All posts tagged: diagnosis

A Most Precious Word

As a mother, you long for the day your baby can utter those three beautiful words: “I love you.”

It makes the sleepless nights and endless diaper changes seem like distant memories to most typical-raising mothers.

My path is different — changing and twisting — the end not always imaginable or clear. Lilly’s autism diagnosis led me and my husband on a journey of shifting visions and expectations that had been ingrained in our heads from the moment that ultrasound technician wrote “baby girl!”

The good, the bad, the ugly; it all shifts. I was a hands-on auntie and remember so vividly hearing my precious nephew call out for my sister when I babysat him. I would rub my belly gently, anticipating the day my baby girl would call out to me just the same.

But as unexpected as a scattered, quick-moving rain storm on a clear day, I had never imagined or prepared myself that this might not happen. And it didn’t. As a baby, and then a toddler in her crib, not even in pain or distress… Forget the happy babbling and beginning sounds of “Mama, Dadda” echoing from the bedside monitor… I just wanted that feeling of my Lilly being able to call out to her Mommy in time of need. But it never came.

When Lilly started therapy, her team took a close-up picture of me to include in her lessons. Every day, they would show her a picture of me until she could finally say “Mommy” by identifying my photo.

It may seem unnatural, but this is our world. We need to teach her in a way that she can understand. I still have that first picture and it still makes me tear up when I find her playing with it.

photo (2)Two years ago, my wonderful and caring husband made me a “Happy A Mommy’s Day” card. For about a year, Lilly called me “a mommy.” To her, I was a mommy; it makes sense. I should have been grateful, but every piece of my heart wanted her to know that I was HER mommy…

Today, I hear her soft, angelic voice say my name multiple times a day and it is the sweetest song to my ears. She has her share of pain — from GI problems to seizures — and I am forever grateful to the countless hours and years spent by her therapists teaching her the tools to begin to communicate her needs and pain to us.

My favorite line occurs in her midday therapy at home. She will ask her therapist to “go see Mommy.” My heart melts every time and I remind myself to tuck those warm and prideful emotions deep in my heart: to cherish and remember always.

On my ever-changing path of being a mom to the mom of an Autism Angel, I have learned to savor those moments as daily comforts: reminders to live in the present and celebrate her moments of joy and peace, triumph and accomplishment. Because they’re there, even if Lilly’s not saying them like we had always expected to hear them.

I put no agenda or pretense on holidays; waking up on Mother’s Day, I plan on reading this to myself and smiling, because, for the most part, it will be just another day in our autism house… Filled with highs and lows, smiles and tears, but I will be grateful and reminded of the long road it took for my precious babe to utter her first “Mommy.” And, for me, that will always be enough.

— Michelle Steiner, recurring contributor


happymothersdayWhen you’re doing your Mother’s Day shopping this year, consider a gift that gives back to the autism community and acknowledges that you see the challenges and successes of your loved one every day. Purchase jewelry from the “I See You” collection and 20% of your purchase goes to programming at The Autism Research Foundation.

Have stories like Michelle and Lilly? Share them with our autism community to inspire others as we inspire you. Email hello@theautismresearchfoundation.org to get the conversation started today.


theautismresearchfoundationA Most Precious Word
read more

Hopes for an Autism-Detecting Blood Test

Researchers at the JC Self Research Institute of the Greenwood Genetic Center (GGC) have reported an exciting new finding that may allow for earlier diagnosis of individuals with autism spectrum disorders (ASDs), as well as a clearer understanding of the disorder.

Their study found that individuals with ASDs showed significantly decreased metabolism of the amino acid L-tryptophan when compared to normally developing persons, as well as individuals with other neurodevelopmental disorders. Decreased metabolism suggests there is a delay in the processing of this amino acid.

L-tryptophan is an amino acid used by cells to make protein. The body cannot produce L-tryptophan, therefore it must be obtained from the diet. Common sources include chicken, tuna, and turkey. This amino acid plays a significant role in brain development and function. L-tryptophan serves as a critical precursor for several critical neurochemical reactions in the body. For example, L- trpotophan stimulates the release and production of serotonin and melatonin. Abnormalities in the production of serotonin and melatonin have been linked to behavioral and neurodevelopmental problems (Sandyk, 1992).

Researchers also measured the expression of genes known to be involved in metabolizing L-tryptophan. Patients with autism expressed some of these genes at lower levels as well.

Currently, ASD diagnosis depends upon a variety of assessments, including developmental evaluation and parental interviews. The average age of diagnosis is 4.5 years of age, yet symptoms may appear as early as 18 months. No diagnostic blood tests exist to accurately diagnose ASDs.

AutismBloodTest_m_0429

Researchers at GGC are hopeful that their finding may lead to the development of an earlier blood-screening test for autism. A blood test that identifies low levels of L-tryptophan may allow doctors to identify metabolic deficits in the brain. In other words, the test would examine the gene’s expression in attempt to distinguish between children with and without ASDs.

SynapDx, a laboratory services company, is funding the study in hopes of developing and marketing the blood test. SynapDx completed a study in 2012 using an in-house developed blood test as a means of autism diagnosis. The study blindly compared 170 children with ASDs and 115 without. The blood test correctly identified the children two-thirds of the time. This trial’s success has led the company to continue conducting further studies in hopes of validating the development.

The release of a screening test could validate doctors’ clinical evaluations and diagnosis of ASDs. While a blood test may not offer sufficient evidence to diagnose ASD independently, it will certainly decrease the amount of time of needed to confirm a diagnosis. Using a clinically significant blood test in conjunction with patient evaluations will increase the validity and objective nature of a diagnosis.

An earlier diagnosis will allow for more effective and timely therapies for affected children and families. Speeding up the diagnostic process will grant families access to treatments earlier, allowing for better results. The National Institute of Health has granted additional funding to GGC’s autism research in hopes of turning this recent finding into a simple blood test for autism.

In addition, this information helps researchers to better understand a possible biochemical mechanism behind ASDs. These findings provide evidence that the disorder may be related to the metabolic pathways involving L-tryptophan. This finding allows will researchers to further focus on the exact point that the disruption is occurring.

Important discoveries such as these bring research organizations one step closer to improved ASD diagnosis and therapy. To read more about this study, click here.

Because clinical and neurobiological research is constantly advancing, staying up to speed with groundbreaking research can be extremely overwhelming for families. However, The Autism Research Foundation (TARF) believes staying informed is key to promoting awareness and a better understanding of autism. TARF hopes to assist you in keeping up with the latest research by updating this blog on a regular basis, as well as hosting the Current Trends in Autism Research Conference.

Citations:

Boccuto, Luigi, Chin-Fu Chen, Ayla Pittman, Cindy Skinner, Heather McCartney, Kelly Jones, Barry Bochner, Roger Stevenson, and Charles Schwartz. “Decreased Tryptophan Metabolism in Patients with Autism Spectrum Disorders.” Molecular Autism 16 (2013): 4-16.

Greenwood Genetic Center. Advancement Paves Way for Early Blood Test and Therapeutic OptionsGreenwood Genetics – GGC Reports Autism Discovery. 5 June 2013. Web.

Sandyk, R. “L-tryptophan in Neuropsychiatric Disorders: A Review.” International Journal of Neuroscience (1992): 127-44.

theautismresearchfoundationHopes for an Autism-Detecting Blood Test
read more

Gaze Shifting Testing for Earlier ASD Diagnosis

As mentioned in a previous blog post, the U.S. Department of Health and Human Services now estimates roughly 1 in 50 school-aged children are diagnosed with Autism Spectrum Disorder (ASD).  This estimated increase in ASD prevalence suggests that steps are being taken to improve diagnosis of the disorder. ASD is not generally diagnosed until after three years of age, yet a recent study published in the American Journal Psychiatry examined the possibility of diagnosing ASD in children as young as seven months old.

This study included fifty-seven “high-risk” infants with an older sibling diagnosed with ASD and forty “low-risk” infants with typically developing older siblings. The infants participated in the study at seven months old and returned for a clinical assessment after their second birthday. This assessment determined which of these children should be diagnosed with ASD. Knowledge of their diagnosis was then used to analyze the study’s data.

The study measured the brain activity and amount of time required for a seven month old infant to shift their gaze during a visual attention task. Researchers compared the eye movements and visual attention of infants later diagnosed with ASDs, to those of a typically developing infant of the same age.

To do so, researchers engaged infants in the Gap/Overlap Task. During the Gap Task, infants sat on their parent’s laps and watched images appear on a monitor. The first image appeared in the center of the screen, attracted the infant’s gaze, and then disappeared. A gap of time passed before a second image appeared on the edge of the screen. Advanced eye tracking equipment captured the infant’s eye movements. These measurements provided researchers with the exact timing of the shift in gaze.

The Overlap Task measured eye-movements as well, but also included a measure of brain activity. During this portion, the image remained in the center of the screen, while a second image appeared at the edge. Eye tracking equipment measured the time it took infants to shift their gaze to the peripheral image. Using functional Magnetic Resonance Imaging (fMRI), the researchers also measured the amount of processing occurring in different regions, in the infant’s brain to determine if there were patterns that distinguished the two groups.

Results showed a difference of 25 to 50 milliseconds on average between infants later diagnosed with ASD and their typically developing counterparts.  Researchers believe this delay can be accounted for by differences in the developing neurological circuits of a child’s brain. During this period of early infancy, the brain’s pathways for communication are forming quickly. These pathways influence how the infant interprets and responds to the environment.

Researchers identified the splenium of the corpus callosum as one such pathway that may be related to the difference in gaze shifting. This structure is an important neural connection between the brain’s left and right hemisphere. Results revealed a correlation between large splenium size and the speed with which infants shift their gaze. The ability of an infant to rapidly switch gazes improved with increased size of the splenium in typically developing infants.

However, researchers found no similar correlation in infants later diagnosed with ASD.

Although 25 milliseconds seems brief, this delayed reaction time implies a possible overall difference in the way the infant’s brain is developing. A small delay at this early stage may hint at larger differences in cognitive and social development. Thus, this attention shifting delay may well serve as a precursor to other well-known symptoms of autism. Such symptoms including difficulty making eye contact and coordinating gaze. Research consistently suggests an association between autism and deficits in pursuit eye movement. Further gaze testing research may allow professionals the opportunity to predict the development of these symptoms as opposed for waiting for them to occur.

By detecting neurological differences through research on subtle delays at the infant stage of development, researchers hope to improve ASD diagnosis at an earlier age. Earlier diagnosis will help parents to recognize their infant’s needs and begin working to help their child reach his or her full potential. These potential diagnostic tools such as fMRI might be useful longitudinally as well to chart an individual’s progress during early intervention therapies.

To read more about this study, check out the full article.

Citations:

NIH/National Institute of Child Health and Human D. “Gaze Shifting Delay Has Potential To Diagnose Autism At 7 Months.” Medical News Today. MediLexicon, Intl., 27 Mar. 2013. Web. <http://www.medicalnewstoday.com/releases/258189.php>

Takarae, Y., Minshew, N., Luna, B., Krisky, C. & Sweeney, J. Pursuit Eye Movement Deficits in Autism. Brain: A Journal of Neurology 127, 2584–2594 (2004).

theautismresearchfoundationGaze Shifting Testing for Earlier ASD Diagnosis
read more