Search Results (211)

Background/Objectives: Rubinstein–Taybi Syndrome (RSTS-OMIM, #180849) is a rare genetic disorder associated with distinctive clinical features, including a typical craniofacial appearance, global developmental delay, intellectual disability and broad, angular thumbs and fingers. The main aim of the study was to evaluate the health problems of children with RTST, their quality of life and the impact of the disease on family functioning. In addition, we investigate whether comorbidities, autistic behavior and eating problems affect the children’s overall QOL. Methods: A cross-sectional study was performed, including a total of 13 caregivers of children diagnosed with RSTS. A self-reported questionnaire [SRQ], medical records and the Pediatric Impact Module PedsQL^TM 2.0, the Pediatric Quality of Life PedsQL^TM 4.0 were used to obtain data on QOL and the impact of the disease on family functioning. Results: The overall QOL score for children with RSTS was x = 52.40; SD 13.01. The highest QOL was in emotional functioning (EF; x = 59.23; SD 18.69), while the lowest QOL was in physical functioning (PF; x = 48.56; SD 16.32) and social functioning (SF; x = 48.85; SD 18.84). There was a statistically significant negative correlation (p < 0.03; r = −2.01) between the age of the child and their QOL, indicating that older children had lower QOL scores. The mean overall rating for the impact of RSTS on family functioning was x = 50.00; SD 10.91. Caregivers reported the highest scores for cognitive functioning (CF; x = 64.23; SD 23.70) and family relationships (FR; x = 60.00; SD 17.17). The lowest scores were for daily activities (DA; x = 41.03; SD 17.17) and worry (W; x = 37.69; SD 18.55). Conclusions: This study provides the first comprehensive exploration of the QOL of children with RSTS) and its impact on family functioning. Full article

Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in severe disabilities and premature death. Progressive visual impairment is a common symptom. Currently, no overview of the manifold neuro-ophthalmologic manifestations and visual impact of leukodystrophies exists. Methods: Data from 217 patients in the Hamburg leukodystrophy cohort were analyzed retrospectively for neuro-ophthalmologic manifestations, age of disease onset, and magnetic resonance imaging, visual evoked potential, and optical coherence tomography findings and were compared with data from the literature. Results: In total, 68% of the patients suffered from neuro-ophthalmologic symptoms, such as optic atrophy, visual neglect, strabismus, and nystagmus. Depending on the type of leukodystrophy, neuro-ophthalmologic symptoms occurred early or late during the course of the disease. Magnetic resonance imaging scans revealed pathologic alterations in the visual tract that were temporally correlated with symptoms. Conclusions: The first optical coherence tomography findings in Krabbe disease and metachromatic leukodystrophy allow retinal assessments. Comprehensive literature research supports the results of this first overview of neuro-ophthalmologic findings in leukodystrophies. Full article

Background. No device is yet available to effectively capture the attentional repercussions of hypersomnolence (HYP). The present study aimed to compare attentional performance of children with HYP, attention deficit hyperactivity disorder (ADHD), and controls using behavioral and electrophysiological (EEG) markers, and to assess their relationship with conventional sleepiness measurements. Methods. Children with HYP underwent a multiple sleep latency test (MSLT) and completed the adapted Epworth sleepiness scale (AESS). Along with age-matched children with ADHD, they were submitted to a resting EEG followed by the Bron–Lyon Attention Stability Test (BLAST). The control group only performed the BLAST. Multivariate models compared reaction time (RT), error percentage, BLAST-Intensity, BLAST-Stability, theta activity, and theta/beta ratio between groups. Correlations between these measures and conventional sleepiness measurements were conducted in children with HYP. Results. Children with HYP had lower RT and BLAST-Stability than controls but showed no significant difference in BLAST/EEG markers compared to children with ADHD. The AESS was positively correlated with the percentage of errors and negatively with BLAST-Intensity. Conclusions. Children with HYP showed impulsivity and attention fluctuations, without difference from children with ADHD for BLAST/EEG markers. The BLAST–EEG protocol could be relevant for the objective assessment of attentional fluctuations related to hypersomnolence. Full article

Background/Objectives: We aimed to investigate the relationship between deformational plagiocephaly (DP) severity and anterior fontanelle size and to explore the connection between fontanelle size and developmental delay. Methods: We enrolled 189 (122 boys and 67 girls; mean corrected age, 119.79 days) of the 256 infants who visited our clinic for plagiocephaly between March 2022 and June 2023. This study analyzed the correlation between cranial vault asymmetry (CVA) and anterior fontanelle size as measured using skull anteroposterior (AP) radiography and ultrasonography. The severity of DP was graded from minimal to severe based on the Argenta classification. Infants were grouped according to CVA severity as follows: Group 1 (CVA ≤ 5 mm), Group 2 (5 mm < CVA < 10 mm), and Group 3 (CVA ≥ 10 mm). Additionally, 40 infants underwent the Denver Developmental Screening Test II (DDST-II) for neurodevelopmental delays and were divided into groups based on the presence or absence of developmental delays for fontanelle size comparison. Results: Age showed a significant negative correlation with fontanelle size (correlation coefficient −0.234, p < 0.05), indicating that fontanelle size decreases as infants age. No significant differences in fontanelle size were observed among the three CVA groups (p = 0.074) or between the developmentally delayed and non-delayed groups (p = 0.09). This study found no correlation between CVA and fontanelle size or between fontanelle size and developmental delay. Conclusions: The findings show that, while anterior fontanelle size decreased with age, there was no significant correlation between the fontanelle size and the severity of deformational plagiocephaly or developmental delays. Full article

Background: The angiotensin-converting enzyme inhibitor (ACEI) enalapril is often administered to infants and young children with heart failure (HF) in various dosing regimens and formulations not adapted for their age. Methods: This prospective, two-center, open-label 8-week study evaluated an age-appropriate formulation of orodispersible minitablets (ODMTs) of enalapril (0.25 mg and 1 mg) in children aged 0 to 6 years with HF due to congenital heart disease. An age/weight-based dosing schedule was followed. Measures of echocardiographic parameters, blood pressure, heart rate, modified Ross score, and biochemistry were obtained over the 8-week period. The following two groups were assessed: ACEI-naïve and ACEI-pretreated patients. Results: In total, 53 children (age range of 0.05 to 4.8 years) were enrolled and 29 were ACEI-naïve. The average enalapril dose was 0.098 mg/kg (0.06–0.17 mg/kg) in the naïve group and 0.15 mg/kg (0.07–0.3 mg/kg) in pretreated patients. After 8 weeks, the modified Ross score and left ventricular diastolic dimension (LVD) z-score showed a significant decrease in both groups (p < 0.005). During 8 weeks follow-up, there were no difference in the z-scores for the systolic blood pressure (p = 0.071) or heart rate (p = 0.146). Conclusions: Pediatric patients treated with ODMTs of enalapril for 8 weeks had favorable improvements in LVD and HF symptoms. Full article

Background: Young children with spinal muscular atrophy type 1 (SMA1) have limited independent mobility and participation that may lead to cognitive development delays. Implementing early powered mobility in interventions may help them to learn self-initiated movement, play, and having fun to participate in natural settings. The aim of this study is to evaluate the effectiveness of an early power mobility intervention for increasing participation, functional ability, and quality of life in young children with SMA1. Methods: AMEsobreRuedas is a randomized waiting list controlled clinical trial. A sample of 24 children (10 months-5 years old, with SMA1) will be randomly allocated to two groups. The experimental group will perform a family-centered intervention with powered mobility for 16 weeks in their natural environment: a 12-week-structured program three times a week; and a 4-week follow-up with free use of the powered mobility device. The control group (waiting list) will keep their routine and will receive the same intervention after the experimental group. Five assessments will be carried out at baseline and weeks 4, 8, 12, and 16. Primary outcomes are participation (YC-PEM); functional ability (PEDI-CAT); and quality of life (PedsQL-Neuromuscular module). Results: It is expected that this study will provide further knowledge about the positive impact of powered mobility for the analyzed variables. Moreover, family engagement in the intervention and establishment of functional goals may help to add valuable information about real needs in future research. Conclusions: Early powered mobility could increase the opportunities for children with SMA1 to learn to move independently and participate in their natural environment. Full article

Background/Objectives: Recent guidelines on early intervention in children at high risk of cerebral palsy (CP) recommend parental involvement and family-centered home-based interventions with parents as primary trainers. Therapist coaching by home visitation is resource demanding, and telerehabilitation is a viable option for remote intervention and coaching. This study aims to describe parents’ experiences of engaging in Baby-mCIMT coached remotely. Their infants are at high risk of unilateral cerebral palsy and the parents have been the primary trainers in regard to home-based intervention, optimizing the use of the affected hand. Methods: A qualitative approach involving semi-structured interviews with eight parents was employed. Data were analyzed using qualitative content analysis. Results: The overarching theme “Parents in the driver’s seat—learning through remote coaching to create conditions to enhance the child’s motor skills” describes parents’ experiences as primary training providers. The following three underlying categories with subcategories were identified: (1) Baby-mCIMT coached remotely in an everyday context—practical and technical prerequisites; (2) the child’s response and the therapists’ coaching supports active parental learning; (3) capability and sense of control—strengthening and demanding aspects. Conclusions: Our findings revealed that Baby-mCIMT coached remotely empowered the parents as primary trainers, which provided them with opportunities for understanding and learning about their child and their development. The findings underscore the importance of responsive professional guidance and a strong therapist–parent relationship to succeed with the Baby-mCIMT program coached remotely and to manage the digital coaching format. Full article

Introduction: The rapid spread of the COVID-19 pandemic has had a significant impact on the psychological well-being of millions of people around the world, and even more so among children. Contracting SARS-CoV-2, resulting in home confinement and restrictions on daily and school activities, led to negative effects on the mental health of the paediatric population. Although children suffering from COVID-19 had milder general symptoms compared to adults, impairments in cognitive, neuropsychological, and emotional-behavioural development were noted. Objective: The main aim of the present study was to detect possible changes in the neuropsychological and emotional-behavioural development of children after infection with the SARS-CoV-2 virus. The second aim was to investigate possible relationships between cognitive abilities and psychosocial characteristics. Methods: A total of 40 patients aged 8–9 years were recruited and divided into two groups: children who contracted (CG) and did not contract (NCG) SARS-CoV-2. The BVN 5–11 (Neuropsychological evaluation battery for developmental age from 5 to 11 years) instrument was administered to assess attention, memory, verbal recall, planning, phonemics, and categorical fluency domains in the paediatric population. Data on changes in emotional-behavioural profile and daily activities were collected through a questionnaire to parents. Results: The Wilcoxon signed-rank test revealed a significant change in mood after the COVID-19 period only in the CG participants (p = 0.019). However, the neuropsychological performance of the two identified groups on BVN 5–11 sub-items was below the cutoff of clinical significance. Correlations were found between sub-items of the BVN 5–11 battery, extracurricular activities, and children’s psycho-motor development. Significant positive correlations were observed between Naming on visual presentation and Reading time (p = 0.006), backward digit span and time of motor activity (p = 0.009), Visual attention and Reading time (p = 0.048), and Phonemic fluency and time observed using devices (p = 0.030). Positive statistically significant correlations were also found between Mood and Free behaviour (p = 0.000), between Mood and Structured behaviour (p = 0.005), and between Mood and peer Interaction (p = 0.013). Conclusions: SARS-CoV-2 infection negatively affected the emotional development of children contracting the virus. The neuropsychological functioning of the paediatric population was influenced by psychosocial variables and time spent on daily activities, which played a protective role in children’s cognitive development. Full article

Introduction: Bronchiectasis, characterized by airway dilation, mucus hypersecretion, and recurrent exacerbations, is increasingly recognized in children and adolescents. Recent guidelines from the European Respiratory Society (ERS) and Thoracic Society of Australia and New Zealand (TSANZ) emphasize early diagnosis and optimized management. This review explores therapeutic strategies for pediatric bronchiectasis. Materials and methods: Our review involved a comprehensive search of English-language literature in the PubMed and EMBASE databases until December 2023, focusing on observational studies, interventions, reviews, and guidelines in pediatric bronchiectasis. Results: Management strategies encompass airway clearance techniques, mucoactive agents, pulmonary rehabilitation, bronchodilators and inhaled corticosteroids tailored to individual needs and age-appropriate techniques. Antibiotics play key roles in preventing exacerbations, eradicating pathogens, and managing acute exacerbations, which are guided by culture sensitivities and symptoms. Long-term antibiotic prophylaxis, particularly macrolides, aims to reduce exacerbations, although concerns about antibiotic resistance persist. Vaccinations, including pneumococcal and influenza vaccines, are crucial for preventing infections and complications. Surgery and lung transplantation are reserved to severe, refractory cases after failure of medical therapies. Conclusions: The optimal management of pediatric bronchiectasis requires a multidisciplinary approach, including physiotherapy, pharmacotherapy, and vaccinations, tailored to individual needs and guided by evidence-based guidelines. Further research is needed to refine diagnostic and therapeutic strategies and improve outcomes for affected children and adolescents. Full article

Malnutrition, which includes macro- and micronutrient deficiencies, is common in individuals with allergic dermatitis, food allergies, rhinitis, and asthma. Prolonged deficiencies of proteins, minerals, and vitamins promote Th2 inflammation, setting the stage for allergic sensitization. Consequently, malnutrition, which includes micronutrient deficiencies, fosters the development of allergies, while an adequate supply of micronutrients promotes immune cells with regulatory and tolerogenic phenotypes. As protein and micronutrient deficiencies mimic an infection, the body’s innate response limits access to these nutrients by reducing their dietary absorption. This review highlights our current understanding of the physiological functions of allergenic proteins, iron, and vitamin A, particularly regarding their reduced bioavailability under inflamed conditions, necessitating different dietary approaches to improve their absorption. Additionally, the role of most allergens as nutrient binders and their involvement in nutritional immunity will be briefly summarized. Their ability to bind nutrients and their close association with immune cells can trigger exaggerated immune responses and allergies in individuals with deficiencies. However, in nutrient-rich conditions, these allergens can also provide nutrients to immune cells and promote health. Full article

Background: Mycoplasma pneumoniae (MP) is a significant respiratory pathogen leading to community-acquired pneumonia (CAP), especially in children. Up to 30% of confirmed MP cases can develop dermatological symptoms, with Mycoplasma pneumoniae-induced rash and mucositis (MIRM) being a distinct clinical entity marked by mucous membrane inflammation, with or without skin lesions. Methods: This case report describes a 7-year-old girl admitted with fever, stomatitis, conjunctivitis, and skin lesions. On the second day, a painful neck enlargement was observed, with ultrasound confirming bilateral submandibular salivary gland inflammation and elevated serum amylase levels. The patient later developed pneumonia, confirmed via chest X-ray and pleural ultrasound. MP infection was confirmed via specific IgM antibodies and PCR in a throat swab. Results: The patient was diagnosed with MIRM and was treated with clarithromycin, amoxicillin with clavulanic acid, and methylprednisolone, resulting in a full recovery. Conclusions: This case highlights a unique presentation of MIRM with salivary gland inflammation, not previously described in pediatric mycoplasmal infections. Full article

Background: Caregiving experiences in rare diseases (RDs) vary based on factors such as specific clinical entity, disease severity, the child’s age, and available support and resources, leading to challenges that significantly impact caregivers’ lives. This study investigates whether caregivers of children with different RDs encounter varied aspects of care. Methods: This study was conducted as a self-administered, anonymous, computer-assisted online survey, focusing on the challenges of caregiving for children with RDs. Questions covered aspects such as information availability on RDs, diagnostic processes, modern treatment accessibility, family physicians and specialists, the impact of caregiving on personal life, family dynamics, and financial challenges. To achieve our study objectives, we categorized caregivers of children with RDs into two groups to compare various aspects of caregiving: caregivers of children with phenylketonuria (PKU) (n = 175) and those caring for children with life-limiting rare diseases (LLRD) (n = 226). Results: Caregivers of children with LLRD reported greater emotional challenges, personal sacrifices, and financial burdens compared to caregivers of children with PKU. Significant differences included heightened emotional distress, more frequent conflicts, and lower assessments of healthcare support among LLRD caregivers. Although family support ratings were similar between the groups, perceptions of financial concerns and interactions with the healthcare system varied significantly. Conclusions: This study, representing the inaugural systematic comparison of specific caregiver cohorts overseeing children with RDs across a substantial sample size, provides valuable insights. The findings lay a crucial foundation for precisely tailoring assistance and support initiatives to meet the unique needs of caregivers facing various RDs in diverse contexts. Full article

Myelin oligodendrocyte glycoprotein antibody disease (MOGAD) is characterized by multiple phenotypic conditions such as acute disseminated encephalomyelitis, optic neuritis, and myelitis. MOGAD’s spectrum is expanding, with potential symptoms of increased intracranial pressure that are similar to idiopathic intracranial hypertension (IIH). We report a boy with new-onset continuous headache and a brain MRI at onset suggesting idiopathic intracranial hypertension (IIH). The patient showed resistance to treatment with acetazolamide and, after one month, developed optic neuritis in the left eye. Laboratory tests documented positive MOG antibodies (anti-MOG) in the serum. The final diagnosis was MOGAD, with the initial symptoms resembling IIH. Full article

Background: The aim of this study was to investigate treatment outcomes in adolescents who underwent laparoscopic surgery with an ultrasonic scalpel for symptomatic varicocele compared with adolescents who underwent surgery with a polymer clip. Methods: A total of 270 adolescents with a median age of 16 (interquartile range, IQR 13–17) years were included in the study. Taking into account the laparoscopic varicocelectomy technique used, the patients were divided into two groups. In the first group (n = 151), a polymer clip was used, while in the second group (n = 119), an ultrasonic scalpel was used to resect the spermatic vessels. The primary outcome measure was the effect of the laparoscopic technique used on treatment outcomes (postoperative complications and recurrence rates). Secondary outcomes were the duration of surgery and anesthesia and the length of hospital stay. Results: The duration of the surgical procedure (12 min (IQR 11, 15) versus 15 min (12, 19), p = 0.029) and anesthesia (21.5 min (16, 29.5) versus 28 min (23, 34), p = 0.003) was shorter in the group of adolescents in whom laparoscopic varicocelectomy was performed with an ultrasonic scalpel than in the group in which a polymer clip was used. No statistically significant difference was found between the groups studied in terms of length of hospital stay, recurrence rate (p >0.999), and complications (p = 0.703). There were no cases of testicular atrophy in either group. In the group of patients who underwent laparoscopic varicocelectomy with an ultrasonic scalpel, a slightly higher incidence of hydroceles was found (n = 4, 3.4%) than in the group in which a polymer clip was used (n = 2, 1.3%) (p = 0.410). At six-month follow-up, it was found that the majority of patients showed moderate or significant improvement in the spermogram after laparoscopic varicocelectomy (n = 85, 89.5%). In addition, the subjective discomfort or pain disappeared in the majority of patients (n = 71, 93.4%). The testicular volume increased significantly in 132 adolescents (89.8%). Conclusions: Laparoscopic varicocelectomy with a polymer clip or ultrasonic scalpel is safe and effective in adolescents with symptomatic varicocele. Treatment outcomes after laparoscopic varicocelectomy are the same regardless of whether a polymer clip or an ultrasonic scalpel is used to resect the spermatic vessels. The use of an ultrasonic scalpel for resection of the spermatic vessels shortens the overall duration of surgery and anesthesia. Full article

Background: Infantile tibia vara (ITV) is a rare proximal tibia deformity in infancy, leading to progressive knee varus. High tibial osteotomy is commonly practiced but has high recurrence rates. This study analyzed factors affecting treatment failure and recurrence in children undergoing opening-wedge high tibial osteotomy (OWHTO) for ITV. Methods: We retrospectively studied children with ITV who had OWHTO with a press-fit cancellous bone allograft between 2000 and 2020, with ≥2-year follow-up. Outcomes included recurrence (knee varus with tibiofemoral angle > 10°), complications, and reintervention. Results: We analyzed 39 knees in 29 patients (mean age: 4.8 ± 1.9 years; median follow-up: 7.4 years). Recurrence occurred in 22 cases (56%). Age at surgery significantly influenced recurrence, with rates of 16% before age 5 versus 95% later (hazard ratio: 12.0, p = 0.001). Langenskiöld stage also affected recurrence (β-coefficient: 2.7, 95% C.I. 1.0–4.5, p = 0.002; pseudo-R-squared: 0.50, p = 0.001), with recurrence in all stage IV or higher cases. Conclusions: Early diagnosis and treatment before age 5, ideally with Langenskiöld stage III or lower, are crucial for stable correction with OWHTO alone. Late, high-grade ITV may require combined, acute or gradual, and/or staged correction. Further evidence is needed for optimal management. Full article