[A qualitative study of shared decision making related to psychotropic drugs in adolescence]. / Kwalitatief onderzoek naar gedeelde besluitvorming over psychofarmaca bij jongeren.

BACKGROUND: Shared decision making (SDM) is an evidence-based model that involves the collaborative development of a treatment plan. SDM in adolescents with mental health problems is complex. Most mental health problems arise in adolescence and psychotropic drugs are an important part of treatment. Previous research focuses primarily on caregivers’ experience with SDM. AIM: This research has the main objective to gain insight into the adolescents’ experience with shared decision making related to psychotropic drugs. METHODS: Qualitative research through semi-structured interviews with 12 adolescents (12-18 years old) between June and October 2021, followed by thematic analysis of the data using the systematic text condensation (Malterud). RESULTS: Four themes were identified in the analysis: 1) the adolescent wants to feel heard, 2) the adolescent needs support in forming and expressing his/her opinion, 3) SDM in adolescents is a complex trialogue, and 4) the decision-making process affects treatment and adherence. CONCLUSION: When we ask adolescents about their experience with SDM, we can learn the following:- Involve parents, but always tailor this to the individual adolescent and his context. – Put the adolescent at the center. – Dwell on the adolescent’s view on psychotropic drugs.

Automated sleep staging in people with intellectual disabilities using heart rate and respiration variability.

BACKGROUND: People with intellectual disabilities (ID) have a higher risk of sleep disorders. Polysomnography (PSG) remains the diagnostic gold standard in sleep medicine. However, PSG in people with ID can be challenging, as sensors can be burdensome and have a negative influence on sleep. Alternative methods of assessing sleep have been proposed that could potentially transfer to less obtrusive monitoring devices. The goal of this study was to investigate whether analysis of heart rate variability and respiration variability is suitable for the automatic scoring of sleep stages in sleep-disordered people with ID. METHODS: Manually scored sleep stages in PSGs of 73 people with ID (borderline to profound) were compared with the scoring of sleep stages by the CardioRespiratory Sleep Staging (CReSS) algorithm. CReSS uses cardiac and/or respiratory input to score the different sleep stages. Performance of the algorithm was analysed using input from electrocardiogram (ECG), respiratory effort and a combination of both. Agreement was determined by means of epoch-per-epoch Cohen's kappa coefficient. The influence of demographics, comorbidities and potential manual scoring difficulties (based on comments in the PSG report) was explored. RESULTS: The use of CReSS with combination of both ECG and respiratory effort provided the best agreement in scoring sleep and wake when compared with manually scored PSG (PSG versus ECG = kappa 0.56, PSG versus respiratory effort = kappa 0.53 and PSG versus both = kappa 0.62). Presence of epilepsy or difficulties in manually scoring sleep stages negatively influenced agreement significantly, but nevertheless, performance remained acceptable. In people with ID without epilepsy, the average kappa approximated that of the general population with sleep disorders. CONCLUSIONS: Using analysis of heart rate and respiration variability, sleep stages can be estimated in people with ID. This could in the future lead to less obtrusive measurements of sleep using, for example, wearables, more suitable to this population.

Obstructive sleep apnea in people with intellectual disabilities: adherence to and effect of CPAP.

PURPOSE: Obstructive sleep apnea (OSA) is common in people with intellectual disabilities (ID), but in practice continuous positive airway pressure (CPAP) is often deemed unfeasible. We investigated adherence to and effect of CPAP in patients with ID and OSA. METHODS: Patients with ID were started on CPAP using an intensive training program. Acceptable adherence was defined as use of ≥ 4 h/night during ≥ 70% of the nights. Treatment effect was measured with a patient global impression scale and customized questionnaires. Reasons for not starting CPAP, factors influencing treatment, and reasons for terminating CPAP were explored. RESULTS: Of 39 patients with ID, 87% after 8-10 weeks and 70% at 8 months still used CPAP, of whom 74% and 77% showed acceptable adherence. Baseline apnea-hypopnea (AHI) index decreased from 41.2/h to 5.3/h after 8-10 weeks (p < 0.001), and 4.3/h after 8 months (p < 0.001). At 8-10 weeks and after 8 months, there was an improvement in the most restrictive reported complaint (both p < 0.0005), difficulty waking up (p < 0.01; p < 0.0005), handling behavior (p < 0.03; p < 0.02), presence of irritability (p < 0.01), and sleepiness (p < 0.05). The expectation that CPAP would not be tolerated was the main reason for not starting. CPAP use in the first 2 weeks predicted adherence at 8-10 weeks and 8 months (r = 0.51, p < 0.01; r = 0.69, p < 0.01). Of 13 patients who terminated CPAP, the reasons for termination included behavioral problems, comorbid insomnia, anxiety, discomfort, or other side effects. CONCLUSIONS: With adequate guidance, CPAP is both feasible and effective in people with ID and OSA.

The importance of specialized sleep investigations in children with a suprasellar tumor.

PURPOSE: Disruption of sleep has great impact on quality of life. In children with a suprasellar tumor and hypothalamic-pituitary dysfunction, the circadian rhythm may be disturbed causing sleep problems. However, also other factors may influence sleep. Awareness of these different etiologies and careful history taking with appropriate additional diagnostics will aid in restoring sleep quality. METHODS: We present the workup of 4 cases with a suprasellar tumor and disturbances of sleep initiation, sleep maintenance, and daytime sleepiness. In parallel, we developed a flowchart, to aid clinicians in the diagnostics of sleep problems in children after treatment for a (supra) sellar brain tumor. RESULTS: All four patients, known with hypopituitarism, presented with sleep complaints and increased daytime sleepiness. In all four, the cause of sleep problems showed to be different. In the first case, sleep evaluation revealed a severe obstructive sleep apnea, whereupon nocturnal ventilation was started. The second case revealed poor sleep hygiene in combination with an obsessive compulsive disorder. Sleep hygiene was addressed and psychiatric consultation was offered. Dexamphetamine treatment was started to reduce her obsessive compulsive complaints. The third case showed a delayed sleep phase syndrome, which improved by educational support. The fourth case revealed a secondary organic hypersomnia for which modafinil treatment was started. CONCLUSION: Sleep disturbances in children with hypopituitarism due to a (supra) sellar tumor can have different entities which require specific therapy. Awareness of these different entities is important to enable appropriate counseling. Referral to an expertise sleep center may be advised, if standard educational support is insufficient.

[Sleep therapy for young children: do not polarize, but aim for diversity in treatment]. / Slaaptherapie bij jonge kinderen.

Behavioural interventions, such as developing positive sleep-related associations and gradual extinction, are common and proven methods to treat behavioural childhood sleep problems. Although behavioural interventions are safe and effective, controversy has arisen because of the impression that they are incompatible with sensitive parenting (i.e. cued care). The practice of extinction, however, does not preclude a sensitive parenting style. It stimulates autonomy and self-regulation in the child. Instead of counterposing behavioural interventions and cued care, we suggest it is more productive to start from their similarities, such as optimizing sleep hygiene and developing a fixed sleep-wake rhythm. Such measures could be the first steps in a stepped-care model that may be supplemented with additional treatment aimed at the underlying causes of insomnia. For this comprehensive approach it is necessary to have a diverse array of evidence-based treatment options that suits the needs of both children and parents.

Psychometric properties and norm scores of the sleep self report in Dutch children.

BACKGROUND: Psychometrically robust questionnaires to assess self-reported sleep problems in children are important since sleep problems can have a major impact on child development. The Sleep Self Report (SSR) is a 26-item self-report tool measuring different sleep domains in children aged 7-12 years. This study aims to evaluate the psychometric properties of the SSR and to provide Dutch norm scores. METHODS: Children aged 7-12 years from the general population were recruited through a professional market research agency. In this population, structural validity was assessed with confirmatory and exploratory factor analyses, internal consistency was assessed with the Cronbach's alpha coefficient and norm scores were provided. Additionally, children attending outpatient sleep clinics (clinical population) were invited to participate. SSR scores of the general population and the clinical population were compared to establish discriminative validity. RESULTS: In total, 619 children (mean age: 9.94 ± 1.72 years) from the general population and 34 children (mean age: 9.21 ± 1.63 years) from sleep clinics participated. The 1-factor structure of the SSR was not confirmed with factor analysis. Exploratory analyses did also not yield an appropriate multidimensional structure. Internal consistency of the total score was adequate (Cronbach's alpha: 0.76). The total score distinguished the clinical population from the general population (39.07 ± 5.31 versus 31.61 ± 5.31; P < 0.01). CONCLUSIONS: An appropriate structure of the SSR was not found with factor analyses in this Dutch population. The adequate internal consistency indicates that the total score can be interpreted as a measure of overall sleep problems. The SSR also shows good discriminative validity. We recommend the total score to assess overall sleep problems and item scores to evaluate specific sleep issues and to follow up children's sleep longitudinally, as opposite changes in different item scores may not reflect in the total score. Further research on the development of multidimensional psychometrically sound pediatric sleep self-reports is of major importance.

The yield of diagnostic work-up of patients presenting with myalgia, exercise intolerance, or fatigue: A prospective observational study.

Myalgia, fatigue, and exercise intolerance are cause for referral to a neurologist. However, the diagnostic value of history, neurological examination, and ancillary investigations in patients with these symptoms is unknown. This study provides a sound footing for deciding which ancillary investigations should be conducted. A prospective observational study of the diagnostic approach in 187 patients with myalgia, exercise intolerance, or fatigue as their predominant symptom was performed. The primary outcomes were independent contribution of referral letter, history, examination, and ancillary investigations to a myopathy diagnosis. The secondary outcome was diagnostic value of combined ancillary investigations. 27% of patients had a myopathy. Positive family history (OR 3.2), progressive symptoms (OR 2.2), atrophy (OR 9.7), weakness (OR 10.9), and hyporeflexia (OR 4.4) were associated with a myopathy. Positive predictive values for myopathy were calculated for CK (0.32), EMG (0.66), ultrasound (0.47), and muscle biopsy (0.78). All contributed significantly in predicting myopathy. Multivariate analysis yielded a diagnostic algorithm facilitating a more efficient work-up in future patients. CK levels, EMG, ultrasound, and muscle biopsy independently contribute to predicting a myopathy. The diagnostic algorithm shows which combination of ancillary investigations should be employed in different subgroups and when to omit invasive techniques. This algorithm may drastically improve diagnostic efficiency.

[Kleine Levin Syndrome: more than just periodic hypersomnia]. / Kleine-Levin-syndroom: meer dan periodieke hypersomnie.

BACKGROUND: Kleine Levin Syndrome (KLS) is a rare disease with periodic hypersomnia as its main feature. Hyperphagia and hypersexuality are also described as classical symptoms, although quite recently it has become clear that the full triad is absent in the majority of patients. CASE DESCRIPTION: A 14-year-old boy developed KLS after a period of flu-like symptoms. Over the course of three years he suffered from seven one-week episodes of extreme hypersomnia (sleeping 18 hours a day), depersonalisation, apathy, anxiety, paranoia, confusion, hallucinations and uninhibited sexual behaviour. He ate little. Ancillary investigations did not reveal any abnormalities. In between these episodes he had no symptoms. CONCLUSION: From this case description and a summary of the symptoms of twelve other patients with KLS, it appears that neuropsychiatric symptoms are much more prominent than hyperphagia and hypersexuality. It is important that the typical KLS phenotype be reappraised, so that the condition can be recognised early and patients managed appropriately.

Skeletal muscle involvement in myotonic dystrophy type 2. A comparative muscle ultrasound study.

This study determines the presence and extent of muscle changes in 31 myotonic dystrophy type 2 (DM2) patients detected by muscle ultrasound. Results were compared to 31 adult-onset myotonic dystrophy type 1 patients (DM1) and healthy controls. Furthermore, we tested the hypothesis that structural muscle changes correlate with age, quantitative muscle force and serum creatine kinase in both disorders. In DM2 all seven examined muscles (right masseter muscle, right and left biceps brachii, right and left forearm flexors, right rectus femoris, and left tibialis anterior muscle) showed increased mean echo intensities (p ≤ 0.001). Atrophy of the masseter muscle and rectus femoris were both found in 23% of DM2 patients. Muscle thickness was significantly more decreased in the elbow flexors in DM2 compared to DM1. Echo intensity sum score correlated positively with age in DM2 (r=0.57, p=0.001) and negatively with muscle force (r=0.36, p=0.048). We conclude that all tested muscles are affected and structurally abnormal in DM2 patients. Proximal arm muscles are more affected in DM2 compared to DM1, which corresponds to clinical findings.

Quantitative ultrasound of lower leg and foot muscles: feasibility and reference values.

BACKGROUND: Ultrasound is a non-invasive method to quantitatively measure various muscle parameters. Purpose of this study was to assess the feasibility of ultrasound of lower leg and foot muscles and to obtain reference values for muscle thickness (MT) and echo intensity (EI). METHODS: Ultrasound measurements of leg and foot muscles were performed in 60 healthy adults. MT and EI were quantitatively determined for the abductor hallucis (AH), extensor digitorum brevis (EDB), extensor hallucis longus (EHL) and peroneus longus (PER) muscles. Influence of age, height, weight and sex was determined using a multiple linear regression analysis. RESULTS: All muscles except the AH could easily be visualized with ultrasound. EI tended to be increased above 60 years and MT was significantly higher in men compared to women, necessitating age- and sex-dependent reference values. CONCLUSIONS: This study shows that muscle ultrasound is capable of visualizing lower leg and foot muscles and reference values for MT and EI can be obtained. Future research will focus on the use of these reference values to evaluate muscle abnormalities caused by neuromuscular disorders like hereditary motor and sensory neuropathy.

Neuromuscular features in Marfan syndrome.

Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized questionnaire, physical examination, nerve conduction study (NCS), needle electromyography (EMG), muscle ultrasound, laboratory investigation, and muscle biopsy. Existing neuroimages were screened for dural ectasia and spinal meningeal cysts. Twenty healthy controls with similar age distribution completed the questionnaire. The results showed that various neuromuscular symptoms occur more frequently in the patients. Four older patients reported muscle weakness, five patients had a mild-to-moderate reduction in vibration sense, and all older patients mentioned mild functional impairments. NCS showed axonal polyneuropathy in four and EMG myopathic and neurogenic changes in all patients. Increased echo intensity and atrophy on muscle ultrasound was found in more than half of the patients. Muscle biopsies obtained in two patients showed myopathic changes in the older, female patient. In conclusion, the majority of Marfan patients exhibited neuromuscular symptoms characterized as myopathy or polyneuropathy or both, and signs of lumbosacral radiculopathy, with symptoms being most pronounced in the older patients. Although meriting corroboration, these findings indicate a need to further the awareness of neuromuscular involvement in this population.

Muscle ultrasound measurements and functional muscle parameters in non-dystrophic myotonias suggest structural muscle changes.

Patients with non-dystrophic myotonias, including chloride (myotonia congenita) and sodium channelopathies (paramyotonia congenita/potassium aggravated myotonias), may show muscular hypertrophy in combination with some histopathological abnormalities. However, the extent of muscle changes has never been assessed objectively in a large group genetically confirmed patients. This study quantitatively determines echo intensities, thicknesses, ranges-of-motion and force of four skeletal muscles in 63 genetically confirmed patients. The main findings revealed elevated echo intensities in all muscles except the rectus femoris (+1.3-2.2SD, p<0.0001), and hypertrophy in the arms (+0.5-0.9SD, p<0.01). Muscle echo intensities were inversely correlated to the corresponding ranges-of-motion (biceps brachii: r= -0.43; p<0.001, forearm flexors: r= -0.47; p<0.001, rectus femoris: r= -0.40; p=0.001, and tibial anterior: r= -0.27; p=0.04) and correlated positively to age (r=0.22; p=0.05). The echo intensity of the forearm flexors was inversely correlated to their muscles' force (r= -0.30; p=0.02). Together, these data suggest that non-dystrophic myotonias may lead to structural muscle changes.

Evaluation of prednisolone treatment in the acute phase of neuralgic amyotrophy: an observational study.

BACKGROUND: Effective treatment for neuralgic amyotrophy (NA), a disabling brachial plexus syndrome of supposed immunomediated origin, is currently lacking. Given the circumstantial evidence of a beneficial effect of prednisolone on pain and paresis, this report evaluates the effects of prednisolone treatment administered in the acute phase in a retrospective case series of 50 NA patients. METHODS: Baseline variables (eg, age, sex, type of NA and number of attacks), treatment variables (eg, time until treatment, regimen and use of analgesics) and outcome measures (eg, duration and severity of pain, time course and severity of paresis and functional outcome) were statistically analysed and compared with a historical control group of 203 untreated NA patients. RESULTS: The baseline characteristics of the two patient groups were comparable. The median time until initial pain relief was lower in the study group (12.5 days vs 20.5 days), and a significantly higher percentage already recovered strength in the first month of treatment (18% vs 6.3%; p = 0.011). Twelve per cent had fully recovered within 1 year, while this was 1% for the controls (p<0.001), with the proportion reporting a "good" 12-month outcome also being higher (44% vs 10.7%; p<0.001). Side effects were reported by 20%, but none led to a discontinuation of treatment. CONCLUSION: Oral prednisolone seems effective in the acute phase of neuralgic amyotrophy with the current results supporting previous case reports. A regimen of oral prednisolone is therefore recommended in the acute phase of the syndrome pending a prospective, randomised trial verifying the results obtained.

Morphea profunda presenting as a neuromuscular mimic.

Localized scleroderma is characterized by idiopathic fibrosis of the skin and adjacent structures, and muscle involvement occurs predominantly in deep morphea. We report a patient with linear scleroderma who presented with slowly progressive atrophy, muscle weakness, and loss of function of her right arm, mimicking a neuromuscular disorder. Muscle biopsy eventually revealed zones of myositis, compatible with morphea profunda. Morphea profunda may thus present as a neuromuscular mimic, even in case of nonprogressive skin sclerosis. Myositis in morphea profunda is generally limited to one region, whereas inflammatory myopathies generally cause diffuse proximal muscle weakness and atrophy. Furthermore, skin changes in morphea profunda differ from those seen in dermatomyositis, and histological features of muscle biopsy can further distinguish between morphea profunda and inflammatory myopathies. Muscle biopsy in morphea profunda implies the risk of sampling error, whereas results of electromyography and muscle imaging might better represent the extent of muscle inflammation.

Stevens-Johnson syndrome in a child with chronic mercury exposure and 2,3-dimercaptopropane-1-sulfonate (DMPS) therapy.

INTRODUCTION: Stevens-Johnson syndrome (SJS) is an uncommon and potentially serious mucocutaneous disease. The most important step in the management of SJS is early recognition and immediate withdrawal of the causative agent. We present a patient with SJS associated with dimercaptopropane-1-sulfonate (DMPS) therapy. CASE REPORT: An asymptomatic 11-year old boy who had been exposed chronically to mercury vapour had a 24-hour urine mercury concentration of 37 microgram/L (reference value <10 microgram/L). Exposure to the mercury vapour was stopped and treatment with oral DMPS was begun. After two weeks of therapy, he developed a disseminated cutaneous eruption of red pruritic macules on his chest and back, which three days later had spread all over his body with the discrete maculae becoming confluent; erosions and crusts developed on his lips and he had blisters in his mouth. The diagnosis of SJS was made, the DMPS was stopped, and the SJS resolved gradually. DISCUSSION: Chelation agents like DMPS or DMSA are increasingly used and are available over the counter in some countries. These drugs are used in patients with complaints that are attributed to mercury-containing dental amalgams and in children with autism. CONCLUSION: The reported association suggests that SJS may be a potential complication of DMPS therapy, and this should be considered in the risk-benefit analysis of chelation. The reported association suggests that SJS may be a potential complication of DMPS therapy, and this should be considered in the risk-benefit analysis of chelation.

Neuromuscular abnormalities in ataxia telangiectasia: a clinical, electrophysiological and muscle ultrasound study.

Thirteen classical ataxia telangiectasia (A-T) patients, varying in age from 1 to 25 years, were studied clinically, electrophysiologically as well as by muscle ultrasound to chart the development and spectrum of neuromuscular abnormalities in A-T. The most prominent finding was a progressive axonal sensorimotor polyneuropathy, apparent by electromyography and muscle ultrasound from the age of 8 years and becoming clinically discernible around 12 years of age. Before the age of 8 years decreased tendon reflexes and slightly slowed sensory nerve conduction velocities could already be observed. With routine electrophysiological techniques the severe polyneuropathy precludes conclusions about the presence of anterior horn cell loss in older patients.

Quantitative skeletal muscle ultrasound: diagnostic value in childhood neuromuscular disease.

UNLABELLED: In this study we investigated the diagnostic value of quantitative skeletal muscle ultrasonography in 150 consecutively referred children with symptoms suspect for a neuromuscular disorder. Muscle thickness and quantitatively determined echo intensity of four muscles and the distribution of these variables within the body were examined. RESULTS: Patients with and without a neuromuscular disorder could be discriminated with a positive predictive value of 91% and a negative predictive value of 86%. Patients with a neurogenic disorder could be distinguished from myopathies and non-neuromuscular disorders with a positive predictive value of 86% and a negative predictive of 84%, using the pattern of distribution of pathology within the body. CONCLUSIONS: Skeletal muscle ultrasound is a good, practical and non-invasive aid in the diagnosis of neuromuscular disorders in children, that is able to discriminate between children with and without a neuromuscular disorder and between neurogenic disorders and myopathies with high predictive values.

Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system.

OBJECTIVE: The aim of this prospective study was to investigate the diagnostic value of quantitative skeletal muscle ultrasonography in children suspected of having a mitochondrial disorder. METHODS: Muscle thickness and quantitatively determined echo intensity of four muscles were established in 53 children with symptoms indicative of a mitochondrial disorder. RESULTS: A sensitivity of 25 to 46 % was found, depending on the chosen cut-off point (abnormal or borderline abnormal), with a specificity of 85 to 100 %. Except for one, all abnormal ultrasound scans were found in children over five years of age. Within the group of patients with a mitochondrial disorder, a significant correlation was found between muscle echo intensity and age (r = 0.38; p = 0.047). CONCLUSIONS: We conclude that skeletal muscle ultrasound can be of additional value in the diagnosis of children with suspected mitochondrial disorders, especially in children over five years of age. With its low sensitivity, it is not suitable for screening purposes. However, since all abnormal ultrasound scans were found in children with a mitochondrial disorder, and no significant correlation with the MDC score was found, muscle ultrasound can be used complementary to this scoring system to facilitate the decision-making in pursuing further invasive diagnostics.

Quantitative ultrasonography of skeletal muscles in children: normal values.

The purpose of this study was to establish normal values of muscle thickness, ratio of muscle thickness to subcutaneous fat thickness, and muscle echo intensity in children between 11 weeks and 16 years of age. Transverse scans of four muscles were made by standardized real-time ultrasound examination. The scans were digitized, and mean echo intensity was measured using gray-scale analysis. A multiple regression equation was used to study which independent parameter (age, height, weight, or sex) influenced the variables for each muscle. Muscle thickness depended on the child's weight. The other parameters did not significantly influence muscle thickness after correction for weight. The ratio of muscle thickness to subcutaneous fat thickness depended on age. Echo intensity showed no correlation with either of the variables. As a result, all normal values, including the equation to calculate them, are described. These normal data may help to determine the diagnostic value of muscle ultrasound in children with suspected neuromuscular disease.