelman Syndrome Patients in China." This study is the largest cross-sectional analysis to date, using the Griffiths Mental Development Scale Chinese version (GMDS-C) to assess the development of children with Angelman syndrome.
The GMDS-C is a valuable tool for assessing the mental development of children from birth to 8 years, particularly those with developmental disorders. For this study, the GMDS-C assessment tool for children with Angelman syndrome consists of five main subscales: locomotor, personal-social interaction, hearing and language, eye-hand coordination, and performance. A sixth subscale, practical reasoning, is included for children ages 2 and older.
The research team, whose university is not explicitly named in the provided search results, conducted their investigation using major databases like Web of Science and PubMed. They collected data from 119 children with Angelman syndrome, 75 boys and 44 girls, with an average age of about 3.5 years.
The study found that seizures in children with Angelman syndrome may correlate with their intellectual development. Children who experienced seizures had significantly lower scores in the locomotor, personal-social, speech and language, and eye-hand coordination subscales compared to those who had been seizure-free. The median general quotient (GQ) for the Angelman children in the study was 29.6, indicating severe neurodevelopmental delay, as nearly all (99.2%) of the children had a GQ lower than 70.
Interestingly, no association was found between biological sex and GQ or DQ scores, but scores tended to be lower among older children with Angelman syndrome. 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 compared to children with other types of mutations.
The finding suggests that therapies focused on reducing the severity and frequency of seizures could be beneficial for the neurodevelopment of children with Angelman syndrome. This is a promising avenue for future research, as it could lead to improved outcomes for these children.
The study also marks a significant milestone, as it is the first to collect objective developmental data of Angelman syndrome patients in China. To the best of the researchers' knowledge, no studies have examined the neurodevelopment of children with Angelman syndrome objectively in China before this.
The neurodevelopment of patients with Angelman syndrome is often difficult to evaluate and compare due to severe intellectual disability and dispersion. However, this study provides valuable insights into the developmental progress of these children and could pave the way for more comprehensive research in the future.
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