Male, age 4, with autism, delayed speech and development, gap between larynx and esophagus (laryngeal cleft), and low muscle tone (hypotonia)
Dec 01, 2023
The participant was born at 38 weeks by C-section. The pregnancy was complicated by vaginal bleeding at 6-8 weeks and gestational diabetes. At birth he needed supplemental oxygen for a couple days because his of low oxygen and vomiting while nursing (emesis). At 6 days old, he had jaundice which was treated with exposure to the sun.
At 5 months of age, the participant was noted to have a flat spot on his head (plagiocephaly), which was treated with physical therapy. His head was also stuck twisted to one side (torticollis), which was treated with physical therapy. One month later, he experienced something similar to a seizure (seizure-like event). At 8 months of age, it was determined that he has a brain difference (cavum septum pellucidum). At 10 months, he was diagnosed with eye differences (superior oblique palsy and stigmatism).
At 15 months old, the participant had ear tubes placed. He was also found to have a split uvula (bifid uvula) and skull differences that do not require surgery (metopic ridge and partial closure of the sagittal suture). At 22 months old, he developed some behavioral differences such as biting and chewing his hands and fingers. His appetite also decreased. Two months later, he was diagnosed with having sensory processing disorder. At 3 years old, the participant was diagnosed with autism, as well as speech and developmental delay. More recently, he was diagnosed with dysphasia and has begun dysphasia therapy.
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!
