Ehlers Danlos Syndromes Projects (EDS)

The CDC’s 2025 Community Report on Autism offers a detailed overview of autism spectrum disorder (ASD) among 4-year-old and 8-year-old children across various U.S. communities, based on data collected in 2022. The report provides insights into the prevalence and characteristics of ASD, helping inform public health strategies and support services nationwide.

A new report from the CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network reveals that the prevalence of autism spectrum disorder (ASD) differs significantly across communities in the United States. Experts attribute this variation to differences in how local communities identify and diagnose autism in children. The CDC emphasizes that communities can benefit from adopting effective identification practices used elsewhere, helping ensure that children receive timely diagnostic evaluations and support services.

This study highlights some challenges to providing care to students with chronic conditions like CHD. More collaborative relationships with specialists may be critical to ensuring that all the care needs of chronic disease students are met on college campuses.

We performed a systematic review assessing research related to genotype-phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.

Half of our sample were LTF and more than 45% had not received cardiology care in over 5 years. Of those who received care, only 1 in 3 saw an adult CHD physician at their last encounter. Not knowing they needed to see a cardiologist, being told they no longer needed cardiology care, and feeling "well" were the top reasons for LTF, and only half of respondents report doctors discussing the need for cardiac follow-up.

Adults with CHD who require ECMO have longer hospitalizations and more complications than adults without CHD who require ECMO. ECMO for adults with CHD appears related to surgical admissions, compared to ECMO for adults without CHD, which appears related to acquired diseases. These data highlight the implications of ECMO for adults with CHD and their potential perioperative fragility.

Individuals with dystrophinopathies have heterogenous clinical presentations that cluster into phenotypically similar groups. Use of clinically-derived phenotyping may provide a clearer understanding of disease trajectories, reduce variability in study results, and prevent exclusion of certain cohorts from analysis. Findings from studying subphenotypes may ultimately improve our ability to predict disease progression.

Age- and sex-based exercise performance for adolescents with Fontan physiology are predictably low, but there are additional significant decreases through adolescence for this population, especially in females. We have established normative exercise values for several parameters for this population which will better identify at risk patients and allow for earlier intervention.

Children and adolescents with moderate or severe CHD and NPD who undergo cardiac surgery incur longer hospital stays and higher charges. Recognizing and addressing the underlying NPDs may be important to improve postoperative progression for children and adolescents with CHD hospitalized for cardiac surgery.