As scientists and doctors continue to increase our collective understanding of human development, Imagine Pediatric Therapy knows that treating developmental delays can’t rely on a one-size-fits-all approach.
For instance, our therapists understand that children diagnosed with Autism Spectrum Disorder (ASD) will experience different kinds of developmental delays and challenges, requiring different therapeutic plans.
Researchers still haven’t identified a clear set of causes for ASD, but for an estimated 1% of ASD diagnoses, the issue can be traced back to a chromosomal disorder. More specifically, for a small population of people with ASD, the disorder can be linked to a disease called Phelan McDermid Syndrome (PMS).
Sometimes classified as an “orphan” or “unicorn” disease because it is exceedingly rare, PMS impacts somewhere between 2 and 5 children out of every 1 million births. Children with PMS tend to show symptoms very early, including low muscle tone, minor dysmorphic facial features, delayed motor and speech development, and in many cases, ASD.
Advances in genetic testing mean it’s now relatively easy to test for PMS when the syndrome is suspected. A laboratory test can check for a deletion in part of the 22nd pair of chromosomes or potential deletions in SHANK3, a gene central to cell-to-cell communication. The gene deletion can happen spontaneously or be inherited.
Because PMS is so rare – there are only around 2500 cases diagnosed worldwide – the disease doesn’t get the attention and research that drives treatment and therapy for other challenges. However, because of the link between PMS and ASD, advances in ASD research can be leveraged to inform PMS treatment. Recent research published in Nature shows that the relationship between PMS and ASD has offered key insights into how therapies developed for treating speech delay in ASD patients might provide improved outcomes for PMS patients.
PMS cannot be cured. However, because these and other unicorn disorder symptoms are also symptoms of more common developmental disorders, Imagine Pediatric Therapy can help. With the proper treatment and therapy plan, symptoms can be relieved and quality of life can be improved.
Muscle weakness that can impact a child’s ability to feed/eat as well as to meet developmental milestones. As with other disorders, kids with PMS typically have some motor development impairment and varying levels of speech impairment, from delayed to almost non-existent. These children also have an increased incidence of epilepsy and decreased levels of perspiration and a lower perception of pain, so they need to be monitored for seizures, temperature, and injury more closely.
For the most commonplace challenges and the rarest of disorders, Imagine Pediatric Therapy’s physical, occupational, and speech therapists will conduct a thorough evaluation and then assemble a plan of treatments and therapies will target particular symptoms, minimize complications and maximize your child’s skills to succeed.
When your child is diagnosed with a developmental disorder, contact us. Your Imagine Pediatrics Therapy team will help manage symptoms and address the various challenges presented by the disorder.
