Nocturnal enuresis in children]

After allergic disorders, nocturnal enuresis is the most common chronic childhood condition. Recent research has yielded abundant new knowledge about the condition, especially about its aetiology and pathophysiology, and the psychological consequences. A hereditary background has been substantiated by the identification in genetic linkage studies of areas in chromosomes 12 and 13 that are manifestly associated with bedwetting, though genotype expression in the phenotype appears to be complex and heterogeneous. Pathophysiologically, findings in current intensive research suggest three interactive factors to be involved: (i) relative nocturnal polyuria, due to insufficient antidiuretic hormone release during sleep in pre-teenagers, and due to renal tubular dysfunction in adolescents and adults; (ii) reduced nocturnal bladder capacity, especially in the 33 per cent of cases which do not respond to desmopressin treatment; and (iii) the patient's inability to waken in response to signals from a full bladder. Recent findings have also confirmed previous reports that with very few exceptions bedwetting is not caused by psychological factors. On the contrary, the condition causes psychological problems manifested in reduced self-esteem, shame and guilt, though self-esteem is restored by successful treatment. Active treatment should be started as soon as the child is ready to receive it, the main options being an enuresis alarm, desmopressin, or a combination of the two. If reduced bladder capacity is suspected, treatment with a detrusor relaxant should be included.     

Pathophysiology and impact of nocturnal enuresis

Nocturnal enuresis in children is not a psychogenic disorder. It is caused by a hereditary delay in maturation of the somatic mechanisms (reduction of nocturnal urine production and a normal arousal to a full bladder) which prevent the child from wetting the bed. Traditionally, doctors treating bedwetting children have used an expectant attitude, because nocturnal enuresis has been looked upon as self-limiting and harmless. According to recent research this is not true. More than 5% of children and 0.5% of the adult population report nocturnal enuresis, meaning that 10% of enuretic children will remain bedwetters for life if left untreated, and nocturnal enuresis is perceived as a shameful condition, giving a significant impairment of self-esteem at an age when an intact self-image is extremely important for an optimal development of the child's personality. Treatment should be given when the enuretic child wants to sleep dry.     

Enuresis nocturna--neu studies of genetic, pathophysiologic and psychiatric correlations

Nocturnal enuresis is characterized by a highly complex interaction of somatic and psychiatric factors. A primary monosymptomatic, a symptomatic (with diurnal rnicturition problems) and a secondary form (following a dry interval) can be differentiated. Despite deep sleep with difficult arousal, the sleep architecture itself is normal and enuretic episodes occur in every sleep stage without urodynamic changes. Changes in the circadian AVP-rhythm with nocturnal polyuria have been demonstrated repeatedly. Formal genetically, many families are compatible with an autosomal dominant mode of inheritance. Linkage studies have shown a linkage of nocturnal enuresis with regions on chromosomes Nr. 8, 12 and 13. There is a significantly increased rate of psychiatric problems. The associations are complex, with psychiatric factors occurring both reactively following the enuresis, as well as being causally involved in secondary, but not in primary monosymptomatic nocturnal enuresis.     

Model compounds in elucidating the structural basis of HIV retrovirus activity. Synthesis of trisodium O-monoalkyl- and O-monoaryldiphosphates

OBJECTIVE: To analyse the change of blood pressure and endothelin in sleep apnea syndrome. METHODS: The ambulatory blood pressure, echocardiogram and plasma endothelin in 164 cases of hypertension and normal controls with or without sleep apnea syndrome (SAS) were examined. The patients were divided into four groups and 41 cases were in each group. RESULTS: The results showed that in a number of the patients of sleep apnea with or without hypertension blood pressure day nocturnal rhythm disappeared and endothelin increased (18.2 +/- 5.7 ng/L and 13.2 +/- 4.4 ng/L) The difference of nocturnal blood pressure and endothelin between SAS groups and non-SAS groups (11.7 +/- 3.9 ng/L and 4.3 +/- 2.1 ng/L) were statistically significant (P < 0.05 and P < 0.01). CONCLUSION: It was suggested that the SAS patients might be due to cyclical hypoxemia and nerve-endocrine abnormality activating endothelin, and other vasoactive peptides with increased blood pressure during sleep and enhance the damage to target organs.     

Acute von Willebrand factor secretion from the endothelium in vivo: assessment through plasma propeptide (vWf:AgII) Levels

STUDY OBJECTIVES: Patients with coronary heart disease (CHD) and obstructive sleep apnea may have an increased cardiac risk due to nocturnal myocardial ischemia triggered by apnea-associated oxygen desaturation. Sleep structure in patients with obstructive sleep apnea is fragmented by activation of the central nervous system (CNS) (arousal) due to obstructive apneas. Nocturnal myocardial ischemia may lead to activation of the CNS as well. PATIENTS: Fourteen patients with obstructive sleep apnea and CHD disease and seven patients suffering from obstructive sleep apnea without CHD were studied. Overnight sleep studies and simultaneous six-lead ECG recordings were performed. In addition, sleep studies and ECG recordings were performed with administration of a sustained-release nitrate in these patients in a double-blinded crossover design. RESULTS: Analysis of three nights' recordings revealed 144 episodes of nocturnal myocardial ischemia in six subjects. Five patients had underlying CHD and one patient exhibited diffuse wall defects of the coronary arteries; also, 85.4% of ischemic episodes were concomitant with apneas and oxygen desaturation > 3%, and 77.8% of ischemic episodes occurred during rapid eye movement (REM) sleep, although total amount of REM sleep was only 18% of total sleep time. Mean oxygen saturation was significantly lower (p < 0.05) during apnea-associated ischemic episodes than during nonapnea-associated ischemia (77.3% vs 93.1%). Nitrate administration did not reduce ischemic episodes. Sleep architecture (macrostructure) exhibited a reduction in sleep stages non-REM 3 and 4 and REM sleep. Comparing the microstructure of sleep (arousals) within episodes with and without ischemia but similar criteria like sleep stage, apnea activity, and oxygen saturation, we found significantly more (p < 0.01) and severe (p < 0.001) arousals during periods with myocardial ischemia than during control episodes. In addition, microstructure of sleep was disturbed by myocardial ischemia itself in absence of apneas. CONCLUSION: It is concluded that patients with CHD and obstructive sleep apnea are endangered by apnea-associated ischemia and that these ischemic episodes lead to activation of the CNS and additional fragmentation of sleep. Patients with nocturnal ischemia should be screened for underlying sleep apnea even if nitrate therapy fails.     

Chronic headaches and sleep disorders

BACKGROUND: Headaches and sleep problems are common complaints in the daily practice of the general practitioner. Since the relationship between headaches and sleep complaints is complex, clear models of interaction are needed for adequate diagnosis and treatment. METHODS: All subjects, successively seen in a headache clinic during a defined period, were subdivided based on the time of onset of cephalalgia. Subjects who reported onset of headache on a long-term basis, during the nocturnal or early morning (before final awakening) period, were systematically studied by a headache clinic and a sleep disorders center. This subgroup represented 17% of the total headache group. RESULTS: Although the results of the headache clinic study did not differentiate this subgroup from the other patients, the sleep disorders center's interviews and questionnaires demonstrated a significant impact of the sleep disorders on headache and daytime function. Nocturnal monitoring during sleep identified specific sleep disorders in 55% of the subjects with onset of headache during the nocturnal sleep period. Follow-up after treatment of the sleep disorder showed that all subjects with an identifiable sleep disorder reported either an improvement or absence of their headache. The subjects identified with periodic limb movement syndrome were mostly those who reported only an improvement in their sleep and still needed treatment for their headaches. The question of the interaction and association of sleep-related headache and periodic limb movement syndrome is unresolved. CONCLUSION: Headaches occurring during the night or early morning are often related to a sleep disturbance.     

Cardiac arrhythmias in sleep apnea. Increased cardiovascular risk caused by nocturnal arrhythmia?

In sleep-disordered breathing (SDB), the greatest clinical relevance attaches to obstructive sleep apnea on account of its high prevalence and its concomitance with diseases of the cardiovascular system. The high mortality rate of untreated patients is believed to be due to the consequences of these latter diseases. Thus, for example, in addition to systemic arterial hypertension, elevated rates of such disorders as pulmonary hypertension, right heart insufficiency, coronary heart disease, myocardial infarction and stroke are also found. Up until quite recently bradycardic and tachycardic arrhythmias occurring during sleep have been held responsible of the increased mortality rate of these patients. Till the mid-eighties the prevalence of bradycardic arrhythmias was reported to be more than 30%. However, the importance of cardiac arrhythmias has been overestimated, as is supported in particular by current studies on large non-selected samples showing a much lower prevalence of apnea-related arrhythmias. In the differential diagnosis, however, consideration must be given to SDB in patients with nocturnal arrhythmias and heart rate variations.     

Effect of prokinetics in children with recurrent nocturnal retrosternal pain

BACKGROUND: Children rarely present with vague complaints of nocturnal recurrent retrosternal or upper-abdominal, epigastric, pain. Dysmotility of the upper gastrointestinal tract, including gastro-oesophageal reflux, might be at the origin of these manifestations. OBJECTIVE: To evaluate the clinical effect of prokinetics (cisapride) in children with recurrent nocturnal retrosternal pain, and to measure the effect of cisapride with a combined oesophageal ambulatory 24 h pH and pressure monitoring. PATIENTS: Twelve children, mean age 9.5 years (range 4.1-14.0 years), with nocturnal recurrent retrosternal pain for more than 6 months, occurring at least three times a week. METHODS: Single-blinded prospective study, with two periods of 2-3 weeks during which cisapride was administered, alternated with two placebo periods of the same duration. Clinical evaluation, and assessment with oesophageal pH and pressure monitoring. RESULTS: Cisapride was related to a temporary relief of the symptoms in 10/12 children. The improvement was demonstrated through a normalization of pH monitoring, and an increase in amplitude and duration of the contractions in the lower oesophagus. CONCLUSION: Cisapride improves complaints of recurrent nocturnal retrosternal pain in children.     

Epileptic aphasia: a consequence of regional hypometabolic encephalopathy?

A series of 25 children, 13 females and 12 males, who had an acquired communication disorder together with epilepsy, but did not fulfil the strict criteria of the Landau-Kleffner syndrome, was studied. All children had a clinical neurological evaluation, speech and language assessment, an awake and sleep EEG, cranial MRI, SPET scan, and audiometry. Clinical seizures were most often polymorphic in type (17 of 25). Atypical absences were the commonest individual seizure type occurring in 15 cases. All patients had an unequivocal epileptiform EEG. Normal sleep phenomena were only observed in 10 cases, enhancement of epileptiform activity in sleep was seen in 16. Cranial MRI was abnormal in six and normal in 19 cases. The SPET scans were abnormal in 22 of 25 children. The language deficits were classified neurologically as receptive aphasia, 24 of 25; expressive aphasia, 20 of 25; nominal aphasia, eight of 25; articulatory dyspraxia, 10 of 25; and auditory agnosia, nine of 25. It is hypothesized that the loss of communication skills is due to an encephalopathy secondary to the persistent epileptic discharge and manifests as a hypometabolic area on the SPET scan.     

Chronic alveolar hypoventilation: a review for the clinician

Chronic alveolar hypoventilation may present in an insidious fashion with nonspecific manifestations. The clinician should be aware of the potential for developing this condition in patients with certain thoracic and systemic diseases. Once chronic alveolar hypoventilation is confirmed with arterial blood gas analysis, a systematic evaluation can often point to the underlying etiology. As sleep in affected individuals is often associated with marked worsening of gas exchange and may also contribute to worsening daytime cardiopulmonary dysfunction, polysomnography is often indicated to determine the severity of nocturnal aberrations and to look for coexistent obstructive sleep apnea. Therapy of chronic alveolar hypoventilation often focuses on elimination of the nocturnal deterioration in gas exchange, and recent applications of noninvasive positive pressure ventilation during sleep have proven useful in the management of individuals with obesity-hypoventilation syndrome, restrictive thoracic disorders, neuromuscular diseases and central causes for hypoventilation. It is unclear whether wide-spread application of nocturnal ventilatory support to patients with chronic ventilatory failure due to chronic obstructive pulmonary disease is of long-term benefit.     

Assessment of family carers

Thirty-four patients who presented with excessive daytime sleepiness (EDS) and who showed an elevated number of periodic leg movements during sleep (PLMS) were studied. None of these patients reported other symptoms or presented sleep laboratory manifestations of narcolepsy or of breathing disorders during sleep. A diagnosis of restless leg syndrome, head trauma or a past history of psychopathology or infectious diseases known to cause EDS were also ruled out. In addition, none of the patients reported a history of drug or alcohol abuse, chronic sleep deprivation or irregular sleep-wake schedule and none were taking medications known to influence sleep at the time of the study. Results of the present study showed no correlation between PLMS index and poor sleep efficiency or daytime sleepiness as measured by the multiple sleep latency test (MSLT). However, a significant negative correlation was found between sleep efficiency at night and the mean sleep latency on the MSLT. These results suggest not only that PLMS and nocturnal sleep disruption are not the primary cause of EDS, but that these sleepy patients have a high propensity to sleep both at night and during the daytime. Therefore, the presence of PLMS during nocturnal sleep recording should not preclude the diagnosis of idiopathic hypersomnia.     

Airborne asbestos in the vicinity of a freeway

Many of the disturbances resulting from dysregulations in the autonomous nervous system of children with cerebral palsy are rarely discussed in the doctor's praxis. Nevertheless, they are causes of trouble and worry for the parents. For this reason we started an inquiry into this matter. Questionnaires were sent to the parents of 452 C.P. patients. 374 were answered with sufficient care. The following factors were evaluated: sleep, bladder and bowel activity, temperature regulation, vomiting, sweating, blood circulation, growth. The C.P. children were compared to their own siblings especially to the next younger ones. The diagnoses were as follows: Spastic tetraplegia 197 patients. Spastic hemiplegia 44 patients, Athetosis 33 patients, Mixed cases of spasticity and athetosis 82 patients, Other 15 patients. The degrees of handicap in terms of motor development were: severe (unability to sit unsupported) 166 cases, moderate (unability to kneel or walk unsupported) 118 cases, mild (ability to kneel and/or walk unsupported) 87 cases. Summarized, the statements of the parents gave the following results: sleep disturbances: 169 cases (46%), constipation: 145 cases (39%), tendency towards temperature dysregulation: 112 cases (30%) , tendency towards increased vomiting: 91 cases (25%), sweating increased or decreased: 110 cases (30%), irregular and frequent voiding of bladder: 92 cases (25%), unstable regulation of blood circulation: 101 cases (27%), cold skin: 264 cases (71%), body-length deficit: 119 cases (32%), low-weight: 177 cases (48%), feet too small for age: 252 cases (68%). Results are related to diagnosis and severeness of handicap. In addition, it is discussed, whether there are relations between several of the investigated factors. The influence of the patients sex is discussed.     

Clinical significance of snoring

Habitual snoring, nocturnal apnea, and excessive daytime sleepiness are leading symptoms of the obstructive sleep apnea syndrome. However, simple snoring without apnea is a more common and normal phenomenon. In certain habitual snorers increased upper airway resistance during sleep may lead to sleep fragmentation and hypersomnolence even in the absence of frank apnea; this condition is termed upper airway resistance syndrome. There is no convincing evidence that snoring in the absence of sleep apnea is an independent risk factor for cardiovascular disease. The evaluation of symptomatic snorers includes a specific history and physical exam, followed by a sleep study if treatment is considered necessary. The choice of treatment modality for snoring is guided by the individual needs and symptoms of the patient. Weight loss, nocturnal application of continuous positive airway pressure, or intraoral appliances which hold the mandible in protrusion during sleep are non-surgical treatment options. According to the patients' subjective assessment conventional or laser-assisted uvulo-palato-pharyngoplasty (UPPP) has a high cure rate for snoring. However, objective documentation of the effect of these interventions on measured snoring noise is scant.     

Rapid cloning of mouse DNA as yeast artificial chromosomes by transformation-associated recombination (TAR)

The purpose of this study is to investigate the count-characteristics of wrist actigraphy in basic human activities and to discuss the agreement of sleep-wake identification between polysomnography (PSG) and wrist actigraphy during nocturnal sleep. There was a distinct distribution of actigraphy counts over the studied activities. The evaluation of sleep-wake scoring using the wrist actigraphy agreed 96.9% with the polysomnographic scoring during nocturnal sleep.     

Hemangioperocytoma in the infant. A histogenetic study]

Two children with hemangiopericytomas are reported-one with a congenital tumor, the second hemangiopericytoma was noticed during the first trimenon. Histologically there was no obvious difference to the hemangiopericytomas in adults. Tumor immaturity should not be seen as a nondifferentiation but as an embryonal immaturity. In analogy to other reticulo-histiocytic proliferations, reticular fibers, shown by silver impregnation, can be demonstrated in both cases. The silver stain should not be over-rated in its diagnostic and prognostic significance.     

Sleep-disordered breathing in children with myelomeningocele

BACKGROUND: Although patients with myelomeningocele and the Chiari II malformation are known to have sleep apnea and respiratory control deficits, the prevalence, types, severities, and associations of sleep-disordered breathing (SDB) have not been adequately defined. METHODS: A cross-sectional study of our myelomeningocele clinic population was undertaken to correlate polysomnographic results with historical data and findings from magnetic resonance imaging of the Chiari malformation, pulmonary function results, and nocturnal pulse oximetry. RESULTS: A questionnaire survey of symptoms was available for 107 of 109 children (98% of the clinic population), and 83 patients agreed to undergo overnight polysomnography. Breathing during sleep was classified as normal in 31 cases (37%), mildly abnormal in 35 cases (42%), and moderately/severely abnormal in 17 cases (20%). Among the 17 patients with moderately/severely abnormal SDB, 12 patients had predominantly central apneas and 5 had predominantly obstructive apnea. Patients with a thoracic or thoracolumbar myelomeningocele, those who had previously had a posterior fossa decompression operation, those with more severe brain-stem malformations, and those with pulmonary function abnormalities were more likely to have moderately/severely abnormal SDB, relative risks (95% confidence intervals) 9.2 (2.9 to 29.3), 3.5 (1.3 to 8.9), 3.0 (0.9 to 10.5), and 11.6 (1.6 to 81.3), respectively. Failure of obstructive SDB to resolve after adenotonsillectomy in four patients suggested abnormal control of pharyngeal airway patency during sleep. Nocturnal pulse oximetry accurately predicted moderately/severely abnormal SDB with a sensitivity of 100% and a specificity of 67%. CONCLUSIONS: The pathogenesis of SDB in patients with myelomeningocele involves the functional level of the spinal lesions, congenital and acquired brainstem abnormalities, pulmonary function abnormalities, disorders of upper airway maintenance, and sleep state. Polysomnography and nocturnal pulse oximetry should be performed in high-risk patients to detect and classify SDB.     

REM sleep behaviour disorder: an overview

REM sleep behaviour disorder (RSBD) is a recently described parasomnia characterised by a history of excessive nocturnal motor activity and absence of muscle atonia during REM sleep. Only limited literature is available on this condition. The exact prevalence is unclear, but recent studies suggest it might not be an uncommon condition. The elderly are more often affected and there is a male preponderance. While transient RSBD can be seen after taking certain drugs or during drug withdrawal, the chronic type is usually idiopathic or associated with an underlying degenerative neurological condition. It can result in considerable distress and/or serious injury to the patients or their bed partners. Differential diagnoses include sleep-walking, night terrors, nightmares, nocturnal seizures, obstructive sleep apnoea, post-traumatic stress disorder, dissociative states and nocturnal confusional states. The dramatic response to clonazepam highlights the importance of recognition and appropriate treatment of this sleep disorder.     

Treatment of nocturnal periodic hypoxemia with safrazine hydrochloride in a patient with Duchenne muscular dystrophy under nasal intermittent positive pressure ventilation

Nocturnal periodic hypoxemia occurring in a 25-year-old Duchenne muscular dystrophy patient under NIPPV control was successfully treated with monoamine oxydase inhibitor (MAOI), safrazine hydrochloride. Five mg of safrazine hydrochloride was administered before sleep, and the periodic hypoxemia disappeared within 14 days. The effect lasted almost seven months without notable side effect. MAOI may be effective for nocturnal hypoventilation through suppression of REM sleep as in the case of tricyclic antidepressants. The effect of tricyclic antidepressants appears immediately. However, it usually fades away within forty days. Safrazine hydrochloride was effective obviously longer than tricyclic antidepressants. Consequently MAOI may be a hopeful candidate of medication for a treatment of nocturnal periodic hypoxemia in Duchenne muscular dystrophy.     

Behavioural problems in dementia and biochemistry: clinical aspects

OBJECTIVES: Vocal cord abductor paralysis (VCAP) is a life threatening complication which may cause nocturnal sudden death in patients with multiple system atrophy. However, the early diagnosis of VCAP is often difficult to make on routine laryngoscopy performed during wakefulness, as stridor, which is the sole symptom of VCAP in the early stage, develops only during sleep. The aim was to investigate laryngeal dysfunction in patients with multiple system atrophy while awake and asleep. METHODS: Seven patients with multiple system atrophy with nocturnal stridor and five control patients were studied. Vocal cord movement was analysed by laryngoscopy while the patients were awake and also during sleep induced by intravenous diazepam. RESULTS: When awake, for the seven patients with multiple system atrophy normal movement of the vocal cords occurred in three, mild abduction restriction in three, and paradoxical movement in one. When asleep, however, all showed obvious paradoxical movement with high pitched inspiratory stridor. In controls, there were no differences in the vocal cord movement between wakefulness and sleep. From these findings, VCAP could be divided into four stages: stage 0 (normal) with normal vocal cord movement during both wakefulness and sleep, stage 1 (mild VCAP) with normal movement during wakefulness and paradoxical movement during sleep, stage 2 (moderately severe VCAP) with abduction restriction during wakefulness and paradoxical movement during sleep, and stage 3 (severe VCAP) with an almost midline position for the vocal cords during both wakefulness and sleep. CONCLUSIONS: Laryngoscopy during sleep can disclose subclinical VCAP, making an early diagnosis of VCAP in patients with multiple system atrophy. Stage 2 of VCAP seems to be a suitable stage for tracheostomy in patients with multiple system atrophy.     

Parasomnias in infants below one-year old of age

INTRODUCTION: Certain sleep disorders which occur in children and adults show the same phenomena, although presentation, significance, cause and treatment are all different. However, there are some disorders which are only found in infancy, as in the four conditions which we review below. In spite of great variation between individuals, the general way in which the wakefulness-sleep states mature during the first months of life is well known. In general the physiological patterns of REM and NREM are in general the same in children as in adults. However, the pathological patterns are similar, but there are major differences between them. These differences are mainly physiological, behavioural, parent-child relationship and specific disorders. We shall see that the central alveolar hypoventilation syndrome of infants is not the same as that of adults. The sleep apnea syndrome of the newborn is different to the apneas seen in older children. Benign neonatal myoclonia of sleep are not present in adults, and finally the sudden death of an infant is not like the unexplained nocturnal sudden death or sinus arrest linked to paradoxical sleep in adults.