Article
Nutrition & Dietetics
Monia Kittana, Asma Ahmadani, Lily Stojanovska, Amita Attlee
Summary: Children with autism spectrum disorder (ASD) have lower vitamin D levels and the deficiency is strongly correlated with ASD severity. Vitamin D supplementation can significantly reduce ASD severity, but the effect may vary between treatment and control groups. Variations in vitamin D dose protocols and concurrent interventions may contribute to the variability of results. The age of introducing vitamin D intervention may also affect the effectiveness of treatment. Further long-term, well-designed randomized controlled trials are needed to confirm the impact of vitamin D on severity in children with ASD.
Article
Biochemistry & Molecular Biology
Zengyu Zhang, Jun Liu, Guojun Jiang, Hong Yu
Summary: This study examined the correlation between polymorphisms in the vitamin D receptor (VDR) gene and serum vitamin D levels in children with Autism Spectrum Disorder (ASD). The results showed that children with ASD had lower levels of serum vitamin D and a higher rate of vitamin D deficiency compared to healthy controls. However, the examined VDR SNPs were not correlated with serum vitamin D levels or vitamin D deficiency. Logistic regression analysis revealed that a specific genotype and vitamin D deficiency were associated with a higher risk of childhood ASD. These findings suggest that vitamin D could be a promising target for the prevention and treatment of ASD.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Biology
Ethiraj Ravindran, Nobuto Arashiki, Lena-Luise Becker, Kohtaro Takizawa, Jonathan Levy, Thomas Rambaud, Konstantin L. Makridis, Yoshio Goshima, Na Li, Maaike Vreeburg, Benedicte Demeer, Achim Dickmanns, Alexander P. A. Stegmann, Hao Hu, Fumio Nakamura, Angela M. Kaindl
Summary: Variants in the CRMP1 gene are discovered to be associated with neurodevelopmental disorders such as muscular hypotonia, intellectual disability, and/or autism spectrum disorder. These variants may affect the protein structure and function of CRMP1, leading to alterations in cellular processes and neurite outgrowth.
Review
Nutrition & Dietetics
Emma Derbyshire, Michael Maes
Summary: Neurodevelopmental disorders are increasing in prevalence, possibly due to deficits in choline intake during critical periods of neurodevelopment. Choline is a crucial micronutrient for optimal brain functioning and neurodevelopment. Research has shown low choline intakes and altered choline status in various population subgroups, including pregnant women, children with autism spectrum disorders, individuals with attention deficit hyperactivity disorder, and those with dyslexia. Optimal choline provision may offer neuronal protection in early life and mitigate cognitive effects associated with neurodevelopmental conditions.
Article
Medical Laboratory Technology
Shimeng Chen, Juan Xiong, Baiyu Chen, Ciliu Zhang, Xiaolu Deng, Fang He, Lifen Yang, Chen Chen, Jing Peng, Fei Yin
Summary: This study retrospectively analyzed the clinical characteristics and genetic spectrum of 79 ASD-NDDs patients, and found that 51.3% of the patients received a genetic diagnosis. Most patients had comorbid intellectual disability or global developmental delay, as well as epilepsy. The study also identified novel candidate genes related to ASD.
CLINICA CHIMICA ACTA
(2022)
Review
Nutrition & Dietetics
Shunichi Adachi, Michiko Torio, Sayaka Okuzono, Yoshitomo Motomura, Yuko Ichimiya, Yuri Sonoda, Jyunya Nagata, Misato Okamoto, Shoji Notomi, Masafumi Sanefuji, Yasunari Sakai, Shouichi Ohga
Summary: This case report presented a boy with ASD who developed vitamin A deficiency leading to irreversible visual impairment during follow-up. Vigilant monitoring of vitamin levels is crucial in preventing unfavorable outcomes and difficulty in food intake in children with ASD.
Article
Psychiatry
Xiujie Qi, Ting Yang, Jie Chen, Ying Dai, Li Chen, Lijie Wu, Yan Hao, Ling Li, Jie Zhang, Xiaoyan Ke, Mingji Yi, Qi Hong, Jinjin Chen, Shuanfeng Fang, Yichao Wang, Qi Wang, Chunhua Jin, Feiyong Jia, Tingyu Li
Summary: The study investigated the relationship between vitamin D levels and core symptoms and neurodevelopmental levels in children with ASD. The findings showed that children with ASD had lower vitamin D levels and that these levels were primarily associated with core symptoms. Further research is needed to determine the effectiveness of vitamin D supplementation in the treatment of ASD.
PSYCHIATRY RESEARCH
(2022)
Article
Medicine, General & Internal
Grace Mengqin Ge, Edmund C. L. Cheung, Kenneth K. C. Man, Patrick Ip, Wing Cheong Leung, Gloria H. Y. Li, Annie W. C. Kung, Ching-Lung Cheung, Ian C. K. Wong
Summary: The study found that maternal levothyroxine treatment during pregnancy is associated with an increased risk of preterm birth in offspring, but not significantly associated with low birth weight, ADHD, or ASD.
Article
Multidisciplinary Sciences
Shane Cleary, Grace Teskey, Craig Mathews, Russell J. Sachachar, Robert Nicolson, Rosanna Weksberg, Evdokia Anagnostou, Dawn M. E. Bowdish, Jane A. Foster
Summary: Multisite collection and preservation of PBMCs is crucial for large cohort immune phenotyping studies. This study describes a protocol implemented by the POND Network for PBMCs collection, processing, and cryopreservation. The results show that samples collected and processed at the same site have higher quality control pass rates than samples shipped to another site.
SCIENTIFIC REPORTS
(2023)
Article
Pediatrics
Jing Wen, Ting Yang, Jiang Zhu, Min Guo, Xi Lai, Ting Tang, Li Chen, Jie Chen, Ming Xue, Tingyu Li
Summary: Vitamin A deficiency and sleep disturbances are closely related to the core symptoms of ASD in children, with the interaction between sleep disturbances and VAD being associated with the severity of autism symptoms. Regular monitoring of sleep and VA levels may be beneficial for children with ASD.
Article
Biochemistry & Molecular Biology
Ignazio Stefano Piras, Stefano Gabriele, Laura Altieri, Federica Lombardi, Roberto Sacco, Carla Lintas, Barbara Manzi, Paolo Curatolo, Maria Nobile, Catia Rigoletto, Massimo Molteni, Antonio M. Persico
Summary: The research indicates that serum arylesterase activity is reduced in children and adolescents with ADHD, which may be related to increased oxidative stress rather than specific genetic factors.
Article
Clinical Neurology
Grazia Maria Giovanna Pastorino, Francesca Felicia Operto, Chiara Padovano, Valentina Vivenzio, Chiara Scuoppo, Nazareno Pastorino, Michele Roccella, Luigi Vetri, Marco Carotenuto, Giangennaro Coppola
Summary: Children and adolescents with epilepsy, ASD, or SLD show significant deficits in emotion recognition and Theory of Mind compared to typical development controls. The ASD group had the lowest performance, with impairment also present in the SLD and epilepsy groups. The study highlights the importance of addressing social cognition difficulties in these clinical populations.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Trine Tangeraas, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzabal, Julia Neugebauer, Natalie Weinhold, Francois Boemer, Francois G. Debray, Burcu Ozturk-Hism, Gumus Evren, Eminoglu F. Tuba, Oncul Ummuhan, Emma Footitt, James Davison, Caroline Martinez, Clarissa Bueno, Irene Machado, Pilar Rodriguez-Pombo, Nouriya Al-Sannaa, Mariela de los Santos, Jordi Muchart Lopez, Hatice Ozturkmen-Akay, Meryem Karaca, Mustafa Tekin, Sonia Pajares, Aida Ormazabal, Stephanie D. Stoway, Rafael Artuch, Marjorie Dixon, Lars Morkrid, Angeles Garcia-Cazorla
Summary: Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. This study reports the largest cohort of patients studied, expanding the phenotypic and genotypic spectrum, and provides newborn screening findings and mid-term clinical outcome.
Review
Environmental Sciences
Frederic Dutheil, Aurelie Comptour, Roxane Morlon, Martial Mermillod, Bruno Pereira, Julien S. Baker, Morteza Charkhabi, Maelys Clinchamps, Nicolas Bourdel
Summary: Exposure to air pollutants during pregnancy is associated with an increased risk of autism spectrum disorder in newborns, with PM2.5 showing the strongest impact. The most at-risk periods seem to be during pregnancy and the postnatal period.
ENVIRONMENTAL POLLUTION
(2021)
Article
Biochemistry & Molecular Biology
Guodong Chen, Lin Han, Senwei Tan, Xiangbin Jia, Huidan Wu, Yingting Quan, Qiumeng Zhang, Bin Yu, Zhengmao Hu, Kun Xia, Hui Guo
Summary: This study investigates the role of the KMT5B gene in neurodevelopmental disorders, including autism spectrum disorder (ASD), and reveals its essential functions in neuronal development, prenatal neurogenesis, and neuronal migration.
JOURNAL OF GENETICS AND GENOMICS
(2022)
Article
Virology
Cihan Papan, Alberto Argentiero, Ortwin Adams, Marian Porwoll, Ummaya Hakim, Edoardo Farinelli, Ilaria Testa, Maria B. Pasticci, Daniele Mezzetti, Katia Perruccio, Arne Simon, Johannes G. Liese, Markus Knuf, Michal Stein, Renata Yacobov, Ellen Bamberger, Sven Schneider, Susanna Esposito, Tobias Tenenbaum
Summary: This study found that viral load is associated with biomarkers and may serve as a complementary tool for assessing disease severity.
JOURNAL OF MEDICAL VIROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Serafina Perrone, Sara Manti, Luca Buttarelli, Chiara Petrolini, Giovanni Boscarino, Laura Filonzi, Eloisa Gitto, Susanna Maria Roberta Esposito, Francesco Nonnis Marzano
Summary: Bronchopulmonary dysplasia (BPD) is still a significant burden in neonatal care, and its definition is currently based on treatment rather than diagnostic criteria. BPD is associated with various prenatal and postnatal risk factors, causing distorted lung development and function. Inflammation and oxidative stress play key roles in BPD development, with vascular endothelial growth factor-A (VEGFA) being an important candidate. This educational review discusses the inflammatory pathways in BPD and highlights the role of VEGFA, providing an overview of current evidence.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Javier Diez-Domingo, Xavier Saez-Llorens, Miguel A. Rodriguez-Weber, Cristina Epalza, Archana Chatterjee, Cheng-Hsun Chiu, Chien-Yu Lin, Andrea A. Berry, Federico Martinon-Torres, Fernando Baquero-Artigao, Joanne M. Langley, Jose T. Ramos Amador, Joseph B. Domachowske, Li-Min Huang, Nan-Chang Chiu, Susanna Esposito, Philippe Moris, Thi Lien-Anh Nguyen, Vanja Nikic, Wayne Woo, Yingjun Zhou, Ilse Dieussaert, Amanda Leach, Antonio Gonzalez Lopez, Nicolas Vanhoutte
Summary: This study tested a new candidate RSV vaccine in toddlers who had a previous RSV infection. The vaccine was effective in preventing RSV-related illnesses and triggered an antibody response that could neutralize the virus. No vaccine-related serious adverse events or RSV-related hospitalizations were reported during the study.
JOURNAL OF INFECTIOUS DISEASES
(2023)
Review
Nutrition & Dietetics
Maria Elena Capra, Brigida Stanyevic, Antonella Giudice, Delia Monopoli, Nicola Mattia Decarolis, Susanna Esposito, Giacomo Biasucci
Summary: The COVID-19 pandemic has had a significant impact on the nutrition and metabolic diseases in children and adolescents, leading to an increase in overweight, obesity, and type 2 diabetes. The accessibility to healthcare services has been limited, resulting in delayed diagnosis and more severe presentation of type 1 diabetes. Further studies are required to investigate these relationships and develop strategies to mitigate the nutritional and metabolic impact in the developmental ages.
Review
Nutrition & Dietetics
Sabrina Cenni, Veronica Sesenna, Giulia Boiardi, Marianna Casertano, Giovanni Di Nardo, Susanna Esposito, Caterina Strisciuglio
Summary: The Mediterranean diet, rich in antioxidants and anti-inflammatory nutrients, has been recognized as one of the healthiest dietary patterns worldwide. Numerous studies have shown a strong correlation between the Mediterranean diet and chronic gastrointestinal diseases. This narrative review aims to analyze the effectiveness of the Mediterranean diet in preventing and managing these disorders, providing a useful overview.
Review
Pharmacology & Pharmacy
Gianluca Bossu, Giovanni Autore, Luca Bernardi, Danilo Buonsenso, Giovanni Battista Migliori, Susanna Esposito
Summary: According to the latest report from WHO, around 10.0 million people were affected by tuberculosis (TB) in 2020, with 12% being children under 15 years old. Limited knowledge and lack of registered drugs suitable for pediatric use pose challenges in treating multi-drug resistant TB (MDR-TB) in children. This review focuses on therapeutic options and prophylactic management of MDR-TB in children.
EXPERT REVIEW OF CLINICAL PHARMACOLOGY
(2023)
Review
Immunology
Danilo Buonsenso, Francesca Cusenza, Lucrezia Passadore, Francesca Bonanno, Claudia De Guido, Susanna Esposito
Summary: This study reviewed the duration of immune memory and risk of reinfection in children previously infected with SARS-CoV-2 or vaccinated. The evidence suggests that children infected with SARS-CoV-2 develop long-lasting immunity but have reduced cross-reactivity against the Omicron variant. Vaccination, on the other hand, provides better cross-neutralization against both pre-Omicron and Omicron variants. Based on these findings, it is recommended to offer booster vaccinations to children infected before Omicron and to more vulnerable children infected with Omicron.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Endocrinology & Metabolism
Giuseppe Cannalire, Simone Pilloni, Susanna Esposito, Giacomo Biasucci, Anna Di Franco, Maria Elisabeth Street
Summary: Serum alkaline phosphatase (ALP) and its isoenzymes play a crucial role in reflecting bone metabolism. ALP increases mineralization and reduces the concentration of an inhibitor of mineral formation. Different isoenzymes of ALP are expressed in different tissues and the bone isoenzyme (B-ALP) is involved in bone turnover. ALP measurements are important in the diagnosis, differentiation, and follow-up of rickets.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Microbiology
Giulia Dal Canto, Tawaddud Hassan Eisa Artaiga, Abdulrahman Ibrahiem Mohamed, Hayat Amin Makki Hassan, Doaa Mahmoud Adam, Moram Awadalla Ibrahiem Ahmed, Jihad Motwali, Manuela Valenti, Susanna Esposito
Summary: Diarrheal disease is a leading cause of death in children under five in developing countries, causing approximately 500,000 deaths annually. Due to the lack of diagnostic tests, empirical therapy is often used to treat diarrheal disease. This case study highlights the life-threatening complications of amoebiasis in children with severe acute malnutrition, emphasizing the need for a rapid and inexpensive diagnostic test and further research on antimicrobial resistance patterns.
Review
Microbiology
Ilaria Testa, Oliviero Crescenzi, Susanna Esposito
Summary: Cystic fibrosis (CF) is a common autosomal recessive disease in Caucasians, and the features of gut microbiota in CF patients have been found to be altered, with reduced richness and diversity. The imbalanced gut microbial population, with a higher population of pro-inflammatory bacteria and scarcer immunomodulatory genera, may contribute to the development of systemic inflammation and affect clinical outcomes. Manipulation of gut microbiota could potentially be considered as an intervention to regulate the severity and progression of CF.
Review
Pharmacology & Pharmacy
Nicola Principi, Giovanni Autore, Serafina Perrone, Susanna Esposito
Summary: RSV is a common respiratory virus that has a significant impact on patients, healthcare systems, and society worldwide. This paper discusses the characteristics of RSV and the current development of new pharmacological measures against this virus.
EXPERT OPINION ON PHARMACOTHERAPY
(2023)
Article
Infectious Diseases
Danilo Buonsenso, Giovanni Autore, Francesca Cusenza, Lucrezia Passadore, Francesca Bonanno, Susanna Esposito
Summary: The spread of drug-resistant tuberculosis (TB) has led to the development of new drugs and the reappraisal of old drugs. Ensuring access to child-friendly medicines for drug-resistant TB is crucial for reducing the global burden of TB. This perspective highlights the need for child-friendly formulations of second-line drugs to improve adherence to treatment regimens and prevent the development of additional drug resistance.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2023)
Review
Medicine, General & Internal
Letizia Paglialonga, Camilla Aurelio, Nicola Principi, Susanna Esposito
Summary: This article summarizes the available evidence on the return to play in children after SARS-CoV-2 infection, suggesting a clinical practice algorithm and highlighting priorities for future studies. The severity of COVID-19 and the presence of underlying diseases are criteria for identifying subjects requiring laboratory and radiological tests before returning to physical activity.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Nutrition & Dietetics
Elena Mariotti Zani, Roberto Grandinetti, Daniela Cunico, Lisa Torelli, Valentina Fainardi, Giovanna Pisi, Susanna Esposito
Summary: Patients with cystic fibrosis (CF) are prone to malnutrition and growth failure due to malabsorption caused by chloride transport derangement. Optimal nutritional care and support are crucial for improving clinical outcomes and life expectancy. This report analyzes the nutrition support in CF patients of different ages, focusing on the relationship with growth, nutritional status, disease outcomes, and the use of CFTR modulators. Early nutrition support in CF should aim at achieving optimal nutritional status to support growth and development in children and maintain it in adulthood. This involves a high calorie, high-fat diet, pancreatic enzyme replacement therapy, and adequate supplementation of fat-soluble vitamins. Supplemental enteral feeding may be needed when oral intake is insufficient. CFTR modulators have positive effects on nutritional status, including weight gain, BMI improvement, pulmonary function, and reduction of exacerbations. Challenges remain in developing new drugs to transform CF into a treatable chronic disease with specialized multidisciplinary care.
Review
Medicine, General & Internal
Nicole Mussi, Roberta Forestiero, Giulia Zambelli, Letizia Rossi, Maria Rosaria Caramia, Valentina Fainardi, Susanna Esposito
Summary: Obstructive sleep apnea syndrome (OSA) is the main manifestation of sleep-disordered breathing in children. Adenoid and/or tonsil hypertrophy are the most common causes of upper airway lumen reduction in children aged 2 years or older. Both surgical and non-surgical options are effective treatments for OSA in children.
JOURNAL OF CLINICAL MEDICINE
(2023)