Postural orthostatic tachycardia syndrome is a debilitating disorder. We compared paediatric patients with this dysautonomia presenting with and without peak upright heart rate > 100 beats per minute.

Subjects were drawn from the Postural Orthostatic Tachycardia Syndrome Program database of the Children’s Hospital of Philadelphia diagnosed between 2007 and 2018. Subjects were aged 12–18 years at diagnosis with demographic data, supine and peak heart rate from 10-minute stand, symptoms, and family history. Patients were divided into “low heart rate” (peak less than 100 beats/minute) and “high heart rate” (peak at least 100 beats/minute) groups.

In total, 729 subjects were included (low heart rate group: 131 patients, high heart rate group: 598 patients). The low heart rate group had later age at diagnosis (16.1 versus 15.7, p = 0.0027). Median heart rate increase was 32 beats/minute in the low heart rate group versus 40 beats/minute in the high heart rate group (p < 0.00001). Excluding palpitations and tachypalpitations, there were no differences in symptom type or frequency between groups.

Paediatric patients meeting heart rate criteria for postural orthostatic tachycardia syndrome but without peak heart rate > 100 demonstrate no difference in symptom type or frequency versus those who meet both criteria. Differences observed reached statistical significance due to population size but are not clinically meaningful. This suggests that increased heart rate, but not necessarily tachycardia, is seen in these patients, supporting previous findings suggesting maximal heart rate is not a major determinant of symptom prevalence in paediatric postural orthostatic tachycardia syndrome.

Data for Emergency Department utilisation and diagnoses in adolescents with postural orthostatic tachycardia syndrome are lacking, making prevention of these visits more difficult to achieve.

We performed a retrospective study of patients with postural orthostatic tachycardia syndrome between ages 12 and 18 years seen in the Emergency Department at a large tertiary care children’s hospital. These subjects were age- and sex-matched with controls, with volume of primary and total diagnoses assessed. Due to the relatively small number of subjects, a ± 3-year variance was used among control patients for age matching.

A total of 297 patients in each group were evaluated. The percentage of female patients was 80.5%. The median age of the subjects was 15.1 years (interquartile range 14.1–15.9), and the median age of controls was 16.1 years (interquartile range 14.4–17.4) (p < 0.00001). Patients with postural orthostatic tachycardia syndrome had greater gastroenterologic and headache diagnoses (p < 0.00001); controls had greater autonomic and psychiatric diagnoses.

Adolescent patients with postural orthostatic tachycardia syndrome who present to the Emergency Department have a preponderance of gastroenterologic and headache complaints versus controls.

Disruptive behavior disorders (DBD) are heterogeneous at the clinical and the biological level. Therefore, the aims were to dissect the heterogeneous neurodevelopmental deviations of the affective brain circuitry and provide an integration of these differences across modalities.

We combined two novel approaches. First, normative modeling to map deviations from the typical age-related pattern at the level of the individual of (i) activity during emotion matching and (ii) of anatomical images derived from DBD cases (n = 77) and controls (n = 52) aged 8–18 years from the EU-funded Aggressotype and MATRICS consortia. Second, linked independent component analysis to integrate subject-specific deviations from both modalities.

While cases exhibited on average a higher activity than would be expected for their age during face processing in regions such as the amygdala when compared to controls these positive deviations were widespread at the individual level. A multimodal integration of all functional and anatomical deviations explained 23% of the variance in the clinical DBD phenotype. Most notably, the top marker, encompassing the default mode network (DMN) and subcortical regions such as the amygdala and the striatum, was related to aggression across the whole sample.

Overall increased age-related deviations in the amygdala in DBD suggest a maturational delay, which has to be further validated in future studies. Further, the integration of individual deviation patterns from multiple imaging modalities allowed to dissect some of the heterogeneity of DBD and identified the DMN, the striatum and the amygdala as neural signatures that were associated with aggression.

Postural tachycardia syndrome is more frequently being recognised in adolescents and adults. However, its pathophysiology remains undefined. We evaluated our database for patterns in family history of clinical symptoms and associated disorders in these patients.

Patients with postural tachycardia syndrome diagnosed in our clinic between 2014 and 2018 and who were less than 19 years at diagnosis were included. The history was reviewed for family members with postural tachycardia syndrome, dizziness and/or syncope, joint hypermobility with or without hypermobile Ehlers–Danlos syndrome, and autoimmune disorders. Statistical analysis assessed the entire cohort plus differences in gender, presence or absence of joint hypermobility, and presence or absence of familial autoimmune disease.

A total of 579 patients met inclusion criteria. We found that 14.2% of patients had a family member with postural tachycardia syndrome, with male patients more likely to have an affected family member (20% versus 12.7%, p = 0.04). If the patient also had joint hypermobility, male patients were more likely to have a family member with postural tachycardia syndrome (25% versus 12.6%, p = 0.017), more than one affected family member (7.1% versus 0.74%, p = 0.001), and a family member with joint hypermobility (37.5% versus 23.7%, p = 0.032). Autoimmune disease was seen in 45.1% of family members, but more likely in female patients with concurrent hypermobility (21.1% versus 8.9%, p = 0.035).

This in-depth analysis of associated familial disorders in patients with postural tachycardia syndrome offers further insight into the pathophysiology of the disorder, and informs further screening of family members in these patients.

Severe fatigue and cognitive dysfunction are frequent symptoms in patients with postural orthostatic tachycardia syndrome. They can be debilitating, and often do not resolve despite improvement in haemodynamic symptoms. Our analysis was intended to assess clinical outcomes of medication treatment for these symptoms in a large, single-centre paediatric programme.

We performed a retrospective review of patients treated for fatigue and cognitive dysfunction. Patients aged 18 years or younger at the time of initial diagnosis were included. Patients who had a specific medication ordered five or more times for these symptoms were confirmed by chart review for clinical improvement. Percentage of patients with clinical improvement for each medication and overall for all medications, as well as the number of medications per patient required to achieve improvement, were assessed. Data were analysed based on gender as well. t-Test and χ2 analyses were used to assess for differences between means in variables, or specific variables.

A total of 708 patients met study criteria, of whom 517 were treated for fatigue or brain fog. Overall efficacy was 68.8%, with individual medication effectiveness ranging from 53.1 (methylphenidate) to 16.5% (atomoxetine). There was no significant difference in efficacy with respect to gender. The median number of medications used per patient was 2, without gender difference. Therapy was limited by side effects or lack of efficacy.

Medications are effective in the improvement of fatigue and cognitive dysfunction in these patients. However, trials of multiple medications may be needed before achieving clinical improvement.

Postural orthostatic tachycardia syndrome encompasses multiple disabling symptoms that interfere with daily activities. Non-pharmacologic approaches can be insufficient and can require adjunctive medications to manage symptoms. Minimal data exist in the literature on medication outcomes in these patients. We reviewed our database for medication management outcomes.

Patients aged 18 years and younger at initial diagnosis met the inclusion criteria. All prescribed patient medications were extracted from the electronic health record, excluding medications for unrelated symptoms or comorbid diseases. Medications were grouped by symptom class consistent with our programme utilisation protocol. Within symptom classification, therapy was deemed successful when a specific dose was prescribed at least five consecutive times without changes; this was confirmed by chart review. Individual medications and overall percentage of successful therapies within symptom classifications were assessed, with further analysis by gender. t-Test, χ2, and Mann–Whitney U-test were used to assess for differences in specific variables, as appropriate.

A total of 708 patients met the study criteria. The percentage of patients with effective therapy by symptom includes light-headedness (52.2%), headache (48.2%), nausea (39.1%), dysmotility (43.4%), pain (53.4%), and insomnia (42.8%). Insomnia therapy was better for females; all other therapies showed no gender difference. The median number of therapies prescribed per patient per symptom was 2 for light-headedness, headache, and insomnia, and 1 for nausea, dysmotility, and pain.

Symptoms associated with this disorder can be effectively managed with various medications. Further randomised studies are needed to better ascertain true efficacy compared with placebo.

The aim of this study was to identify and evaluate demographic and clinical features of paediatric patients with postural orthostatic tachycardia syndrome in a tertiary hospital speciality clinic.

This is a retrospective review of clinical data obtained during initial outpatient evaluation.

A total of 708 patients met the evaluation criteria. Female patients outnumbered males, 3.45:1. Caucasians were over-represented at 94.1% of patients. Median age at diagnosis was 15.7 years. Joint hypermobility occurred in 57.3% of patients; 22.4% had hypermobile Ehlers–Danlos syndrome; and 34.9% had hypermobility spectrum disorder. Median age of onset of symptoms was 12.6 years in patients with hypermobility versus 13.7 years in those without (p=0.0001). Median duration of symptoms was 3.3 years with hypermobility versus 1.5 years without (p<0.00001). Putative triggers included infection in 23.6% of patients, concussion in 11.4%, and surgery/trauma in 2.8%. Concurrent inflammatory disorders were noted in 5.2% of patients. Six symptoms comprised 80% of initial patient complaints. Overall, 66% of patients subsequently had at least 10 symptoms, 50% had at least 14 symptoms, and 30% reported at least 26 symptoms. Symptoms were largely cardiovascular, gastrointestinal, and neurological. Paediatric patients with postural orthostatic tachycardia syndrome seen in a large speciality clinic are predominantly female, are mostly Caucasian, have onset of symptoms in early adolescence, and have symptoms for over two years before diagnosis. Over half of patients have joint hypermobility. More than one-third of patients have a possible autoimmune or inflammatory trigger, including infection, concussion, or surgery/trauma. Patients experience symptoms that are highly variable and multi-system in origin over the course of illness.

We sought to benchmark the utilisation of echocardiography in the outpatient evaluation of heart murmurs by evaluating two large paediatric cardiology centres.

Although criteria exist for appropriate use of echocardiography, there are no benchmarking data demonstrating its utilisation.

We performed a retrospective cohort study of outpatients aged between 0 and 18 years at the Sibley Heart Center Cardiology and the Children’s Hospital of Philadelphia Division of Cardiology, given a sole diagnosis of “innocent murmur” from 1 July, 2007 to 31 October, 2010. Using internal claims data, we compared the utilisation of echocardiography according to centre, patient age, and physician years of service.

Of 23,114 eligible patients (Sibley Heart Center Cardiology: 12,815, Children’s Hospital of Philadelphia Division of Cardiology: 10,299), 43.1% (Sibley Heart Center Cardiology: 45.2%, Children’s Hospital of Philadelphia Division of Cardiology: 40.4%; p<0.001) underwent echocardiography. There was wide variability in the utilisation of echocardiography by individual physicians at both centres (Sibley Heart Center Cardiology 18.3–85.5%, median 45.4%; Children’s Hospital of Philadelphia Division of Cardiology 13.9–81.8%, median 34.7%, p=0.45). Children in their first month of life represented the group with highest utilisation of echocardiography (62.3%), whereas children aged >1–5 years had the lowest utilisation (32.7%).

In two large paediatric cardiology practices, the overall utilisation of echocardiography by physicians with a sole diagnosis of innocent murmur was similar. There was significant and similar variability in utilisation by provider at both centres. Although these data serve as initial benchmarking, the variability in utilisation highlights the importance of appropriate use criteria.