Review
Behavioral Sciences
Simona Karamazovova, Veronika Matuskova, Zahinoor Ismail, Martin Vyhnalek
Summary: In addition to motor coordination, the cerebellum also plays an important role in cognitive and affective processes. Spinocerebellar ataxias (SCA) and Friedreich ataxia (FRDA) are rare neurodegenerative diseases of the cerebellum that not only affect motor functions but also have cognitive and neuropsychiatric symptoms. This review discusses the prevalence, clinical features, and treatment approaches of neuropsychiatric impairments such as depression, anxiety, apathy, agitation, impulse dyscontrol, and psychosis in SCA and FRDA patients. Further research is needed to improve the detection and treatment options for these co-morbidities in ataxia patients due to their significant impact on quality of life.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2023)
Article
Oncology
Fangyuan Zheng, Xuelin Dou, Liqiang Zhang, Jie Jin, Yanli Zhang, Bingcheng Liu, Li Meng, Xiaofan Zhu, Zesheng Lu, Yueping Jia, Huilan Liu, Hai Lin, Li Zhou, Xielan Zhao, Wei Yang, Hui Sun, Sixuan Qian, Hongxia Ma, Runhui Wu, Leping Zhang, Qian Jiang
Summary: The study found that TKI-related symptoms, mother's low education level, and age are significantly associated with HRQoL in children with CML. Children and their parents have different priorities in terms of HRQoL.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2022)
Article
Nutrition & Dietetics
Charlotte Juton, Paula Berruezo, Luis Rajmil, Carles Lerin, Montserrat Fito, Clara Homs, Genis Segun, Santiago F. Gomez, Helmut Schroder
Summary: The study found a positive association between adherence to the Mediterranean diet and HRQoL in Spanish children, while consumption of unhealthy foods like fast food was negatively correlated with HRQoL.
Article
Clinical Neurology
Gabriella Paparella, Cristina Straga, Marinela Vavla, Nicola Pesenti, Vasco Merotto, Gian A. Martorel, Sara Zalunardo, Maria Armellin, Jimmy Comiotto, Andrea Martinuzzi
Summary: The study demonstrates that inpatient rehabilitation significantly improves motor performance and ataxia symptoms in patients with FRDA, showing significant functional improvement in all outcome measures used. The findings suggest that IR programs in FRDA can provide meaningful clinical improvement in terms of outcome measures, which could be beneficial for approaching progressive neurological disorders.
FRONTIERS IN NEUROLOGY
(2023)
Article
Public, Environmental & Occupational Health
Abdulaziz Abdullah Alsaif, Thamer Adel Alkhadra, AlBandary Hassan AlJameel
Summary: This study assessed the oral health and its impact on oral health-related quality of life (OHRQoL) among foundling, delinquent, and mainstream children in Riyadh, Saudi Arabia. The results showed that the delinquent group had poorer oral health status and higher OHRQoL scores compared to the mainstream group.
FRONTIERS IN PUBLIC HEALTH
(2022)
Review
Neurosciences
Alessandra Rufini, Florence Malisan, Ivano Condo, Roberto Testi
Summary: Friedreich ataxia is a rare neurodegenerative disorder caused by insufficient levels of the essential mitochondrial protein frataxin. It leads to reduced activity of mitochondrial enzymes, impaired mitochondrial metabolism, reduced ATP production and inefficient anti-oxidant response, resulting in the progressive loss of movement coordination and daily activity performance. Drug repositioning is a viable alternative for identifying a therapy for Friedreich ataxia.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Urology & Nephrology
Chandana Guha, Anita van Zwieten, Rabia Khalid, Siah Kim, Amanda Walker, Anna Francis, Madeleine Didsbury, Armando Teixeira-Pinto, Belinda Barton, Chanel Prestidge, Emily Lancsar, Fiona Mackie, Joseph Kwon, Kirsten Howard, Kylie-Ann Mallitt, Martin Howell, Allison Jaure, Alison Hayes, Rakhee Raghunandan, Stavros Petrou, Suncica Lah, Steven McTaggart, Jonathan C. Craig, Germaine Wong
Summary: This multi-center longitudinal cohort study aimed to assess the trajectories of health-related quality of life (HRQoL) in children with chronic kidney disease (CKD) over time. The results showed that the HRQoL scores differed between children with different CKD stages, and the transition from dialysis to transplantation was significantly associated with the improvement in HRQoL. Children with CKD stage 1-5 and transplant recipients at baseline had stable HRQoL over time.
KIDNEY INTERNATIONAL
(2023)
Review
Endocrinology & Metabolism
Kaja Kristensen, Julia Quitmann, Stefanie Witt
Summary: This scoping review looked at Health-related Quality of Life in children and adolescents with congenital hyperinsulinism, revealing heterogeneous study designs and inconsistent results. It is recommended to use generic and condition-specific instruments in larger samples for longitudinal observation to gain a more comprehensive understanding of the impact of the disease on patients' quality of life.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Pediatrics
Irina L. Nikitina, Igor A. Kelmanson
Summary: In the assessment of HRQoL in 4-to-6-year-old children with T1DM, significant differences were found between children's self-reports and maternal proxy-reports. Mothers tended to underestimate general and disease-related components of HRQoL but were likely to overestimate the psychological wellbeing of their ill young children with T1DM. Factors such as maternal education, marital status, insulin regimen, and achievement of glycemic control were found to modify estimations of HRQoL and child-maternal discrepancies.
EUROPEAN JOURNAL OF PEDIATRICS
(2022)
Article
Pediatrics
Frederique C. M. Bouwman, Chris Verhaak, Ivo de Blaauw, Leo J. Schultze Kool, D. Maroeska W. M. te Loo, Iris A. L. M. van Rooij, Carine J. M. Van der Vleuten, Sanne M. B. I. Botden, Bas H. Verhoeven
Summary: This study evaluated the HRQOL in children with CVM and found that 25% of patients had an impaired HRQOL. Lower extremity CVM and invasive management were associated with an impaired HRQOL.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Neurosciences
Poornima Jayadev Menon, Tan Xin Yi, Sharon Moran, Richard A. Walsh, Sinead M. Murphy, Petya Bogdanova-Mihaylova
Summary: This study aimed to assess the impact of inherited cerebellar ataxias on patients' quality of life and work abilities. The findings showed that individuals with inherited ataxia experienced significant impairments in activity and required professional or informal care. Their health-related quality of life was significantly worse than the normative values of the Irish population.
Article
Cardiac & Cardiovascular Systems
Giulia Amodeo, Benedetta Ragni, Giulio Calcagni, Simone Piga, Salvatore Giannico, Marie Laure Yammine, Fabrizio Drago, Marta Luisa Ciofi Degli Atti, Angela Rossi, Simona De Stasio, Teresa Grimaldi Capitello
Summary: This study investigated the generic and condition-specific quality of life (QoL) of Italian children and adolescents with congenital heart disease (CHD) and their parents. The results showed that patients and parents reported a good level of QoL. Children aged 5-7 years old reported lower QoL levels. The agreement and disagreement between patients and parents varied depending on the patients' age.
BMC CARDIOVASCULAR DISORDERS
(2022)
Article
Medicine, General & Internal
Sophie Lembacher, Viktoria Hofer, Katrin Bekes
Summary: Dental pain in children significantly impacts the oral health-related quality of life, nearly twice as much as children without dental pain. This study suggests that dental pain in children may lead to a reduction in quality of life.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Dentistry, Oral Surgery & Medicine
Munevver Kilic, Sevcihan Gunen Yilmaz, Zehra Merve Kockopru
Summary: This study aimed to evaluate the oral health-related quality of life in children with acute lymphocytic leukemia (ALL) and acute myelocytic leukemia (AML). The results showed that chemotherapy and radiotherapy negatively affected oral tissues and organs, leading to significant functional problems in children with ALL/AML.
Article
Nutrition & Dietetics
Marco Crocco, Angela Calvi, Paolo Gandullia, Federica Malerba, Anthea Mariani, Sonia Di Profio, Barbara Tappino, Stefano Bonassi
Summary: This study aimed to assess the Health-Related Quality of Life (HRQoL) of Italian children and their parents with coeliac disease using the Coeliac Disease Dutch Questionnaire (CDDUX). The Italian version of the CDDUX questionnaire was found to be a valid and reliable tool for evaluating HRQoL in children and adolescents with CD, showing significant differences in HRQoL among populations of different nationalities. The main clinical variable affecting HRQoL in both children and parents was found to be lower age.
Article
Clinical Neurology
Ani Gok, Seha Kamil Saygili, Sebuh Kurugoglu, Sema Saltik, Nur Canpolat
Summary: This study examines the occurrence of nephrolithiasis in children with type 1 SMA and identifies hypercalciuria and high urine specific gravity as common risk factors. The study suggests that children with SMA type 1 may have an increased risk of nephrolithiasis compared to the general population.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Glenn S. Rivera, Jesse A. Stokum, Janet Dean, Cristina L. Sadowsky, Allan J. Belzberg, Matthew J. Elrick
Summary: This study evaluated the surgical efficacy of nerve transfer surgery in patients with acute flaccid myelitis (AFM) and found that preoperative clinical and neurophysiological data play a valuable role in preoperative planning and patient selection. The postoperative outcomes demonstrated that nerve transfer surgery is an effective strategy to restore strength.
PEDIATRIC NEUROLOGY
(2024)
Review
Clinical Neurology
Tristan T. Sands, Jennifer N. Gelinas
Summary: This review explores the concept of epileptic encephalopathy (EE) in pediatric epilepsy, discussing the potential impact of epileptic activity on normal brain development and mechanisms underlying cognitive and behavioral impairments. The findings highlight the threat of epileptic activity to normal brain physiology and development.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Grace Gombolay, Melissa A. Walker
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Salman Rashid, Monisha Goyal, Kathryn Lalor, Khaled Al-Robaidi, Vivek Shukla, Fazlur Rahman, Manimaran Ramani
Summary: This study investigated the seizure risk in asymptomatic preterm infants with high-grade intraventricular hemorrhage who underwent long-term video electroencephalographic monitoring. The findings showed that approximately 16% of these infants had seizures, and those with seizures were younger and more likely to be remonitored.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Bernadeta Zabielska, Natalia Rzewuska, Sergiusz Jozwiak
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Kelly C. Burk, Maki Kaneko, Catherine Quindipan, My H. Vu, Maritza Feliz Cepin, Jonathan D. Santoro, Michele Van Hirtum-Das, Deborah Holder, Gordana Raca
Summary: This study compared the diagnostic yields of chromosomal microarray (CMA) and epilepsy-genes sequencing (EGS) for genetic epilepsy etiologies. It found that EGS had a significantly higher diagnostic yield than CMA, especially for patients with infantile seizure onset and additional neurological findings.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Ursula Thome, Larissa A. Batista, Renata P. Rocha, Vera C. Terra, Ana Paula A. Hamad, Americo C. Sakamoto, Antonio C. Santos, Marcelo Santos, Helio R. Machado
Summary: Rasmussen encephalitis (RE) is a characterized by pharmacoresistant epilepsy and progressive neurological deficits. Surgical disconnection of the affected hemisphere is considered the treatment of choice, although the precise etiology is still unknown. This study reports the clinical, electrographic, and neuroimaging features of children and adolescents who underwent hemispheric surgery (HS) for the treatment of RE.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Michal Tzadok, Rotem Gur-Pollack, Hadar Florh, Yael Michaeli, Tal Gilboa, Mirit Lezinger, Eli Heyman, Veronika Chernuha, Irina Gudis, Andreea Nissenkorn, Tally Lerman-Sagie, Bruria Ben Zeev, Shimrit Uliel-Sibony
Summary: Purified CBD is well-tolerated and effective in reducing seizure frequency in children and young adults with drug-resistant epilepsy.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Zimeng Ye, Sufang Lin, Xia Zhao, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Jing Duan, Yi Yao, Lin Li, Li Chen, Dezhi Cao, Zhanqi Hu, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Nicolas J. Abreu, Madeline Chiujdea, Shanshan Liu, Bo Zhang, Sarah J. Spence
Summary: This study found a low completion rate of chromosomal microarray (CMA) testing for patients with autism spectrum disorder (ASD). Provider recommendation and more follow-up visits were associated with CMA completion. Age, intellectual disability or global developmental delay, first-degree relative with ASD, and public insurance were all related to CMA completion. Parental concern and cost/insurance coverage were the most frequently documented barriers.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Wafa Bouchaala, Sirine Laroussi, Yosra Mzid, Imen Maaloul, Olfa Jallouli, Salma Zouari, Sihem Ben Nsir, Zeineb Mnif, Fatma Kammoun, Chahnez Triki
Summary: Moyamoya angiopathy is a rare but serious cerebrovascular disease in children, which may result in arterial ischemic stroke. The clinical and radiological presentations can vary and are often overlooked. Early diagnosis and treatment are crucial.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Eline M. C. Hamilton, Pinar Topaloglu, Jigyasha Sinha, Francesco Nicita, Genevieve Bernard, S. Ali Fatemi, Marjo S. van der Knaap
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Muhamad Azamin Anuar, Muhammad'Adil Zainal Abidin, Soo Hong Tan, Cai Fong Yeap, Nor Azni Yahaya
Summary: This study conducted in Malaysia found that most infants with epilepsy can achieve seizure remission. However, poor seizure control and developmental delay are associated with abnormal EEG background and neuroimaging abnormalities.
PEDIATRIC NEUROLOGY
(2024)
