Brain apnoea syndrome

Respiratory problems are a major cause of morbidity and mortality in patients with congenital myasthenic syndromes, a rare heterogeneous group of neuromuscular disorders caused by genetic defects impacting the structure and function of the neuromuscular junction. Recurrent, life-threatening episodic apnoea in early infancy and childhood and progressive respiratory failure requiring ventilation are features of certain genotypes of congenital myasthenic syndromes. Robb et al. published empirical guidance on respiratory management of the congenital myasthenic syndromes, but other than this workshop report, there are little published longitudinal natural history data on respiratory outcomes of these disorders...

Development of the sleep-wake rhythm has a significant effect on the physical and mental development of children. The sleep-wake rhythm is controlled by aminergic neurons in the brainstem's ascending reticular activating system, which is associated with synaptogenesis and the promotion of brain development. The sleep-wake rhythm develops rapidly within the first year after birth. At 3-4 months of age, the framework of the circadian rhythm is established. The objective of the present review is to assess a hypothesis concerning problems in the development of the sleep-wake rhythm and their effect on neurodevelopmental disorders...

BACKGROUND: The relationship between obstructive sleep apnea syndrome (OSAS) and ischaemic stroke is less known. OBJECTIVES: This study aimed to investigate the relationship between OSAS and silent brain infarcts (SBI). METHODS: Patients who applied to our clinic with the complaint of snoring, respiratory arrest during sleep, that underwent polysomnography were included. All patients were undergone cranial magnetic resonance imaging to detect SBI...

BACKGROUND: The relationship between obstructive sleep apnea syndrome (OSAS) and ischaemic stroke is less known. OBJECTIVES: This study aimed to investigate the relationship between OSAS and silent brain infarcts (SBI). METHODS: Patients who applied to our clinic with the complaint of snoring, respiratory arrest during sleep, that underwent polysomnography were included. All patients were undergone cranial magnetic resonance imaging to detect SBI...

A woman in her 30s with medically intractable epilepsy and Lennox-Gastaut Syndrome on multiple antiseizure medications and with a deep brain stimulator presented to the epilepsy monitoring unit with increased seizure frequency. She was noted to have periods of apparent apnoea time linked to bursts of epileptiform activity on continuous video EEG monitoring. Once the clinical seizures were controlled, she was discharged to the sleep laboratory. She was noted to have obstructive and central sleep apnoea, which improved with the use of positive airway pressure...

The autonomic nervous system (ANS) play an important role in the coordination of several physiological functions including sleep/wake process. Significant changes in ANS activity occur during wake-to-sleep transition maintaining the adequate cardiorespiratory regulation and brain activity. Since sleep is a complex homeostatic function, partly regulated by the ANS, it is not surprising that sleep disruption trigger and/or evidence symptoms of ANS impairment. Indeed, several studies suggest a bidirectional relationship between impaired ANS function (i...

It is critical to identify biomarkers for neurological diseases (NLDs) to accelerate drug discovery for effective treatment of patients of diseases that currently lack such treatments. In this work, we retrieved genotyping and clinical data from 1,223 UK Biobank participants to identify genetic and clinical biomarkers for NLDs, including Alzheimer's disease (AD), Parkinson's disease (PD), motor neuron disease (MND), and myasthenia gravis (MG). Using a machine learning modeling approach with Monte Carlo randomization, we identified a panel of informative diagnostic biomarkers for predicting AD, PD, MND, and MG, including classical liver disease markers such as alanine aminotransferase, alkaline phosphatase, and bilirubin...

A growing number of studies in animal models have highlighted the link between sleep disorders and Alzheimer's disease (AD). In the absence of curative treatment, it is therefore important to consider any comorbidities that may influence the course of AD such as obstructive sleep apnoea-hypnoea (OSAH) and its syndrome (OSAHS), which appear to be potentially interesting because it occurs frequently, it is treatable and it is often associated with cognitive impairment. The association between OSAH/OSAHS and cognition is variable across studies, but OSAH/OSAHS is more common in older patients with AD than in cognitively normal individuals...

BACKGROUND AND OBJECTIVE: Excessive daytime sleepiness (EDS) and fatigue are major complaints in patients with obstructive sleep apnoea (OSA) syndrome. Pitolisant is an orally active selective histamine H3 receptor (H3R) antagonist/inverse agonist, which enhances histaminergic transmissions in the brain and thereby elicits strong wake-promoting effects. This article assesses the efficacy and safety of pitolisant 20 mg in patients with OSA, based on existing randomised controlled studies...

The mechanism of death in Sudden infant death syndrome (SIDS) remains unknown but it is hypothesised that cardiorespiratory failure of brainstem origin results in early post-natal death. For a subset of SIDS infants, an underlying genetic cause may be present, and genetic abnormalities affecting brainstem respiratory control may result in abnormalities that are detectable before death. Genetic knockout mice models were developed in the 1990s and have since helped to elucidate the physiological roles of a number of genes...

OBJECTIVE: To describe the sleep problems experienced by children with Down syndrome attending a tertiary sleep clinic and relationship with behaviour, function and cognition. METHODS: Data were collected from children with Down syndrome aged 3-18 years old. Carers completed the Abbreviated Child Sleep Habits Questionnaire, Child Behaviour Checklist and Life-Habits Questionnaire at enrolment. Cognitive assessment (Stanford-Binet 5) was undertaken by a trained psychologist...

Prior to this study, the prevalence of obstructive sleep apnoea/hypopnoea syndrome (OSAHS) in adults with Down syndrome was unknown. We hypothesized that unrecognised OSAHS could have an additional deleterious impact on mood and behavioural disturbances in this group of people. AIMS: To assess the prevalence of OSAHS in adults with Down syndrome in the United Kingdom, subjectively and objectively, and ascertain its association with diurnal behavioural disturbances. METHOD: Cross-sectional questionnaire study with home sleep apnoea testing (HSAT) during 2011-2015 across the four nations of the United Kingdom...

STUDY OBJECTIVES: To evaluate tone, apraxia and stereognosis dysfunctions in patients with SDB compared with healthy controls, and to monitor the effectiveness of Airway Gym® as an easy-to-use myofunctional therapy (MT) modality in terms of the tongue's motor and sensory responses, comparing results before and after therapy. METHODS: This was a prospective, non-randomised pilot study of 25 patients with moderate to severe obstructive sleep apnoea-hypopnoea syndrome (OSAHS), 25 patients with primary snoring (PS) and 20 healthy controls...

BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare disorder caused by de novo mutations in the AT-Hook DNA binding motif Containing 1 ( AHDC1 ) gene, which is characterised by a wide spectrum of clinical manifestations, including global developmental delay, intellectual disability, structural abnormalities of the brain, global hypotonia, feeding problems, sleep difficulties and apnoea, facial dysmorphisms, and short stature. METHODS: Here, we report on a girl patient who shows a peculiar cognitive and behavioural profile including high-functioning autism spectrum disorder (ASD) without intellectual disability and provide information on her developmental trajectory with the aim of expanding knowledge of the XGS clinical spectrum...

We present the case of a patient with severe obstructive sleep apnoea (OSA) and hypoventilation syndrome who had hydrocephalus and acquired aqueduct stenosis. A link between these conditions in our patient is postulated. We discuss the mechanisms through which this might have occurred and the potential problems which might arise in applying non-invasive ventilation to a patient with hydrocephalus. LEARNING POINTS: Patients with severe obstructive sleep apnoea (OSA) and hypoventilation require AVAPS-AE ventilation to deal with obstructive and central events which may occur...

Non-alcoholic fatty liver disease (NAFLD) has emerged as the hepatic component of the metabolic syndrome and now seemingly affects one-fourth of the world population. Features associated with NAFLD and the metabolic syndrome have frequently been linked to cognitive dysfunction, i.e. systemic inflammation, vascular dysfunction, and sleep apnoea. However, emerging evidence suggests that NAFLD may be a cause of cognitive dysfunction independent of these factors. NAFLD in addition exhibits dysbiosis of the gut microbiota and impaired urea cycle function, favouring systemic ammonia accumulation and further promotes systemic inflammation...

Sleep disorders, such as sleep-disordered breathing (SDB), insomnia or restless legs syndrome (RLS), are common in the general population and after stroke. In some cases, sleep disturbances are pre-existing, but can also appear de novo as a direct consequence of brain damage or due to stroke-related complications. Furthermore, some sleep conditions may act as a risk factor of stroke. This review explores the available evidence of the two-way relationship between sleep and stroke. Cardiovascular physiological changes during sleep are described, as well as the evidence on the relationship between stroke and sleep duration, SDB, RLS, insomnia, excessive daytime sleepiness (EDS), and circadian rhythm alterations...

Adults with Down syndrome (DS) are predisposed to obstructive sleep apnoea (OSA), but the effectiveness and acceptability of continuous positive airway pressure treatment (CPAP) in this group has rarely been formally assessed. This study was designed as a pilot randomised, parallel controlled trial for one month, continuing as an uncontrolled cohort study whereby the control group also received the intervention. Symptomatic, community-dwelling DS individuals exhibiting ≥10 apnoeas/hypopneas per hour in bed on a Type 3 home sleep study were invited to participate in this study, with follow-up at 1, 3, 6, and 12 months from baseline...

The objective of the study was to observe brain function changes in Obstructive Sleep Apnoea Hypopnoea Syndrome (OSAHS) patients at high altitude. Resting-state functional magnetic resonance imaging (rs-fMRI) in patients with OSAHS was assessed using regional homogeneity (ReHo), amplitude of low frequency fluctuation (ALFF) and functional connectivity (FC). In this study, 36 male patients with OSAHS and 38 healthy male subjects were recruited from high-altitude areas, specifically, altitudes of 2,000-3,000 m...

Tachycardiomyopathy (TCM) is an underestimated cause of reversible left ventricle dysfunction. The aim of this study was to identify the predictors of recurrence and incidence of major cardiovascular events in TCM patients without underlying structural heart disease (pure TCM). The prospective, observational study enrolled all consecutive pure TCM patients. The diagnosis was suspected in patients admitted for heart failure (HF) with a reduced ejection fraction and concomitant persistent arrhythmia. Pure TCM was confirmed after the clinical and echocardiographic recovery during follow-up...