Brain functional and structural changes in diabetic children. How can intellectual development be optimized in type 1 diabetes?

The neuropsychological functioning of people with type 1 diabetes (T1D) is of key importance to the effectiveness of the therapy, which, in its complexity, requires a great deal of knowledge, attention, and commitment. Intellectual limitations make it difficult to achieve the optimal metabolic balance, and a lack of this alignment can contribute to the further deterioration of cognitive functions. The aim of this study was to provide a narrative review of the current state of knowledge regarding the influence of diabetes on brain structure and functions during childhood and also to present possible actions to optimize intellectual development in children with T1D. Scopus, PubMed, and Web of Science databases were searched for relevant literature using selected keywords. The results were summarized using a narrative synthesis. Disturbances in glucose metabolism during childhood may have a lasting negative effect on the development of the brain and related cognitive functions. To optimize intellectual development in children with diabetes, it is essential to prevent disorders of the central nervous system by maintaining peri-normal glycemic levels. Based on the performed literature review, it seems necessary to take additional actions, including repeated neuropsychological evaluation with early detection of any cognitive dysfunctions, followed by the development of individual management strategies and the training of appropriate skills, together with complex, multidirectional environmental support.

Intellectual development in children with type 1 diabetes Disturbances in glucose metabolism during childhood may have a lasting negative effect on the development of the brain and related cognitive functions. To optimize intellectual development in children with type 1 diabetes, it is essential to prevent disorders of the central nervous system by maintaining close to normal glycemic levels. Based on the performed literature review, it seems necessary to take additional actions, including repeated neuropsychological evaluation with early detection of cognitive dysfunctions, followed by the development of individual management strategies, and the training of appropriate skills, together with complex, multidirectional environmental support.

DDX3X Syndrome Behavioral Manifestations with Particular Emphasis on Psycho-Pathological Symptoms-A Review.

(1) Background: Identification of typical behavioral manifestations in patients with DEAD-Box Helicase 3 X-linked gene (DDX3X) variants plays a crucial role in accurately diagnosing and managing the syndrome. The objective of this paper was to carry out a review of medical and public databases and assess the behavioral features of the DDX3X syndrome (DDX3X), with a particular focus on psycho-pathological symptoms. (2) Methods: An extensive computerized search was conducted in various databases, including PubMed, Medline Complete, Science Direct, Scopus, and Web of Science. Specific keywords and Medical Subject Headings were used to ensure the inclusion of relevant studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were applied to assess the methodological quality of the manuscripts. (3) Results: Only nine papers out of the 272 assessed met the inclusion criteria. These articles revealed various psycho-pathological manifestations in patients with the DDX3X syndrome. Intellectual disability (ID) or developmental disability (DD), speech delay, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), generalized anxiety disorder (GAD), self-injurious behaviors (SIBs), sensory symptoms and sleep disturbance were demonstrated to be the most common psycho-pathological behavior manifestations. (4) Conclusions: Patients with the DDX3X syndrome manifest a wide spectrum of psycho-pathological symptoms. A comprehensive investigation of these symptoms in patients is essential for early diagnosis and effective therapy.

Neuropsychological Aspects of Children's Somatic Disorders in Chronic Diseases: Diabetes and Short Stature in the Developmental Period.

Intellectual functioning studies carried out amongst children indicate that chronic diseases like type 1 diabetes and growth hormone deficiency (GHD), may, but do not necessarily, result in intellectual loss. Cognitive functions may decline as a child becomes older, as a disease persists over time and/or due to non-compliance with treatment recommendations or high stress levels. This study aimed to assess the cognitive functioning of children and youths with T1D and GHD-related short stature compared to healthy children. METHODS: The study was carried out on 88 children with type 1 diabetes, 38 children suffering from short stature caused by (GHD), as well as a control group comprising 40 healthy children. Weschler's tests were applied to measure intellectual and cognitive functions. RESULTS: The results suggest that for children suffering from type 1 diabetes and short stature, their chronic childhood diseases per se do not impair cognitive development. It was observed that the higher the age of chronically ill children and the longer the disease persists, the lower their scores in individual cognitive subtests. For healthy children, age is correlated with the acquisition of particular skills and higher scores in specific subtests. CONCLUSIONS: On the basis of qualitative analysis of the cognitive functions subject to the study and close clinical observation of chronically ill children, we have been able to conclude that chronic diseases may alter cognitive functioning.

Disturbances of the stomatognathic system and possibilities of its correction in patients with craniofacial morphea.

Morphea en coup de sabre and progressive hemifacial atrophy are extremely rare connective tissue disorders causing facial deformity. In extreme cases, morphological disorders are accompanied by symptoms of a clear impairment of the stomatognathic system. The aetiology of the above-mentioned diseases is still unknown. Properly planned therapy in the field of maxillofacial orthopaedics makes it possible to correct the asymmetric pattern of hard tissue growth and thus enable rehabilitation. The task of augmentation techniques is the volumetric supplementation of tissue defects resulting from atrophic processes. The degree of destruction and the extent of changes determine the method of correction. Mild and moderate defects are treated mainly with biomaterials and autologous adipose tissue. The severe course of hemifacial atrophy and morphea en coup de sabre and the associated significant tissue atrophy necessitate the search for more complex methods of treatment. In this paper, we summarize the disturbances of the stomatognathic system in patients with craniofacial morphea, together with an analysis of current treatment options.

Psychosomatic symptoms associated with traumatic events experienced in medical students.

OBJECTIVES: Many facts indicate the important role of psychosomatic symptoms that occur due to traumatic events. This study is an analysis of the coexistence of psychosomatic symptoms and traumatic events. Though not every person taking part in these events develops a fully symptomatic post-traumatic stress disorder (PTSD), psychosomatic symptoms with a strong psychological component are observed in many. This study focuses on a comparison of the intensity of somatization, anxiety, depression, and distress of medical university students, who encountered a traumatic event and those who have not experienced trauma. MATERIAL AND METHODS: The data was collected from 594 students of different academic majors at the Poznan University of Medical Sciences, Poland. The participants were asked if they had experienced situations that caused psychological trauma as well as about the intensity of their psychosomatic symptoms. The data was collected with 2 questionnaires: Post-traumatic Stress Diagnostic Scale and Four-Dimensional Symptom Questionnaire. RESULTS: The study reveals that 78% of students experienced a traumatic event, in 15% moderate and severe symptoms of PTSD are observed, 45% presents average and high stress levels, 23% experiences symptoms of depression, whereas 30% has anxiety and 26% somatic symptoms. CONCLUSIONS: Studies show that experiencing traumatic events in life is linked to the higher intensity of an/the entire range of psychosomatic symptoms. Int J Occup Med Environ Health. 2023;36(5):606-17.

The use of botulinum toxin for grinding in patients with Rett syndrome-Case report.

AIMS: Rett syndrome (RTT) is a neurodevelopmental disorder caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene. It is characterized by profound and severe motor disability. Patients with RTT grind their teeth, causing damage to their permanent teeth. This article aims to describe the case of an 8-year-old child with RTT and the methods of botulinum toxin-based treatment for teeth grinding. METHODS AND RESULTS: Surface electromyography (sEMG) was used to monitor the effects of treatment. The masseter and temporal muscles, responsible for the elevation of the mandible, were injected with botulinum toxin. The results of the sEMG examination performed 1 week, 1 month and 4 months after toxin administration were compared to the sEMG conducted before treatment. The research demonstrates a significant reduction in both grinding frequency and tension of the masseter and temporal muscles. CONCLUSION: Possible adverse effects after chronic use of botulinum toxin were discussed. The article also emphasizes the need for masticatory muscle rehabilitation during botulinum toxin therapy. However, it is necessary to repeat this procedure on a larger group of children with RTT to establish our efforts' efficacy.

Novel Therapeutic Strategies in the Treatment of Systemic Sclerosis.

Systemic sclerosis is a connective tissue disease of unknown origin and with an unpredictable course, with both cutaneous and internal organ manifestations. Despite the enormous progress in rheumatology and clinical immunology, the background of this disease is largely unknown, and no specific therapy exists. The therapeutic approach aims to treat and preserve the function of internal organs, and this approach is commonly referred to as organ-based treatment. However, in modern times, data from other branches of medicine may offer insight into how to treat disease-related complications, making it possible to find new drugs to treat this disease. In this review, we present therapeutic options aiming to stop the progression of fibrotic processes, restore the aberrant immune response, stop improper signalling from proinflammatory cytokines, and halt the production of disease-related autoantibodies.

The Masticatory Structure and Function in Children with Cerebral Palsy-A Pilot Study.

(1) Background: Muscle tension around the head and neck influences orofacial functions. The data exist concerning head posture during increased salivation; however, little is known about muscle tightness during this process. This study aims to investigate whether or not any muscles are related to problems with eating, such as drooling in individuals with cerebral palsy; (2) Methods: Nineteen patients between the ages of 1 and 14 were examined prior to the physiotherapy intervention. This intervention lasted three months and consisted of: relaxing muscles via the strain-counterstrain technique, functional exercises based on the NeuroDevelopmental Treatment-Bobath method, and functional exercises for eating; (3) Results: the tone of rectus capitis posterior minor muscle on the left side (p = 0.027) and temporalis muscle on the right side (p = 0.048) before the therapy, and scalene muscle on the right side after the therapy (p = 0.024) were correlated with drooling behavior and were considered statistically significant. Gross motor function was not considered statistically significant with the occurrence of drooling behavior (p ≤ 0.05). Following the therapeutic intervention, the frequency of drooling during feeding decreased from 63.16% to 38.89% of the total sample of examined patients; (4) Conclusions: The tightness of the muscles in the head area can cause drooling during feeding.

Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.

Many unbalanced large copy number variants reviewed in the paper are associated with syndromic orofacial clefts, including a 1.6 Mb deletion on chromosome 3q29. The current report presents a new family with this recurrent deletion identified via whole-exome sequencing and confirmed by array comparative genomic hybridization. The proband exhibited a more severe clinical phenotype than his affected mother, comprising right-sided cleft lip/alveolus and cleft palate, advanced dental caries, heart defect, hypospadias, psychomotor, and speech delay, and an intellectual disability. Data analysis from the 3q29 registry revealed that the 3q29 deletion increases the risk of clefting by nearly 30-fold. No additional rare and pathogenic nucleotide variants were identified that could explain the clefting phenotype and observed intrafamilial phenotypic heterogeneity. These data suggest that the 3q29 deletion may be the primary risk factor for clefting, with additional genomic variants located outside the coding sequences, methylation changes, or environmental exposure serving as modifiers of this risk. Additional studies, including whole-genome sequencing or methylation analyses, should be performed to identify genetic factors underlying the phenotypic variation associated with the recurrent 3q29 deletion.

Psychological Implications to the Therapy of Systemic Lupus Erythematosus.

Systemic lupus erythematosus (SLE) is a chronic and multi-systemic autoimmune disease, which has a deleterious impact on patients' psychological well-being. This paper aims to review the existing literature on empirical research on psychological outcomes of SLE and psychological interventions to improve well-being in SLE patients. A search of significant English language articles was conducted in PubMed, Medline, ScienceDirect, Scopus, and ResearchGate databases. Titles and abstracts were screened for the relevant terms, including "systemic lupus erythematosus", "childhood-onset systemic lupus erythematosus", "juvenile systemic lupus erythematosus", "lupus nephritis", and their respective synonyms along with "depression", "anxiety", "fatigue", "medical adherence", "health-related quality of life", "self-management" or "intervention". The articles were evaluated by independent reviewers and the lists of eligible publications were compared whilst disagreements were settled by discussion. Of the 59 publications sought for retrieval, 35 papers were shortlisted based on predefined inclusion/exclusion criteria. They were classified according to their content and the methodology applied. Research topics including "anxiety and depression in SLE" and "self-management interventions for SLE patients" were identified and are presented in this review. As the prognosis and life expectancy of SLE patients are improving, further research on the psychological outcomes of SLE and the evidence-based psychological interventions to improve patients' well-being are justified.

The Importance of Monitoring Neurodevelopmental Outcomes for Preterm Infants: A Comparison of the AIMS, GMA, Pull to Sit Maneuver and ASQ-3.

BACKGROUND: Clinicians and parents should closely monitor the neurodevelopment of very preterm infants. The aim of our study was to compare whether neurodevelopmental assessments completed by parents and those done by specialists yielded similar outcomes. We wanted to check whether the assessments completed by specialists and parents were comparable in outcomes to emphasize the important roles of early assessment of a child and of the parents in their child's treatment and medical care. Another aim was to check whether or not the pull to sit maneuver from the Neonatal Behavioral Assessment Scale (NBAS) is still a parable item in well-known scales of neurodevelopment. METHODS: We assessed 18 preterm neonates in the fourth month of corrected age with scales such as the General Movement Assessment (GMA), the Alberta Infant Motor Scale (AIMS), and the pull to sit maneuver from the NBAS. Finally, we asked parents to complete the Ages and Stages Questionnaire, Third Edition (ASQ-3). RESULTS: We found that the respective assessments completed by specialists and parents are comparable in outcomes. We also found that the pull to sit item from the NBAS was still a valid test since it showed similar findings to those from the AIMS, the GMA, and the ASQ-3. CONCLUSIONS: The pull to sit item from the NBAS is an important item for assessment of very preterm infants. Specialists should also take into consideration the input and concerns of parents when planning for treatment and intervention.

The Evaluation of Facial Muscles by Surface Electromyography in Very Preterm Infants.

BACKGROUND: It is reported that 40% of preterm infants have problems with eating. Neonatal feeding disorders may be one of the factors increasing neonatal mortality. The aim of our study was to evaluate the muscles involved in suckling and swallowing in premature newborns using surface electromyography (sEMG). We would like to objectively describe the tension of muscles engaged in feeding in order to properly plan the therapy. Another aim was to compare sEMG measurements to gestational age, birth weight, and umbilical blood pH to show which parameters put children at risk of feeding problems. METHODS: Sixteen preterm neonates with gestational age less than 32 weeks, birth weight less than 1500 g, and oral feeding difficulties were analyzed for muscle response and electrical activity of nerves using sEMG (surface electromyography). RESULTS: We found a negative correlation indicating that preterm infants with a younger gestational age had higher suprahyoid muscle tension, and a positive correlation was found between pH value and suprahyoid muscles. The lower the pH value, the lower the tension in the suprahyoid muscles. CONCLUSIONS: sEMG may be a helpful diagnostic tool in the evaluation of the masticatory system of premature infants. Due to the abnormal tone of the muscles responsible for swallowing, it is advisable to rehabilitate as early as possible.

The Influence of Parent Education on the Neurobehavior and Sucking Reflexes of Very Preterm Infants.

The diagnosis of neurobehavioral problems in very preterm neonates helps with planning and applying proper and direct therapeutic interventions. (1) Background: The aim of this study was to determine the direct impact of neurobehavior on the sucking reflex and eating abilities of neonates. (2) Methods: We assessed 18 preterm neonates twice hospitalized at the Gynecology and Obstetrics Clinical Hospital through the use of the Neonatal Behavioral Assessment Scale (NBAS). (3) Results: We found that that a neonate's sucking ability positively correlated with the activity level item from the motor system cluster of the NBAS. (4) Conclusions: Neurobehavior should be closely assessed in very preterm neonates. Firstly, because assessments can detect fundamental problems and help a practitioner plan for early intervention. Secondly, the education of parents regarding the neurobehavior of their child can help in the facilitation of feeding skills and the planning of early rehabilitation.

Autistic-like Behaviors Associated with a Novel Non-Canonical Splice-Site DDX3X Variant: A Case Report of a Rare Clinical Syndrome.

Background. Heterozygous pathogenic variants in the DDX3X gene account for 1−3% of females with intellectual and developmental disabilities (IDD). The clinical presentation is variable, including a wide range of neurological and behavioral deficits and structural defects of the brain. Approximately 52% of affected females remain nonverbal after five years of age. Case presentation: We report a 7 year old nonverbal female with a likely novel de novo pathogenic heterozygous variant in the DDX3X gene affecting the non-canonical splice-site in the intron 1 (NM_001356:c.45+12G>A). The patient presents with features typical for the DDX3X phenotype, such as: movement disorders, behavioral problems, a diagnosis of autism spectrum disorder (ASD), and some other features uncommon for DDX3X such as: muscle hypertonia and spinal asymmetry evaluated through the scoliometer. Conclusions. Due to its rare occurrence, the clinical picture of DDX3X syndrome is yet to be fully determined. So far, behavioral disorders, including those from ASD, and neurological abnormalities seem to be the dominant features of this disorder.

Relationship between stress and alexithymia, emotional processing and negative/positive affect in medical staff working amid the COVID-19 pandemic.

The psychological burden of the COVID-19 pandemic may have a lasting effect on emotional well-being of healthcare workers. Medical personnel working at the time of the pandemic may experience elevated occupational stress due to the uncontrollability of the virus, high perceived risk of infection, poor understanding of the novel virus transmission routes and unavailability of effective antiviral agents. This study used path analysis to analyze the relationship between stress and alexithymia, emotional processing and negative/positive affect in healthcare workers. The sample included 167 nurses, 65 physicians and 53 paramedics. Sixty-two (21.75 %) respondents worked in COVID-19-designated hospitals. Respondents were administered the Toronto Alexithymia Scale-20, Cohen's Perceived Stress Scale, Emotional Processing Scale, and the Positive and Negative Affect Schedule. The model showed excellent fit indices (χ2 (2)=2.642, p=0.267; CFI=0.999, RMSEA=0.034, SRMR=0.015). Multiple group path analysis demonstrated physicians differed from nurses and paramedics at the model level (X2diff (7)=14.155, p<0.05 and X2diff (7)=18.642, p<0.01, respectively). The relationship between alexithymia and emotional processing was stronger in nurses than in physicians (difference in beta=0.27; p<0.05). Individual path χ2 tests also revealed significantly different paths across these groups. The results of the study may be used to develop evidence-based intervention programs promoting healthcare workers' mental health and well-being.

Mental Health Outcomes Associated with COVID-19 Pandemic in a Group of Health Care Professionals.

Analysis of health care workers' stress levels during the COVID-19 virus pandemic, and whether there is a relationship between health care workers' stress levels and mental health in the context of coping with stress. One hundred and seventy professionally active health care workers took part in the study: doctors (n=41), nurses (n=114) and paramedics (n = 15). On average, study subjects were 37 years old and had 14 years of work experience. The following were used in this questionnaire-based study: General Health Questionnaire (GHQ-28), Perceived Stress Scale (PSS-10), Mini-COPE - Coping Inventory. The research group experienced high levels of stress. Nurses experienced the most acute stress. Increasing stress levels are accompanied by an intensification of psychopathological symptoms (insomnia and depression). Older individuals and those with more years worked at work experienced less psychopathological symptoms. Non-adaptive stress coping methods (e.g. use of psychoactive substances) resulted in deteriorating mental health within the research group. Habitual use of non-adaptive strategies may bring relief in the short term in the form of reduced negative consequences of stress transactions and facilitate mobilisation or just sufficient performance at work. However, in the longer term, it may lead to deteriorating health. The obtained data shows that positive reinterpretation, age and length of work track record constitute protective factors against deteriorating health.

Application of the Neonatal Behavioral Assessment Scale to Evaluate the Neurobehavior of Preterm Neonates.

BACKGROUND: The neonatal behavioral assessment scale (NBAS) was primarily developed to aid in the assessment of full-term neonates. The aim of this study was to detect if the NBAS was also valuable in the assessment of preterm neonates. MATERIALS AND METHODS: We assessed 112 infants at a neonatal unit using the NBAS, 4th edition. The inclusion criteria included an oxygen saturation level between 88-95% and a heartrate of 100-205 beats per minute. Infant neurobehavior was assessed using the NBAS. RESULTS: For full-term and preterm neonates, we observed that the NBAS enabled us to assess both groups of infants and gave relevant information pertaining to them. We found a significant correlation between the average week of gestation and response to touch, sensory input, peak of excitement, cost of attention, hand-to-mouth, and quality of alertness. CONCLUSIONS: The NBAS is a valuable scale for evaluating the neurobehavior of preterm neonates. The week of gestation at birth affects certain aspects of neurobehavior, such as response to sensory input, putting hand to mouth, peak of excitement, and cost of attention. The NBAS as an individually structured assessment may help in planning for early rehabilitation and intervention for this vulnerable population.

Impact of umbilical cord arterial pH, gestational age, and birth weight on neurodevelopmental outcomes for preterm neonates.

BACKGROUND: The aim of this study was to determine the impact of umbilical cord arterial pH, gestational age, and birth weight on neurodevelopmental outcomes for preterm neonates. METHODS: We examined 112 neonates. Inclusion criteria were: Saturations greater than 88%, and heart rates between 100-205 beats per minute. MEASUREMENTS: We assessed several neurodevelopmental factors as part of the Brazelton Neonatal Behavioral Assessment Scale (NBAS), 4th edition, such as asymmetric tonic neck reflex (ATNR), motor maturity, response to sensory stimuli, habituation, and state regulation. Initial assessment parameters such as APGAR score and umbilical cord arterial pH were used to assess neonates. RESULTS: We found a strong correlation between the presence of the sucking reflex and umbilical cord arterial pH (r = 0.32; p = 0.018981). Umbilical cord arterial pH was also correlated with the presence of asymmetric tonic neck reflex (r = 0.27; p = 0.047124), cost of attention (r = 0.31; p = 0.025381) and general motor maturity (r = 0.34; p = 0.011741). CONCLUSIONS: We found that the sucking reflex may be affected in infants with low umbilical cord arterial pH values. Practitioners and parents can use the NBAS to help determine neurodevelopmental factors and outcomes in preterm infants, possibly leading to safer and more effective feeding practices and interventions.

Environmental stress and the quality of life connected with COVID-19 among people in Poland and the Netherlands.

OBJECTIVES: In addition to physical damage, COVID-19 also has a serious impact on the mental health of society. For many people, this involves the necessity of adapting to new conditions, uncertainty about the future and a tremendous mental burden. It was investigated whether there were any differences between the 2 measures (before and during the COVID-19 pandemic) in the levels of perceived stress, anxiety, life satisfaction and experienced emotions. MATERIAL AND METHODS: The study, conducted in Poland and the Netherlands, involved 168 people. The metric, the Positive and Negative Experience Scale, the Perceived Stress Scale, the and the Satisfaction With Life Scale were used. The subjects were divided into 3 groups: non-immigrants living in Poland (N = 50), Dutch citizens (N = 56), and Polish immigrants living in the Netherlands (N = 62). RESULTS: The level of stress and negative emotions was higher in the groups of Poles living in Poland and Poles living in the Netherlands than in the group of Dutch citizens. Therefore, access to psychological care should be improved during the pandemic, especially for immigrants, due to the increased risk of developing stress-induced mental disorders. CONCLUSIONS: In the groups of Poles, there was an increase in perceived stress and trait anxiety during the COVID-19 pandemic. The group of Dutch citizens experienced a reduction in the anxiety level during the COVID-19 pandemic. In the group of Polish immigrants, there was an increase in life satisfaction during the COVID-19 pandemic. Int J Occup Med Environ Health. 2021;34(2):177-88.

Dysfunctional Coping Mediates the Relationship between Stress and Mental Health in Health-Care Staff Working amid the COVID-19 Pandemic.

OBJECTIVE: This cross-sectional study aimed to assess the stress outcomes in health-care staff working during the COVID-19 pandemic and to explore the role of coping in the relationship between stress outcomes and mental health dimensions with Preacher & Hayes's mediation analysis. SUBJECTS AND METHODS: One hundred seventy participants including physicians (n = 41; 24.1%), nurses (n = 114, 67.1%), and paramedics (n = 15, 8.8%) with a mean age of 37.69 ± 12.23 years and an average seniority of 14.40 ± 12.32 years were administered the Toronto Alexithymia Scale-20, Cohen's Perceived Stress Scale (PSS-10), the Emotional Processing Scale, and Positive and Negative Affect Schedule. The data were analyzed by estimation of simple correlation coefficients and a Preacher and Hayes's mediation procedure. RESULTS: Participants reported elevated levels of stress (7-8 sten on the sten scale developed for the PSS-10 questionnaire). Statistically significant differences in the stress levels between nurses, paramedics, and physicians could not be determined. In contrast, significant association between mental health outcomes and the occupational category could not be found. CONCLUSION: Our observations support the assumption about a controlling role of coping in the relationship between work-related stress, alexithymia, emotional processing loneliness and positive/negative affect in medical staff working amid pandemic.