keyword
https://read.qxmd.com/read/38531362/monitoring-spinal-muscular-atrophy-with-three-dimensional-optoacoustic-imaging
#1
JOURNAL ARTICLE
Emmanuel Nedoschill, Alexandra L Wagner, Vera Danko, Adrian Buehler, Roman Raming, Jörg Jüngert, Markus F Neurath, Maximilian J Waldner, Ulrich Rother, Joachim Woelfle, Regina Trollmann, Ferdinand Knieling, Adrian P Regensburger
BACKGROUND: Spinal muscular atrophy is a progressive neuromuscular disorder and among the most frequent genetic causes of infant mortality. While recent advancements in gene therapy provide the potential to ameliorate the disease severity, there is currently no modality in clinical use to visualize dynamic pathophysiological changes in disease progression and regression after therapy. METHODS: In this prospective diagnostic clinical study, ten pediatric patients with spinal muscular atrophy and ten age- and sex-matched controls have been examined with three-dimensional optoacoustic imaging and clinical standard examinations to compare the spectral profile of muscle tissue and correlate it with motor function (ClinicalTrials...
March 18, 2024: Med
https://read.qxmd.com/read/38509470/differential-cognitive-and-behavioral-development-from-6-to-24%C3%A2-months-in-autism-and-fragile-x-syndrome
#2
JOURNAL ARTICLE
Lindsay J Mullin, Joshua Rutsohn, Julia L Gross, Kelly E Caravella, Rebecca L Grzadzinski, Leigh Anne Weisenfeld, Lisa Flake, Kelly N Botteron, Stephen R Dager, Annette M Estes, Juhi Pandey, Robert T Schultz, Tanya St John, Jason J Wolff, Mark D Shen, Joseph Piven, Heather C Hazlett, Jessica B Girault
BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants...
March 20, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38450080/motor-and-neurocognitive-profiles-of-children-with-symptomatic-spinal-muscular-atrophy-type-1-with-two-copies-of-smn2-before-and-after-treatment-a-longitudinal-observational-study
#3
JOURNAL ARTICLE
Ilaria Bitetti, Maria Rosaria Manna, Roberto Stella, Antonio Varone
INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by mutations in the survival motor neuron 1 ( SMN1 ) gene. In clinical studies, gene replacement therapy with onasemnogene abeparvovec (formerly AVXS-101, Zolgensma® , Novartis) was efficacious in improving motor functioning in children with SMA. However, its effects on cognitive and language skills are largely unknown. METHODS: This longitudinal observational study evaluated changes in motor and neurocognitive functioning over a 1-year period after administration of onasemnogene abeparvovec in 12 symptomatic SMA type 1 patients with two copies of SMN2 aged 1...
2024: Frontiers in Neurology
https://read.qxmd.com/read/38445427/cerebral-palsy-of-the-child-in-rehabilitation-environment-epidemiologic-and-clinical-profile-and-therapeutic-modalities
#4
JOURNAL ARTICLE
Rim Maaoui, Souad Karoui, Meriem Hfaidh, Najla Mouhli, Zied Ezzine, Imene Ksibi, Hajer Rahali, Hajer Barakizou, Khouloud Hamdi
INTRODUCTION: Cerebral palsy (CP) is a group of permanent disorders of the development of movement and posture causing activity limitation. AIM: To evaluate the epidemiological, clinical, and radiological profile of children with CP and to study the therapeutic modalities in daily clinical practice. METHOD: This was a retrospective, descriptive study, carried out in a physical medicine and rehabilitation department, including all the patients referred with the diagnosis of cerebral palsy between January 2000 and December 2016...
July 5, 2023: La Tunisie Médicale
https://read.qxmd.com/read/38391129/factor-analysis-of-neuropsychological-domains-in-a-preschool-clinic
#5
JOURNAL ARTICLE
Amy K Heffelfinger, Erin T Kaseda, Daniel D Holliday, Lauren E Miller, Jennifer I Koop
INTRODUCTION: The clinical practice of preschool neuropsychology assumes that our assessment tools are measuring underlying neuropsychological functions, and that these functions are negatively impacted by early life neurological injury, disease, and disorder. This study hypothesized that general intellectual capacity and specific cognitive skills, both "broad" neuropsychological domains and "specific" subdomains within those broader clusters, would be differentiable in a preschool-age clinical population...
February 23, 2024: Journal of Clinical and Experimental Neuropsychology
https://read.qxmd.com/read/38290182/sleep-and-the-social-profiles-of-individuals-with-rett-syndrome
#6
JOURNAL ARTICLE
Xinyan Zhang, Marcel Smits, Leopold Curfs, Karen Spruyt
BACKGROUND: This study investigates the distinctive social behaviors observed in individuals with Rett syndrome (RTT), characterized by the loss of spoken language, impaired eye gaze communication, gait abnormalities, and sleep issues. The research aims to identify social profiles in RTT and explore their correlation with sleep, sleep-disordered breathing (SDB), and daytime sleepiness. METHODS: Standard overnight sleep macrostructure and respiratory parameters were assessed...
March 2024: Pediatric Neurology
https://read.qxmd.com/read/38285058/neurodevelopmental-profile-of-infants-and-toddlers-awaiting-a-kidney-transplant
#7
JOURNAL ARTICLE
Danielle Glad, Christopher Anzalone, Finola Kane-Grade, Lidan Gu, Michael Evans, Sarah Kizilbash
BACKGROUND: Infants and toddlers with kidney failure are susceptible to neurodevelopmental delays due to medical comorbidities and rapid brain development in early childhood. However, research on the neuropsychological development of this patient population has been limited over the past 10 years. METHODS: We performed a retrospective study to evaluate the neurodevelopmental functioning of infants/toddlers with kidney failure who completed the Bayley Scales of Infant and Toddler Development (3rd and 4th Edition) as part of a pretransplant evaluation between 2010 and 2022 (n = 23; Mage  = 18 months, SD = 8...
January 29, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38250783/real-world-outcomes-in-patients-with-spinal-muscular-atrophy-treated-with-onasemnogene-abeparvovec-monotherapy-findings-from-the-restore-registry
#8
JOURNAL ARTICLE
Laurent Servais, John W Day, Darryl C De Vivo, Janbernd Kirschner, Eugenio Mercuri, Francesco Muntoni, Crystal M Proud, Perry B Shieh, Eduardo F Tizzano, Susana Quijano-Roy, Isabelle Desguerre, Kayoko Saito, Eric Faulkner, Kamal M Benguerba, Dheeraj Raju, Nicole LaMarca, Rui Sun, Frederick A Anderson, Richard S Finkel
BACKGROUND: Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important for assessing outcomes and providing information for a larger number and broader range of SMA patients than included in clinical trials. OBJECTIVE: We sought to describe patients with SMA treated with onasemnogene abeparvovec monotherapy in the real-world setting. METHODS: RESTORE is a prospective, multicenter, multinational, observational registry that captures data from a variety of sources...
January 18, 2024: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/38242022/developmental-skills-and-neurorehabilitation-for-children-with-batten-disease-a-retrospective-chart-review-of-a-comprehensive-batten-clinic
#9
JOURNAL ARTICLE
Rachel Bican, Virginia Goddard, Nicolas Abreu, Danielle Peifer, Andrea Basinger, Michelle Sveda, Kelly Tanner, Emily C de Los Reyes
BACKGROUND: Batten disease is a rare, progressive neurogenetic disorder composed of 13 genotypes that often presents in childhood. Children present with seizures, vision loss, and developmental regression. Neurorehabilitation services (i.e., physical therapy, occupational therapy, and speech-language therapy) can help improve the quality of life for children and their families. Owing to the rarity of Batten disease, there are no standardized clinical recommendations or outcome assessments...
March 2024: Pediatric Neurology
https://read.qxmd.com/read/38221861/differential-neuropsychological-profiles-in-children-and-adolescents-with-motor-disability-in-an-inclusive-educational-setting
#10
JOURNAL ARTICLE
M Isabel García-Castro, Julio Menor, Juan C Alvarez-Carriles
The aim of this study was to determine the potential cognitive impairment associated with motor disability in a group of children attending regular schools and to analyze whether there were different cognitive profiles according to the type of motor disability they presented. The study had 87 participants, 31 healthy and 56 with three types of motor disability: Neuromuscular Diseases (NMD Group), Cerebral Palsy-Hemiparesis (CP- HPx Group) and Cerebral Palsy-Diplegia (CP-DP). Ages ranged from 6 to 18 years and they had medium and medium-high socioeconomic and cultural levels...
January 15, 2024: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
https://read.qxmd.com/read/38190213/categorical-and-latent-profile-approaches-to-temperamental-infant-reactivity-and-early-trajectories-of-socioemotional-adjustment
#11
JOURNAL ARTICLE
Berenice Anaya, Laura Bierstedt, Nora Tucker, Kristin A Buss, Vanessa LoBue, Koraly Pérez-Edgar
This article examines the patterns, and consequences, of infant temperamental reactivity to novel sensory input in a large ( N = 357; 271 in current analysis) and diverse longitudinal sample through two approaches. First, we examined profiles of reactivity in 4-month-old infants using the traditional theory-driven analytic approach laid out by Jerome Kagan and colleagues, and derived groups characterized by extreme patterns of negative reactivity and positive reactivity. We then used a theory-neutral, data-driven approach to create latent profiles of reactivity from the same infants...
January 8, 2024: Developmental Psychology
https://read.qxmd.com/read/38108034/the-vagal-paradox-a-polyvagal-solution
#12
REVIEW
Stephen W Porges
Although there is a consistent literature documenting that vagal cardioinhibitory pathways support homeostatic functions, another less frequently cited literature implicates vagal cardioinhibitory pathways in compromises to survival in humans and other mammals. The latter is usually associated with threat reactions, chronic stress, and potentially lethal clinical conditions such as hypoxia. Solving this 'vagal paradox' in studies conducted in the neonatal intensive care unit served as the motivator for the Polyvagal Theory (PVT)...
November 2023: Comprehensive psychoneuroendocrinology
https://read.qxmd.com/read/38068424/effects-of-vojta-therapy-on-the-motor-function-of-children-with-neuromotor-disorders-study-protocol-for-a-randomized-controlled-trial
#13
JOURNAL ARTICLE
Mónica Menéndez-Pardiñas, Miguel Alonso-Bidegaín, Fernando Santonja-Medina, Juan Luis Sánchez-González, Jose Manuel Sanz-Mengibar
BACKGROUND: Infantile cerebral palsy is a neurological pathology that causes great morbidity, mortality, and disability in people who suffer from it, mainly affecting motor development. There are a multitude of non-pharmacological methods or therapies for its treatment. One of the main methods is Vojta therapy. This methodology acts on ontogenetic postural function and automatic postural control. OBJECTIVE: This study aims to demonstrate that there are changes in the motor development of children with cerebral palsy with the application of Vojta therapy...
November 28, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/38021221/use-of-non-invasive-transcutaneous-auricular-vagus-nerve-stimulation-neurodevelopmental-and-sensory-follow-up
#14
JOURNAL ARTICLE
Turki Aljuhani, Patricia Coker-Bolt, Lakshmi Katikaneni, Viswanathan Ramakrishnan, Alyssa Brennan, Mark S George, Bashar W Badran, Dorothea Jenkins
OBJECTIVE: To assess the impact of non-invasive transcutaneous auricular vagal nerve stimulation (taVNS) paired with oral feeding on long-term neurodevelopmental and sensory outcomes. METHOD: We tested 21 of 35 children who as infants were gastrostomy tube (G-tube) candidates and participated in the novel, open-label trial of taVNS paired with oral feeding. To evaluate possible effects on development at 18-months after infant taVNS, we performed the Bayley-III ( n  = 10) and Sensory Profile (SP-2, n  = 12) assessments before the COVID pandemic, and Cognitive Adaptive Test (CAT), Clinical Linguistics and Auditory Milestone (CLAMS), Ages and Stages Questionnaire (ASQ), and Peabody Developmental Motor Scales-2 gross motor tests as possible during and after the pandemic...
2023: Frontiers in Human Neuroscience
https://read.qxmd.com/read/37995867/ret-signaling-persists-in-the-adult-intestine-and-stimulates-motility-by-limiting-pyy-release-from-enteroendocrine-cells
#15
JOURNAL ARTICLE
Amy Shepherd, Laurence Feinstein, Svetlana Sabel, Daniella Rastelli, Esther Mezhibovsky, Lynley Matthews, Anoohya Muppirala, Ariel Robinson, Karina R Sharma, Abrahim ElSeht, Daniel Zeve, David T Breault, Michael D Gershon, Meenakshi Rao
BACKGROUND & AIMS: RET tyrosine kinase is necessary for enteric nervous system development. Loss-of-function RET mutations cause Hirschsprung disease (HSCR), in which infants are born with aganglionic bowel. Despite surgical correction, patients with HSCR often experience chronic defecatory dysfunction and enterocolitis, suggesting that RET is important after development. To test this hypothesis, we determined the location of postnatal RET and its significance in gastrointestinal (GI) motility...
November 21, 2023: Gastroenterology
https://read.qxmd.com/read/37978037/early-infantile-spontaneous-movement-in-very-low-birthweight-infants-is-associated-with-sensory-characteristics-at-the-corrected-age-of-3%C3%A2-years
#16
JOURNAL ARTICLE
Osamu Kobayashi, Tomoki Maeda, Kenji Ihara
AIM: To clarify the relationship between early infantile spontaneous movement of very-low-birth-weight infants (VLBWIs) and sensory characteristics in childhood. STUDY DESIGN: Prospective cohort study. We investigated the association between the Motor Optimality Score-Revised (MOS-R), a detailed assessment of general movements (GMs) at the corrected age of 9-17 weeks and the Infant/Toddler Sensory Profile Japanese version (ITSP-J) at the corrected age of 3 years...
November 15, 2023: Brain & Development
https://read.qxmd.com/read/37928362/going-beyond-conventional-assessment-of-developmental-motor-disorders-exploring-video-methods-for-early-identification-among-children-0-to-3%C3%A2-years
#17
REVIEW
Maria Lopez Coxon, Catherine R Hoyt, Alyssa E Smith, Mijna Hadders-Algra
Motor skills and movement-related functioning significantly shape how children experience and interact with the world around them. Among infants and young children, developmental motor disorders contribute to delays with motor, cognitive, and psychosocial development. Early and accurate identification of these disorders is necessary to facilitate timely access to therapeutic interventions that minimize the long-term effects of disability on everyday activities and participation. In the United States, motor assessments commonly used among children 0 to 3 years focus on completion of specific motor skills at a single point in time, which provides only a part of the greater picture that is a child's motor and movement-related functioning...
2023: Adv Rehabil Sci Pract
https://read.qxmd.com/read/37925769/moyamoya-angiopathy-an-underdiagnosed-cause-of-ischemic-stroke-in-a-tunisian-pediatric-cohort
#18
JOURNAL ARTICLE
Wafa Bouchaala, Sirine Laroussi, Yosra Mzid, Imen Maaloul, Olfa Jallouli, Salma Zouari, Sihem Ben Nsir, Zeineb Mnif, Fatma Kammoun, Chahnez Triki
BACKGROUND: Moyamoya angiopathy is a rare cerebral vasculopathy and an underdiagnosed cause of arterial ischemic stroke in children. We aim to report the clinical and radiological presentations in a Tunisian pediatric cohort. METHODS: We identified moyamoya angiopathy in pediatric patients managed at the Child Neurology Department of Hedi Chaker Sfax University Hospital between 2008 and 2020 and reviewed their clinical and radiological data as well as their evolutionary profile...
January 2024: Pediatric Neurology
https://read.qxmd.com/read/37806805/vaccine-value-profile-for-cytomegalovirus
#19
JOURNAL ARTICLE
Suresh B Boppana, Michiel van Boven, William J Britt, Soren Gantt, Paul D Griffiths, Scott D Grosse, Terri B Hyde, Tatiana M Lanzieri, Marisa M Mussi-Pinhata, Sarah E Pallas, Swetha G Pinninti, William D Rawlinson, Shannon A Ross, Ann C T M Vossen, Karen B Fowler
Cytomegalovirus (CMV) is the most common infectious cause of congenital malformation and a leading cause of developmental disabilities such as sensorineural hearing loss (SNHL), motor and cognitive deficits. The significant disease burden from congenital CMV infection (cCMV) led the US National Institute of Medicine to rank CMV vaccine development as the highest priority. An average of 6.7/1000 live births are affected by cCMV, but the prevalence varies across and within countries. In contrast to other congenital infections such as rubella and toxoplasmosis, the prevalence of cCMV increases with CMV seroprevalence rates in the population...
October 6, 2023: Vaccine
https://read.qxmd.com/read/37700161/neurodevelopmental-and-behavioral-outcomes-of-very-preterm-infants-latent-profile-analysis-in-the-environmental-influences-on-child-health-outcomes-echo-program
#20
JOURNAL ARTICLE
Marie Camerota, Elisabeth C McGowan, Judy Aschner, Annemarie Stroustrup, T Michael O'Shea, Julie A Hofheimer, Robert M Joseph, Rashelle Musci, Genevieve Taylor, Brian S Carter, Jennifer Check, Lynne M Dansereau, Semsa Gogcu, Jennifer B Helderman, Charles R Neal, Steven L Pastyrnak, Lynne M Smith, Carmen J Marsit, Barry M Lester
BACKGROUND: Very preterm infants are at high risk for neurodevelopmental impairments. We used a child-centered approach (latent profile analysis [LPA]) to describe 2-year neurobehavioral profiles for very preterm infants based on cognitive, motor, and behavioral outcomes. We hypothesized that distinct outcome profiles would differ in the severity and co-occurrence of neurodevelopmental and behavioral impairment. METHODS: We studied children born <33 weeks' gestation from the Environmental influences on Child Health Outcomes Program with at least one neurobehavioral assessment at age 2 (Bayley Scales of Infant and Toddler Development, Child Behavior Checklist, Modified Checklist for Autism in Toddlers, cerebral palsy diagnosis)...
September 12, 2023: Pediatric Research
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