Cardiac autonomic control during non‐REM and REM sleep stages in paediatric patients with Prader‐Willi syndrome

Queiroga, Thereza Lemos de Oliveira; Franco, Ruth Rocha; Passone, Caroline; Lopes, Marta B.; Shea, Steven; Bueno, Clarissa; Soster, Leticia Azevedo

doi:10.1111/jsr.13165

Cited by 9 publications

(7 citation statements)

References 40 publications

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“…Although exhibiting heterogeneity, PWS was the first microdeletion condition to be identified on chromosomal analysis with high resolution. In addition, it is a uniparental-disomic and gene-imprinting disorder epitomized by distinct phenotypic behavior [ 1 ]. The major signs consist of infantile hypotonia, intellectual disability, hypogonadism, and short stature.…”

Section: Discussionmentioning

confidence: 99%

“…In the United States, epidemiological records indicate the sporadic nature of the disease. Brito et al [ 1 ] record a prevalence rate of 1 in 16,000, while Butler et al [ 2 ] reported a prevalence of 1 in 24,590. Generally, prevalence estimates fall from 1 in 10,000 to 20,000 individuals in the United States, while global incidence rates range from 1 in 10,000 to 1 in 30,000 [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Obesity complications such as sleep apnea and type II diabetes are major contributors to the mortality rate of people with PWS. Brito et al [ 1 ] suspected a lower heart rate in slow-wave sleep than normal individuals due to modulation by a parasympathetic pathway triggered by a failure in cardiac autonomic balance. Differences in sexes are absent as PWS is a result of chromosomal 15's proximal arm losing paternal copy in domain 15p11-13.…”

Section: Introductionmentioning

confidence: 99%

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Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review

Bellman

Abbass

Sohail³

et al. 2021

Case Reports in Psychiatry

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Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder which is often associated with significant behavioral challenges and poor intellectual functioning. Research has shown that individuals with PWS are more likely to experience mental health problems, have higher relapse rates, and are at risk of self-harming behavior. Although PWS is associated with mild intellectual disability, which in itself confers a higher mortality rate, suicidality in this population is so far unreported in the literature. We present the case of an 18-year-old male patient who was admitted to our facility following exogenous insulin administration with suicidal intent. The main clinical characteristics, self-harming behaviors, and suicide risk factors of patients with PWS are discussed in this report. The article’s objective is to redirect clinicians’ attention to carefully screen and treat the underlying behavioral problems in PWS patients.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review

Bellman

Abbass

Sohail³

et al. 2021

Case Reports in Psychiatry

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“…In the context of neurodevelopmental disorders, patients with attention-deficit/hyperactivity disorder (ADHD) show reduced vagally-mediated HRV after a task demand ( Robe et al, 2019 ). In addition, a relative cardiac autonomic imbalance (a lower parasympathetic modulation) has also been found in pediatric patients with Prader-Willi syndrome ( Brito et al, 2021 ). Concerning psychiatric disorders, patients with schizophrenia and bipolar disorder exhibit reductions in HRV, which have been linked to disease severity ( Benjamin et al, 2021 ).…”

Section: Heart Rate Variability Analysis As a Methods For Assessing C...mentioning

confidence: 99%

Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis

et al. 2023

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Rett syndrome (RTT) is a rare and severe neurological disorder mainly affecting females, usually linked to methyl-CpG-binding protein 2 (MECP2) gene mutations. Manifestations of RTT typically include loss of purposeful hand skills, gait and motor abnormalities, loss of spoken language, stereotypic hand movements, epilepsy, and autonomic dysfunction. Patients with RTT have a higher incidence of sudden death than the general population. Literature data indicate an uncoupling between measures of breathing and heart rate control that could offer insight into the mechanisms that lead to greater vulnerability to sudden death. Understanding the neural mechanisms of autonomic dysfunction and its correlation with sudden death is essential for patient care. Experimental evidence for increased sympathetic or reduced vagal modulation to the heart has spurred efforts to develop quantitative markers of cardiac autonomic profile. Heart rate variability (HRV) has emerged as a valuable non-invasive test to estimate the modulation of sympathetic and parasympathetic branches of the autonomic nervous system (ANS) to the heart. This review aims to provide an overview of the current knowledge on autonomic dysfunction and, in particular, to assess whether HRV parameters can help unravel patterns of cardiac autonomic dysregulation in patients with RTT. Literature data show reduced global HRV (total spectral power and R-R mean) and a shifted sympatho-vagal balance toward sympathetic predominance and vagal withdrawal in patients with RTT compared to controls. In addition, correlations between HRV and genotype and phenotype features or neurochemical changes were investigated. The data reported in this review suggest an important impairment in sympatho-vagal balance, supporting possible future research scenarios, targeting ANS.

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“…A disfunção do sistema parassimpático exacerbada pelos DRS foi relatada na literatura como outra possível disfunção em pacientes pediátricos com SPW. Foi constatado por Brito et al (2021) (57) que o desequilíbrio autonômico cardíaco devido à modulação cardíaca parassimpática prejudicada durante o sono de ondas lentas, resulta em aumento da frequência cardíaca mesmo sem a presença de qualquer doença cardiovascular e independente da obesidade. Estas diferenças cardiovasculares podem indicar um risco cardiovascular mais elevado mesmo durante a infância e, portanto, é prudente monitorar também a saúde cardiovascular dos pacientes pediátricos com SPW.…”

Section: Distúrbios Respiratórios Do Sono Na Spwunclassified

A interação entre achados polissonográficos, padrão genético e anatomia de via aérea superior na síndrome de Prader-Willi

Queiroga

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Cardiac autonomic control during non‐REM and REM sleep stages in paediatric patients with Prader‐Willi syndrome

Cited by 9 publications

References 40 publications

Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review

Suicidality and Self-Harming Behaviors in Patients with Prader-Willi Syndrome (PWS): Case Report and Literature Review

Cardiac autonomic control in Rett syndrome: Insights from heart rate variability analysis

A interação entre achados polissonográficos, padrão genético e anatomia de via aérea superior na síndrome de Prader-Willi

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