Study Objectives: To validate a contact-free system designed to achieve maximal comfort during long-term sleep monitoring, together with high monitoring accuracy. Methods: We used a contact-free monitoring system (EarlySense, Ltd., Israel), comprising an under-the-mattress piezoelectric sensor and a smartphone application, to collect vital signs and analyze sleep. Heart rate (HR), respiratory rate (RR), body movement, and calculated sleep-related parameters from the EarlySense (ES) sensor were compared to data simultaneously generated by the gold standard, polysomnography (PSG). Subjects in the sleep laboratory underwent overnight technician-attended full PSG, whereas subjects at home were recorded for 1 to 3 nights with portable partial PSG devices. Data were compared epoch by epoch. Results: A total of 63 subjects (85 nights) were recorded under a variety of sleep conditions. Compared to PSG, the contact-free system showed similar values for average total sleep time (TST), % wake, % rapid eye movement, and % non-rapid eye movement sleep, with 96.1% and 93.3% accuracy of continuous measurement of HR and RR, respectively. We found a linear correlation between TST measured by the sensor and TST determined by PSG, with a coefficient of 0.98 (R = 0.87). Epoch-by-epoch comparison with PSG in the sleep laboratory setting revealed that the system showed sleep detection sensitivity, specificity, and accuracy of 92.5%, 80.4%, and 90.5%, respectively. Conclusions: TST estimates with the contact-free sleep monitoring system were closely correlated with the gold-standard reference. This system shows good sleep staging capability with improved performance over accelerometer-based apps, and collects additional physiological information on heart rate and respiratory rate.

Study Objectives: To evaluate the effects of pediatric epilepsy on sleep in parents of epileptic children. Methods: Cohort design in which the sleep quality of parents of epileptic children (POEC) and parents of nonepileptic children (PONEC) in the month preceding recruitment were compared using the self-administered Pittsburgh Sleep Quality Index (PSQI). Results: Mothers of epileptic children had a 7-fold occurrence of sleep disturbances when compared to mothers of non-epileptic children (OR = 6.66 CI 95% 1.10-70.08). The sleep characteristics that showed statistically signifi cant differences were: sleep duration, sleep continuity, and selfevaluation of sleep quality (p < 0.05 for all parameters). No signifi cant difference in sleep quality was found between fathers of epileptic children and fathers of nonepileptic children. Conclusions: Sleep disturbances are more common in mothers of epileptic children. The sleep quality of mothers to epileptic children should be considered in their comprehensive management, and if necessary, the sleep disturbance should be addressed. S C I E N T I F I C I N V E S T I g A T I O N SE pilepsy is one of the most common chronic clinical problems in the pediatric population, and appears in approximately 0.5% children. As in other chronic pediatric diseases, epilepsy has an appreciable negative impact on the quality of life in the family in general, and the parents in particular.1,2 Furthermore, epilepsy has unique characteristics that contribute to a prolonged adaptive diffi culty of the parent. This includes unpredictable stressful events, social stigma of the child and family, extended treatment regimen subject to frequent changes, and cognitive disturbances accompanying the disease and treatment. Previous research has shown that even in comparison with other chronic pediatric diseases, parents of children with epilepsy suffer from higher rates of stress, anxiety, and depression, which manifest in signifi cant impairment in social, familial, and personal parental functioning. 3,4 Despite the fact that there has been research investigating the effects on the lives of the parents in chronic pediatric disease in general and pediatric epilepsy in particular, there is insuffi cient data on the effects on the sleep quality of the parents, even though this impairment is liable to be accompanied by negative repercussions.Insomnia, which may be a symptom, a sign, or a primary disturbance, is currently defi ned only as a symptom, in the presence of ≥ 1 of 4 characteristics: diffi culty in falling asleep, involuntary early awakening, diffi culty in remaining continually asleep, and unrefreshing sleep. As a syndrome, sleep diffi culties must occur in association with a complaint of impaired daytime functioning (e.g., diminished vocational functioning) and in the presence of adequate opportunity to sleep.For the purpose of this project we decided to use the ICSD-2 general criteria for insomnia that do not specify a frequency and duration for the insomnia symptoms.5 Studies of the pathophys...

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Context The rare syndrome of hypoparathyroidism, retardation, and dysmorphism (OMIM #241410) is caused by the mutated tubulin chaperone E (TBCE) gene. This gene encodes a critical protein in the microtubule assembly pathway. Objective To evaluate the endocrine profile of HRD patients. Methods The study used a retrospective analysis of a large cohort of patients in a single university medical center. Sixty-three patients were diagnosed with HRD during 1990–2019; 58 of them had an endocrine evaluation. Main outcome measures: We investigated somatic growth parameters, the prevalence of hypoglycemia, growth hormone deficiency, hypothyroidism, hypogonadism, and cortisol deficiency. Results All patients were born small for gestational age, and severe growth retardation was found in all patients with mean height SDS of -8.8 (range -5.1 to -15.1) and weight SDS -18 (range -5.1 to -61.2). Serum IGF-1 concentrations were very low among the 21 studied patients: -2.32 SDS (range -0.6 to -2.7). Four out of 14 (28%) investigated patients had growth hormone deficiency. 55% of patients were hospitalized due to symptomatic hypoglycemia. adrenal glucocorticoid insufficiency was diagnosed in 22% of those tested. 36% of patients had hypothyroidism. Both hypogonadotrophic and hypergonadotrophic hypogonadism were observed. The main MRI findings were small anterior pituitary gland, small hippocampus, brain atrophy, thin corpus callosum, Chiari type I malformation, and septo-optic dysplasia. Conclusion Multiple endocrine abnormalities are common in patients with HRD syndrome. Periodic Screening of thyroid and adrenal functions is recommended.

ObjectiveTo analyze and determine the quality of functioning in different components of GHRH-GH-IGF1 axis in children with Down syndrome (DS).DesignSystematic review and mini meta-analysis of the literature.MethodsA search was performed in PubMed, Embase, Scopus, and PsycINFO through August 2022. Eligible studies included pediatric patients with DS who had undergone any laboratory evaluation of the GHRH-GH-IGF1 axis. Two reviewers independently screened articles for eligibility. Results of each type of test were weighed together in patients both with and without DS and were pooled using a random effects meta-analysis.ResultsIn total, 20 studies assessed the GHRH-GH-IGF1 axis function. A defect in three major components of GHRH-GH-IGF1 axis was found in a significant proportion of pediatric DS patients.ConclusionsA significant portion of short-stature pathogenesis in children with DS is associated with impaired GHRH-GH-IGF1 axis function.

BackgroundHypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term morbidity and mortality in a large cohort of HRD patients and suggest recommendations for follow up and treatment.MethodsMedical records of 63 HRD syndrome patients who were followed at Soroka Medical Center during 1989–2019 were reviewed retrospectively. Information regarding demographics, medical complications, laboratory findings, and imaging studies was collected.ResultsThe mortality rate was 52%. The main causes of death were infectious diseases including pneumonia, septic shock, and meningitis. Multiple comorbidities were found including brain anomalies in 90% of examined patients (basal ganglia calcifications, tightening of corpus callosum, Chiari malformation, hydrocephalous, and brain atrophy), seizures in 62%, nephrocalcinosis and/or nephrolithiasis in 47%, multiple eye anomalies were recorded in 40%, bowel obstructions in 9.5%, and variable expression of both conductive and senso-neural hearing loss was documented in 9.5%.ConclusionHRD is a severe multisystem disease. Active surveillance is indicated to prevent and treat complications associated with this rare syndrome.

Introduction Children with a pituitary hormone deficiency are at risk for secondary adrenal insufficiency (AI). A stimulation test is usually performed for diagnosing AI, evaluating both the hypothalamic‐pituitary‐adrenal and growth hormone (GH)‐IGF‐1 axes. This single test is preferred by clinicians and is considerably more tolerable by patients. The objective of this study was to evaluate the glucagon stimulation test (GST), which is commonly used to assess both axes. Its diagnostic capability for GH deficiency is high and well accepted, however its utility for determining secondary AI has not been well established. Methods This retrospective study involved 120 patients under 18 years of age with short stature who had undergone both a GST and low dose ACTH stimulation test (LDACTH test). Twenty‐six children who had more than 6 months elapsed between the two tests were excluded from the study. The study was conducted on patients of the Pediatric Endocrinology Department at Soroka University Hospital, a tertiary medical centre in Beer Sheva, Israel. Statistical analyses were carried out via IBM SPSS (v. 22), with a significance level determined at p < .05. Results Different cortisol cut‐off values were assessed for GST and it was determined that the highest combined sensitivity and specificity yielded a cut‐off point of 320 nmol/L (56% sensitivity and 83% specificity) while the currently accepted cut‐off value (500 nmol/L) yielded 100% sensitivity and 6% specificity. Conclusion The results of this study show that GST is not an optimal tool for diagnosing secondary AI. Therefore, clinicians using this test should interpret its results with caution.

ObjectiveTo analyze and determine the safety and efficacy of growth hormone (GH) treatment in Down syndrome (DS) pediatric patients and to weigh ethical aspects involved.DesignSystematic review and mini meta-analysis of the literature.MethodsA search was performed in PubMed, Embase, Scopus, and PsycINFO through August 2022. Eligible studies included those who answered at least one of the following two questions: 1) What is the effect of growth hormone treatment in children with Down syndrome? 2) What are the ethical arguments in favor and against growth hormone treatment for children with Down syndrome? Multiple reviewers independently screened each article for eligibility.ResultsIn total sixteen reports detailed medical effects of GH treatment in pediatric DS patients and eight studies dealt with ethical aspects of GH treatment. Treatment with GH resulted in significantly higher growth velocity in patients with DS. The ethical complexity is great but does not present insurmountable difficulties to the therapeutic option.ConclusionsAs GH treatment is safe and effective for short-term height growth, GH therapy should be considered in long-term treatment of DS children.