Nov 30, 2023
The participant was born full term after an uncomplicated pregnancy and birth. Prenatal ultrasounds had raised suspicion of Down syndrome but he was ultimately not diagnosed.
At 2 months the participant began to experience difficulty breathing (obstructive and central apnea) and required supplemental oxygen. He underwent surgery to remove his tonsils and adenoids at 3 years old. This allowed him to stop supplemental oxygen and the problem has since been resolved.
At 3 years old the participant was delayed in language skills. He participant was diagnosed with ADHD at 6 years old and began medication (patch form of methylphenidate). He started having anxiety and was switched to Adderall for the following 4 years. He received a diagnosis of Autism at 9 years old. He began experiencing hallucinations at 10 years old and switched to Vyvanse for three years, however it was only effective for two hours a day. He started taking clonidine for sleeping. At 13 he started taking fluoxetine.
At 13 he started experiencing muscle twitching in the arms and face with saliva build up. His mother reports that he has an uncontrollable buildup of saliva that causes him to spit frequently. His mother reports that his saliva smells badly. He describes the muscle twitching as uncomfortable, and they have awoken him from sleep. These movements occur daily and continued after all medications were stopped.
The participant utilizes special education services for his developmental delay.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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