Search Results (98)

India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations. COVID-19 further exacerbated the issues with such sample sharing. Congenital Hyperinsulinism (CHI) is a rare genetic disorder of pancreatic β-cells causing hypoglycaemia in children due to abnormal insulin secretion. Given India’s high birth rate and consanguineous populations, annual CHI cases are estimated to be around up to 10,000, with up to 50% having unexplained genetic causes. Diffuse or atypical lesions in such patients often necessitate near-total-pancreatectomy, risking pancreatic exocrine insufficiency and diabetes, requiring lifelong therapy. Also, novel genetic variations complicate accurate diagnosis, risk assessment, and counselling, emphasising the need for rapid genetic assessment to prevent neurological injuries and inform treatment decisions. Despite significant efforts at many institutes, there are no dedicated organisations for CHI in India. With the implementation of the National Policy for Rare Diseases 2021, we plan to form a non-profit organisation, “Congenital Hyperinsulinism India Association (CHIA)”, comprising paediatric endocrinologists, paediatricians, geneticists, and independent researchers. The aims of this association are to generate a national database registry of patients, formulate a parent support group and CHIA consortium, design patient information leaflets, as well as foster genomic collaborations and promote clinical trials. Such steps will help sensitise the health authorities and policy makers, urging them to improve the allocation of health budgets for rare diseases, as well as empower patients and their families, contributing towards a better quality of life. Full article

Objectives: To analyse whether breastfeeding (BF) is related to better psychomotor development in the first two years of life. Methods: Prospective longitudinal study of a cohort of children born in Spain (between April 2017 and March 2018) and followed during the first two years of life by their primary care paediatrician in eight visits (LAyDI study—PAPenRed research network). The Haizea-Llevant development chart was used to assess the psychomotor development (DPM), and the subjects were divided according to whether or not they met each milestone. Results: The initial sample was 1946 children (50.1% boys), which varied at each visit from 1946 on the first and second visit to 1076 on the last visit; DPM at 12, 18 and 24 months was compared according to the type of BF at 6 months; at 24 months, significant differences were found in the achievement of milestones in the BF-at-6-months group (“scribbles spontaneously”, p 0.007 and “descends stair”, p 0.002). When comparing the mean duration of BF and exclusive breastfeeding, according to milestones reached or not, statistically significant differences were observed in more milestones at the 24-month visit, including “eats with a spoon” (5.6 months in the group that reached it vs. 2.4 months in the group that did not, p 0.014), and again for the milestone ‘scribbles spontaneously’ (5.6 months vs. 1.8 months, p 0.021), among others. Conclusions: In our study, psychomotor development in the first two years of life does not show major differences in relation to the type of feeding; from this age onwards, the differences may be greater. Many factors influence psychomotor development in the first years of life, with breastfeeding not being an isolated factor. Full article

Background: Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN IV), is an exceedingly rare genetic disorder characterized by the inability to perceive pain, inability to sweat, and various neurological and orthopaedic complications. Case Presentation: This is a case report of a 3-year-old female patient as the first case in Latvia diagnosed with CIPA syndrome who repeatedly presented to Children’s Clinical University Hospital (CCUH) in Riga, Latvia, with severe orthopaedic manifestations. The patient had repeated fractures, several surgeries, and extensive spread of the disease throughout the left leg, which caused significant functional impairment and decreased quality of life. Despite aggressive orthopaedic interventions, including surgical interventions and physical therapy, the patient’s condition remained challenging to manage due to the inherent limitations posed by the insensitivity to pain. The Surgeon–Radiologist Council of Doctors discussed the patient’s condition and clinical sequalae, deciding that reconstructive surgery is not feasible, and amputation is recommended. Conclusions: Through this case report, we aim to highlight the unique orthopaedic challenges encountered in the management of CIPA patients, emphasizing the importance of a multidisciplinary approach involving orthopaedic surgeons, paediatricians, geneticists, and physiotherapists. Additionally, we discuss the need for further research to elucidate optimal management strategies and improve outcomes in this rare and complex patient population. Full article

In neonates, estimation of the glomerular filtration rate is problematic, and assessment of renal impairment is challenging. Serum creatinine is a widely used marker, and urine output is an important vital parameter monitored in intensive care settings, particularly in unwell neonates. However, the rapid changes after birth with adaptation to the extrauterine environment is a unique situation in which absolute serum creatinine is not a reliable indicator of renal function. A rise in serum creatinine from the previous value during the neonatal period can be a result of worsening renal function in neonates but is dependent on many other factors. In addition, urine output can be difficult to measure in sick neonates during their intensive care stay. Despite a high prevalence of acute kidney injury (AKI) in preterm and/or unwell infants, the current definitions are not straightforward and do not take postnatal adaptation processes into account. The management of AKI is challenging in very young and small patients because the assessment of fluid status as well as balancing nutritional needs with fluid restriction can be problematic. The Australian Neonatal Medicines Formulary provides advice on drug dosing in the face of reduced renal function in neonates. Predictors (or long-term outcome, or recovery) after AKI diagnosis are still poorly described. Therefore, the diagnosis of neonatal AKI needs to be documented and transferred to the paediatrician responsible for the follow-up of the child. This educational review aims to give a perspective on neonatal kidney function and AKI, the relation of fluid balance and creatinine, the management of neonatal AKI and the consequences for drug dosing and long-term outcomes. Full article

Background: Awareness, diagnosis, and treatment of familial hypercholesterolemia (FH) starting from childhood are a cornerstone of cardiovascular disease prevention. The LIPIGEN Paediatric Group, a network of specialised centres for the diagnosis and management of familial genetic dyslipidemia, is an active part of this mission. Materials and Methods: This is the second exploratory survey organised within the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) paediatric centres. A digital questionnaire consisting of 16 questions was proposed to the principal investigators of 35 LIPIGEN centres in September 2023. We analysed the main FH screening strategies implemented in Italy, which are the referral characteristics to the lipid clinics and clinical and biochemical criteria considered to diagnose FH in paediatric patients. Results: Centres frequently reported conducting cascade screening (88.6%) and reverse screening (57.1%), whereas 28.6% of respondents indicated using selective screening and only 5.7% reported employing child–parent screening. We documented a detailed biochemical characterisation of paediatric patients (62.9% of respondents usually perform full lipoprotein profile and 80% determine lipoprotein(a) for each patient) and a high percentage of genetic analysis (82.9%). We have also highlighted a quite low awareness of FH as a genetic condition involving paediatric patients among primary care paediatricians and general practitioners. Conclusions: The results of our survey show that specialised lipid centres usually have good diagnostic competence when dealing with paediatric patients with hypercholesterolemia. However, FH awareness and the importance of early diagnosis and treatment initiation in childhood still need to be further improved. Full article

Background: Presentations of preterm labour at <25 weeks of gestational age (GA) require timely evidence-based counselling and management to optimise outcomes and facilitate informed decisions. In non-tertiary centres, this counselling is often especially challenging. Objectives: (1) To develop a tool to support counselling for preterm births at <25 weeks of GA, and (2) to refine and facilitate the utilisation of this tool and develop targeted supports through an understanding of challenges to providing counselling in non-tertiary centres. Methods: Perinatal risk factors and local outcome data were incorporated into a counselling tool. Semi-structured virtual interviews were conducted with participants with experience in counselling or receiving care at <25 weeks of GA in non-tertiary centres. Interviewees included transport team members, paediatricians, obstetricians, one family physician, and one parent. Analysis using interpretive description methodology was performed to identify themes in participant practice and experience. Results: A risk-based counselling tool was developed, including guidance for counselling discussions. Twenty-one interviews were completed. Practice challenges that were identified included a lack of updated knowledge on practices in tertiary centres, discomfort in providing counselling, variability in counselling content, and a variation in health care provider teams involved in counselling. All providers expressed a desire for further education in this area. Conclusions: Support for providers in non-tertiary centres in the counselling of periviable preterm families is much needed. The development of our practice tool targeted for non-tertiary centres provides an important step in this process. The next steps include responding to the expressed need from providers for education and training in the counselling and management of periviable preterm pregnancies. Full article

Even though children’s malignant bone tumours are rare, it is crucial to understand how to identify and stage them accurately to develop an appropriate treatment plan. Ewing’s sarcoma and osteosarcoma are the two main paediatric bone malignancies and require multidisciplinary treatment involving radiologists, orthopaedists, oncologists, pathologists, and paediatricians. These neoplasms may be associated with genetic syndromes but typically occur in patients with no known germline abnormalities. With a frequency of 4.4 per million, osteosarcoma is the most common malignant bone tumour in children. Ewing’s sarcoma has an incidence of 2.5 to 3 per million, making it the second most prevalent. Clinically, these neoplasms present with pain and inflammation in the bones and joints, nocturnal pain unresponsive to drug therapy, systemic symptoms such as fever or weight loss, and persistent symptoms—all of which should prompt clinicians to initiate further diagnostic investigations. The gold standard for diagnosis includes X-ray examination and MRI, which provide an accurate assessment of tumour extension into the medullary canal and surrounding soft tissues. Fluorine-18-labelled FDG-PET scans or fluoro-deoxyglucose positron emission tomography are valuable for evaluating tumour aggressiveness and excluding metastases. A biopsy is mandatory once all other diagnostic tests have been completed. Accurate diagnosis and timely referral to an experienced clinic are essential for ensuring prompt access to treatment and improving patient outcomes. Full article

Background/Objectives: Influenza vaccination is the main method for preventing influenza. The objectives of this study are to evaluate the opinions of families on influenza vaccination and to determine the acceptance of influenza vaccination as a routine vaccine in children under 5 years of age. Methods: The method used was a descriptive cross-sectional study based on an ad-hoc survey. Between October 2023 and January 2024, an online survey was conducted among families with children between 6 months and 14 years of age attending paediatric consultations at a health centre. Results: A total of 388 families were surveyed. Out of these, 22.68% reported having ever vaccinated their children against influenza. The main reason for having them vaccinated was having received the recommendation from the paediatrician (68.18%). While 53.61% agreed with routine influenza vaccination, 53.09% did not intend to vaccinate their children against influenza in the 2023/24 period. The reasons for not vaccinating in 2023/24 were unawareness of the disease (29.41%), fear of unwanted effects of vaccination (27.94%) and lack of information about vaccination (19.61%). The reasons for vaccination in 2023/24 were protection of the child (81.87%), recommendation by the paediatrician (43.41%) and protection of the general population and susceptible persons (20.33%). Conclusions: Routine influenza vaccination is accepted by half of the parents. A lack of risk perception of the disease, concern about vaccine safety and lack of information are the main reasons for not vaccinating. It is essential to follow the health professionals’ recommendation to vaccinate. Full article

Infantile haemangiomas (IHs) affect 3–10% of infants, 10% of whom need topical or systemic beta-blocker therapy. Propranolol is the first choice for IHs with a high risk of complications. Since more than half of IHs leave a permanent mark, to reduce outcomes, it is essential to start oral propranolol (2–3 mg/kg/day in 2 doses/day) within the 5th month of life (i.e., during the proliferative phase) and to complete the therapy cycle for at least 6 months. This review aims to summarise the epidemiology, clinical presentation, diagnosis, and treatment of IHs and to highlight the importance of proper referral to specialised hub centres. Patients with vascular anomalies, particularly those suspected of having IH, should be referred to a specialised centre for accurate diagnosis, management by a multidisciplinary team, and timely treatment. IHs may pose life-threatening, functional, and aesthetic risks or may ulcerate. Segmental infantile haemangioma of the face/neck and the lumbosacral regions can be associated with various malformations. To ensure timely specialist evaluation and treatment to reduce the potential risk of complications, it is essential to identify high-risk IHs rapidly. The Infantile Haemangioma Referral Score (IHReS) scale is an important tool to assist primary care paediatricians and general dermatologists. Full article

Hemifacial microsomia is the second most common congenital anomaly of the craniofacial region. Hemifacial microsomia is characterised by unilateral hypoplasia of the ear. Treatment of this condition depends on the severity of the lesion. The treatment of hemifacial microsomia must be carried out by a multidisciplinary group of professionals familiar with this pathology, including plastic surgeons, parapsychologists, orthodontists, and paediatricians. In hemifacial microsomia, microtia is usually accompanied by alterations of the middle ear. Since the ear develops embryonically from the first and second branchial arches, the facial areas that also develop from these embryonic origins are usually affected to a greater or lesser degree, including through hypoplasia of the jaw, maxilla, zygomatic bones, and temporal bone, among others. Although jaw hypoplasia is the most evident deformity in craniofacial microsomia, microtia is the alteration that often has the greatest aesthetic impact on patients. Alterations in dentition are also common, typically presenting as a cephalad inclination of the anterior occlusal plane of the maxilla and mandible on the affected side. This study aims to review the surgical approach and evaluate the results of a paediatric case of hemifacial microsomia. Hemifacial microsomia is present at birth, and successful reconstruction is essential for the correct integration of such infantile patients into society. Multiple facial asymmetries as well as neonatal onset are a challenge for reconstructive surgery, and the importance of multidisciplinary treatment in these patients must be emphasised. Full article

Peanut allergy, one of the most frequently occurring allergies, usually starts in childhood and rarely subsides—often persisting throughout adult life. Accidental exposure to peanuts can often result in adverse reactions ranging from mild to life-threatening, such as anaphylactic shock. Historically, food avoidance and the use of rescue drugs have remained a fundamental management mechanism for dealing with food allergy. However, prevention of adverse reactions to food allergy is playing an increasing role. This is possible through the early introduction of peanuts into the diet, especially in infants at risk of this allergy. In recent years, specific immunotherapy has been used to develop desensitisation and, in some patients, tolerance—defined as a persistent state of clinical non-reactivity to the allergen after therapy is finished. The aim of this article is to summarise the current state of knowledge on the prevention and treatment of peanut allergy, with a focus on clinical trials, current guidelines, and recent experimental studies. This review may be particularly useful for paediatricians and general practitioners. Full article

Congenital diarrhoeas and enteropathies (CODE) are a heterogeneous group of disorders. Many affected infants present with catastrophic dehydration in the first few days of life, although the clinical phenotype is variable. Advances in the understanding of underlying pathomechanisms and genetic testing, as well as improved management, in particular intravenous nutrition support, have allowed affected patients to survive well beyond childhood. Awareness and understanding of these rare diseases are hence needed, both amongst paediatricians and adult physicians. In this review, we discuss the different groups of disorders based on a review of the current literature and provide a diagnostic and therapeutic approach. Many of the subtypes of CODE result in the need for prolonged or indefinite parenteral nutrition. Further research is needed to identify new CODE to improve the recognition and management of these children, which can assist in developing new targeted therapies and potentially a long-term cure. Full article

Background: Malnutrition is a common situation in the Spanish paediatric population. Malnourished children may benefit from different strategies, including dietary modifications or nutritional supplements (NS). It is important to know the different factors that can influence treatment tolerance and adherence, and their impact on nutrition monitoring. Objectives: To explore the perception of doctors who prescribe nutritional supplements (NS) in children and to investigate different factors involved in tolerance and adherence. Material and methods: A cross-sectional, descriptive observational study based on an ad hoc electronic survey designed to study doctors’ perceptions of at least five of their children with NS and their families, subjected to outpatient follow up. Variables included were the socio-demographic variables of the doctors and children, nutritional status of the patients, amount and characteristics of NS (hyper-caloric oral with fibre (HOFF), oral peptide (OPF) and hyper-caloric infant (HIF)), route of administration, perceived benefits, satisfaction, palatability, adherence, and acceptance. Results: 815 patients aged 0–16 years (mean 10.6 years; SD 7.8) were included. A proportion of 64% received HOFF, 16% FOP, and 20% HIF. A proportion of 84% received exclusive oral NS. Total daily calorie intake prescribed with NS ranged from 30–75% in 48.2% of cases, though it was significantly higher in children under 6 months of age. Improvement in overall condition, nutritional status and quality of life was observed in 82%, 79.5%, and 80% of subjects. Improvement in tolerance and digestive symptoms was reported in 83.5% and 72% of subjects. The degree of satisfaction and acceptance of NS was very good in 80% of cases, with taste being the most influential factor (82.3%). Adherence was adequate in more than 60%, and smell was the most significant feature in lack of adherence (55%). The flavour of the best-accepted supplement was chocolate (44%). A total of 97% of prescribing doctors would recommend the same formula again. Conclusions: In our study, prescribing doctors and families perceived an excellent benefit from the use of the prescribed formulas, improved quality of life, high satisfaction, acceptance, and adherence. The positive factors for adequate adherence were sufficient information about the formulations and their benefits, and continuity of care during follow-up. Prescribing doctors would recommend supplement use again given the perceived benefits and satisfaction. Full article

Long outpatient waiting times pose a significant global challenge in healthcare, impacting children and families with implications for health outcomes. This paper presents the eHealth system called eADVICE (electronic Advice and Diagnosis Via the Internet following Computerised Evaluation) that is designed to address waiting list challenges for paediatricians. Initially designed for children’s incontinence, the system’s success in terms of health goals and user experience led to its adaptation for paediatric sleep problems. This paper focuses on user experiences and the development of a working alliance with the virtual doctor, alongside health outcomes based on a randomised controlled trial (N = 239) for incontinence. When reengineering eADVICE to sleep disorders, the promising results regarding the reciprocal relationship between user experience and building a working alliance encouraged a focus on the further development of the embodied conversational agent (ECA) component. This involved tailoring the ECA discussion to patient cognition (i.e., beliefs and goals) to further improve engagement and outcomes. The proposed eADVICE framework facilitates adaptation across paediatric conditions, offering a scalable model to enhance access and self-efficacy during care delays. Full article

Crying is a newborn’s main way of communicating. Despite their apparent similarity, newborn cries are physically generated and have distinct characteristics. Experienced medical professionals, nurses, and parents are able to recognize these variations based on their prior interactions. Nonetheless, interpreting a baby’s cries can be challenging for carers, first-time parents, and inexperienced paediatricians. This paper uses advanced deep learning techniques to propose a novel approach for baby cry classification. This study aims to accurately classify different cry types associated with everyday infant needs, including hunger, discomfort, pain, tiredness, and the need for burping. The proposed model achieves an accuracy of 98.33%, surpassing the performance of existing studies in the field. IoT-enabled sensors are utilized to capture cry signals in real time, ensuring continuous and reliable monitoring of the infant’s acoustic environment. This integration of IoT technology with deep learning enhances the system’s responsiveness and accuracy. Our study highlights the significance of accurate cry classification in understanding and meeting the needs of infants and its potential impact on improving infant care practices. The methodology, including the dataset, preprocessing techniques, and architecture of the deep learning model, is described. The results demonstrate the performance of the proposed model, and the discussion analyzes the factors contributing to its high accuracy. Full article