Karlien Dhondt

Abnormal Sleep Architecture and Refractory Nocturnal Enuresis

PURPOSE The relation between sleep and nocturnal enuresis has been an area of discussion for many years. Children with enuresis are generally believed to have sleep that is too deep with decreased arousability. We investigated sleep characteristics in children with refractory nocturnal enuresis. MATERIALS AND METHODS Nine girls and 20 boys between 5 and 19 years old (mean +/- SD age 12.1 +/- 2.7) diagnosed with desmopressin dependent (14) and/or resistant (15) nocturnal enuresis and nocturnal polyuria underwent a standardized investigation protocol, including 1 night of polysomnography. Two age groups of 4 boys and 2 girls 5 to 9 years old, and 16 boys and 7 girls 10 to 19 years old were compared to previously defined controls, including 5 boys and 2 girls 5 to 9 years old and 7 boys and 2 girls 10 to 19 years old. Five to 9 and 10 to 19-year-old controls had a mean of 4.2 +/- 1.5 and 3.3 +/- 0.6 periodic limb movements per hour of sleep, respectively. The total number of arousal-awakenings during sleep was 21.6 +/- 8.1 at ages 5 to 9 years and 21.7 +/- 12.8 at ages 10 to 19. RESULTS All except 1 patient had greater than 5 periodic limb movements per sleep hour. The younger and older age groups had a mean of 18.6 +/- 5.7 and 18 +/- 7.8 periodic limb movements per sleep hour, respectively. Total arousal-awakenings were also increased at 86.7 +/- 58.1 and 73.8 +/- 34.8, respectively. Statistical differences were calculated with the Mann-Whitney U test in controls vs the study population for periodic limb movements and in the 2 age groups for arousal-awakening (p = 0.003 and <0.001, respectively). CONCLUSIONS Preliminary data indicate a high incidence of periodic limb movements in sleep at night in children with refractory nocturnal enuresis and increased cortical arousability, leading to awakening.

Sleep fragmentation and increased periodic limb movements are more common in children with nocturnal enuresis.

To determine sleep fragmentation in children with nocturnal enuresis (NE).

Anti-NMDA-receptor encephalitis in a 3 year old patient with chromosome 6p21.32 microdeletion including the HLA cluster

Anti-NMDA-receptor encephalitis was initially described as a paraneoplastic disorder in young women with ovarian teratoma. We report on a 3-year-old boy who developed anti-NMDA-receptor encephalitis one month after a respiratory infection. Moreover, array-comparative genomic hybridization in this patient revealed an inherited microdeletion in chromosomeband 6p21.32, including the HLA-DPB1 and HLA-DPB2 genes. The clinical relevance of this microdeletion is discussed.

Sleep fragmentation and periodic limb movements in children with monosymptomatic nocturnal enuresis and polyuria

BackgroundChildren with nocturnal enuresis (NE) have been found to have sleep fragmentation and a high incidence of periodic limb movements in sleep (PLMS). This study explored the association of monosymptomatic NE and polyuria in relation to fluid intake, bladder volume, number of wet nights, and number of nights with polyuria to the frequency of PLMS and cortical arousals during sleep.Materials and methodsThirty children with monosymptomatic NE and polyuria were enrolled in the study. Enuretic parameters were determined by diaries, forced drinking, uroflow, and ultrasound examination. All subjects participated in one polysomnographic study. The number of cortical arousals and PLMS were compared with those recorded in a former pilot study which included only children with refractory NE.ResultsOf the 30 children who participated in the study, the mean age was 10.43 ± 3.08 (range 6–16) years, and 23 were boys. The PLMS index was positively associated with the arousal index and the awakening index (p < 0.001). No significant association between the sleep and the enuretic parameters was found. Children with refractory NE showed a significantly higher PLMS index (p < 0.001).ConclusionsWe found that PLMS and cortical arousals in sleep were increased in children with monosymptomatic NE and polyuria, without a significant association with the enuretic parameters. These observations suggest the presence of a comorbid mechanism driven by a common, independent pacemaker. We hypothesize the autonomic system, its sympathetic branch, and the dopaminergic system as candidates for this pacemaker.

Childhood narcolepsy with partial facial cataplexy: a diagnostic dilemma.

Sixteen percent of adults ultimately diagnosed with having narcolepsy/cataplexy experienced symptoms before the age of ten years, 4.5% even before the age of five years. The symptomatology in childhood narcolepsy/cataplexy can differ significantly from adults and can lead to misinterpretations and misdiagnosis. Standard diagnostic tools (polysomnography and multiple sleep latency test) can give false negative results and do not exclude the disorder. The decision to determine hypocretins in cerebrospinal fluid (CSF) should be made as early as possible in children. Here, we present a case of a five-year-old girl with acute onset of narcolepsy/cataplexy after a closed head trauma. The first symptoms were excessive daytime sleepiness, partial facial cataplexy and a serious behavioral disorder. Hypocretin-1 level (Hrt-1) in CSF was undetectable.

Neuropsychological functioning related to specific characteristics of nocturnal enuresis

INTRODUCTION/BACKGROUND There is a high comorbidity demonstrated in the literature between nocturnal enuresis and several neuropsychological dysfunctions, with special emphasis on attention deficit hyperactivity disorder (ADHD). However, the majority of the psychological studies did not include full non-invasive screening and failed to differentiate between monosymptomatic nocturnal enuresis (MNE) and non-MNE patients. OBJECTIVE The present study primarily aimed to investigate the association between nocturnal enuresis and (neuro)psychological functioning in a selective homogeneous patient group, namely: children with MNE and associated nocturnal polyuria (NP). Secondly, the study investigated the association between specific characteristics of nocturnal enuresis (maximum voided volume, number of wet nights and number of nights with NP) and ADHD-inattentive symptoms, executive functioning and quality of life. STUDY DESIGN The psychological measurements were multi-informant (parents, children and teachers) and multi-method (questionnaires, clinical interviews and neuropsychological testing). RESULTS Thirty children aged 6-16 years (mean 10.43 years, SD 3.08) were included. Of them, 80% had at least one psychological, motor or neurological difficulty. The comorbid diagnosis of ADHD, especially the predominantly inattentive presentation, was most common. According to the teachers, a low maximum voided volume (corrected for age) was associated with more attention problems, and a high number of nights with NP was associated with more behaviour-regulation problems. No significant correlations were found between specific characteristics of enuresis and quality of life. Details are demonstrated in Table. DISCUSSION The children were recruited from a tertiary referral centre, which resulted in selection bias. Moreover, NP was defined as a urine output exceeding 100% of the expected bladder capacity for age (EBC), and not according to the expert-opinion-based International Childrens Continence Society norm of 130% of EBC. The definition for NP of a urine output exceeding 100% of the EBC is more in line with the recent findings of the Aarhus group. CONCLUSIONS For children with MNE and associated NP, a high comorbidity with the predominantly inattentive presentation of ADHD was demonstrated. Children experienced problems with daytime functioning in relation to their wetting problem at night. According to the teachers, a low maximum voided volume was associated with more attention problems, and a high number of nights with NP was associated with more behaviour-regulation problems. Although comorbidity is still the appropriate word to use, the observation favours a more complex pathogenesis of enuresis with a common pathway in the central nervous system, including: neurotransmitters, influencing neuropsychological functioning as well as sleep, circadian rhythm of diuresis and bladder function control.

Desmopressin (melt) therapy in children with monosymptomatic nocturnal enuresis and nocturnal polyuria results in improved neuropsychological functioning and sleep

BackgroundThere is a high comorbidity between nocturnal enuresis, sleep disorders and psychological problems. The aim of this study was to investigate whether a decrease in nocturnal diuresis volume not only improves enuresis but also ameliorates disrupted sleep and (neuro)psychological dysfunction, the major comorbidities of this disorder.MethodsIn this open-label, prospective phase IV study, 30 children with monosymptomatic nocturnal enuresis (MNE) underwent standardized video-polysomnographic testing and multi-informant (neuro)psychological testing at baseline and 6 months after the start of desmopressin treatment in the University Hospital Ghent, Belgium. Primary endpoints were the effect on sleep and (neuro)psychological functioning. The secondary endpoint was the change in the first undisturbed sleep period or the time to the first void.ResultsThirty children aged between 6 and 16 (mean 10.43, standard deviation 3.08) years completed the study. The results demonstrated a significant decrease in periodic limb movements during sleep (PLMS) and a prolonged first undisturbed sleep period. Additionally, (neuro)psychological functioning was improved on several domains.ConclusionsThe study demonstrates that the degree of comorbidity symptoms is at least aggravated by enuresis (and/or high nocturnal diuresis rate) since sleep and (neuro)psychological functioning were significantly ameliorated by treatment of enuresis. These results indicate that enuresis is not such a benign condition as has previously been assumed.

ICI‐RS 2015—Is a better understanding of sleep the key in managing nocturia?

Nocturia, or waking up at night to void, is a highly prevalent and bothersome lower urinary tract symptom. However, the applied treatment modalities do not improve symptoms in about half of the patients. The aim of this report is to generate new ideas for future nocturia research, with special emphasis on the role of sleep physiology and sleep disorders.

Hypocretin-1 Deficiency in a Girl With ROHHAD Syndrome

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and complex pediatric syndrome, essentially caused by dysfunction of 3 vital systems regulating endocrine, respiratory, and autonomic nervous system functioning. The clinical spectrum of ROHHAD is broad, but sleep/wake disorders have received relatively little attention so far, although the central hypothalamic dysfunction would make the occurrence of sleep symptoms likely. In this case report, we expand the phenotype of ROHHAD with a number of striking sleep symptoms that together can be classified as a secondary form of narcolepsy. We present a 7-year-old girl with ROHHAD who displayed the classic features of narcolepsy with cataplexy: excessive daytime sleepiness with daytime naps, visual hallucinations, and partial cataplexy reflected in intermittent loss of facial muscle tone. Nocturnal polysomnography revealed sleep fragmentation and a sleep-onset REM period characteristic for narcolepsy. The diagnosis was confirmed by showing an absence of hypocretin-1 in the cerebrospinal fluid. We discuss potential pathophysiological implications as well as symptomatic treatment options.

Psychological functioning in adolescents referred to specialist gender identity clinics across Europe: a clinical comparison study between four clinics

Adolescents seeking professional help with their gender identity development often present with psychological difficulties. Existing literature on psychological functioning of gender diverse young people is limited and mostly bound to national chart reviews. This study examined the prevalence of psychological functioning and peer relationship problems in adolescents across four European specialist gender services (The Netherlands, Belgium, the UK, and Switzerland), using the Child Behavioural Checklist (CBCL) and the Youth Self-Report (YSR). Differences in psychological functioning and peer relationships were found in gender diverse adolescents across Europe. Overall, emotional and behavioural problems and peer relationship problems were most prevalent in adolescents from the UK, followed by Switzerland and Belgium. The least behavioural and emotional problems and peer relationship problems were reported by adolescents from The Netherlands. Across the four clinics, a similar pattern of gender differences was found. Birth-assigned girls showed more behavioural problems and externalising problems in the clinical range, as reported by their parents. According to self-report, internalising problems in the clinical range were more prevalent in adolescent birth-assigned boys. More research is needed to gain a better understanding of the difference in clinical presentations in gender diverse adolescents and to investigate what contextual factors that may contribute to this.