Plainly summarising the language

Abstract

Introduction

POTS is a chronic syndrome with complex symptoms of orthostatic intolerance. It is defined as an increase in heart rate of ≥ 30bpm in adults (≥40 bpm in children) within 10 minutes of standing with no orthostatic drop in blood pressure.

POTS is more common in women. Symptoms can be debilitating (impairment comparable to congestive heart failure and COPD) and include palpitations, light headedness/syncope, chest discomfort, breathlessness, neuropathic pain, chronic fatigue, poor sleep efficience, gastrointestinal symptoms, syncope, cognitive slowing, and psychological distress.

Breathlessness is a common symptom in POTS. Breathlessness is often attributed to changes in breathing pattern, frequency, and/or quality occuring alongside cardiac symptoms. Breathlessness can be episodic, triggered by physical activity, stressful thoughts and events.

Dysfunctional breathing (DB) is an umbrella term describing breathing disorders where chronic changes in breathing pattern result in breathlessness and other symptoms without respiratory or cardiac disease. The most studied form of DB is hyperventilation syndrome (HVS)

Boulding et al. (2016) suggest classifying dysfunctional breathing into the following: 1) Hyperventilation syndrome (a respiratory pattern associated with symptoms both related to respiratory alkalosis and independent of hypocapnia), 2) Periodic deep sighing (frequent sighing with an irregular breathing pattern), 3) Thoracis dominant breathing (a respiratory pattern occurring separate to somatic disease may be considered dysfunctional and results in dyspnoea), 4) Forced abdominal expiration (inappropriate and excessive use of abdominal muscle contraction to aid expiration), 5) Thoraco-abdominal asynchrony (a respiratory pattern in which there is delay between rib cage and abdominal contraction resulting in ineffective breathing movements)

Patients with POTS often undergo extensive investigations due to the complexity of potential comorbidities but there is no guidance or consensus on the assessment of breathlessness.

Methods

Retrospective study of POTS patients referred to repiratory physiotherapy

Respiratory physiotherapy outpatient's referral criteria: tests performed and identification of DB/HVS are explained

Physiotherapy assessment and outcome measures

A standardised physiotherapy assessment of symptoms was performed on all patients (details provided in the paper)

Physiotherapy intervention:

The physiotherapy intervention was standaradised in terms of education and breathing re-training exercises and was delivered by a consultant physiotherapist of a highly specialised respiratory physiotherapist. Each patient was assessed and treated by the same physiotherapist.

Physiotherapy treatment

The educational component focused on patient's understanding of respiratory physiology and the mind-body link

Breathing re-training intervention involved teaching breathing control (details provided). The breathing retraining exercises were standardised and progressive. All techniques used were standard respiratory physiotherapy techniques commonly applied for acute and chronic respiratory disease. Their use for breathlessness in POTS had no previously been assessed.

Patients were discharged when they were confident to continue the re-training programme independently or if they did not attend for follow-up appointments.

Data analysis: details and figures provided in the paper

Results

Demographic information is given in Table 1

Signficiant improvements were observed and are noted in Table 2

Discussion

This paper is the first to characterise DB/HVS and investigate the impact of physiotherapy in POTS. The results indicate that breathing retraining results in significant improvements in breathing pattern and symptom burden thus potentially improving their health related quality of life. Further studies are needed.

Significance of the findings

it is estimated that DB/HVS affects 10% of the general population and is more prevalent in women than men. Patients with POTS who reported respiratory symptoms had DB/HVS. DB/HVS may coexist alongside chronic respiratory diseases and COPDalthough the relationship is unclear.

Although there were statistically significant improvements for the patient cohort as a whole, not all patients had complete resolutions of their DB/HVS and there are several limitations in interpreting the results for this study.

Unexplained breathlessness or 'air hunger' are predominant symptoms of DB/HVS and can result in significant patient morbidity and an array of non-respiratory symptoms which can themselves provoke anxiety/panic and further breathing irregularity

Whilst orthostatic tachycardia is the main symptom of POTS, orthostasis causes a variety of other symptoms through a vaireity of different mechanisms. The paper provides an overview of the hypothesised mechanisms.

Psychological influences (stress, axniety, depression, etc.) are highly prevalent in POTS patients and predispose them to DB/HVS. The impact of this study's intervention could, therefore, be partly related to a change in anxiety thanks to education, greater understanding of DB/HVS, and empowerment.

Proposed improvements for further studies include the inclusion of pre-post PaCO2 measurements, the exclusion of asthma and pulmonary hypertension, analysis of why patients attended appointments (and addressing the issues)

Access to respiratory physiotherapy outpatient services is limited across the NHS and many POTS patients are instead seen by muscluloskeletal physiotherapists due to comorbidities. Increased awareness may improve treatment for these patients

More data is needed to investigate the prevalence of dysfunctional breathing in POTS and how it relateds to other chronic conditions. More detailed investigation and assessment guidelines and techniques are needed.

Limitations

No control data were available

Outcome measures were potentially not sensitive to non-hyperventilatory dysfunctional breathing

Observational nature and small sample size did not allow exploration of the role of confounding variables

A selection bias may have been introduced due to this being a convenience sample

The Nijmegen score used to characterise these patients has not been validated in this patient population. Its limitations highlight the need for a holistic POTS-specific measure.

Physiological outcome measures for the diagnosis of HVS are often limited to specialist services so alternative diagnostic tests are sought. The Breathing Pattern Assessment Tool (BPAT) has demonstrated good sensitivity and specificity for the diagnosis of DB in refractory asthma. Responsiveness of the BPAT to treatment remains to be ascertained.

Measuring Neural Respiratory Drive (NRD) in breathlessness patients with POTS may be advantageous. NRD provides a global measure of breathlessness and a physiological correlate to breathlessness but there is no data on whether NRD is increased in POTS or on NRD pre-post respiratory interventions

Abstract

Introduction

Ehlers-Danlos syndrome represents a family of connective tissue disorders with overlapping features that commonly include joint hypermobility, tissue fragility, and skin hyperextensibility. it occurs in an estimated 1 in 2500 to 5000 babies worldwide anually.

There are currently 14 recognised subtypes, the most common of which is hypermobile EDS (hEDS) representing 80%-90% of all EDS cases with a suspected prevalence of up to 20 in 1000 babies. Molecular confirmation is used to diagnose all subtypes except hEDS although a genetic basis is suspected. The hEDS phenotype commonly includes neurological, cardiovascular, gastrointestinal, musculoskeletal, and mental health symptoms.

Some patients are hypermobile but do not fulfull the 2017 hEDS criteria and are diagnosed with hypermobility spectrum disorder HSD

Multidisciplinary care is recommended for the treatment of EDS. One area of unrecognised need is the support of transgender and gender diverse identity and gender-affirming treatment.

Little is known about children and adolescents with EDS who have gender dysphoria and/or express trans identity. A recent study of adults undergoing gender-affirming surgery found that 2.6% had a diagnosis of EDS, 130 times higher than the general population. Gender affirming clinics have noted a disproportionate number of patients with EDS although this data is more limited and localised. A recent case report of adults with EDS noted a range of psychological symptoms associated with transvestism [sic].

Gender dysphoria is defined as an incongruence between one's affirmed gender and gender assigned at birth (Table 1 details the DSM-5 criteria) and has a prevalence of 0.7% to 1.3% in children and adolescents (higher when self-reported). Gender dysphoria is associated with significant psychological distress (including anxiety, depression , social withdrawal, and suicidal ideation). Poorer psycological function is associated with social intolerance of gender dysphoria and gender nonconformity. Gender affirming medical care (GAMC) is shown to improve mental health and well-being of TGD children and adolescents

Methods and materials

A retrospective chart review was performed betwween January 2020 and May 2022, including patients seen in a multidiscliplinary EDS clinic who had an EDS or HSD diagnosis as well as reported gender dysphoria or transgender identity.

Statistical analysis

Ethical approval and informed consent

Results

28 patients were included in they analysis. Statistics on assigned gender at birth, hEDS/HSD diagnosis, age at diagnosis, and gender identity are provided

Symptom frequency and frequency of treatments are listed in Tables 2 and 3 respectively.

Discussion

17% of the EDS population in the multidisciplinary clinic self-report as TGD, dramatically higher than the 1.3% national average. The cause of this association is unclear but the findings indicated a need for increased awareness of TGD comorbid presentations in paediatric EDS patients. As GAMC is important to improce mental health and well-being, providers should ask relevant screening questions to identify gender identity.

There have been many reports of impairments in psychosocial and emotional functioning in children and adolescents with TGD (including depression , suicidality, self-harm, and eating disorders) and similar reports in individuals with EDS suggesting that both groups have a significant mental health burden.

The majority (89%) in this study identified as transmasculine (assigned female at birth but do not identify as female presently). This is higher than previous reports' suggestion that 55%-61% of TGD adolescents identify as transmasculine. Prior to 2005, the sex ratio of individuals with TGD was around 1:1 but there has been a shift since 2006. The reason is unclear. Over 90% of adolescents seen in the multidisciplinary EDS clinic are assigned femail at birth, likely introducing a sex bias in this study.

Most of the individuals in this study reported previous subspecialty care and many other visits across several other specialties which can be common since healthcare utilisation is high for EDS patients. Subspecialty care includes GAMC provided through the endocrine gender specialty clinic.

This study suggests that multidisciplinary EDS should adopt GAMC practices when possible (e.g., chosen pronoun usage, use of multiple gender labels for demographic information) which may require the development of clinic screening measures. A listing of gender specialty paediatric clinics in the United States is referenced.

Study limitations include the limited number of individuals and possible underestimation of individuals identifying as TGD (retrospective review), potentially unreliable documentation of co-occurring psychiatric diagnoses, a potential sample bias of increased clinical severity and need. The percentage of TGD seen at this clinic could be underestimated. Sample size calculations were not completed, formal measures were not obtained, and no comparisons were made between patients with TGD and EDS to those with EDS only

The study cannot answer why children with EDS are at higher risk for gender dysphoria but they speculate that minority stress affecting TGD children can exacerbate EDS symptoms

hEDS was the only EDS subtype represented likely reflective of the prevalence of hEDS compared to other subtypes; however, these findings could be unique to hEDS

This study may be capturing an overall increase in rates of TGD among youth in the US rather than a higher incidence of TGD in EDS patients as compared to the wider population

Abstract

Introduction

POTS is a chronic condition which involves a sustained an dexcessive increase in heart rate when moving from lying to standing. Criteria for diagnosis inclue and increase in heart rate on standing of 30-40 bpm or more depending on age.

The prevalence of POTS worldwide is not known (estimated 1/500 people or higher). It mainly affects females (5:1 ratio) between the ages of 12-40. Exact causes are not well known.

When standing, blood moves from the chest to lower areas of the body causing a drop in blood pressure which the autonomic nervous system (ANS) restores through vasoconstriction and only a small increase in heart rate. The ANS dysregulation in POTS is proposed to affect peripheral artery vasoconstriction, blood volume control, or heart rate control.

POTS has a wide range of cardiovascular-related symptoms including dizziness, blackouts, palpitations, chest pain, and breathlessness and a wide range of non-cardiovascular symptoms including migraines, gastrointestinal dysfunction, poor temperature control, muscle and joint pain, and fatigue due to widespread dysregulation of the ANS.

Management of cardiovascular symptoms usually involve increasing blood volume by drinking more fluid and adding salt to the diet, using compression clothing, and improving fitness. Medications including beta-blockers, fludrocortisone, midodrine, ivabradine, and pyridostigmine are also used.

This condition also causes symptoms in many organ systems. Assisting with respiratory dysregulation and optimising sleep has shown benefit. Urinary symptoms and bladder dysregulation appear common.

Only one published study (Kaufman et al., 2017)has investigated urinary symptoms in POTS patients finding that nocturia was the most bothersome symptoms followed by frequency and urgency. It also found 13/19 patients to have 'probable' OAB with OAB defined by the International Continence Society as 'urgency, with or without urgency urinary incontinence, usually with increased daytime frequency and nocturia'

Materials and Methods

Explains the method used for selection of patients, and collection and interpretation of data

Results

The population is characterised in this section (sex, hypermobility, age) and numerical data is provided in tables 1 through 4.

Discussion

The patients' sexes and mean age were similar to Kaufman, et al.'s study. Despite the prevalence of OAB in that study, only 14% in this study showed detrusor overactivity (DO) on their urodynamic studies (UDS). This study hypothesises that urinary urgency in some POTS patients results as their bladders fill to their maximum capacity without warning. Importantly, none of the patients demonstrated a 'dangerous bladded' that would put the upper tracts at risk.

Patients with POTS did show significant voiding abnormalities. Completed pressure-flow studies suggested a high prevalence of likely functional bladder outlet obstruction (BOO) and detrusor underactivity (DU)

DU is defined by the ICS as 'a contraction of reduced strength and/or duration resulting in prolonged bladder emptying and/or failure to achieve complete bladder emptying within a normal time span' and does not have a formal definition in females nor is the prevalence in younger and asymptomatic women known. This makes it difficult to ascertain whether the prevalence of BOO and DU is a specific feature of POTS.

The UDS findings display both storage and voiding abnormalities signifying autonomic dysfunction and possibly intrinsic muscle dysfunction. Given the similar findings of studies forcused on diabetes, similar autonomic neuropathy may be the cause of symptoms in POTS.

Patients are offered education and generally managed conservatively

High fluid and salt intake recommended to treat postural symptoms may aggravate OAB symptoms. It is also noted that the use of anticholinergic and beta 3 agonists likely to be of limited efficacy and may worse tachycardia

The study is limited by retrospective nature, small numbers (especially of male patients), lack of comparative group, and that not all patients underwent video UDS or urethral pressure profiling.

Conclusion

Abstract

Introduction

Functional seizures (FS) also known as psychogenic nonepileptic seizures (PNES) are episodes of altered awareness that resemble epileptic seizures or syncope but are not explained by these or other medical disorders. These are a common presentation in neurology and epilepsy clinics.

FS are associated with elevated morbidity and mortality rates as well as significant healthcare costs.

A current treatment is cognitive behavioural treatment (CBT) but this, and focussing on psychological comorbidities like anxiety and depression do not show definitive success. Recent research is centred around the interface between psychiatry and neurology in the case of FS

Join hypermobility (varied along a spectrum that includes Ehlers-Danlos syndrome and Marfan syndrome at its extreme) has been associated with several neuropsychiatric disorders including in a recent evaluation of a functional neurological disorder (FND) clinic which reported significant levels of hypermobility among patients, prompting this further investigation.

Methods

Diagnosis of FS made using the International League Against Epilepsy diagnostic criteria. Joint hypermobility was assessed using the Beighton Scale (BS).

Anxiety and depression were assessed with the State-Trait Anxiety Inventory and the Beck Depression Inventory

Results

Detailed results and statistical interpretation are given here. Hypermobility was significantly associated with FS independent of potentially confounding factors.

Figure 1 shows a plot supporting these findings

Discussion

Notwithstanding the selective nature of the study population, the results suggest that joint hypermobility is more frequently observed in patients with FS.

Since the study contained significantly more women (and joint hypermobility is more common in women), the prevalence of joint hypermobility was more common in the comparison group than the general population and the prevalence among patients with FS was even higher.

The results were significant even after controlling for anxiety and depression, suggesting that joint hypermobility is an independent likelihood factor for FS.

Differences in autonomic control , interoception, and brain structure which are associated with joint hypermobility may predispose patients to FS but more research is required to replicate these results and investigate the implications of this result on screening, diagnosis, and treatment of these patients.