Assessment of autonomic symptom scales in patients with neurodevelopmental diagnoses using electronic health record data.

Background: Sleep disturbances, gastrointestinal problems, and atypical heart rate are commonly observed in patients with autism spectrum disorder (ASD) and may relate to underlying function of the autonomic nervous system (ANS). The overall objective of the current study was to quantitatively characterize features of ANS function using symptom scales and available electronic health record (EHR) data in a clinically and genetically characterized pediatric cohort. Methods: We assessed features of ANS function via chart review of patient records adapted from items drawn from a clinical research questionnaire of autonomic symptoms. This procedure coded for the presence and/or absence of targeted symptoms and was completed in 3 groups of patients, including patients with a clinical neurodevelopmental diagnosis and identified genetic etiology (NPD, n=244), those with an ASD diagnosis with no known genetic cause (ASD, n=159), and age and sex matched controls (MC, n=213). Symptoms were assessed across four main categories: (1) Mood, Behavior, and Emotion; (2) Secretomotor, Sensory Integration; (3) Urinary, Gastrointestinal, and Digestion; and (4) Circulation, Thermoregulation, Circadian function, and Sleep/Wake cycles. Results: Chart review scores indicate an increased rate of autonomic symptoms across all four sections in our NPD group as compared to scores with ASD and/or MC. Additionally, we note several significant relationships between individual differences in autonomic symptoms and quantitative ASD traits. Conclusion: These results highlight EHR review as a potentially useful method for quantifying variance in symptoms adapted from a questionnaire or survey. Further, using this method indicates that autonomic features are more prevalent in children with genetic disorders conferring risk for ASD and other neurodevelopmental diagnoses.

A Comparison of Global Brain Volumetrics Obtained from CT versus MRI Using 2 Publicly Available Software Packages.

BACKGROUND AND PURPOSE: Brain volumetrics have historically been obtained from MR imaging data. However, advances in CT, along with refined publicly available software packages, may support tissue-level segmentations of clinical CT images. Here, brain volumetrics obtained by applying two publicly available software packages to paired CT-MR data are compared. MATERIALS AND METHODS: In a group of patients (n = 69; 35 men) who underwent both MR imaging and CT brain scans within 12 months of one another, brain tissue was segmented into WM, GM, and CSF compartments using 2 publicly available software packages: Statistical Parametric Mapping and FMRIB Software Library. A subset of patients with repeat imaging sessions was used to assess the repeatability of each segmentation. Regression analysis and Bland-Altman limits of agreement were used to determine the level of agreement between segmented volumes. RESULTS: Regression analysis showed good agreement between volumes derived from MR images versus those from CT. The correlation coefficients between the 2 methods were 0.93 and 0.98 for Statistical Parametric Mapping and FMRIB Software Library, respectively. Differences between global volumes were significant (P < .05) for all volumes compared within a given segmentation pipeline. WM bias was 36% (SD, 38%) and 18% (SD, 18%) for Statistical Parametric Mapping and FMRIB Software Library, respectively, and 10% (SD, 30%) and 6% (SD, 20%) for GM (bias ± limits of agreement), with CT overestimating WM and underestimating GM compared with MR imaging. Repeatability was good for all segmentations, with coefficients of variation of <10% for all volumes. CONCLUSIONS: The repeatability of CT segmentations using publicly available software is good, with good correlation with MR imaging. With careful study design and acknowledgment of measurement biases, CT may be a viable alternative to MR imaging in certain settings.

Habitual snoring, OSA and craniofacial modification. Orthodontic clinical and diagnostic aspects in a case control study.

BACKGROUND: This research aims to analized the clinical and diagnostic aspects of OSA in the orthodontic research field. METHODS: Through a case control study, the presence of early craniofacial modifications in a study group constituted of 13 children with long history of habitual snoring and obstructive sleep apnea syndrome (mean age 54 months, range 36-103) and in a control group constituted of 13 children with no history of snoring (mean age 60 months, range 55-67), is analyzed. Clinical neurological and orthodontic examination, cefalometrics analysis and MESAM 4 has been performed to each single child. RESULTS: Neurological clinical examination and diurnal polysomnography or nocturnal ambulatory monitoring of snoring (MESAM 4) showed that this pathology started very early in the childhood: snoring onset was 22.7 months, the apnea onset was 34.7 months. Moreover 23% of the children showed a failure to thrive. The cephalometric results revealed that OSA children showed different cranio-facial features: a maxillo-mandibular micrognathia and or retrognathia, an increment of divergency associated with an increase in the vertical development of the face and a reduced perviety of the upper airway space caused by a mechanical obstruction due to enlarged adenoids. The orthodontic clinical examination revealed that OSA patients showed posterior cross-bite, anterior open-bite and lip-incompetence. CONCLUSIONS: These results suggest that oral breathing, that is present in sleep apnea patients, is responsible of different cranio-facial anomalies. For this reason these features must be recognized, as soon as possible, in order to start an early treatment of this pathology.

Nonsustained ventricular tachycardia as a predictor for sudden death in patients with idiopathic dilated cardiomyopathy. The role of amiodarone treatment.

BACKGROUND: Sudden death frequently occurs in patients with idiopathic dilated cardiomyopathy. Ventricular arrhythmias are encountered in almost all cases. The prognostic significance of life-threatening arrhythmias such as successfully resuscitated ventricular fibrillation and sustained ventricular tachycardia is well known, while it is controversial for ventricular arrhythmias of a lower degree. Amiodarone has been used widely in these patients but its value in preventing sudden death is still uncertain. The aim of this study was to evaluate the prognostic significance of runs of nonsustained ventricular tachycardia (NSVT) as a hallmark for sudden death and the efficacy of amiodarone in preventing sudden death and reducing overall mortality in a large series of patients with dilated cardiomyopathy. METHODS: Over the period between 1983 and 1994, a series of 151 consecutive patients with idiopathic dilated cardiomyopathy underwent ambulatory electrocardiographic monitoring for a mean period of 191 hours/patient. Seventy-nine patients (56 male, mean age 50.7 +/- 13.1 years) (group A) had ventricular arrhythmias of Lown class < or = 4A, while 72 (53 male, mean age 48.6 +/- 12.8 years) (group B) had one or more NSVT runs. The two groups were well matched in terms of clinical features. Mean follow-up period was 86.8 +/- 38.7 and 74.7 +/- 39.5 months, respectively. In group A no antiarrhythmic drug was administered, while in group B 54/72 patients were treated with amiodarone (mean dosage 300 mg/day) for a mean period of 69.7 +/- 37.8 months (group B1). The remaining 18 patients received class I antiarrhythmic drugs, mexiletine (12) and propaphenone (6) for a mean period of 46.1 +/- 29.4 months, because amiodarone was contraindicated (3) or serious side-effects occurred during amiodarone treatment (15), which was discontinued after a mean period of 3.8 +/- 3.1 months (group B2). RESULTS: The cumulative survival probability in the whole population was 86.6% at two years and 65.6% at five years. The rate of sudden death was 6.0% at two years and 18.3% at five years. No statistically significant difference was observed in terms of all-cause mortality or sudden death in the three groups (A, B1, B2). In group B1, amiodarone determined the disappearance of NSVT at Holter monitoring in 50% of patients (27), with no significant difference in the rate of sudden death between the two subgroups. CONCLUSIONS: In unselected patients with idiopathic dilated cardiomyopathy, cardiovascular mortality does not differ between those with NSVT on chronic amiodarone treatment and those without NSVT who have not undergone antiarrhythmic therapy. There was a trend towards a higher overall and sudden mortality rate in patients with NSVT treated with other antiarrhythmic drugs vs patients with NSVT treated with amiodarone, but due to the small size of the first group no significant difference could be calculated. Assuming NSVT as a potential prognostic marker for sudden death, amiodarone treatment may have exerted a beneficial effect in these patients, but this statement is only a presumption due to the limitations of our study. The disappearance of NSVT during amiodarone treatment is not predictive of a reduced rate in sudden death, so that the potential effect of the drug does not appear to be related to the suppression of NSVT at Holter monitoring.

[Oral anticoagulant therapy in dilated cardiomyopathy. Warfarin treatment results in subgroups of patients at risk of embolic complications]. / Terapia anticogulante orale nella cardiomopatia dilatativa. Risultati del trattamento con warfarin in sottogruppi di pazienti a rischio di complicanze emboliche.

BACKGROUND: The aim of the study was to assess the role of oral anticoagulant therapy in patients with dilated cardiomyopathy at risk of embolic complications. METHODS: We studied retrospectively two hundred thirty-six patients with dilated cardiomyopathy; sixty-eight cases, with intracavitary thrombosis at cross-sectional echocardiography (17 patients), embolic episodes (22), N.Y.H.A. functional class IV (38), chronic atrial fibrillation (23) or with a combination of such conditions, were treated with warfarin. The cumulative period of exposure to embolic events during follow-up was 814 years in the whole population in the absence of anticoagulant treatment and 213 years during treatment. RESULTS: The rate of new embolic events was 1.6 and 0 for 100 patients-years for the two periods respectively. The difference was not statistically significant. No clinically relevant haemorrhagic complication was seen during treatment. CONCLUSIONS: Oral anticoagulant therapy may be safely given to subgroups of patients with dilated cardiomyopathy at risk of embolic episodes, following empirical guidelines, provided a careful clinical and laboratory monitoring is carried on, even if no definite conclusion may be obtained about the efficacy of this treatment from a non-randomized study with low rates of new embolic events.

[The prognostic assessment of dilated cardiomyopathy: a follow-up of 138 patients]. / Valutazione prognostica della cardiomiopatia dilatativa: follow-up di 138 pazienti.

A total of 138 patients with idiopathic dilated cardiomyopathy were assessed and followed-up between July 1973 and October 1985 in order to evaluate prognostic risk indicators. Of these 102 were male and 36 were female with a mean age of 49.1 years. Each patient underwent physical examination, electrocardiography, echocardiography, cardiac catheterization and coronary angiography. The mortality rate was low for the first 3 years (respectively 8, 12.5 and 20%) while it was 57.5 at the end of the 5-year follow-up period. Univariate analysis at the time of the diagnosis revealed that five factors were predictive of the clinical course at the end of the fifth year: the NYHA functional class IV (p less than 0.0001); LV ejection fraction less than 0.30 (p less than 0.01); left ventricular failure, bi-ventricular failure and left ventricular end-diastolic pressure greater than 20 mmHg (p less than 0.05). Multivariate analysis was used to determine which combination of factors could most accurately predict survival. The most important prognostic factor was again the IV NYHA functional class (p less than 0.01) and, to a lesser degree, left ventricular end-diastolic pressure (p less than 0.05). The present study underlines that the survival rate of patients with dilated cardiomyopathy depends upon the selection of patients. This can explain the low 3-year mortality found in our patients. The NYHA functional class may be a useful practical guide for cardiac transplantation.

Lack of correlation between intracavitary thrombosis detected by cross sectional echocardiography and systemic emboli in patients with dilated cardiomyopathy.

The correlation between intracavitary thrombosis detected by cross sectional echocardiography and systemic embolism was studied in 126 consecutive patients with idiopathic dilated cardiomyopathy who were examined from January 1980 to September 1987. A total of 1041 serial echocardiograms were obtained with 3.5 and 5 MHz transducers. The mean follow up period was 41.2 months. The survival rate was 88% at two years and 56% at five years. Echocardiography showed intracavitary thrombi in 14 (11.1%) patients; 13 were mural and 11 were localised at the apex of the left ventricle. Twelve patients (8.4%) had systemic emboli; this corresponded to an incidence of new embolic events of 1.4 for 100 patient-years. Patients with intracavitary thrombi or systemic emboli were treated with oral anticoagulants, as were nine in functional class IV of the New York Heart Association, for 61 patient-years. The cumulative observation period for the whole population study was 418 patient-years. None of the patients with intracavitary thrombosis had embolic complications and none of those with embolism had intracavitary thrombi. Rates of intracavitary thrombosis and systemic embolism in this series were low and there was no overlap between the two events. This may have been because the patients did not have severe dilated cardiomyopathy, because echocardiography did not detect all the thrombi, or because patients were treated with oral anticoagulants. The presence of intracardiac thrombosis detected by cross sectional echocardiography is not predictive of systemic embolism in patients with idiopathic dilated cardiomyopathy. Criteria for the use of the anticoagulant treatment remain largely empirical in these cases.