Papers to highlight

          Epileptic spasms in individuals with Down syndrome: A review of the current literature

           Kats et al. Epilepsia Open, 2020

This review of epileptic spasms in children with Down syndrome  aims to bring all of the available data into one place. The authors approximate that 1.8% (95% CI: 1.4%–2.3%) of all children with Down syndrome are diagnosed with epileptic spasms. While there is an expected developmental delay associated with Down syndrome, epileptic spasms cause a further delay, or even a regression if not treated quickly. Adrenocorticotropic hormone is the most effective treatment we have, but 20% of children do not respond to it. The authors currently do not have a thorough understanding of the mechanism of the spasms, so treatments are based on historical efficacy rather than specific biological targets. Unfortunately, to date, there are no known predictors of who will respond well to treatment, who will have the best (or worst) developmental outcomes, or who will go on to develop epilepsy.

For those interested in more details, you can read the full paper at


         Epileptic Spasms in Patients With Down Syndrome: Experiences From Caregivers

         Kats et al. Journal of Child Neurology,2020

        This study explores the experience of being a caregiver of someone with Down syndrome and epileptic spasms. Even though epileptic spasms are the most common type of seizure in infants with Down syndrome, many of   the patients in our clinic experienced delays in diagnosis, either because the symptoms were subtle or because their doctors did not begin evaluation in a timely manner. The authors also found that caregivers would like to have much more emotional and medical support from the medical staff, with one parent suggesting daily phone calls during the acute treatment phase of the spasms. Other suggestions were greater home medical assistance and referrals for the caregivers to see mental health professionals. The authors also found that autism spectrum disorder was present in the majority of their patients, which should encourage clinicians to screen for autism at routine visits. Overall, it is critical for pediatricians, especially primary care providers, to become familiar with epileptic spasms and the stress they place on caregivers.

         For those interested in more details, you can read the full paper at


Detection of iron deficiency in children with Down syndrome

Hart et al. Genetics in Medicine, 2020

The International Down Syndrome Patient Database is a consortium of Down syndrome specialty clinics around the globe that have been collecting prospective longitudinal data on our patients to answer many clinical questions for our population  This is the fourth publication to come from this group in recent years.  Each participating center can propose a topic of study, and the first authorship rotates to the group taking the lead.  Here is the summary from this recent paper:

    • Together, we collected data on 856 patients with Down syndrome within one year.
    • Iron deficiency precedes iron anemia, but we hypothesized that the current guidelines from the American Academy of Pediatrics would under-detect many of these cases.
    • Indeed, our group found that a better combination of blood tests could detect iron deficiency and anemia.
    • As a result, treatment with diet and iron supplements can be started sooner, as iron is known to be important for cognitive development, among other health conditions.

For those interested in more details, you can read the full paper at


Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Santoro et al. Genetics in Medicine, 2020

This study involved 7 Down syndrome specialty clinics around the globe (including Italy and Australia). From this collaboration, we found:

    • An unexplained regression is occurring in patients with Down syndrome, which is distinctive from autism and Alzheimer’s disease
    • Through this international consortium, 35 cases were pooled.  Symptoms and clinical work-up was analyzed and compared to asymptomatic control with Down syndrome.
    • The take home: our clinic consortium has a proposed definition of what constitutes this new regression entity.  The supplementary materials offer a scoring system.

Our own group in Massachusetts, the MGH Down Syndrome Program, is actively following about a dozen patients with this condition. Our international group continues to collect cases, and is now following up on management which does (or does not) improve symptoms for these patients.  Any interested sites can contact Dr. Stephanie Santoro at to learn how they can join the clinical group to share cases or ask questions.

For those interested in more details, you can read the full paper at