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BACKGROUND: Child ADHD symptoms are highly prevalent in middle childhood, alongside impairment in social functioning. The parent-child relationship has been shown to play an important role; however, studies investigating specific facets of the parent-child relationship in ADHD symptomatology in middle childhood have been neglected. We assumed that higher ADHD symptoms were associated with both (1) lower maternal emotional availability (EA) and (2) lower child attachment security. Moreover, (3) we aimed to explore which specific EA dimensions were associated with ADHD symptoms. METHODS: In a socio-pediatric clinic in Germany, 71 inpatient mother-child dyads (child age: M = 7.70, SD = 1.06; n = 54 boys) were assessed. Clinical data about child ADHD symptoms (Child Behavior Checklist 6-18 subscale "attention deficit/hyperactivity problems"), maternal EA (free play), and child attachment representation (Attachment Story Completion Task, GEV-B) were analyzed cross-sectionally. RESULTS: Controlling for child oppositional behavior and sex, child ADHD symptoms were associated with overall maternal EA, and more specifically non-hostility, but not with child attachment representation. CONCLUSIONS: Our results imply that the role of parent-child interaction quality should be considered in the treatment of ADHD. Bidirectional effects cannot be ruled out.
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Background: Over nearly three years, the COVID-19 pandemic has had a lasting impact on people's lives and mental health worldwide with its far-reaching restrictions and concerns about infections and other personal consequences. Families were particularly affected and showed increased stress and psychological problems. Long-term effects cannot be ruled out. So far, data on young families are sparse. The present longitudinal analysis (n = 932) of the CoronabaBY study investigated the development of parenting stress, parental affective symptoms, and child's mental health in young families with children aged 0-3 years in Germany as well as potential influencing factors. Methods: The observational study includes two measurement points over the course of the pandemic (baseline and follow-up). Data was collected by app using standardized questionnaires. Results: N = 932 participants, mainly mothers (94.7%) born in Germany (93.1%) with higher education (61.3% with at least high school diploma) and a comfortable financial situation participated in the longitudinal study. Children were on average 14.7 months old at baseline (SD: 12, range: 1-39 months). While the proportion of parents who perceived the pandemic as stressful decreased significantly from baseline (60%) to follow-up (52.3%), the proportion with parenting stress increased significantly (from 40.1% to 45.4%). Both parental and child mental health problems remained constant over time, with infants crying/feeding/sleeping problems ranging above pre-pandemic comparative data. Most predictive for high parenting stress at follow-up was high parenting stress at baseline. This was also true for parental affective symptoms (depression/anxiety) and child mental health problems. Conclusions: Despite faded pandemic restrictions, parents remained burdened. Support services do not appear to have been sufficient to help families out of their stressful situation. Our results indicate a need for action regarding low-threshold services that effectively reach affected families. Trial registration: The study was pre-registered in OSF (https://osf.io/search/?q=tksh5&page=1).
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OBJECTIVES: To examine the impact of displacement experiences on 0- to 6-year-old children's social-emotional and cognitive development, as well as influencing factors on reported outcomes. STUDY DESIGN: We systematically searched MEDline, Psyndex, Cochrane Library, Web of Science, Elsevier, TandF, Oxford Journal of Refugee Studies, Journal of Immigrant & Refugee Studies, and Canada's Journal on Refugees for existing literature regarding social-emotional and cognitive outcomes in children directly exposed to forced displacement due to political violence. Results were synthesized in the discussion and displayed using harvest plots. RESULTS: Our search generated 9,791 articles of which 32 were selected for review and evaluation according to NICE criteria. Included studies provided results for 6,878 forcibly displaced children. Measured outcomes were diverse and included areas such as peer relations, prosocial behavior, family functioning, play, intelligence, learning performance, and language development. Repeated exposure to adverse experiences, separation from parents, parental distress, as well as duration and quality of resettlement in the host country were reported as influencing factors in the reviewed studies. CONCLUSION: As protective factors like secure and stable living conditions help to promote children's development, we call for policies that enhance participation in the welcoming society for refugee families. Early integration with low-threshold access to health and educational facilities can help to mitigate the wide-ranging negative consequences of forced displacement on young children's development.
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Background: There is a lack of evidence-based app guidance for parents of children with crying, sleeping, and feeding problems who are often highly burdened and not likely to seek professional help. A new psychoeducational app for parents providing scientifically sound information via text and videos, a diary function, selfcare strategies, a chat forum and a regional directory of specialized counseling centers may serve as a low-threshold intervention for this target group. Objective: We investigated how parents perceived the app in terms of the following: (1) overall impression and usability, (2) feedback on specific app functions regarding usefulness and (3) possible future improvements. Methods: Our clinical sample of N = 137 parents of children aged from 0 to 24 months was recruited from a cry baby outpatient clinic in Southern Germany between 2019 and 2022. A convergent parallel mixed methods design was used to collect and analyse cross-sectional data on app evaluation. After app use within the framework of a clinical trial, parents filled in an app evaluation questionnaire. Results: Most participants used the app at least once a week (86, 62.8 %) over an average period of 19.06 days (SD = 15.00). Participants rated overall impression and usability as good, and the informational texts, expert videos and regional register of counseling centers as appealing and useful. The diary function and chat forum were found to be helpful in theory, but improvements in implementation were requested, such as a timer function for the diary entry. Regarding future functionality, parents posed several suggestions such as the option to contact counseling centers directly via app, and the inclusion of the profile of their partners. Conclusions: Positive ratings of overall impression, usability, and specific app functions are important prerequisites for the app to be effective. App-based guidance for this target group should include easy-to-use information. The app is intended to serve as a secondary preventive low-threshold offer and to complement professional counseling.
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Using standardized test procedures is a reliable way of assessing early childhood development in the pediatric setting. However, normal population's developmental parameters may change over time. The aim of this study was to determine whether a change of developmental percentiles is present in infants in Germany during recent decades. Measured by an established German diagnostic instrument (Münchener Funktionelle Entwicklungsdiagnostik) we cross-sectionally compared developmental data (cognition, expressive language, language comprehension, fine and gross motor skills, social development, daily-living skills) of children aged 0-36 months collected in the 1970s and in 2018. N = 2065 children and their parents were included (1970s sample: N = 1660 and 2018 sample: N = 405). The T-Test of dependent variables showed nonsignificant differences in the developmental scales. We hypothesized an infant Flynn effect, but the results of this study suggest that there are no developmental changes associated with the 50th percentile. Nevertheless, it is critical to emphasize the need for periodic revision and re-norming of developmental test procedures, even in the absence of significant changes in individual items.
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Desenvolvimento Infantil , Deficiências do Desenvolvimento , Lactente , Criança , Humanos , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Cognição , AlemanhaRESUMO
Mental health problems in early childhood are common, but there is a lack of psychiatric research on this age group. DC:0-5 is a multiaxial classification system for mental disorders in early childhood, providing a framework for standardizing clinical practice and research. However, research on the validity of DC:0-5 is scarce. The Developmental Psychiatry Diagnostic Challenges Study (DePsy) is a multi-site, prospective clinical study including six German early childhood mental health (ECMH) clinics. The main objective of the study is to contribute to the validation of Axis I and Axis II of DC:0-5. A second aim of the study is to describe the population of the participating clinics regarding diagnoses, family context, and treatment outcomes. Additionally, the impact of environmental risk factors, including parental Adverse Childhood Experiences (ACEs) and media use, on child psychopathology and caregiver-child relationships will be examined. Over two years, patients aged 0.0-5.9 years old will be enrolled in the study. Assessments include ICD-10 and DC:0-5 diagnoses, developmental tests, video-based observations of caregiver-child interactions, and questionnaires on child psychopathology, media use, parental stress, and treatment satisfaction. Study results will promote the standardization of assessment and treatment in ECMH clinics aiming to improve the development of patients and their families.
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To evaluate a standardized play observation as a measure of young children's mental health and development in a clinical and refugee population. We conducted individual play observations with 70 refugee children aged 3- to 6-years and compared them to a clinical group of 111 age-matched children regarding their level of play development, social interaction during play, traumatic re-enactments, and emotionless-cold play. Additionally, we assessed children's mental health, social-emotional development and markers of adversity by parent and educator report as well as their IQ-test scores and learning performance and related these factors to the play variables. Play variables were significantly correlated with IQ-test scores (r = 0.184, p = 0.037), learning performance (r = 0.208, p = 0.010) and vocabulary (r = 0.208, p = 0.021) in the comparison group and with social-emotional development in educator report (r = 0.368, p = 0.011), time spent in Germany (r = 0.342, p < 0.001) and parental distress (r = - 0.292, p = 0.034) in the refugee group. Children with more parent-reported adverse experiences showed less social-interactive play in the overall sample (r = - 0.178, p = 0.011). Our child-centered approach to standardized play observation augments information obtained from parent and educator reports and can provide valuable insights in subgroups where other commonly used tests are not available or applicable.
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BACKGROUND: One of the primary causes in children with cerebral palsy (CP) leading to gait disorders is an increased muscle tone which may secondary result in a shortening of the muscle fascia. Percutaneous myofasciotomy (pMF) is a minimal-invasive surgical intervention correcting the shortened muscle fascia and aims to extend the range of motion. RESEARCH QUESTION: What is the effect of pMF on gait in children with CP three months and one year post-OP? METHODS: Thirty-seven children (f: n = 17, m: n = 20; age: 9,1 ± 3,9 years) with spastic CP (GMFCS: I-III, bilateral (BSCP): n = 24, unilateral (USCP): n = 13) were retrospectively included. All children underwent a three dimensional gait analysis with the Plug-in-Gait-Model before (T0) and three months after pMF (T1). Twenty-eight children (bilateral: n = 19, unilateral: n = 9) underwent a one-year follow-up-measurement (T2). Differences in the Gait Profile Score (GPS), kinematic gait data, gait-related functions and mobility in daily living were statistically analyzed. Results were compared to a control group (CG) matched in age (9,5 ± 3,5 years), diagnosis (BSCP: n = 17; USCP: n = 8) and GMFCS-level (GMFCS I-III). This group was not treated with pMF but underwent two gait analyses in twelve months. RESULTS: The GPS improved significantly in BSCP-pMF (16,46 ± 3,71° to 13,37 ± 3,19°; p < .0001) and USCP-pMF (13,24 ± 3,27° to 10,16 ± 2,06°; p = .003) from T0 to T1 with no significant difference between T1 and T2 in both groups. In CG there was no difference in the GPS between the two analyses. SIGNIFICANCE: PMF may in some children with spastic CP improve gait function three months as well as for one-year post-OP. Medium and long-term effects, however, remain unknown and further studies are needed.
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Paralisia Cerebral , Transtornos Neurológicos da Marcha , Humanos , Criança , Recém-Nascido , Estudos Retrospectivos , Paralisia Cerebral/complicações , Paralisia Cerebral/cirurgia , Seguimentos , Espasticidade Muscular/cirurgia , Espasticidade Muscular/complicações , Marcha/fisiologia , Transtornos Neurológicos da Marcha/cirurgia , Transtornos Neurológicos da Marcha/complicaçõesRESUMO
About 20% of all healthy infants and toddlers show problems in the area of mental health during their first years of life such as inconsolable crying (so-called cry-babies), sleeping problems, and feeding problems. The prevalence of enduring feeding problems and sleeping problems is distinctly higher in premature children and in children with neuropediatric disorders. These problems present a higher risk for the development of internalizing and externalizing disorders of mental health in later childhood. The parent-child relationship is often strained. Parents report experiencing severe exhaustion, extreme uncertainty, and helplessness.Pediatricians and midwives are the first points of contact for families. Outpatient clinics for cry-babies such as the "Munich Consultation for Cry-Babies," founded by Mechthild Papousek in 1991 at the kbo-Children's Center Munich, provide a low-threshold service for the highly stressed families. They can contribute to the prevention of neglect, maltreatment, and psychological secondary disorders of the child. Intervention strategies are based on parent-infant and attachment research and integrate child- and parent-oriented approaches.During the COVID-19 pandemic, psychosocial stress factors in families increased. This development was also observable in the outpatient clinics for cry-babies.
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COVID-19 , Transtornos da Alimentação e da Ingestão de Alimentos , Transtornos do Sono-Vigília , Lactente , Humanos , Pré-Escolar , Choro/psicologia , Pandemias , COVID-19/epidemiologia , Alemanha , Sono , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/terapiaRESUMO
BACKGROUND: Families with young children are particularly vulnerable for the stressors induced by the COVID-19 pandemic. However, studies on their psychosocial situation during the course of the crisis are still sparse. METHODS: In a comparison of three survey waves (wave I and III = high COVID-19 incidences), we cross-sectionally investigated the proportion of families (Ntotal = 2940) with children aged 0-3 years experiencing pandemic burden, parenting stress, and parental and child mental health problems in relation to COVID-19 incidences and restrictions in Southern Germany via validated questionnaires. Potential influencing factors were also explored. RESULTS: The number of parents with a high pandemic burden decreased over the course of the pandemic with a peak of 65.3% in wave I (significant changes except wave II versus III). Participants with high parenting stress significantly increased from 38.2% in wave I to 51.2% in wave III. The number of parents with symptoms of depression and anxiety remained constantly high with a maximum of 28.4% being affected. Infants with crying/sleeping problems increased significantly from 26.4% in wave I to 35.5% in wave III. Toddlers' emotional and behavioral problems showed a peak of 23.9% in wave III (no significant changes). Increased family conflicts were the strongest predictor for parenting stress (ß = 0.355), maternal (ß = 0.305), infants' (ß = 0.149) and toddlers' (ß = 0.216) mental health problems during the pandemic. CONCLUSIONS: Psychosocial stress factors in families with infants and toddlers remained highly pronounced and even partly increased irrespective of pandemic events. The findings suggest a staggered negative impact of pandemic-related factors on young children's mental health. Promoting infants' mental health as well as strengthening parental resources by reducing parenting stress should be a top healthcare priority in the aftermath of COVID-19. Trial registration The study was pre-registered in OSF ( https://osf.io/search/?q=tksh5&page=1 ).
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BACKGROUND: Cognitive impairment is a common medical issue in rat sarcoma (RAS) pathway disorders, so-called RASopathies, like Neurofibromatosis type 1 (NF1) or Noonan syndrome (NS). It is presumed to be caused by impaired synaptic plasticity. In animal studies, pathway-specific pharmacological interventions with lovastatin (LOV) and lamotrigine (LTG) have been shown to improve synaptic plasticity as well as cognitive function. The aim of this clinical trial is to translate the findings of animal studies to humans and to probe the effect of lovastatin (NS) and lamotrigine (NS and NF1) on synaptic plasticity and cognitive function/alertness in RASopathies. METHODS: Within this phase IIa, monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (syn. SynCoRAS), three approaches (approaches I-III) will be carried out. In patients with NS, the effect of LTG (approach I) and of LOV (approach II) is investigated on synaptic plasticity and alertness. LTG is tested in patients with NF1 (approach III). Trial participants receive a single dose of 300 mg LTG or placebo (I and III) and 200 mg LOV or placebo (II) daily for 4 days with a cross-over after at least 7 days. Synaptic plasticity is investigated using a repetitive high-frequency transcranial magnetic stimulation (TMS) protocol called quadri-pulse theta burst stimulation (qTBS). Attention is examined by using the test of attentional performance (TAP). Twenty-eight patients are randomized in groups NS and NF1 with n = 24 intended to reach the primary endpoint (change in synaptic plasticity). Secondary endpoints are attention (TAP) and differences in short interval cortical inhibition (SICI) between placebo and trial medication (LTG and LOV). DISCUSSION: The study is targeting impairments in synaptic plasticity and cognitive impairment, one of the main health problems of patients with RASopathies. Recent first results with LOV in patients with NF1 have shown an improvement in synaptic plasticity and cognition. Within this clinical trial, it is investigated if these findings can be transferred to patients with NS. LTG is most likely a more effective and promising substance improving synaptic plasticity and, consecutively, cognitive function. It is expected that both substances are improving synaptic plasticity as well as alertness. Changes in alertness may be a precondition for improvement of cognition. TRIAL REGISTRATION: The clinical trial is registered in ClinicalTrials.gov (NCT03504501; https://www. CLINICALTRIALS: gov ; date of registration: 04/11/2018) and in EudraCT (number 2016-005022-10).
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Cognição , Plasticidade Neuronal , Humanos , Lamotrigina , Método Duplo-Cego , Anticonvulsivantes/uso terapêutico , Lovastatina/uso terapêuticoRESUMO
BACKGROUND: Physical surroundings of healthcare facilities are suggested to influence young patients' well-being and hospitalization experiences. PURPOSE: The current research seeks to understand young patients' views and perspectives of the hospital lobby and inpatient rooms. Thus, a qualitative study was carried out in a social pediatric clinic for young patients with disabilities, developmental delays, behavioral problems, and chronic health conditions, that is undergoing reconstruction. METHOD: Operating from a critical realist position, the study employed arts-based methods in conjunction with semi-structured interviews. The data were explored by employing thematic analysis. RESULTS: 37 young people between the age of four and 30 years participated in the study. The analysis illustrates that the built environment should contain comforting and joyful elements, while enabling patients' autonomy. The ideal lobby was depicted as open and accessible and an ideal patient room as practical and adapted to personal needs. CONCLUSION: It is suggested that disabling and medicalized spatial arrangements and features may restrict young people's sense of control and autonomy, while possibly posing a barrier to a health-promoting environment. Large and open spaces with comforting and distracting features are cherished by patients and may be embedded in a comprehensive, yet simple overall design and structural concept.
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Pessoas com Deficiência , Hospitalização , Criança , Humanos , Adolescente , Pré-Escolar , Adulto Jovem , Adulto , Hospitais , Pacientes , Quartos de Pacientes , Pesquisa QualitativaRESUMO
BACKGROUND: Excessive crying, sleeping, and feeding problems in early childhood are major stressors that can result in parents feeling socially isolated and having low self-efficacy. Affected children are a risk group for being maltreated and developing emotional and behavioral problems. Thus, the development of an innovative and interactive psychoeducational app for parents of children with crying, sleeping, and feeding problems may provide low-threshold access to scientifically based information and reduce negative outcomes in parents and children. OBJECTIVE: We aimed to investigate whether following the use of a newly developed psychoeducational app, the parents of children with crying, sleeping, or feeding problems experienced less parenting stress; gained more knowledge about crying, sleeping, and feeding problems; and perceived themselves as more self-effective and as better socially supported and whether their children's symptoms decreased more than those of the parents who did not use the app. METHODS: Our clinical sample consisted of 136 parents of children (aged 0-24 months) who contacted a cry baby outpatient clinic in Bavaria (Southern Germany) for an initial consultation. Using a randomized controlled design, families were randomly allocated to either an intervention group (IG; 73/136, 53.7%) or a waitlist control group (WCG; 63/136, 46.3%) during the usual waiting time until consultation. The IG was given a psychoeducational app that included evidence-based information via text and videos, a child behavior diary function, a parent chat forum and experience report, tips on relaxation, an emergency plan, and a regional directory of specialized counseling centers. Outcome variables were assessed using validated questionnaires at baseline test and posttest. Both groups were compared at posttest regarding changes in parenting stress (primary outcome) and secondary outcomes, namely knowledge about crying, sleeping, and feeding problems; perceived self-efficacy; perceived social support; and child symptoms. RESULTS: The mean individual study duration was 23.41 (SD 10.42) days. The IG reported significantly lower levels of parenting stress (mean 83.18, SD 19.94) after app use compared with the WCG (mean 87.46, SD 16.67; P=.03; Cohen d=0.23). Furthermore, parents in the IG reported a higher level of knowledge about crying, sleeping, and feeding (mean 62.91, SD 4.30) than those in the WCG (mean 61.15, SD 4.46; P<.001; Cohen d=0.38). No differences at posttest were found between groups in terms of parental efficacy (P=.34; Cohen d=0.05), perceived social support (P=.66; Cohen d=0.04), and child symptoms (P=.35; Cohen d=0.10). CONCLUSIONS: This study provides initial evidence of the efficacy of a psychoeducational app for parents with child crying, sleeping, and feeding problems. By reducing parental stress and increasing knowledge of children's symptoms, the app has the potential to serve as an effective secondary preventive measure. Additional large-scale studies are needed to investigate long-term benefits. TRIAL REGISTRATION: German Clinical Trials Register DRKS00019001; https://drks.de/search/en/trial/DRKS00019001.
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Choro , Pais , Lactente , Humanos , Criança , Pré-Escolar , Pais/psicologia , Poder Familiar , Sono , EmoçõesRESUMO
BACKGROUND: The life expectancy of individuals with trisomy 21 (Down syndrome, DS) has risen to more than 60 years over the past few decades. As a result, diseases arising in mid and later life have become an issue of major concern in the care of individuals with DS. This article discusses and summarizes, from a multidisciplinary perspective, the diseases commonly affecting this population. METHODS: This narrative review is based on publications identified by a selective literature search, extrapolation of the available evidence, and the authors' personal experience. RESULTS: Robust epidemiological evidence indicates that many different diseases, which are dealt with by many different medical specialties, are more common in individuals with DS. The genetic background of some of these diseases is now understood down to the molecular level, e.g., primary hypothyroidism or Alzheimer's disease in DS. Recent gains in epidemiological and pathophysiological understanding contrast with a dearth of evidence on treatment for most of these disorders. CONCLUSION: In view of the complexity of DS-associated morbidity, it would be desirable for DS-specific multidisciplinary care to be made available to patients with DS.
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Doença de Alzheimer , Síndrome de Down , Idoso , Pessoa de Meia-Idade , Humanos , Síndrome de Down/epidemiologia , Expectativa de VidaRESUMO
Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, involved in nucleo-cytoplasmic trafficking. By querying sequencing-datasets of patients with dystonia and/or Leigh(-like) syndromes, we identified 3 unrelated individuals with biallelic variants in NUP54. All variants clustered in the C-terminal protein region that interacts with NUP62. Associated phenotypes were similar to those of NUP62-related disease, including early-onset dystonia with dysphagia, choreoathetosis, and T2-hyperintense lesions in striatum. In silico and protein-biochemical studies gave further evidence for the argument that the variants were pathogenic. We expand the spectrum of NPC component-associated dystonic conditions with localized basal-ganglia abnormalities. ANN NEUROL 2023;93:330-335.
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Distonia , Distúrbios Distônicos , Complexo de Proteínas Formadoras de Poros Nucleares , Humanos , Corpo Estriado , Distonia/genética , Distúrbios Distônicos/genética , Neostriado , Complexo de Proteínas Formadoras de Poros Nucleares/genéticaRESUMO
Background: The use of digital media (e.g., smartphones, tablets, etc.) and the Internet have become omnipresent for every age group and are part of children's and parents' everyday life. Focusing on young children, the availability of media devices, their use as well as associated problems (e.g., in social, emotional and motor development) have increased in recent years. Of particular interest for prevention of these problems in early childhood is the relationship between the familial context (parental digital media use, Problematic Internet Use, school graduation, presence of siblings) and the digital media use of infants and toddlers. The present study's goal was to describe media usage in 0-4-year-old children and to identify the potential relationship between familial context factors and child media usage. Methods: The sample included N = 3,035 children aged 0 to 3;11 years (M = 17.37 months, SD = 13.68; 49.13% female). Recruitment took place within the framework of a restandardization study for a German developmental test. The parents of the participants answered a questionnaire on socio-demographics, on child media use, and on parental media use. Questions on parental media use included the full version of the Short Compulsive Internet Use Scale (S-CIUS). Results: Significant increases in media usage times with child age were identified, but no significant gender differences. A multiple regression analysis revealed that increasing maternal total media usage time, a higher parental S-CIUS score, lower school leaving certificate of both mother and father, and increasing child's age led to higher child media usage time. Having siblings diminished young children's media usage in this study. Having more than one child and having children aged over a year was associated with a higher parental S-CIUS score. Conclusion: Family factors such as maternal media use time, Problematic Internet Use and lower school graduation are significantly associated with young children's digital media use. Parents should be aware of their personal influence on their children's media use which might be due their role in terms of model learning.
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Internet , Pais , Lactente , Humanos , Feminino , Pré-Escolar , Recém-Nascido , Masculino , Pais/psicologia , FamíliaRESUMO
INTRODUCTION: Although shared genetic factors have been previously reported between dystonia and other neurologic conditions, no sequencing study exploring such links is available. In a large dystonic cohort, we aimed at analyzing the proportions of causative variants in genes associated with disease categories other than dystonia. METHODS: Gene findings related to whole-exome sequencing-derived diagnoses in 1100 dystonia index cases were compared with expert-curated molecular testing panels for ataxia, parkinsonism, spastic paraplegia, neuropathy, epilepsy, and intellectual disability. RESULTS: Among 220 diagnosed patients, 21% had variants in ataxia-linked genes; 15% in parkinsonism-linked genes; 15% in spastic-paraplegia-linked genes; 12% in neuropathy-linked genes; 32% in epilepsy-linked genes; and 65% in intellectual-disability-linked genes. Most diagnosed presentations (80%) were related to genes listed in ≥1 studied panel; 71% of the involved loci were found in the non-dystonia panels but not in an expert-curated gene list for dystonia. CONCLUSIONS: Our study indicates a convergence in the genetics of dystonia and other neurologic phenotypes, informing diagnostic evaluation strategies and pathophysiological considerations.
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Distonia , Distúrbios Distônicos , Transtornos Parkinsonianos , Ataxia/genética , Distonia/diagnóstico , Distonia/genética , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/genética , Exoma , Humanos , Mutação , Transtornos Parkinsonianos/genética , FenótipoRESUMO
BACKGROUND: Psychosocial stress during the COVID-19 pandemic is increasing particularly in parents. Although being specifically vulnerable to negative environmental exposures, research on psychosocial stress factors in infants' and toddlers' families during the pandemic is so far sparse. The CoronabaBY study investigates the perceived pandemic burden, parenting stress and parent and child mental health problems in families with children aged 0-3 years in Bavaria, Southern Germany. Further, the relationships between these psychosocial stressors are examined and sociodemographic characteristics that may be predictive of these factors will be explored. METHODS: Participants were cross-sectionally surveyed via smartphone app. Standardized questionnaires on perceived pandemic burden, parenting stress, parental symptoms of depression and anxiety, infants' crying, sleeping and feeding problems or toddlers' emotional and behavioral problems were applied. RESULTS: N = 991 parents (Mage = 33.7 years, SD = 4.5; 93.7% mothers, 91.5% born in Germany) with infants (n = 554; Mage = 5.9 months, SD = 3.0) or toddlers (n = 435; Mage = 25.9 months, SD = 6.5) participated in the first half-year of 2021. Sixty-five percent of the parents perceived a high pandemic burden, 37.7% experienced parenting stress and 24.1% showed affective symptoms (anxiety: 30.1%, depression: 18.5%). Feeding problems, crying/ sleeping problems and multiple regulatory problems were found in 34.8%, 26.2% and 13.5% of the infants, respectively. Amongst toddlers, 8.5% showed noticeable behavior and emotional problems. Children`s mental health problems correlated moderately with parenting stress and parental affective symptoms and weakly with perceived pandemic burden. A lower financial status, higher parental education and increasing child age were significant but weak predictors for higher parenting stress, affective symptoms and higher psychological problems in children. CONCLUSIONS: A majority of the surveyed families with infants and toddlers experience the pandemic as stressful. The main challenges are parental affective symptoms and limited resources for childcare due to parenting stress. Overall, infants and toddlers show similar levels of mental health problems when being compared to pre-pandemic studies, but staggered detrimental effects on children`s mental health might occur if the stressful conditions persist. This is already indicated by correlations between parental and child psychosocial stress factors.
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BACKGROUND: Heterozygous familial hypercholesterolemia (FH) represents the most frequent monogenic disorder with an estimated prevalence of 1:250 in the general population. Diagnosis during childhood enables early initiation of preventive measures, reducing the risk of severe consecutive atherosclerotic manifestations. Nevertheless, population-based screening programs for FH are scarce. METHODS: In the VRONI study, children aged 5-14 years in Bavaria are invited to participate in an FH screening program during regular pediatric visits. The screening is based on low-density lipoprotein cholesterol measurements from capillary blood. If exceeding 130 mg/dl (3.34 mmol/l), i.e. the expected 95th percentile in this age group, subsequent molecular genetic analysis for FH is performed. Children with FH pathogenic variants enter a registry and are treated by specialized pediatricians. Furthermore, qualified training centers offer FH-focused training courses to affected families. For first-degree relatives, reverse cascade screening is recommended to identify and treat affected family members. RESULTS: Implementation of VRONI required intensive prearrangements for addressing ethical, educational, data safety, legal and organizational aspects, which will be outlined in this article. Recruitment started in early 2021, within the first months, more than 380 pediatricians screened over 5200 children. Approximately 50 000 children are expected to be enrolled in the VRONI study until 2024. CONCLUSIONS: VRONI aims to test the feasibility of a population-based screening for FH in children in Bavaria, intending to set the stage for a nationwide FH screening infrastructure. Furthermore, we aim to validate genetic variants of unclear significance, detect novel causative mutations and contribute to polygenic risk indices (DRKS00022140; August 2020).
Assuntos
Hiperlipoproteinemia Tipo II , Idoso de 80 Anos ou mais , Criança , Diagnóstico Precoce , Humanos , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/epidemiologia , Hiperlipoproteinemia Tipo II/genética , Programas de RastreamentoRESUMO
As IQ tests are commonly used as key assessment method, we address the question whether our commonly used standardized IQ tests are appropriate for children from families of diverse cultures and different educational levels in a refugee population. We examined 109 refugee children aged 3-7 years (M = 5.10 years, SD = 1.25) with the "Kaufman Assessment Battery for Children " (KABC-II; Kaufmann & Kaufmann, 2015) on a language-free scale (Scale of Intellectual Functioning, SIF) and learning performance (subtest Atlantis). With a non-verbal IQ of 81.5 (SD = 18.01), the population mean of the refugee children is more than one standard deviation lower than the mean of the German norm population. Standardized scores follow the normal distribution and are not correlated to any of the assessed markers of adversity (flight duration, time spent in Germany, child PTSD in parent rating, parental symptom load, and parental education level).Conclusion: The interpretation of IQ test results for refugee children should be done cautiously as results may underestimate their cognitive capacity. Environmental factors, such as high illiteracy among parents in this study, the lack of institutional education of children and high lifetime stress, may explain our findings.Trial registration: DRKS00021150. What is Known: ⢠There is a high pervasiveness for the use of standardized IQ tests in the German health and education system to determine eligibility for special education and social services. What is New: ⢠Refugee children score significantly lower than German children in a language-free IQ test. As results are normally distributed and not correlated to any of the assessed markers of adversity, the low scores in the refugee group might be due to missing formal education.