April 17, 2023
- After her daughter suffered two seizures and was diagnosed with epilepsy, global developmental delays, and autism, physician parent Deborah Ondrasik requested whole exome sequencing for her toddler. The test revealed that her daughter had a mutation on her CACNA1A gene, which is linked to multiple neurological disorders, including developmental delay, cognitive impairment, autism, speech and language disorder, epilepsy, balance and coordination difficulties, migraines, and eye movement disorders. Once Deborah’s daughter received an accurate genetic diagnosis, the little girl received intensive therapy that helped her communicate for the first time. Deborah also found doctors willing to pursue off-label treatments that have assisted in controlling her daughter’s seizures. Deborah is now urging the American Academy of Pediatrics (AAP) to develop new guidelines recommending whole exome/genome sequencing as first or second-tier tests for pediatric patients with congenital anomalies, developmental delay, or intellectual disability.
- A new study designed to assess the safety and efficacy of Bumetanide as a treatment for autism spectrum disorder (ASD) has found that the diuretic improved core symptoms of ASD. The double-blind, randomized, and controlled trial included two groups. For six months, group 1 received Bumetanide, while group 2 received a placebo. At the end of the trial, group 1 showed improved ASD symptoms within a short time with minimal and tolerable adverse effects.
- The Chrysler Corporation unveiled its “Calm Cabin” package for their Pacifica minivan at the New York International Auto Show earlier this month. The new package intends to make car rides a calmer experience for children with autism. The package includes a seat-back organizer with room for a tablet and more, a meditative light, a sound therapy machine, a seat belt sleeve with a velvet feel, a travel pillow, and a weighted sensory blanket. The Autism Society of America collaborated with Chrysler to develop this sensory-friendly package.
- As part of their Autism Science Month, the Autism Research Institute (ARI) is hosting Gut-Brain Week on its website. The link features articles and webinars providing information on current research and theories explaining the interplay of gastrointestinal conditions and autism. Also included are suggestions for supporting a healthy gut.
- Eden Autism Services will hold an in-person and virtual lecture titled “Adolescents with Autism and the Transition to Adulthood.” Autism service leaders will provide talks on medical, employment, and quality-of-life issues for young adults on the spectrum. The event will be held on Thursday, April 27, 2023, 9 a.m. – 3 p.m. EDT. The lecture costs $100 in-person and $50 virtual.
