Loeys-Dietz syndrome is a recently recognized connective tissue disorder characterized by severe craniofacial and skeletal abnormalities as well as arterial tortuosity with aggressive aneurysm formation. Marfan syndrome, a classic connective tissue disorder, is known to be associated with a risk of obstructive sleep apnea, but sleep-related breathing disorders have not been previously documented in Loeys-Dietz syndrome. The propositus had the prototypic features of Loeys-Dietz syndrome with a de novo mutation in TGFBR2. He developed severe obstructive sleep apnea during his infancy. Continuous positive airway pressure was introduced at age 7 years and provided significant improvement in his nocturnal apnea and sleep apnea-related symptoms, such as enuresis. Marfan syndrome is known to be associated with a high risk of sleep apnea because of its characteristic craniofacial and connective tissue abnormalities. Similarly, the severe craniofacial abnormalities in Loeys-Dietz syndrome may predispose patients to severe obstructive sleep apnea, even at a very young age. Despite the severity of obstructive sleep apnea in the propositus, the administration of continuous positive airway pressure was highly effective in alleviating his symptoms. In summary, severe obstructive sleep apnea was successfully treated using continuous positive airway pressure in a patient with Loeys-Dietz syndrome. Careful evaluation and aggressive intervention for the alleviation of obstructive sleep apnea is warranted in Loeys-Dietz syndrome. © 2013 Wiley Periodicals, Inc.

OBJECTIVE:

This study reports the incidence of enuresis and encopresis among children with attention-deficit/hyperactivity disorder (ADHD) versus those without ADHD.

METHODS:

Subjects included 358 children (74.5% boys) with research-identified ADHD from a 1976 to 1982 population-based birth cohort (n = 5718) and 729 (75.2% boys) non-ADHD control subjects from the same birth cohort, matched by gender and age. All subjects were retrospectively followed from birth until a diagnosis of enuresis or encopresis was made or last follow-up before 18 years of age. The complete medical record for each subject was reviewed to obtain information on age of initial diagnosis of an elimination disorder, frequency and duration of symptoms, and identification of exclusionary criteria specified by DSM-IV, with confirmation of the diagnosis by expert consensus.

RESULTS:

Children with ADHD were 2.1 (95% confidence interval [CI], 1.3-3.4; P = .002) times more likely to meet DSM-IV criteria for enuresis than non-ADHD controls; they were 1.8 (95% CI, 1.2-2.7; P = .006) times more likely to do so than non-ADHD controls when less stringent criteria for a diagnosis of enuresis were employed. Though not significant, children with ADHD were 1.8 (95% CI, 0.7-4.6; P = .23) times more likely to meet criteria for encopresis than non-ADHD controls. The relative risk was 2.0 (95% CI, 1.0-4.1; P = .05) when a less stringent definition for encopresis was utilized.

CONCLUSIONS:

Children with ADHD are more likely than their peers without ADHD to develop enuresis with a similar trend for encopresis.

Primary nocturnal enuresis is a prevalent childhood condition that can persist into adulthood. Desmopressin is an antidiuretic available as orally disintegrating lyophilisate (melt) or solid tablet. Recent findings suggesting different food interactions and clinical characteristics, including compliance, between desmopressin melt and tablet motivated a post hoc analysis of a previously reported randomised, crossover study. The efficacy of desmopressin melt compared with tablet was evaluated using the International Children's Continence Society (ICCS) responder definitions. Compliance was further analysed using detailed criteria, and the association between efficacy and compliance was examined. In total, 221 patients aged 5-15 years, already receiving desmopressin tablets were randomised to the treatment sequence melt (120/240 μg)/tablet (0.2/0.4 mg) or tablet/melt in two consecutive 3-week periods. The probability of being a responder (partial or full) during either period was significantly more likely with desmopressin melt compared with tablet (odds ratio, 2.0; confidence intervals, 1.07-3.73; p = 0.03). There was no period effect on compliance in the tablet/melt sequence and no difference in the number of completely compliant patients in each formulation group; however, more patients were >75 % compliant in period 1 compared with period 2 in the melt/tablet sequence. Increased compliance was associated with greater reductions in the number of wet nights for both formulations.

Conclusions:

Desmopressin melt, compared with tablet, improves the probability of being a responder. Switching from tablet to melt formulation increased patient compliance. Increased compliance was associated with increased efficacy. Switching to desmopressin melt may benefit patients with suboptimal responses to desmopressin tablet.

OBJECTIVE:

Dilutional hyponatremia is a serious adverse effect of desmopressin, a vasopressin analog that is widely prescribed to manage monosymptomatic enuresis. The presentation of hyponatremia, largely related to cerebral dysfunction, can include severe signs like altered mental status and seizures.

METHODS:

We reviewed the literature dealing with altered mental status or seizures in enuretic subjects on desmopressin. The retained publications included patients who were described individually, revealing data on mode of administration, further identifiable factors predisposing to hyponatremia, presentation and clinical course.

RESULTS:

We found 54 cases of hyponatremia secondary to desmopressin treatment presenting with altered mental status or seizures. In most cases the complication developed 14 days or less after starting desmopressin. An intranasal formulation had been used in 47 patients. Excess fluid intake was documented as a contributing factor in at least 22 cases. In 6 cases severe signs of hyponatremia developed in the context of intercurrent illnesses.

CONCLUSION:

Altered mental status or seizures are very rare but recognized complications of desmopressin in enuresis. This complication mostly develops in subjects managed with the intranasal formulation 14 days or less after starting the medication, following excess fluid intake and during intercurrent illnesses.

OBJECTIVE:

To better understand parental beliefs regarding the etiology and treatment of nocturnal enuresis (NE).

METHODS:

A self-administered survey queried parental NE beliefs including perceived etiologies and home behavioral treatments. We assessed for associations between demographic characteristics and propensity to seek medical care for NE.

RESULTS:

Of 216 respondents, 78% were female. The most common causes for NE reported were: deep sleeper (56%), unknown (39%), and laziness (26%). Popular home behavioral therapies included: void prior to sleep (77%) and limiting fluid intake at night (71%). Few reported they would use a bedwetting alarm (6%). Fifty-five percent reported they would seek medical care for NE and 28% reported awareness of effective treatments. On multivariable analysis, females (OR 2.3, 95% CI 1.04-5.0) and those with graduate level education (OR 4.8, 95% CI 1.5-15.7) were more likely to seek medical care for their child with NE.

CONCLUSIONS:

General parental knowledge of the causes and effective treatments for NE is lacking. Only 55% reported they would seek medical care for their child with NE and only 28% reported awareness of effective treatments. Counseling should focus on dispelling common misconceptions about causes and treatments of NE and focus on proven effective treatments.

Several therapeutic options have been described for children with nocturnal enuresis, but still their efficacy and outcomes are controversial. This study compares the combined Desmopressin and Tolterodine efficacy versus Desmopressin alone efficacy in the treatment of nocturnal enuresis. One hundred children 5-16 years old with nocturnal enuresis were enrolled in a randomized trial study and were assigned to two equal groups. In a double-blind manner, we used 2 mg of Tolterodine tablet plus 20  μ g of nasal Desmopressin in group A and 20  μ g of nasal Desmopressin plus placebo in group B. The two groups were matched for age and sex (P = 0.547, P = 0.414). The mean number of the wet nights was reduced in both groups (P < 0.001, P < 0.001). Upon ICCS scoring in the Tolterodine + Desmopressin group, 27 (54%) had full response, 17 (34%) had partial response, and 5 (10%) had an unsuccessful outcome. In the Desmopressin + placebo group, 17 (34%) had full response, 23 (46%) had partial response, and 10 (20%) had an unsuccessful outcome. The response in the Tolterodine + Desmopressin group was significantly higher (P = 0.049). Regarding the results, combined Tolterodine plus Desmopressin is slightly more effective than monotherapy.

Primary nocturnal enuresis (PNE) is a common problem in developmental age with an estimated overall prevalence ranging from 1.6% to 15%, and possible persistence during adolescence. There is a growing interest in the sleep habits of children affected by PNE, which is derived from the contradictory data present in clinical literature. The aim of the present study was to evaluate the presence of sleep disturbances in a population of children affected by PNE, and to identify whether PNE could be considered as a risk factor for sleep disturbances among children.A total of 190 PNE children (97 males, 93 females) aged 7-15 years, (mean 9.64 ± 1.35 years), and 766 typically developing children matched for age (P = 0.131) and gender (P = 0.963) were enrolled. To evaluate the presence of sleep habits and disturbances, all of the subjects' mothers filled out the Sleep Disturbances Scale for Children (SDSC), a questionnaire consisting of six subscales: Disorders in Initiating and Maintaining Sleep (DIMS), Sleep Breathing Disorders (SBD), Disorders of Arousal (DA), Sleep-Wake Transition Disorders (SWTD), Disorders of Excessive Somnolence (DOES), and Nocturnal Hyperhidrosis (SHY). The results were divided into "pathological" and "normal" scores using a cut-off value (pathological score = at least three episodes per week), according to the validation criteria of the test. Then, the Chi-square test was used to calculate the statistical difference and a univariate logistic regression analysis was applied to determine the role of PNE as a risk factor for the development of each category of sleep disorders and to calculate the odds ratio (OR).PNE children show a higher prevalence of all sleep disturbances (41.03% DIMS; 85.12% SBD; 63.29% DA; 67.53% SWTD; 31.28% DOES; 37.92% SHY; 25.33% SDSC total score), and according to OR results (SDSC total score OR = 8.293, 95% confidence interval [CI] = 5.079-13.540; DIMS OR = 7.639, 95% CI = 5.192-11.238; SBD OR = 35.633, 95% CI = 22.717-55.893; DA OR = 13.734, 95% CI = 9.476-19.906; SWTD OR = 14.238, 95% CI = 9.829-20.625; DOES OR = 5.602, 95% CI = 3.721-8.432; SHY OR = 6.808, 95% CI = 4.608-10.059), PNE could be considered as a risk factor for the development of sleep disorders.Among PNE children, sleep could be strongly altered, thus helping to affirm the hypothesis that PNE tends to alter sleep architecture, or it could itself be the consequence of an abnormal sleep structure. The findings also point to the existence of a potential increase in the risk of developing sleep disorders in the presence of PNE.

The prevalence of vesicoureteral reflux (VUR) is higher in enuretic children than in non-enuretic children. Recent studies have reported VUR in 6-23% of children with enuresis.To clarify the association of nocturnal enuresis with vesicoureteral reflux (VUR) and to identify children who are at risk for VUR.During 2007-2009, neurologically normal children who were referred with a chief complaint of nocturnal enuresis and had abnormal renal ultrasonography (US) results, daytime incontinence, abnormal results in urodynamic studies, urinary tract infection, or a history of VUR in their siblings were prospectively evaluated for VUR by voiding cystourethrography (VCUG).A total of 60 children (26 boys and 34 girls) aged 5-17 (mean ± SD: 8.46 ± 2.45) years met the inclusion criteria and were enrolled in the study. Twenty-eight (46.7%) patients had mono-symptomatic nocturnal enuresis (MNE), and 32 (53.3%) had non-mono symptomatic nocturnal enuresis (NMNE). VUR was reported in 10 (16.7%) patients and posterior urethral valve (PUV) was found in 1 (1.7%) patient. The prevalence of VUR was significantly higher in patients with daytime incontinence and in girls (P = 0.016 and 0.003 respectively). We did not find any significant correlations between VUR and the form of enuresis (primary versus secondary), urinary tract infection, or any diurnal urinary symptoms other than daytime incontinence (P > 0.05 for all). of 10 renal scintigrams, 5 (50%) showed renal cortical defects.VUR is uncommon in children with MNE and in those with NMNE who do not wet themselves during the day; however, it is a relatively common finding in enuretic children who have daytime incontinence. We recommend VCUG in all enuretic children who have daytime incontinence.