First Signs of Autism Spectrum Disorder in an Individual with a Hypothalamic Hamartoma
I’ve written and shared my son Brett’s HH story, but his most recent diagnosis of autism spectrum disorder, given just a week before the age of two, is its own story. Before sharing the story of his diagnosis, you’d likely be intrigued by some details of my life before Brett came into it.
I first heard the word autism by a college classmate at the age of twenty. I was in my sophomore year of college studying psychology. This classmate was working at a specialized school for autistic children. I applied to work there and from that moment on, autism was my life. I worked as an instructional assistant in the school, as well as became a therapist and then a behavior specialist working in the home and community with families of autistic children. When I graduated from graduate school with a degree in Counseling Psychology and a Pennsylvania School Psychology Certificate, I slid into an opening for a school psychologist in Preschool Special Education. From there, I was to assess the needs of preschool children and determine the best educational category as well as how to meet those needs with the appropriate level of services, one of those educational categories being Autism. I was highly trained in various assessments of autism and joined a multidisciplinary team of professionals, including a developmental pediatrician from the Children’s Hospital of Philadelphia, to rule in or out a medical diagnosis of autism for children starting at age one. From 1998 until 2015, autism was my entire career and life. I loved it. I loved working with autistic children and their families. I loved special education.
In 2019, Brett was born and I retired to be home with him full time. At the age of 10 months, he began having infantile spasms and his hypothalamic hamartoma was discovered. So, what did these highly trained eyes see in Brett’s early development as it relates to autism? Well, nothing seemed to be related to autism before his diagnosis of HH at 10 months old. Medically, I also thought nothing about his gelastic seizures that he had on multiple occasions throughout the day. I completely overlooked that and like most parents and professionals, I thought that he was ‘fussing.’ With regards to autism, it was around 10 months old that I started to see characteristics. The first thing that I questioned his doctors about was his obsession with looking at ceiling fans, which had been observed since infancy. It was always considered age-appropriate, until it wasn’t at about a year old. At that time, Brett clearly engaged in what was referred to stereotypical behaviors, such as hand flapping and eye peering while obsessively looking at ceiling fans. The next characteristic that developed was inconsistency in responding to his name or an attempt to get his attention. When observing Brett, it was like he was overfocused on what he was doing and not able to multitask to shift his attention from the task at hand to the person attempting to interact. The confusion with this characteristic was that it wasn’t all of the time that Brett would not respond, it was just a lot of the time. And when he did respond, his eye contact was great and he engaged by returning smiles. The level of entertainment that it took to motivate Brett to engage in social interaction soon became apparently clear and he just wasn’t motivated as easily to participate in social interactions as someone his same age. For example, Brett was underwhelmed with nursery songs with gestures, like “Wheels on the Bus.” Speaking of gestures, that leads us to the next characteristic, Brett did not use gestures to support his communicative attempts. Brett appropriately raised his arms to be picked up around eight months old and never progressed past that. He did not clap, kiss or blow kisses, wave, or point. It was a big celebratory moment when Brett clapped at 19 months old (he still doesn’t blow kisses, wave or point at 2.5 years old), around the same time that he began to walk. This brings us to another early autism characteristic, delays in motor skills. One of the last, more obvious early characteristics was that Brett engaged in finger posturing as a means of self-stimulatory behavior. To describe this, my niece perfectly stated that, “He looks like he just got out of the nail salon and is highly impressed with his manicure.” Brett repetitively looked at the front and back of his hands. These early characteristics developed before and/or around his first birthday in October. His primary pediatrician and other specialists were all seeing the same thing and sought a developmental pediatrician to confirm the diagnosis by eighteen months old. It is important to note that the early characteristics that I list here do not include all of the characteristics that lead to Brett’s diagnosis (characteristics of autism do not remain the same over time…I’ll touch on this later in the series). These are just some of the very early observations that raised my eyebrow.
Much of Brett’s early signs of autism started right about the timing of his HH diagnosis. When observing his suspected autism characteristics, I did stop to ask myself, at times, “Is this neurological from the seizures? Or is this autism?” “But autism is a developmental neurological disorder, and not all people with seizures demonstrate behaviors consistent with autism.” Both autism and HH are spectrum disorders and naturally, there may be a great amount of overlap. For example, both autism and HH may result in symptoms of attention deficit hyperactivity disorder as a comorbidity (happening at the same time along with the main diagnosis). Both autism and HH may result in epilepsy as a comorbidity. Both autism and HH may result in intellectual impairment as a comorbidity and so on. So how do we weed out the symptoms and determine the true diagnosis?
Stay tuned for our next blog in this series: Differential Diagnosis for those with Hypothalamic Hamartoma Syndrome and autistic characteristics
Read more about Kristy and Brett: