Discrimination between hereditary spastic paraplegia and cerebral palsy based on gait analysis data: A machine learning approach.

BACKGROUND: There is no current consensus on how to differentiate between hereditary spastic paraplegia and spastic cerebral palsy on the basis of clinical presentation. Several previous studies have investigated differences in kinematic parameters obtained from clinical gait analysis. None have attempted to combine multiple gait and physical exam measures to discriminate between these two diagnoses. This study aims to investigate the ability of a machine learning approach using data from clinical gait analysis to differentiate these cohorts. METHODS: A retrospective analysis of a gait database compiled a dataset of 179 gait and physical exam variables from 28 individuals (62 analyses) diagnosed with hereditary spastic paraplegia and 678 (1504 analyses) with bilateral spastic cerebral palsy. This data was used in a Bayesian additive regression tree (BART) analysis classified by medical record diagnosis. A 10-fold cross validation generated probabilistic distribution that each analysis was from an individual carrying the hereditary spastic paraplegia diagnosis. A diagnostic probability cutoff threshold balanced type I and type II errors. Predicted versus actual diagnoses were classified into a contingency table. RESULTS: The algorithm was able to correctly classify the two diagnoses with 91% specificity and 90% sensitivity. CONCLUSIONS: A machine learning approach using data from clinical gait analysis was able to distinguish participants with hereditary spastic paraplegia from those with bilateral spastic cerebral palsy with high specificity and sensitivity. This algorithm can be used to assess if individuals seen for gait disorders who do not yet have a definitive diagnosis have characteristics associated with hereditary spastic paraplegia. The results of the model inform the decision to suggest genetic testing to either confirm or refute the diagnosis of hereditary spastic paraplegia.

Reducing Unnecessary Diagnostic Testing in Pediatric Syncope: A Quality Improvement Initiative.

Our aim was to reduce the frequency of unnecessary testing used by pediatric cardiologists in the evaluation of pediatric patients with syncope or pre-syncopal symptoms without negatively affecting patient outcomes. Guidelines for cardiac testing in pediatric patients with syncope were developed and disseminated to members of our pediatric cardiology division. Educational brochures and water bottles labeled with tips on preventing syncope were made available to families and providers in our clinics. Compliance to the guidelines was tracked and shared with providers. Segmented regression analysis was used to model cardiac testing utilization and guideline compliance by provider over time before and after the implementation of the guidelines. A pre-intervention cohort of 237 patients (June 2014-May 2015) was compared to 880 post-intervention patients (August 2015-June 2019). There was a significant decrease in the utilization of unnecessary tests [odds ratio (OR) 0.3; 95% confidence interval (CI) 0.14, 0.65; p = 0.002] after the intervention. Charges associated with patient evaluation were significantly lower in the post-intervention cohort (interquartile range $0, $1378 vs $0, $213; p = 0.005). Post-intervention visits to emergency departments within our system were significantly decreased, with no change in the incidence of cardiac arrest, hospitalization for syncope, or referral to pediatric electrophysiologists. We demonstrated a significant reduction in the use of unnecessary testing and associated charges by developing guidelines related to the evaluation of pediatric patients with syncope or pre-syncopal symptoms. There was no demonstrable negative impact on patient outcomes.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016.

Cornelia de Lange Syndrome (CdLS) is due to mutations in the genes for the structural and regulatory proteins that make up the cohesin complex, and is considered a cohesinopathy disorder or, more recently, a transcriptomopathy. New phenotypes have been recognized in this expanding field. There are multiple clinical issues facing individuals with all forms of CdLS, particularly in the neurodevelopmental system, but also gastrointestinal, cardiac, and musculoskeletal. Aspects of developmental and cell biology have found common endpoints in the biology of the cohesin complex, with improved understanding of the mechanisms, easier diagnostic tests, and the possibility of potential therapeutics, all major clinical implications for the individual with CdLS. The following abstracts are the presentations from the 7th Cornelia de Lange Syndrome Scientific and Educational Symposium, June 22-23, 2016, in Orlando, FL, in conjunction with the Cornelia de Lange Syndrome Foundation National Meeting. In addition to the scientific and clinical discussions, there were talks related to practical aspects of behavior including autism, transitions, communication, access to medical care, and databases. At the end of the symposium, a panel was held, which included several parents, affected individuals and genetic counselors, and discussed the greatest challenges in life and how this information can assist in guiding future research. The Research Committee of the CdLS Foundation organizes this meeting, reviews, and accepts abstracts, and subsequently disseminates the information to the families through members of the Clinical Advisory Board and publications. AMA CME credits were provided by Greater Baltimore Medical Center, Baltimore, MD.

Outcome and Cost of Inpatient Hospitalization for Intravenous Dihydroergotamine Treatment of Refractory Pediatric Headache.

BACKGROUND: To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS: We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroergotamine therapy for headache. Data were collected using the REDcap database and consisted of multiple variables, including preadmission demographics, headache duration, use of prophylactic medications, inpatient therapies including dihydroergotamine dosing, procedures, consultations, total hospital cost, and headache severity at discharge and at follow-up. RESULTS: Seventy-four percent of the 145 individuals who were hospitalized were female. Mean age was 14.9 years. Headache was described as chronic or daily in almost all patients and 28 (19%) had status migrainosus. Sixty-six percent had a first-degree relative with migraine. The average length of stay was 3.7 days, and the average cost was $7569 per hospitalization. Patients received an average of eight doses of dihydroergotamine. At the time of discharge, 63% of patients reported improvement. Follow-up information was available for 68% of the cohort at a median of 42 days after discharge, and 21 of 99 patients (21%) experienced sustained relief of headache. Response to dihydroergotamine was correlated with a lower rate of comorbid diagnoses, lumbar puncture, and outpatient neuroimaging. Response also correlated to less expensive hospitalizations with an average cost of $5379 per hospitalization versus $7105 per hospitalization without positive response. Response was also correlated with a patient receiving more doses of intravenous dihydroergotamine. CONCLUSIONS: Although intravenous dihydroergotamine is an effective abortive medication for intractable migraine, it may provide only short-term headache relief in many pediatric patients. Hospitalization is relatively costly with only modest long-term benefit, especially in patients with chronic migraine or chronic daily headache.

Educational Intervention Improves Compliance With AAN Guidelines for Return Epilepsy Visits: A Quality Improvement Project.

In 2011, the American Academy of Neurology (AAN) released guidelines for return seizure visits detailing 8 points that should be addressed during such visits. These guidelines are designed to improve routine follow-up care for epilepsy patients. The authors performed a quality improvement project aimed at increasing compliance with these guidelines after educating providers about them. The authors performed a chart review before and after an intervention which included: education regarding the guidelines, providing materials to remind providers of the guidelines, and templates to facilitate compliance. The authors reviewed charts at 2 and 6 months after the intervention. Significant improvement in documentation of 4 of the 8 measures was observed after this educational intervention. This suggests that simple educational interventions may help providers change practice and can improve compliance with new guidelines while requiring minimal time and resources to implement.

Mindfulness-Based Intervention for Adolescents with Recurrent Headaches: A Pilot Feasibility Study.

Recurrent headaches cause significant burden for adolescents and their families. Mindfulness-based interventions (MBIs) have been shown to reduce stress and alter the experience of pain, reduce pain burden, and improve quality of life. Research indicates that MBIs can benefit adults with chronic pain conditions including headaches. A pilot nonrandomized clinical trial was conducted with 20 adolescent females with recurrent headaches. Median class attendance was 7 of 8 total sessions; average class attendance was 6.10 ± 2.6. Adherence to home practice was good, with participants reporting an average of 4.69 (SD = 1.84) of 6 practices per week. Five participants dropped out for reasons not inherent to the group (e.g., extracurricular scheduling); no adverse events were reported. Parents reported improved quality of life and physical functioning for their child. Adolescent participants reported improved depression symptoms and improved ability to accept their pain rather than trying to control it. MBIs appear safe and feasible for adolescents with recurrent headaches. Although participants did not report decreased frequency or severity of headache following treatment, the treatment had a beneficial effect for depression, quality of life, and acceptance of pain and represents a promising adjunct treatment for adolescents with recurrent headaches.

Using clinical questions to structure the content of a web-based information resource for primary care physicians.

The Medical Home Portal is a web site aimed at supporting physicians and families in improving the care and outcomes for children with special health care needs (CSHCN) in the Medical Home model. To optimize access to its information and resources, the content has been structured using XML schemas that incorporate relevant clinical questions. This approach guides authors as they develop content and informs the organization of the site, aimed at assuring that users can readily locate needed information and resources. It will also enable direct access to relevant content via "infobuttons" or a questions-based interface, and extraction of content for use in electronic health records or other electronic media.