Article
Multidisciplinary Sciences
Josephine Poole, Sara Zagaglia, Rita Demurtas, Fiona Farrell, Matthew C. Walker, Sanjay M. Sisodiya, Simona Balestrini, Umesh Vivekananda
Summary: This study investigated the clinical and EEG spectral features of alternating hemiplegia of childhood (AHC) and found hemispheric differences in the spectral power preceding hemiplegic episodes in adults with AHC. The study also revealed disrupted sleep in AHC and identified reduced beta power and increased delta power during wakefulness in AHC compared to controls.
Review
Medicine, General & Internal
Piero Pavone, Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, Enrico Parano
Summary: Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by paroxysmal manifestations of tonic and dystonic attacks, nystagmus, and other symptoms. It is often accompanied by epileptic seizures and developmental delay. Flunarizine is commonly used for treatment. Mutations in ATP1A2, particularly in ATP1A3, are responsible for AHC. ATP1A3-related disorders and ATP1A3 syndrome are recently established genetic clinical entities.
Article
Genetics & Heredity
Xin Zhang, Shiyan Qiu, Li Yang, Yufen Li, Liyun Xu, Na Xu, Changrui Mi, Menglin Li
Summary: This study reports a novel heterozygous ATP1A2 variant in a girl with alternating hemiplegia, febrile seizures, developmental delay, and MELAS-like syndrome. The variant is likely pathogenic and rare in the population. Further studies are needed to understand the relationship between ATP1A2 gene mutations and clinical phenotypes.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Pediatrics
Piero Pavone, Xena Giada Pappalardo, Naira Mustafa, Sung Yoon Cho, Dong Kyu Jin, Gemma Incorpora, Raffaele Falsaperla, Simona Domenica Marino, Giovanni Corsello, Enrico Parano, Martino Ruggieri
Summary: AHC is a rare and complex disorder characterized by mutations in genes such as ATP1A3, leading to various neurological comorbidities. Clinical and genetic features of AHC patients from different families show genetic heterogeneity, suggesting unexpected causes of this disorder.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
Article
Clinical Neurology
Hui Chen, Xiaolan Sun, Ruiyan Wang, Zhaoshi Yi, Zhixin Huang, Jihua Xie, Xiongying Yu, Yong Chen, Jianmin Zhong
Summary: This case report presents a Chinese boy with atypical hemiplegic migraine, initially presenting without headache and being misdiagnosed multiple times. Through whole-exome next-generation sequencing, a pathogenic mutation in the ATP1A2 gene was identified, leading to a correct diagnosis of hemiplegic migraine at the age of 11. Gene detection is crucial for early diagnosis and treatment in similar clinical cases.
Article
Clinical Neurology
Ramona Cordani, Michela Stagnaro, Livia Pisciotta, Francesco Danilo Tiziano, Maria Grazia Calevo, Lino Nobili, Elisa De Grandis
Summary: In a cohort of Italian children with Alternating Hemiplegia of Childhood, 92.3% were found to have mutations in the ATP1A3 gene, with the p.Glu815Lys mutation associated with more severe symptoms. Patients with the p.Glu815Lys mutation exhibited earlier onset of paralysis and tonic attacks, as well as greater intellectual disability and language impairment. Interestingly, the medication flunarizine appeared to be more effective in patients with the p.Glu815Lys mutation compared to those with the p.Asp801Asn mutation.
FRONTIERS IN NEUROLOGY
(2021)
Article
Genetics & Heredity
Danping Huang, Min Liu, Hongying Wang, Bingbing Zhang, Dongjing Zhao, Weihao Ling, Manli Wang, Jun Feng, Yiping Shen, Xuqin Chen
Summary: Two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A) presented episodes of alternating hemiplegia, seizures and mild developmental delay, with abnormal signals in brain magnetic resonance imaging. The new genetic evidence strengthened the gene-disease relationship and reclassified the two variants as likely pathogenic based on ClinGen Standard Operation Procedure.
BMC MEDICAL GENOMICS
(2021)
Article
Psychiatry
Monika Chhajed, Pradeep Kumar Gunasekaran, Lokesh Saini, Indar Kumar Sharawat
Summary: A 9-year-old boy presented with a 6-month history of abnormal behavior, including unprovoked aggression and occasional self-inflicting behavior. He also exhibited decreased appetite, anhedonia, apathy, reduced sleep, low energy, and poor interaction with parents and peers. Assessment revealed mild cognitive impairment, below-average intelligence, moderate depression, mild psychotic symptoms, macrocytic anemia, and low vitamin B12 levels. Next-generation sequencing identified a novel mutation in the MMACHC gene, suggesting combined methylmalonic aciduria and homocystinuria (cblC type). Timely initiation of therapy can improve long-term neurological outcomes.
ASIAN JOURNAL OF PSYCHIATRY
(2022)
Article
Biotechnology & Applied Microbiology
Arsen S. Hunanyan, Boris Kantor, Ram S. Puranam, Courtney Elliott, Angela McCall, Justin Dhindsa, Promila Pagadala, Keri Wallace, Jordan Poe, Talha Gunduz, Aravind Asokan, Dwight D. Koeberl, Mai K. ElMallah, Mohamad A. Mikati
Summary: This study demonstrates that providing an extra copy of the normal gene can alleviate symptoms of Alternating Hemiplegia of Childhood in a mouse model, leading to improved performance and prolonged survival.
HUMAN GENE THERAPY
(2021)
Article
Neurosciences
Jianzhi Zeng, Xuelin Li, Renzimo Zhang, Mingyue Lv, Yipan Wang, Ke Tan, Xiju Xia, Jinxia Wan, Miao Jing, Xiuning Zhang, Yu Li, Yang Yang, Liang Wang, Jun Chu, Yan Li, Yulong Li
Summary: This study found that dopamine bi-directionally regulates the temporal window of olfactory learning in Drosophila and affects the synaptic plasticity of Kenyon cells in the mushroom body. The release of acetylcholine by KCs activates the serotonergic DPM neuron, which provides inhibitory feedback to KCs. The study also discovered that 5-HT signals have spatial heterogeneity in the mushroom body and can proportionally gate the coincidence time windows of different compartments.
Article
Clinical Neurology
Keri Wallace, Elizabeth Greene, Mary Moya-Mendez, Michael Freemark, Lyndsey Prange, Mohamad A. Mikati
Summary: Around 12% of AHC patients exhibit HP dysfunction, with manifestations such as central precocious puberty, short stature due to growth hormone deficiency, and recurrent episodes of central fever. These patients are evaluated and co-managed by pediatric neurology and endocrinology or rheumatology.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Clinical Neurology
Lauren E. Parker, Keri Wallace, Arthur Thevathasan, Emily Funk, Milton Pratt, Julie Thamby, Linh Tran, Lyndsey Prange, Julie Uchitel, April Boggs, Melissa Minton, Joan Jasien, Kanae Jennifer Nagao, Amanda Richards, Belinda Cruse, Guy De-Lisle Dear, Andrew P. Landstrom, Mohamad A. Mikati
Summary: The study analyzed the complications during sedation or anesthesia in 34 AHC patients. The results showed that AHC patients, particularly those with ATP1A3 variants and prior short QTc, are prone to complications consistent with AHC pathophysiology during sedation or anesthesia. Increased awareness is needed during these procedures.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Wen Wei, Xiu-fen Zheng, Dan-dan Ruan, Yu-mian Gan, Yan-ping Zhang, Ying Chen, Xin-fu Lin, Fa-qiang Tang, Jie-wei Luo, Yun-fei Li
Summary: The study found that the mother of a patient with AHC was later diagnosed with RDP. The biochemical and immune indices of the patient and the mother were normal, but the mother's EEG and MRI showed abnormalities. Genetic sequencing results showed that the patient and the mother carried the same mutation, while other family members did not.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Marco Perulli, Josephine Poole, Giulia Di Lazzaro, Sasha D'Ambrosio, Katri Silvennoinen, Sara Zagaglia, Diego Jimenez-Jimenez, Domenica Battaglia, Sanjay M. Sisodiya, Simona Balestrini
Summary: This study followed up on 7 adults with alternating hemiplegia of childhood (AHC) and found heterogeneous neurological outcomes over a median of 16 years. Three patients experienced serious irreversible neurological deterioration after prolonged quadriplegic episodes and/or status epilepticus in their second or third decade. Further research with larger cohorts is needed to identify genotype-phenotype correlations and clinically useful outcome predictors.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2022)
Review
Clinical Neurology
Ramona Cordani, Livia Pisciotta, Maria Margherita Mancardi, Michela Stagnaro, Giulia Prato, Thea Giacomini, Giovanni Morana, Peter Walsh, Twinkle Ghia, Lino Nobili, Elisa De Grandis
Summary: Alternating Hemiplegia of Childhood (AHC) is a rare neurological disease associated with TBC1D24 gene variants, which can present as polymorphic seizures and movement disorders. Molecular analysis of the TBC1D24 gene may be considered in the diagnostic workup of AHC patients.
Article
Genetics & Heredity
Anum Shafique, Beenish Arif, Mary Lynn Chu, Ellen Moran, Tooba Hussain, Francisca Millan Zamora, Elizabeth Wohler, Nara Sobreira, Christine Klein, Katja Lohmann, Sadaf Naz
Summary: This study investigated patients with dystonic or involuntary movement disorders in two families. Genetic analyses revealed mutations in the MRM2 gene that were associated with the phenotypes.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Bjoern-Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Christine Klein, Thomas F. Muente, Ana Westenberger, Jean Q. Oropilla, Norbert Brueggemann
Summary: In this study, it was found that X-linked dystonia-parkinsonism has basal ganglia atrophy and iron accumulation before the clinical onset. These findings highlight the potential of early diagnosis and the importance of understanding the prodromal phase of the disease.
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Joanne Trinh, Andrew A. Hicks, Inke R. Koenig, Sylvie Delcambre, Theresa Lueth, Susen Schaake, Kobi Wasner, Jenny Ghelfi, Max Borsche, Carles Vilarino-Gueell, Faycel Hentati, Elisabeth L. Germer, Peter Bauer, Masashi Takanashi, Vladimir Kostic, Anthony E. Lang, Norbert Brueggemann, Peter P. Pramstaller, Irene Pichler, Alex Rajput, Nobutaka Hattori, Matthew J. Farrer, Katja Lohmann, Hansi Weissensteiner, Patrick May, Christine Klein, Anne Gruenewald
Summary: Trinh et al. found that PINK1/PRKN mutations increase the risk of mitochondrial DNA variant accumulation in a dose- and disease-dependent manner. Monoallelic mutation carriers can be distinguished by the level of heteroplasmic mtDNA variants. Biallelic mutations in PINK1/PRKN lead to recessive Parkinson's disease.
Article
Clinical Neurology
Serge Pinto, Adelheid Nebel, Jorn Rau, Robert Espesser, Pauline Maillochon, Oliver Niebuhr, Paul Krack, Tatiana Witjas, Alain Ghio, Marie-Charlotte Cuartero, Lars Timmermann, Alfons Schnitzler, Helke Hesekamp, Niklaus Meier, Julia Muellner, Thomas D. Haelbig, Bettina Moeller, Steffen Paschen, Laura Paschen, Jens Volkmann, Michael T. Barbe, Gereon R. Fink, Johannes Becker, Paul Reker, Andrea A. Kuehn, Gerd-Helge Schneider, Valerie Fraix, Eric Seigneuret, Andrea Kistner, Olivier Rascol, Christine Brefel-Courbon, Fabienne Ory-Magne, Christian J. Hartmann, Lars Wojtecki, Anne Fradet, David Maltete, Philippe Damier, Severine Le Dily, Friederike Sixel-Doering, Petra Benecke, Daniel Weiss, Tobias Waechter, Marcus O. Pinsker, Jean Regis, Stephane Thobois, Gustavo Polo, Jean-Luc Houeto, Andreas Hartmann, Karina Knudsen, Marie Vidailhet, Michael Schuepbach, Gunther Deuschl
Summary: This study compared speech intelligibility assessment and other outcomes between subthalamic nucleus deep brain stimulation (STN-DBS) and best medical treatment (BMT) in early-stage Parkinson's disease patients over a 2-year period. The results showed no significant differences in speech intelligibility and patient-reported outcomes between the STN-DBS and BMT groups, but there was a trend towards worsening in both groups.
MOVEMENT DISORDERS
(2023)
Letter
Clinical Neurology
Nikolai Gil D. Reyes, Daniel G. Di Luca, Vanda McNiven, Anthony E. Lang
Summary: GNB1 encephalopathy is a rare neuro-developmental syndrome caused by pathogenic variants in the GNB1 gene. It is characterized by global developmental delay and co-occurrence of movement disorders, with dystonia being the most common. Other rare phenomenologies include myoclonus, tics, chorea, ataxia, and oculomotor abnormalities. This case report presents a unique phenotype of GNB1 encephalopathy caused by a de novo mutation in exon 11, with symptoms of dystonia, myoclonus, and vertical supranuclear gaze palsy.
PARKINSONISM & RELATED DISORDERS
(2023)
Article
Biochemistry & Molecular Biology
Melissa Vos, Christine Klein, Andrew A. Hicks
Summary: Sphingolipids, a subset of bioactive lipids, play a crucial role in proper neuronal function and are involved in almost all biological processes. Recent studies have found alterations in sphingolipids in patients with Parkinson's disease (PD), suggesting an important interaction between sphingolipids and PD-related cellular processes. This article discusses the role of sphingolipids in mitochondrial dysfunction, autophagy defects, and abnormal endosomal activity in PD.
JOURNAL OF MOLECULAR BIOLOGY
(2023)
Letter
Clinical Neurology
Max Borsche, Neringa Pratuseviciute, Susen Schaake, Frauke Hinrichs, Gabriel Morel, Jan Uter, Katja Lohmann, Christine Klein, Dario R. Alessi, Johann Hagenah, Esther Sammler
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Roxanne Lofredi, Ute Scheller, Aurika Mindermann, Lucia K. Feldmann, Joachim K. Krauss, Assel Saryyeva, Gerd-Helge Schneider, Andrea A. Kuehn
Summary: This study observed that movement speed gradually increased after cessation of pallidal stimulation in dystonia patients. The association between movement slowness and beta oscillations indicates symptom-specific oscillatory patterns in the motor circuit, which has implications for improving deep brain stimulation therapy.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Donald C. Brien, Heidi C. Riek, Rachel Yep, Jeff Huang, Brian Coe, Corson Areshenkoff, David Grimes, Mandar Jog, Anthony Lang, Connie Marras, Mario Masellis, Paula McLaughlin, Alicia Peltsch, Angela Roberts, Brian Tan, Derek Beaton, Wendy Lou, Richard Swartz, Douglas P. Munoz
Summary: A simple and non-invasive test was developed using video-based eye tracking and machine learning, which showed high sensitivity in detecting the stages of Parkinson's Disease and cognitive impairment. The classifier reached a sensitivity of 83% and a specificity of 78%.
PARKINSONISM & RELATED DISORDERS
(2023)
Editorial Material
Clinical Neurology
Nikolai Gil D. Reyes, Anthony E. Lang
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Letter
Clinical Neurology
Seyedeh Narges Tabatabaee, Sajjad Effat Nejad, Ali Nikkhah, Narges Hashemi, Afagh Alavi, Anthony E. E. Lang, Mohammad Rohani, Maziar Emamikhah
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Martin Niethammer, Chris C. C. Tang, Roland Dominic G. Jamora, An Vo, Nha Nguyen, Yilong Ma, Shichun Peng, Jeff L. Waugh, Ana Westenberger, David Eidelberg
Summary: The objective of this study was to characterize a metabolic brain network associated with X-linked dystonia-parkinsonism (XDP). PET scans were conducted on Filipino men with XDP and healthy men without the condition. The results showed that XDP is associated with abnormal functional connectivity in the brain.
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Daniel G. Di Luca, Carolina Ramirez-Gomez, Jurgen Germann, Brendan Santyr, Alexandre Boutet, Luka Milosevic, Anthony E. Lang, Suneil K. Kalia, Andres M. Lozano, Alfonso Fasano
Summary: This study aimed to evaluate the safety and efficacy of deep brain stimulation on the globus pallidus pars interna and externa in MSA-P patients. The surgery did not result in major complications, but did not provide significant clinical benefit as measured by MDS-UPDRS III.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Johannes L. Busch, Jonathan Kaplan, Bahne H. Bahners, Jan Roediger, Katharina Faust, Gerd-Helge Schneider, Esther Florin, Alfons Schnitzler, Patricia Krause, Andrea A. Kuehn
Summary: Stimulation-induced beta power suppression is superior to directional beta power in selecting the most effective contact for programming deep brain stimulation systems in patients with Parkinson's disease.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Roxanne Lofredi, Ute Scheller, Aurika Mindermann, Lucia K. Feldmann, Joachim K. Krauss, Assel Saryyeva, Gerd-Helge Schneider, Andrea A. Kuehn
Summary: Pallidal deep brain stimulation (DBS) can alleviate symptoms in dystonia patients, but it may also cause movement slowness. This study found that after the cessation of pallidal stimulation, the movement speed of dystonia patients increased over time. The beta oscillations in the pallidum were found to be associated with the variance in movement speed.
MOVEMENT DISORDERS
(2023)
Article
Pediatrics
Tarun Aurora, Audrey Cole, Parul Rai, Paul Lavoie, Carrie Mcivor, Lisa M. Klesges, Guolian Kang, Janaka S. S. Liyanage, Heather M. Brandt, Jane S. Hankins
Summary: This study evaluated the effectiveness of a vaccine strategy bundle in increasing HPV vaccine initiation and completion rates in a specialty clinic setting. By implementing the bundle, which included staff education, provider incentives, offering vaccines in clinics, and verifying vaccine completion, the clinic successfully improved HPV vaccine initiation and completion rates among sickle cell disease patients.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Nienke M. Halbmeijer, Wes Onland, Jeroen Dudink, Filip Cools, Anne Debeer, Anton H. van Kaam, Manon J. N. L. Benders, Niek E. van der Aa
Summary: In ventilated infants born preterm, high dose systemic hydrocortisone initiated between 7 and 14 days after birth did not have a significant impact on brain development.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Katherine Melton, Jianfang Liu, Hossein Sadeghi, Maureen George, Arlene Smaldone
Summary: This study aims to identify predictors of change in lung function and body weight during health care transition in cystic fibrosis (CF) patients. The study findings highlight the importance of CF RISE program engagement and reducing gaps in care for improving the transition of adolescents and young adults with CF.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Laura A. Duckworth, Kimberly A. Sutton, Nurmohammad Shaikh, Jinli Wang, Carla Hall-Moore, Lori R. Holtz, Phillip I. Tarr, Ronald C. Rubenstein
Summary: The study tested the usefulness of various biomarkers as indicators of gut dysfunction in cystic fibrosis (CF) and investigated the repeatability of these measures in individuals over short periods and their correlation with clinical outcomes. The results showed that elevated levels of fLcn2 in individuals with CF may predict worsened pulmonary function.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Lindsey Haack, Nikkan Das, Arvind Hoskoppal, Mark Debrunner, Tarek Alsaied, Gaurav Arora
Summary: RAE on ECG has a low positive predictive value for RAE on echocardiogram in previously healthy young patients. The highest yield for RAE on echocardiogram was observed in patients who were <1 year of age, had RAE in the anterior precordial leads, or displayed right ventricular hypertrophy on ECG.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Michael A. Padula, Khatija Naing, Tara L. Wenger, Irfan Ahmad, Carl H. Coghill, K. Taylor Wild, S. Alex Rottgers, Cory M. Resnick, Jeffrey Goldstein, Zarmina Ehsan, Donna Watkins, Nicole Deptula, Kuan-Chi Lai, Janet Lioy, Semsa Gogcu, Christopher M. Cielo
Summary: This study describes the spectrum of disease and burden of care in infants with congenital micrognathia. The results show that these infants commonly require surgical intervention and tube feedings, and disparities based on race and among centers were identified.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Michael P. Fundora, Manvitha Kalicheti, Guantao Zhao, Kevin O. Maher, Nicoleta Serban
Summary: This study investigated the variation of outpatient opioid prescribing in postoperative pediatric cardiac patients across the US. The results showed that there were significant differences in opioid prescribing by race, ethnicity, sex, and region.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Jia Guo, Brooklyn J. Fraser, Leigh Blizzard, Michael D. Schmidt, Terence Dwyer, Alison J. Venn, Costan G. Magnussen
Summary: There is a correlation between childhood and adulthood cardiorespiratory fitness.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Nianzhou Xiao, Michelle Starr, Adrienne Stolfi, Gilad Hamdani, Shireen Hashmat, Stefan G. Kiessling, Christina Sethna, Mahmoud Kallash, Robyn Matloff, Robert Woroniecki, Keia Sanderson, Ikuyo Yamaguchi, Stephen D. Cha, Michael G. Semanik, Rahul Chanchlani, Joseph T. Flynn, Mark Mitsnefes
Summary: This multicenter study reports that most infants diagnosed with idiopathic hypertension in the NICU will discontinue antihypertensive treatment within 2 years of discharge. Antenatal steroid treatment is associated with a decreased likelihood of needing antihypertensive therapy for more than 1 year.
JOURNAL OF PEDIATRICS
(2024)
Editorial Material
Pediatrics
Kanwaljit Singh, John Concato, Jonathan M. Davis
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Yaxing Meng, Harri Niinikoski, Suvi P. Rovio, Brooklyn J. Fraser, Feitong Wu, Antti Jula, Tapani Ronnemaa, Jorma S. A. Viikari, Olli T. Raitakari, Katja Pahkala, Costan G. Magnussen
Summary: This 26-year study shows a correlation between early-life non-HDL-C levels and future levels. Early dietary counseling can reduce the risk of high pediatric non-HDL-C, emphasizing the importance of early interventions in preventing cardiovascular risks.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Kelsey A. B. Gastineau, Rebecca Bell, Allison Hanes, Sandra Mckay, Eric Sigel, Filoteia Popescu, Evan C. Sommer, Shari Barkin
Summary: This study aimed to assess the self-reported counseling outcomes for a firearm safe storage counseling training program provided by the American Academy of Pediatrics. The results demonstrated significant improvement in counseling self-efficacy and frequency one month after the training.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Kathryn E. K. Berlin, William Scott, Sara Dawson, David Brousseau, Joanne M. Lagatta
Summary: This prospective cohort study aimed to investigate the impact of bronchopulmonary dysplasia (BPD) on the health-related quality of life (HRQL) of infants from NICU hospitalization to one year post-discharge. The study found that lower HRQL during NICU stay was associated with earlier gestational age, postnatal corticosteroid usage, outborn status, and gastrostomy tube placement. Lower HRQL at 3 and 12 months post-discharge was associated with readmissions, home oxygen use, parent-reported difficulty breathing, lower developmental scores, and not playing with other children. Most parents reported similar or improved HRQL after discharge, but parents of infants with respiratory symptoms experienced less improvement. Efforts to improve parent HRQL should focus on respiratory symptoms and social isolation.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
Garett J. Griffith, Alan P. Wang, Robert I. Liem, Michael R. Carr, Tyler Corson, Kendra Ward
Summary: This study developed reference values for cardiorespiratory fitness in children aged 6-18 years without underlying heart disease, measured by peak oxygen uptake and treadmill time. Fitness levels increased with age in males but not females. Males generally exhibited higher fitness levels compared to females in the same age groups.
JOURNAL OF PEDIATRICS
(2024)
Article
Pediatrics
David S. Liu, Patricia Miller, Anna Rothenberg, Carley Vuillermin, Peter M. Waters, Andrea S. Bauer
Summary: This study aims to determine if children with elbow flexion contracture (EFC) caused by brachial plexus birth injury (BPBI) are more likely to develop shoulder contracture and undergo surgical treatment. A retrospective review was conducted on children under 2 years old with BPBI who presented to a single children's hospital. The results showed that patients with EFC had reduced shoulder range of motion and higher odds of shoulder contracture and surgical treatment. Prompt referral to a BPBI specialty clinic is recommended for evaluation and potential surgery.
JOURNAL OF PEDIATRICS
(2024)
