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1.
J Intellect Disabil Res ; 64(11): 875-880, 2020 Nov.
Article in English | MEDLINE | ID: mdl-32893933

ABSTRACT

BACKGROUND: Down's syndrome (DS) predisposes to sleep-disordered breathing (SDB). In children with DS, behavioural and emotional disturbances secondary to SDB are often assumed to result from cognitive impairment alone. Our aim was to explore the relationship of behavioural and emotional disturbances with SDB in a population of children with DS. METHODS: A modified sleep questionnaire, Epworth Sleepiness Scale (ESS), Paediatric ESS and the short form of the developmental behaviour checklist (DBC-P24) were sent to 261 carers of children aged 4 to 15 years with DS in 2012. RESULTS: Of 120 participants, 25% had probable SDB. In children with probable SDB compared to those without nocturnal symptoms, the total behaviour problem score (TBPS) was significantly higher (20.3 ± 8.6/48 vs. 12 ± 7.5/48; P = 0.002) as was the PaedESS (7.7 ± 5.6/24 vs. 2.8 ± 3.5/24; P = 0.002). For every increase in frequency of choking attacks, snoring and night awakenings, the TBPS increased by 1.37, 1.28 and 1.75 points, respectively, indicating worsening behaviour. The TBPS was found to decrease by 1.31 points for every hour more of self-reported sleep duration (r = -0.25, P = 0.017). CONCLUSIONS: SDB symptoms and shorter self-reported sleep duration are highly prevalent among children with DS and are independently associated with worsening behaviour using the TBPS.

2.
Psychol Med ; 49(12): 2081-2090, 2019 09.
Article in English | MEDLINE | ID: mdl-30293538

ABSTRACT

BACKGROUND: The prevalence of sleep problems among pregnant women is over 50%, and daytime sleepiness is among the most common sleep problems. Previous studies have associated antenatal sleep problems with adverse maternal health and neonatal outcomes, but the consequences of antenatal sleep problems and particularly daytime sleepiness on child psychological development have not been assessed prospectively. METHODS: In this prospective cohort study including 111 mother-child dyads, we examined the associations of maternal daytime sleepiness during pregnancy, assessed at 17 and 28 weeks of gestation using the Epworth Sleepiness Scale, with child neuropsychiatric problems and neuropsychological development, assessed with mother-rated questionnaires and individually administered neuropsychological tests, at child age 2.6-5.7 years (mean = 4.3 years). RESULTS: Independently of sociodemographic and perinatal covariates and maternal depressive and anxiety symptoms during and/or after pregnancy, maternal antenatal daytime sleepiness was associated with increased total [unstandardized regression coefficient (B) = 0.25 standard deviation (s.d.) units; 95% confidence interval (CI) 0.01-0.48] and internalizing (B = 0.25 s.d.s: 95% CI 0.01-0.49) psychiatric problems and ADHD symptoms (B = 0.27 s.d.s: 95% CI 0.04-0.50) in children, and with poorer executive function, particularly in the areas of attention, working memory and inhibitory control (B = -0.39 s.d.s: 95% CI -0.69 to -0.10). CONCLUSIONS: Maternal antenatal daytime sleepiness carries adverse consequences for offspring psychological development. The assessment of sleep problems may be an important addition to standard antenatal care.


Subject(s)
Neurodevelopmental Disorders/epidemiology , Prenatal Exposure Delayed Effects/epidemiology , Sleep Wake Disorders/epidemiology , Sleepiness , Adult , Child, Preschool , Female , Humans , Linear Models , Male , Mother-Child Relations , Neurodevelopmental Disorders/etiology , Neuropsychological Tests , Obesity/complications , Pregnancy , Prospective Studies , Scotland , Surveys and Questionnaires
3.
Sleep Breath ; 23(3): 805-814, 2019 Sep.
Article in English | MEDLINE | ID: mdl-30467691

ABSTRACT

PURPOSE: The aim of the current study was to further investigate the concept of previously reported high occurrence of comorbidities in obstructive sleep patients (OSA) with insomnia-like symptoms. We hypothesized that this finding at least partly is mediated by nocturnal hypoxia. Moreover, we speculated that the spectrum of the clinical OSA phenotypes differs between European geographical regions. METHODS: Cohort of the European Sleep Apnea Database (n = 17,325; 29.9% females) was divided into five subcohorts according to geographical region (North, East, South, West, Central) and further into four clinical presentation phenotypes based on daytime symptoms (EDS) and characteristics suggestive of insomnia. RESULTS: The insomnia phenotype (alone or together with EDS) dominated in all European regions. Isolated insomnia, however, was less common in the West. Insomnia phenotype was associated with the highest proportion of cardiovascular comorbidity (51.7% in the insomnia vs. 43.9% in the EDS type). Measures of nocturnal hypoxemia were independently associated with cardiovascular comorbidity in phenotypes with insomnia-like symptoms. The burden of comorbidities was high across all geographical regions and clinical phenotypes. Regional differences were clinically relevant for age (48 vs. 54 years), BMI (29 vs. 34 kg/m2), and ODI (15 vs. 32/h). CONCLUSION: High prevalence of particularly cardiovascular comorbidity among patients with insomnia-like symptoms was linked to nocturnal hypoxemia. Considerable differences in clinical presentation were found among OSA patients across Europe. Our data underline that physicians should ask their patients with suspected OSA also for insomnia symptoms. It remains to be explored if a reduction of nocturnal hypoxemia predicts the improvement of insomnia symptoms.


Subject(s)
Cardiovascular Diseases/epidemiology , Circadian Rhythm/physiology , Hypoxia/epidemiology , Sleep Initiation and Maintenance Disorders/epidemiology , Adult , Cardiovascular Diseases/diagnosis , Comorbidity , Europe , Female , Humans , Hypoxia/diagnosis , Male , Middle Aged , Prevalence , Risk Factors , Sleep Apnea, Obstructive/epidemiology , Sleep Initiation and Maintenance Disorders/diagnosis
4.
Sleep Med ; 16(6): 792-5, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25953302

ABSTRACT

OBJECTIVE: The pro-inflammatory cytokines, TNF-α, IL-6, and IL-8 are elevated in obstructive sleep apnoea/hypopnoea syndrome (OSAHS). Cytokine gene interactions are complex and haplotype analysis may be more informative. We hypothesized that the effects of TNF-α in OSAHS might be due to linkage disequilibrium of the TNF-α (-308A) single nucleotide polymorphism (SNP) with other polymorphisms within the TNF-α gene, and that predisposition to elevated IL-6 and IL-8 levels in OSAHS might be attributable to pro-inflammatory IL-6 and IL-8 gene promoter polymorphisms. METHOD: 173 subjects were classified as having definite OSAHS or not on the basis of apnoea-hypopnoea frequency, sex, age, and symptoms. Population controls comprised 192 random UK blood donors. Genotyping was undertaken for the TNF-α promoter polymorphisms (-1031, -863, -857, -238), two lymphotoxin-α polymorphisms (intron 1 and Thr60Asn), the pro-inflammatory IL-6 gene promoter polymorphism (-174), and IL-8 gene promoter polymorphisms (-251; -781). RESULTS: There was no significant difference between groups re: genotype/allelic frequency in the genes investigated. Association between disease status and the TNF-α alleles independently (TNF-103, TNF-803, TNF-857, TNF-238) with five haplotypes of TNF-α was not significant (p > 0.05). There was no difference in allelic or genotypic frequencies between obese and non-obese subjects with OSAHS. The TNF-α (-863A) allele alone, was significantly associated with obesity (OR 2.4; CI95% 1.1-5; p = 0.025). CONCLUSION: Only the TNF-α (308A) SNP appears to be significantly associated with OSAHS. The impact of cytokine gene polymorphisms on phenotypic expression of inflammation in OSAHS is likely to be complex.


Subject(s)
Alleles , Polymorphism, Genetic/genetics , Sleep Apnea, Obstructive/genetics , Tumor Necrosis Factor-alpha/genetics , Adult , Female , Genetic Association Studies , Genotype , Humans , Linkage Disequilibrium/genetics , Male , Middle Aged , Obesity/genetics , Polymorphism, Single Nucleotide/genetics , Polysomnography , Sleep Apnea, Obstructive/diagnosis
5.
Eur J Neurol ; 19(5): 696-702, 2012 May.
Article in English | MEDLINE | ID: mdl-22182320

ABSTRACT

BACKGROUND AND PURPOSE: There is a high incidence of sleep-disordered breathing (SDB) in narcoleptic patients. Some narcoleptics with SDB may benefit from treatment with continuous positive airway pressure therapy (CPAP). The aim of this study was to examine the prevalence of SDB in narcoleptics referred to a tertiary sleep disorders clinic and assess the effectiveness of CPAP as adjunctive therapy. METHODS: A retrospective review of patients meeting ICSD-2 criteria for the diagnosis of narcolepsy from 2000 to 2009. RESULTS: One hundred and two patients (61 women) with narcolepsy were included in the study. Twenty-nine (29) patients (eight women, 21 men) were diagnosed with obstructive sleep apnoea-hypopnoea syndrome (OSAHS) of whom 26 commenced CPAP therapy with 11 patients concurrently treated with stimulants. Patients with narcolepsy and OSAHS were older (P = 0.009) and heavier (BMI, 29.6 ± 4.8 vs. 27.3 ± 6, P = 0.042), but their ESS did not differ from patients with narcolepsy alone. Patients treated with both CPAP and stimulants were younger (P = 0.008) and less obese (BMI, 29.1 ± 4.6 vs. 30.4 ± 5.4, P = 0.044) with higher apnoea-hypopnoea index (36.15 ± 21.9 vs. 31.5 ± 16.7, P = 0.03) than those treated with CPAP alone. The ESS of CPAP-treated patients improved during follow-up (19 ± 3.6 vs. 15.8 ± 4.5, P = 0.006), but BMI increased (30.6 ± 5 vs. 31.7 ± 5.6, P = 0.05). The use of stimulants did not seem to improve on the effectiveness of CPAP. CONCLUSION: Coexisting SDB is common in narcoleptics (28.5%). CPAP therapy in narcoleptics with OSAHS remains a useful second-line adjunct to standard therapy.


Subject(s)
Continuous Positive Airway Pressure/methods , Narcolepsy/epidemiology , Narcolepsy/therapy , Sleep Apnea Syndromes/epidemiology , Adult , Age Factors , Aged , Body Mass Index , Female , Follow-Up Studies , Humans , Male , Middle Aged , Narcolepsy/diagnosis , Prevalence , Retrospective Studies , Sleep Apnea Syndromes/diagnosis , Statistics, Nonparametric
7.
Eur J Neurol ; 18(7): 1017-20, 2011 Jul.
Article in English | MEDLINE | ID: mdl-21658163

ABSTRACT

BACKGROUND AND PURPOSE: The second version of the International Classification of Sleep Disorders suggests narcolepsy with cataplexy can be diagnosed on history alone. PATIENTS: Five patients with a history supportive of narcolepsy/cataplexy. METHOD: Case review following clinical investigation. RESULTS: None of the five patients had a diagnosis of narcolepsy/cataplexy on the basis of objective testing using polysomnography (PSG) and multiple sleep latency testing (MSLT). CONCLUSION: PSG and MSLT should always be used in conjunction with a comprehensive history taken by an experienced sleep physician to support a diagnosis of narcolepsy with cataplexy and to exclude other conditions that may mimic narcolepsy.


Subject(s)
Medical History Taking , Narcolepsy/diagnosis , Adult , Humans , International Classification of Diseases , Middle Aged , Polysomnography
8.
Sleep Med ; 12(2): 190-7, 2011 Feb.
Article in English | MEDLINE | ID: mdl-21167776

ABSTRACT

OBJECTIVES: In Europe, the services provided for the investigation and management of obstructive sleep apnoea (OSA) varies from country to country. The aim of this questionnaire-based study was to investigate the current status of diagnostic pathways and therapeutic approaches applied in the treatment of OSA in Europe, qualification requirements of physicians involved in diagnosis and treatment of OSA, and reimbursement of these services. METHODS: Two questionnaires were sent to 39 physicians in 22 countries in Europe. In order to standardize the responses, the questionnaire was accompanied by an example. RESULTS: Sleep centers from 21 countries (38 physicians) participated. A broad consistency among countries with respect to the following was found: pathways included referral to sleep physicians/sleep laboratories, necessity for objective diagnosis (primarily by polysomnography), use of polygraphic methods, analysis of polysomnography (PSG), indications for positive airway pressure (PAP) therapy, application of standard continuous PAP (CPAP) therapy (100% with an CPAP/APAP ratio of 2.24:1), and the need (90.5%) and management of follow-up. Differences were apparent in reimbursement of the diagnostic procedures and follow-up, in the procedures for PAP titration from home APAP titration with portable sleep apnea monitoring (38.1%) up to hospital monitoring with PSG and APAP (85.7%), and in the qualification requirements of sleep physicians. CONCLUSIONS: Management of OSA in different European countries is similar except for reimbursement rules, qualification of sleep specialists and procedures for titration of the CPAP treatment. A European network (such as the one accomplished by the European Cooperation in Science and Technology [COST] B26 Action) could be helpful for implementing these findings into health-service research in order to standardize management in a cost effective perspective.


Subject(s)
Continuous Positive Airway Pressure , Health Care Surveys , Polysomnography , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/therapy , Certification , Europe , Humans , Internationality , Medicine/standards , Professional Practice , Surveys and Questionnaires
10.
Eur Respir J ; 33(4): 907-14, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19336593

ABSTRACT

Epidemiological studies have revealed a high prevalence of sleep-disordered breathing in the community (up to 20%). A subset of these patients has concurrent symptoms of excessive daytime sleepiness attributable to their nocturnal breathing disorder and is classified as having obstructive sleep apnoea/hypopnoea syndrome (4-5% of the middle-aged population). There is strong evidence for an association of sleep apnoea with cardiovascular and cerebrovascular morbidity, as well as adverse public health consequences. Treatment and diagnosis have remained largely unchanged over the past 25 yrs. In moderate-to-severe obstructive sleep apnoea/hypopnoea syndrome, treatment with continuous positive airway pressure has been shown to be effective. Questions remain as to how to screen patients with sleep-disordered breathing. Should time-consuming diagnostic procedures with high sensitivity and specificity be employed, or should simpler methods be applied for screening populations at risk, e.g. in the primary care sector?


Subject(s)
Sleep Apnea Syndromes/epidemiology , Sleep Apnea, Obstructive/epidemiology , Comorbidity , Female , Humans , Male , Risk Assessment , Risk Factors , Sleep Apnea Syndromes/complications , Sleep Apnea Syndromes/diagnosis , Sleep Apnea Syndromes/therapy , Sleep Apnea, Obstructive/complications , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/therapy , Syndrome
11.
Eur Respir J ; 33(3): 646-55, 2009 Mar.
Article in English | MEDLINE | ID: mdl-19251800

ABSTRACT

Obstructive sleep apnoea/hypopnoea syndrome (OSAHS) is a common condition affecting approximately 2-4% of the middle-aged population. A hereditary component to the condition has long been recognised but its genetic basis has been difficult to elucidate. Progress in determining the genotype of OSAHS is hampered by the lack of a consistent definition of phenotype and the large environmental influences on its expression. "Intermediate phenotypes", such as craniofacial structure, obesity and upper airway control, have been utilised. Multiple gene polymorphisms have been explored in association with the latter, as well as with the sequelae of OSAHS, such as hypertension and increased insulin resistance. To date, two genome-wide scans have identified potential regions that may be of interest in further defining the intermediate phenotypes. The present paper focuses on human studies with an update of the most recent work in the area, including a short discussion on methods of genetic studies.


Subject(s)
Sleep Apnea Syndromes/diagnosis , Sleep Apnea Syndromes/epidemiology , Sleep Apnea, Obstructive/diagnosis , Sleep Apnea, Obstructive/epidemiology , Adult , Animals , Disease Models, Animal , Disease Progression , Female , Genotype , Humans , Hypertension/genetics , Insulin Resistance , Male , Phenotype , Polymorphism, Genetic , Sleep Apnea Syndromes/genetics , Sleep Apnea, Obstructive/genetics , Syndrome
13.
Eur Respir J ; 26(4): 673-8, 2005 Oct.
Article in English | MEDLINE | ID: mdl-16204600

ABSTRACT

Patients with obstructive sleep apnoea-hypopnoea syndrome (OSAHS) have elevated circulating levels of tumour necrosis factor (TNF)-alpha. The hypothesis in this study was that OSAHS might be associated with the TNF-alpha (-308A) gene polymorphism, which results in increased TNF-alpha production. This hypothesis was examined in OSAHS patients, their siblings and population controls. A total of 206 subjects were recruited. All underwent sleep studies and clinical review, and were subsequently classified as having OSAHS or not depending on apnoea-hypopnoea frequency, sex, age and symptoms. All subjects had blood collected and genotyping was performed on DNA extracted from peripheral leukocytes. Some 192 random UK blood donors were used as population controls. The results demonstrated a significant association for TNF-alpha (-308A) allele carriage with OSAHS (OR=1.8; 95% Confidence interval: 1.18-2.75) when compared with population controls. Siblings with OSAHS were significantly more likely to carry the TNF-alpha (-308A) allele. In addition, 21 pairs of male siblings discordant for carriage of the -308A allele showed a significant level of discordance for the OSAHS phenotype. In conclusion, this study demonstrates an association of tumour necrosis factor-alpha (-308A) carriage with obstructive sleep apnoea-hypopnoea syndrome, suggesting that inflammation may be implicated in the pathogenesis of this condition.


Subject(s)
Sleep Apnea Syndromes/genetics , Tumor Necrosis Factor-alpha/genetics , Adult , Alleles , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Heterozygote , Humans , Male , Middle Aged , Polymorphism, Genetic
14.
Intern Med J ; 34(3): 126-9, 2004 Mar.
Article in English | MEDLINE | ID: mdl-15030461

ABSTRACT

Pro- and anti-fibrotic cytokine gene polymorphisms may affect expression of idiopathic pulmonary fibrosis (IPF). The aims of the present case-control study were to examine polymorphisms in the IL-6, transforming growth factor (TGF)-beta 1, tumour necrosis factor (TNF)-alpha and interleukin-1 (IL-1)Ra genes in patients with IPF (n = 22) -compared to healthy controls (n = 140). Genotyping was performed on DNA extracted from peripheral blood lymphocytes, using polymerase chain reaction - restriction fragment length polymorphism with gene polymorphisms determined according to -published techniques. The following sites were examined: (i) IL-1Ra*1-5 (86 bp variable tandem repeat intron 2), (ii) IL-6 (-174G > C), (iii) TNF-alpha (-308G > A) and (iv) TGF-beta 1 (Arg25Pro). The TNF-alpha (-308 A) allele was over-represented in the IPF (p(corr) = 0.004) group compared to controls. Risk of IPF was significant for heterozygotes for: (i) the TNF-alpha (-308 A) allele (A/G) (odds ratio (OR) 2.9; 95% confidence interval (CI) 1.2-7.2; P = 0.02), (ii) homozygotes (A/A) (OR 13.9; 95%CI 1.2-160; P = 0.04) and (iii) carriage of the allele (A/A + A/G) (OR 4; 95%CI 1.6-10.2; P = 0.003). The distribution of alleles and genotypes for IL-6, TGF-beta 1 and IL-1Ra between the two groups was not significantly different. This is the third study to independently confirm that there is a significant association of the TNF-alpha (-308 A) allele with IPF. Further research is needed to assess the utility of cytokine gene polymorphisms as markers of disease -susceptibility.


Subject(s)
Cytokines/genetics , Polymorphism, Genetic/genetics , Pulmonary Fibrosis/genetics , Aged , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Interleukin 1 Receptor Antagonist Protein , Interleukin-1/genetics , Interleukin-6/genetics , Male , Middle Aged , Queensland , Sialoglycoproteins/genetics , Transforming Growth Factor beta/genetics , Transforming Growth Factor beta1 , Tumor Necrosis Factor-alpha/genetics , White People/genetics
15.
Eur Respir J ; 19(6): 1114-8, 2002 Jun.
Article in English | MEDLINE | ID: mdl-12108865

ABSTRACT

This is the first Australian study to examine survival and clinical characteristics in biopsy-proven idiopathic interstitial pneumonia. A cohort of 70 patients from a single institution between January 1990 and December 1999 was reviewed. All patients were Caucasian, 23 (33%) female. Mean age+/-SD at diagnosis was 60+/-12 yrs for males and 54+/-14 yrs for females. A total 24% of patients had never smoked. The histopathological diagnoses were usual interstitial pneumonia (UIP) (n=59), nonspecific interstitial pneumonia (NSIP) (n=7), desquamative interstitial pneumonia (n=3) and acute interstitial pneumonia (n=11). Clinical and functional characteristics of the two main histological subgroups of UIP and NSIP showed significantly older patients in the UIP group and a significantly lower mean forced expiratory volume in one second (FEV1) in the NSIP group. Median survival for UIP was 78 months compared with 178 months for NSIP. No survival difference between treated and untreated patients with UIP was found. Multivariate analysis revealed smoking alone to be predictive of poorer survival. This study demonstrates the best median survival for usual interstitial pneumonia of available series and confirms a survival difference between usual interstitial pneumonia and nonspecific interstitial pneumonia. Furthermore, the reported results may have implications for treatment timing using conventional protocols currently recommended.


Subject(s)
Lung Diseases, Interstitial/mortality , Lung Diseases, Interstitial/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Biopsy , Cyclophosphamide/therapeutic use , Cyclosporine/therapeutic use , Female , Humans , Immunosuppressive Agents/therapeutic use , Lung Diseases, Interstitial/drug therapy , Male , Middle Aged , Multivariate Analysis , Steroids/therapeutic use , Survival Analysis
16.
Int J Clin Pract ; 55(10): 729-30, 2001 Dec.
Article in English | MEDLINE | ID: mdl-11777306

ABSTRACT

Massive haemoptysis may arise as a result of lung malignancy. This case represents the first report of an ovarian granulosa cell tumour metastasising many years after initial tumour resection to the lung causing life-threatening haemoptysis. The management and subsequent clinical course of the patient are discussed as well as the natural history of granulosa-theca cell tumours.


Subject(s)
Granulosa Cell Tumor/secondary , Hemoptysis/etiology , Lung Neoplasms/secondary , Ovarian Neoplasms , Aged , Female , Granulosa Cell Tumor/complications , Humans , Lung Neoplasms/complications
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