Sep 09, 2021
The participant was born after a pregnancy complicated by insulin-controlled gestational diabetes, reduced fetal movement, and polyhydramnios. Soon after birth, she was noted to have low muscle tone (hypotonia) and dysmorphic features. She struggled with feeding from birth and was notably irritable as a baby.
At 5 months old, she began having infantile spasms and continued to have periods of significant regression associated with increased seizure frequency throughout her childhood. By 3-4 years old, she was having hundreds of seizures per day and began to lose her previously attained developmental milestones. Since attaining improved seizure control, she has made some developmental gains.
The participant continues to have severe global developmental delay. She has developed some receptive language skills but has always been non-verbal and non-ambulatory. She smiles and laughs and enjoys listening to music to calm down.
Clinicians and researchers have identified the following de novo genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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