Case report: C1/2 rotational instability progressing to extreme subaxial hyperkyphosis in an adolescent with severe catatonia.

Introduction: Autism spectrum disorder (ASD) is characterized by deficits in social communication, repetitive behaviors, and can be accompanied by a spectrum of psychiatric symptoms, such as schizophrenia and catatonia. Rarely, these symptoms, if left untreated, can result in spinal deformities. Research question and case description: This case report details the treatment of a 16-year-old male ASD patient with catatonic schizophrenia and mutism, presenting with neck pain, left-rotated torticollis, and fever. MRI revealed atlantoaxial rotational instability and spinal cord compression from a dislocated dens axis. After inconclusive biopsies, empirical antibiotics, hard collar and halo fixation treatment, persistent instability necessitated C1/2 fusion. The ongoing catatonia was addressed with electroconvulsive therapy. Concurrently, he developed severe subaxial hyperkyphosis. The report examines the decision-making between conservative and surgical management for an adolescent with significant psychiatric comorbidity and progressive spinal symptoms against a backdrop of uncertain etiology. Materials and methods: A case report and review of the literature. Results: Posterior C1-C7 stabilization was successfully executed, effectively restoring cervical sagittal alignment, which was maintained throughout a two-year follow-up. Concurrently, the catatonia resolved. Discussion and conclusion: To our knowledge, this is the third reported case of severe cervical deformity associated with fixed posture in a psychiatric patient. This case report emphasizes the critical importance of multidisciplinary collaboration in managing the interplay between neuropsychiatric disorders and severe spinal deformities. It showcases the practicality and efficacy of surgical intervention for persistent cervical deformity in pediatric schizophrenia patients, highlighting the necessity for a comprehensive risk-benefit analysis.

Case report: Psychosis and catatonia in an adolescent patient with adipsic hypernatremia and autoantibodies against the subfornical organ.

This is the first description of a patient in which adipsic hypernatremia, a rare autoimmune encephalitis, presented in combination with complex psychiatric symptomatology, including psychosis and catatonia. Adipsic hypernatremia is characterized by autoantibodies against the thirst center of the brain. These autoantibodies cause inflammation and apoptosis in key regions of water homeostasis, leading to lack of thirst and highly increased serum sodium. To date, the symptoms of weakness, fatigue and drowsiness have been associated with adipsic hypernatremia, but no psychiatric symptomatology. Here, we showcase the first description of an adolescent patient, in which severe and complex psychiatric symptoms presented along with adipsic hypernatremia. The patient experienced delusion, hallucinations, restlessness and pronounced depression. Further, he showed ritualized, aggressive, disinhibited and sexualized behavior, as well as self-harm and psychomotor symptoms. Due to his severe condition, he was hospitalized on the emergency unit of the child and adolescent psychiatry for 8 months. Key symptoms of the presented clinical picture are: childhood-onset complex and treatment-resistant psychosis/catatonia, pronounced behavioral problems, fatigue, absent thirst perception, hypernatremia and elevated prolactin levels. This case report renders first evidence speaking for a causal link between the autoimmune adipsic hypernatremia and the psychotic disorder. Moreover, it sheds light on a new form of autoimmune psychosis.

Sleep regularity in healthy adolescents: Associations with sleep duration, sleep quality, and mental health.

Current evidence points to the importance of sleep for adolescent physical and mental health. To date, most studies have examined the association between sleep duration/quality and health in adolescence. An emerging line of research suggests that regularity in the timing of sleep may also play an important role in well-being. To address this aspect of sleep, the present study investigated daily variability of sleep, quantified using the sleep regularity index (SRI), in 46 adolescents (M = 12.78 ± 1.07 years) and its association with depressive symptoms/mental health. Sleep was measured during a 6 month period (M = 133.11 ± 36.42 nights) using actigraphs to quantify SRI values calculated for school days, weekends and holidays. Depressive symptoms and general psychopathology were assessed at the beginning (baseline) and end (follow-up) of the actigraphy measurements. Sleep was most regular during school days and associated with a longer total sleep time, shorter sleep onset latency, and higher sleep efficiency. Moreover, a higher SRI on school days was associated with fewer depressive symptoms at follow-up, whereas higher SRI on weekends was associated with less overall psychopathology at follow-up. Furthermore, the change in overall psychopathology, but not depressive symptoms across the two assessments was correlated with sleep regularity index. Our results suggest that regular timing of sleep is associated with sleep that is of longer duration and higher quality and may be protective of adolescent mental health. Therefore, adolescents should be encouraged not only to get enough sleep, but also to retain regular sleeping patterns to promote well-being and mental health.

Sleep and physical activity: results from a long-term actigraphy study in adolescents.

PURPOSE: Research to date suggests that physical activity is associated with improved sleep, but studies have predominantly relied on self-report measures and have not accounted for school day/free day variability. To address these gaps in the literature, the aim of the present study was to (a) quantify physical activity in adolescents using long-term daily actigraphy measurement and (b) to examine the association between actigraphically assessed steps and sleep behavior in a sample of healthy adolescents. To be able to capture intra- and inter-individual differences in the daily physical activity of adolescents, we examined within as well as between subjects effects and its association with sleep. METHODS: Fifty adolescents between 10 and 14 years of age were included in the present study. In total 5989 days of actigraphy measurement (average of 119 ± 40 days per participant; range = 39-195 days) were analyzed. We use multilevel modeling to disentangle the within and between subject effects of physical activity on sleep. In this way, we examine within an individual, the association between steps during the day and subsequent sleep on a day-to-day basis. On the other hand, our between subjects' analysis allows us to ascertain whether individuals with more overall physical activity have better sleep. RESULTS: Within a subject more steps on school and free days were associated with later bed times on school and free days as well as later rise times on school days only. On the other hand, comparing between subjects' effects, more steps were associated with lower sleep efficiency on free and school days. No other significant associations were found for the other sleep variables. CONCLUSION: Our results obtained through objective and long-term measurement of both sleep and number of steps suggest weak or non-significant associations between these measures for most sleep variables. We emphasize the importance of the methodology and the separation of within subject from between subject features when examining the relationship between physical activity and sleep.

Correction to: The child and adolescent psychiatry: study of training in Europe (CAP­STATE).

The original article has been corrected.

The child and adolescent psychiatry: study of training in Europe (CAP-STATE).

There is great cultural diversity across Europe. This is reflected in the organisation of child and adolescent mental health (CAMH) services and the training of the respective professionals in different countries in Europe. Patients and their parents will want a high quality, knowledgeable, and skillful service from child and adolescent psychiatrists (CAPs) wherever they see them in Europe. A European comparison of training programs allows all stakeholders in different European countries to assess the diversity and to initiate discussions as to the introduction of improvements within national training programs. Major issues to be addressed in comparing child and adolescent psychiatric training programs across Europe include: (1) formal organisation and content of training programs and the relationship to adult psychiatry and paediatrics; (2) flexibility of training, given different trainee interests and that many trainees will have young families; (3) quality of governance of training systems; (4) access to research; and (5) networking. The Child and Adolescent Psychiatry-Study of Training in Europe (CAP-State) is a survey of training for child and adolescent psychiatrists (CAPs) across European countries. It aims to revisit and extend the survey carried out in 2006 by Karabekiroglu and colleagues. The current article is embedded in a special issue of European Child + Adolescent Psychiatry attempting to for the first time address training in CAP at the European and global levels. Structured information was sought from each of 38 European and neighboring countries (subsequently loosely referred to as Europe) and obtained from 31. The information was provided by a senior trainee or recently qualified specialist and their information was checked and supplemented by information from a senior child and adolescent psychiatry trainer. Results showed that there is a very wide range of provision of training in child and adolescent psychiatry in different countries in Europe. There remains very substantial diversity in training across Europe and in the degree to which it is subject to national oversight and governance. Some possible reasons for this variation are discussed and some recommendations made.

Association between depressive symptoms and sleep neurophysiology in early adolescence.

BACKGROUND: Depression is highly prevalent among adolescents, and depressive symptoms rise rapidly during early adolescence. Depression is often accompanied by subjective sleep complaints and alterations in sleep neurophysiology. In this study, we examine whether depressive symptoms, measured on a continuum, are associated with subjective and objective (sleep architecture and neurophysiology) measures of sleep in early adolescence. METHODS: High-density sleep EEG, actigraphy, and self-reported sleep were measured in 52 early adolescents (12.31 years; SD: 1.121; 25 female). Depressive symptoms were measured on a continuum using the Center for Epidemiological Studies Depression Scale (CES-D). The association between depressive symptoms and 2 weeks of actigraphy, self-reported sleep, sleep architecture, and sleep neurophysiology (slow wave activity and sigma power) was determined via multiple linear regression with factors age, sex, and pubertal status. RESULTS: Despite no association between polysomnography measures of sleep quality and depressive symptoms, individuals with more depressive symptoms manifested worse actigraphically measured sleep. Less sleep spindle activity, as reflected in nonrapid eye movement sleep sigma power, was associated with more depressive symptoms over a large cluster encompassing temporal, parietal, and occipital regions. Furthermore, worse subjectively reported sleep quality was also associated with less sigma power over these same areas. Puberty, age, and sex did not impact this association. CONCLUSIONS: Sleep spindles have been hypothesized to protect sleep against environmental disturbances. Thus, diminished spindle power may be a subtle sign of disrupted sleep and its association with depressive symptoms in early adolescence may signal vulnerability for depression.

Nature and Nurture: Brain Region-Specific Inheritance of Sleep Neurophysiology in Adolescence.

Sleep-specific oscillations of spindles and slow waves are generated through thalamocortical and corticocortical loops, respectively, and provide a unique opportunity to measure the integrity of these neuronal systems. Understanding the relative contribution of genetic factors to sleep oscillations is important for determining whether they constitute useful endophenotypes that mark vulnerability to psychiatric illness. Using high-density sleep EEG recordings in human adolescent twin pairs (n = 60; 28 females), we find that over posterior regions 80-90% of the variance in slow oscillations, slow wave, and spindle activity is due to genes. Surprisingly, slow (10-12 Hz) and fast (12-16 Hz) anterior spindle amplitude and σ power are largely driven by environmental factors shared among the twins. To our knowledge this is the first example of a neural phenotype that exhibits a strong influence of nature in one brain region, and nurture in another. Overall, our findings highlight the utility of the sleep EEG as a reliable and easy to measure endophenotype during adolescence. This measure may be used to measure disease risk in development before the onset of a psychiatric disorder; the location within the brain of deficits in sleep neurophysiology may suggest whether the ultimate cause is genetic or environmental.SIGNIFICANCE STATEMENT Two cardinal oscillations of sleep, slow waves and sleep spindles, play an important role in the core functions of sleep including memory consolidation, synaptic plasticity, and the recuperative function of sleep. In this study, we use a behavioral genetics approach to examine the heritability of sleep neurophysiology using high-density EEG in a sample of early adolescent twins. Our findings reveal a strong influence of both environmental and genetic factors in shaping these oscillations, dependent on brain region. Thus, during a developmental period when brain structure and function is in flux, we find that the sleep EEG is among the most heritable of human traits over circumscribed brain regions.

Web-Based Assessment of Mental Well-Being in Early Adolescence: A Reliability Study.

BACKGROUND: The ever-increasing use of the Internet among adolescents represents an emerging opportunity for researchers to gain access to larger samples, which can be queried over several years longitudinally. Among adolescents, young adolescents (ages 11 to 13 years) are of particular interest to clinicians as this is a transitional stage, during which depressive and anxiety symptoms often emerge. However, it remains unclear whether these youngest adolescents can accurately answer questions about their mental well-being using a Web-based platform. OBJECTIVE: The aim of the study was to examine the accuracy of responses obtained from Web-based questionnaires by comparing Web-based with paper-and-pencil versions of depression and anxiety questionnaires. METHODS: The primary outcome was the score on the depression and anxiety questionnaires under two conditions: (1) paper-and-pencil and (2) Web-based versions. Twenty-eight adolescents (aged 11-13 years, mean age 12.78 years and SD 0.78; 18 females, 64%) were randomly assigned to complete either the paper-and-pencil or the Web-based questionnaire first. Intraclass correlation coefficients (ICCs) were calculated to measure intrarater reliability. Intraclass correlation coefficients were calculated separately for depression (Children's Depression Inventory, CDI) and anxiety (Spence Children's Anxiety Scale, SCAS) questionnaires. RESULTS: On average, it took participants 17 minutes (SD 6) to answer 116 questions online. Intraclass correlation coefficient analysis revealed high intrarater reliability when comparing Web-based with paper-and-pencil responses for both CDI (ICC=.88; P<.001) and the SCAS (ICC=.95; P<.001). According to published criteria, both of these values are in the "almost perfect" category indicating the highest degree of reliability. CONCLUSIONS: The results of the study show an excellent reliability of Web-based assessment in 11- to 13-year-old children as compared with the standard paper-pencil assessment. Furthermore, we found that Web-based assessments with young adolescents are highly feasible, with all enrolled participants completing the Web-based form. As early adolescence is a time of remarkable social and behavioral changes, these findings open up new avenues for researchers from diverse fields who are interested in studying large samples of young adolescents over time.

A Cilia Independent Role of Ift88/Polaris during Cell Migration.

Ift88 is a central component of the intraflagellar transport (Ift) complex B, essential for the building of cilia and flagella from single cell organisms to mammals. Loss of Ift88 results in the absence of cilia and causes left-right asymmetry defects, disordered Hedgehog signaling, and polycystic kidney disease, all of which are explained by aberrant ciliary function. In addition, a number of extraciliary functions of Ift88 have been described that affect the cell-cycle, mitosis, and targeting of the T-cell receptor to the immunological synapse. Similarly, another essential ciliary molecule, the kinesin-2 subunit Kif3a, which transports Ift-B in the cilium, affects microtubule (MT) dynamics at the leading edge of migrating cells independently of cilia. We now show that loss of Ift88 impairs cell migration irrespective of cilia. Ift88 is required for the polarization of migrating MDCK cells, and Ift88 depleted cells have fewer MTs at the leading edge. Neither MT dynamics nor MT nucleation are dependent on Ift88. Our findings dissociate the function of Ift88 from Kif3a outside the cilium and suggest a novel extraciliary function for Ift88. Future studies need to address what unifying mechanism underlies the different extraciliary functions of Ift88.

Primary cilia regulate mTORC1 activity and cell size through Lkb1.

The mTOR pathway is the central regulator of cell size. External signals from growth factors and nutrients converge on the mTORC1 multi-protein complex to modulate downstream targets, but how the different inputs are integrated and translated into specific cellular responses is incompletely understood. Deregulation of the mTOR pathway occurs in polycystic kidney disease (PKD), where cilia (filiform sensory organelles) fail to sense urine flow because of inherited mutations in ciliary proteins. We therefore investigated if cilia have a role in mTOR regulation. Here, we show that ablation of cilia in transgenic mice results in enlarged cells when compared with control animals. In vitro analysis demonstrated that bending of the cilia by flow is required for mTOR downregulation and cell-size control. Surprisingly, regulation of cell size by cilia is independent of flow-induced calcium transients, or Akt. However, the tumour-suppressor protein Lkb1 localises in the cilium, and flow results in increased AMPK phosphorylation at the basal body. Conversely, knockdown of Lkb1 prevents normal cell-size regulation under flow conditions. Our results demonstrate that the cilium regulates mTOR signalling and cell size, and identify the cilium-basal body compartment as a spatially restricted activation site for Lkb1 signalling.