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Caruso, Angela, Letizia Gila, Francesca Fulceri, Tommaso Salvitti, Martina Micai, Walter Baccinelli, Maria Bulgheroni y Maria Luisa Scattoni. "Early Motor Development Predicts Clinical Outcomes of Siblings at High-Risk for Autism: Insight from an Innovative Motion-Tracking Technology". Brain Sciences 10, n.º 6 (16 de junio de 2020): 379. http://dx.doi.org/10.3390/brainsci10060379.
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Atypical motor patterns are potential early markers and predictors of later diagnosis of Autism Spectrum Disorder (ASD). This study aimed to investigate the early motor trajectories of infants at high-risk (HR) of ASD through MOVIDEA, a semi-automatic software developed to analyze 2D and 3D videos and provide objective kinematic features of their movements. MOVIDEA was developed within the Italian Network for early detection of Autism Spectrum Disorder (NIDA Network), which is currently coordinating the most extensive surveillance program for infants at risk for neurodevelopmental disorders (NDDs). MOVIDEA was applied to video recordings of 53 low-risk (LR; siblings of typically developing children) and 50 HR infants’ spontaneous movements collected at 10 days and 6, 12, 18, and 24 weeks. Participants were grouped based on their clinical outcome (18 HR received an NDD diagnosis, 32 HR and 53 LR were typically developing). Results revealed that early developmental trajectories of specific motor parameters were different in HR infants later diagnosed with NDDs from those of infants developing typically. Since MOVIDEA was useful in the association of quantitative measures with specific early motor patterns, it should be applied to the early detection of ASD/NDD markers.
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Brisson, Julie, Petra Warreyn, Josette Serres, Stephane Foussier y Jean Adrien-Louis. "Motor anticipation failure in infants with autism: a retrospective analysis of feeding situations". Autism 16, n.º 4 (16 de enero de 2012): 420–29. http://dx.doi.org/10.1177/1362361311423385.
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Previous studies on autism have shown a lack of motor anticipation in children and adults with autism. As part of a programme of research into early detection of autism, we focussed on an everyday situation: spoon-feeding. We hypothesize that an anticipation deficit may be found very early on by observing whether the baby opens his or her mouth in anticipation of the spoon’s approach. The study is based on a retrospective analysis from family home movies. Observation of infants later diagnosed with autism or an autism spectrum disorder (ASD) (n = 13) and infants with typical development (n = 14) between 4 and 6 months old show that the autism/ASD group has an early anticipation deficit.
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Bahado-Singh, Ray O., Sangeetha Vishweswaraiah, Buket Aydas y Uppala Radhakrishna. "Placental DNA methylation changes and the early prediction of autism in full-term newborns". PLOS ONE 16, n.º 7 (14 de julio de 2021): e0253340. http://dx.doi.org/10.1371/journal.pone.0253340.
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Autism spectrum disorder (ASD) is associated with abnormal brain development during fetal life. Overall, increasing evidence indicates an important role of epigenetic dysfunction in ASD. The placenta is critical to and produces neurotransmitters that regulate fetal brain development. We hypothesized that placental DNA methylation changes are a feature of the fetal development of the autistic brain and importantly could help to elucidate the early pathogenesis and prediction of these disorders. Genome-wide methylation using placental tissue from the full-term autistic disorder subtype was performed using the Illumina 450K array. The study consisted of 14 cases and 10 control subjects. Significantly epigenetically altered CpG loci (FDR p-value <0.05) in autism were identified. Ingenuity Pathway Analysis (IPA) was further used to identify molecular pathways that were over-represented (epigenetically dysregulated) in autism. Six Artificial Intelligence (AI) algorithms including Deep Learning (DL) to determine the predictive accuracy of CpG markers for autism detection. We identified 9655 CpGs differentially methylated in autism. Among them, 2802 CpGs were inter- or non-genic and 6853 intragenic. The latter involved 4129 genes. AI analysis of differentially methylated loci appeared highly accurate for autism detection. DL yielded an AUC (95% CI) of 1.00 (1.00–1.00) for autism detection using intra- or intergenic markers by themselves or combined. The biological functional enrichment showed, four significant functions that were affected in autism: quantity of synapse, microtubule dynamics, neuritogenesis, and abnormal morphology of neurons. In this preliminary study, significant placental DNA methylation changes. AI had high accuracy for the prediction of subsequent autism development in newborns. Finally, biologically functional relevant gene pathways were identified that may play a significant role in early fetal neurodevelopmental influences on later cognition and social behavior.
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Lakshmi Praveena, T. y N. V. Muthu Lakshmi. "Prediction of Autism Spectrum Disorder Using Supervised Machine Learning Algorithms". Asian Journal of Computer Science and Technology 8, n.º 3 (15 de noviembre de 2019): 15–18. http://dx.doi.org/10.51983/ajcst-2019.8.3.2734.
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Autism appears to be a neuro developmental disorder that is visible in the early years. It is a wide-spectrum disorder that indicates that the severity and symptoms can vary from person to person. The Centre for Disease Control found that one in 68 was diagnosed with autism spectrum disorder with increasing numbers in every year. Detection of autism in adults is a cumbersome procedure because in adults, many symptoms can blend with some other mental health, motor impairment disorders so misinterpretation of actual diseases can in turn lead to a terrible life without proper diagnosis and effective treatment mechanisms. Machine learning is a powerful computer tool that supports different application domains Learning complex relationships or patterns from large datasets to draw accurate conclusions. Disease assessment can be done with predictive health data analysis and more appropriate treatment mechanisms that are now a hot area of research. Supervised learning is an important step of Machine learning which uses a rule-based approach by examining empirical data sets to build accurate predictive models. In this paper, decision tree, random forest, SVM, neural networks algorithms are applied on autism spectrum data which have been collected from UCI repository. The results of decision tree, random forest, SVM, neural networks algorithms on autism dataset are presented in this paper in an efficient manner. Analysis performed over these accurate results which will be useful to make right decisions in predicting autism spectrum disorder (ASD) at early stages. Thus, early autism intervention using machine learning techniques opens up a new way for autistic individuals to develop the potential to lead a better life by improving their behavioural and emotional skills.
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Shimomura, Hideki, Hideki Hasunuma, Sachi Tokunaga, Yohei Taniguchi, Naoko Taniguchi, Tetsuro Fujino, Takeshi Utsunomiya et al. "Early Developmental Signs in Children with Autism Spectrum Disorder: Results from the Japan Environment and Children’s Study". Children 9, n.º 1 (10 de enero de 2022): 90. http://dx.doi.org/10.3390/children9010090.
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Autism spectrum disorder (ASD) is a developmental disability in early childhood. Early identification and intervention in children with ASD are essential for children and their families. This study aimed to identify the earliest signs of ASD. Using a large cohort including data from 104,062 fetal records in the Japan Environment and Children’s Study, we examined the Ages and Stages Questionnaires® (ASQ-3TM) scores of children with and without ASD. The ASQ-3 comprises five domains: communication, gross motor, fine motor, problem solving, and personal-social. The ASQ-3 scores were obtained at ages 6 months, 1 year, and 3 years. There were 64,501 children with available ASQ-3 data. The number of children diagnosed with ASD was 188 (0.29%) at 3 years of age. The highest relative risk (RR) for any domain below the monitoring score at 6 months was in the communication (RR 1.90, 95% CI 1.29–2.78, p = 0.0041), followed by fine motor (RR 1.50, 95% CI 1.28–1.76, p < 0.0001) domain. A low ASQ-3 score in the communication domain at 6 months was related to an ASD diagnosis at 3 years of age. The ASQ-3 score at 6 months can contribute to the early identification of and intervention for ASD.
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Ribeiro, Louise Bogéa y Manoel da Silva Filho. "EVALUATION OF STEREOTYPED MOVEMENTS USING HIGH TECHNOLOGY DEVICES FOR EARLY DIAGNOSIS AND TREATMENT OF AUTISM". International Journal of Health Sciences 4, n.º 1 (6 de julio de 2021): 1–6. http://dx.doi.org/10.47941/ijhs.609.
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Purpose: Delays and motor deficiencies in Autism Spectrum Disorder (ASD) are extremely common and often announce the appearance of widespread atypical development. However, they are not properly emphasized in the diagnostic or assessment criteria for ASD. Thus, our paper provides a literature review on the motor evaluation of stereotyped movements of ASD individuals in relation to early diagnosis, treatment and possible interventions.
Methodology: Computerized searches (Pubmed) and manual searches were performed to identify the most relevant studies. We used the following keywords and search terms: autism spectrum disorder, autism, ASD, motor skills, motor disorders, stereotyped movement, assessment, evaluation, measurement, diagnosis, detection. Identified studies were screened by abstracts and conclusions for relevance. The criteria for the inclusion in the review were as follows: peer-reviewed studies; published after 2010; English-language. The following exclusion criteria were applied: published before 2010; participants diagnosed with other developmental disorders than ASD; studies focusing on participants with ASD that did not evaluate motor skills and development.
Findings: Early diagnosis of ASD is essential to develop effective interventions and mitigate the ASD main symptoms. Our results show that objective and quantitative measures of motor function should be considered as a priority for future research on the subject.
Unique contribution to theory, practice and policy: Specific motor and movement deviations such as stereotyped movements must be evaluated using high technology devices to promote the early diagnosis of children with ASD. Thus, motor deficits should be considered to effectively diagnose ASD. We highly recommend evaluating movement using quantitative methods to assess significant gaps in motor function of ASD individuals.
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Triyasakorn, Korawin, Ubah Dominic Babah Ubah, Brandon Roan, Minsyusheen Conlin, Ken Aho y Prabha S. Awale. "The Antiepileptic Drug and Toxic Teratogen Valproic Acid Alters Microglia in an Environmental Mouse Model of Autism". Toxics 10, n.º 7 (9 de julio de 2022): 379. http://dx.doi.org/10.3390/toxics10070379.
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Autism spectrum disorder (ASD), a neurodevelopmental condition affecting approximately 1 in 44 children in North America, is thought to be a connectivity disorder. Valproic acid (VPA) is a multi-target drug widely used to treat epilepsy. It is also a toxic teratogen as well as a histone deacetylase inhibitor, and fetal exposure to VPA increases the risk of ASD. While the VPA model has been well-characterized for behavioral and neuronal deficits including hyperconnectivity, microglia, the principal immune cells of CNS that regulate dendrite and synapse formation during early brain development, have not been well-characterized and may provide potential hints regarding the etiology of this disorder. Therefore, in this study, we determined the effect of prenatal exposure to VPA on microglial numbers during early postnatal brain development. We found that prenatal exposure to VPA causes a significant reduction in the number of microglia in the primary motor cortex (PMC) during early postnatal brain development, particularly at postnatal day 6 (P6) and postnatal day 10 (P10) in male mice. The early microglial reduction in the VPA model coincides with active cortical synaptogenesis and is significant because it may potentially play a role in mediating impaired connectivity in ASD.
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Oster, Linda M. y Guangwei Zhou. "Balance and Vestibular Deficits in Pediatric Patients with Autism Spectrum Disorder: An Underappreciated Clinical Aspect". Autism Research and Treatment 2022 (16 de agosto de 2022): 1–5. http://dx.doi.org/10.1155/2022/7568572.
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Children with autism spectrum disorder (ASD) not only have communication and social difficulties, but also exhibit poor balance and motor control ability, which frequently affect daily activities. Effective balance and motor control rely on the integration of somatosensory, visual, and vestibular inputs. Although reports of balance dysfunction in ASD have been documented, comprehensive studies of balance and vestibular function in children with ASD are scarce. In this study, we retrospectively reviewed 36 pediatric patients diagnosed with ASD who underwent balance/vestibular laboratory testing in our speciality clinic. Results from sensory organization test (SOT) or modified clinical test for sensory integration of balance (mCTSIB) found that out of 15 patients, 80% had abnormal findings. Of the children who successfully completed each vestibular test, abnormal responses were observed in 12 (80%) sensory organization tests, 5 (24%) vestibular evoked myogenic potential (VEMP), 22 (66%) videonystagmography (VNG), and 11 (32%) sinusoidal rotary chair tests. These results indicate that balance and vestibular testing may be of diagnostic value for clinicians and providers as an aid in early detection, intervention, and the development of appropriate management and therapies for this patient population. Increased awareness of this topic is warranted to promote better clinical management of this special group of patients and improve their quality of life.
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Ornoy, Asher, Maria Becker, Liza Weinstein-Fudim y Zivanit Ergaz. "Diabetes during Pregnancy: A Maternal Disease Complicating the Course of Pregnancy with Long-Term Deleterious Effects on the Offspring. A Clinical Review". International Journal of Molecular Sciences 22, n.º 6 (15 de marzo de 2021): 2965. http://dx.doi.org/10.3390/ijms22062965.
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In spite of the huge progress in the treatment of diabetes mellitus, we are still in the situation that both pregestational (PGDM) and gestational diabetes (GDM) impose an additional risk to the embryo, fetus, and course of pregnancy. PGDM may increase the rate of congenital malformations, especially cardiac, nervous system, musculoskeletal system, and limbs. PGDM may interfere with fetal growth, often causing macrosomia, but in the presence of severe maternal complications, especially nephropathy, it may inhibit fetal growth. PGDM may also induce a variety of perinatal complications such as stillbirth and perinatal death, cardiomyopathy, respiratory morbidity, and perinatal asphyxia. GDM that generally develops in the second half of pregnancy induces similar but generally less severe complications. Their severity is higher with earlier onset of GDM and inversely correlated with the degree of glycemic control. Early initiation of GDM might even cause some increase in the rate of congenital malformations. Both PGDM and GDM may cause various motor and behavioral neurodevelopmental problems, including an increased incidence of attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Most complications are reduced in incidence and severity with the improvement in diabetic control. Mechanisms of diabetic-induced damage in pregnancy are related to maternal and fetal hyperglycemia, enhanced oxidative stress, epigenetic changes, and other, less defined, pathogenic mechanisms.
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Luke, Carly R., Katherine Benfer, Leeann Mick-Ramsamy, Robert S. Ware, Natasha Reid, Arend F. Bos, Margot Bosanquet y Roslyn N. Boyd. "Early detection of Australian Aboriginal and Torres Strait Islander infants at high risk of adverse neurodevelopmental outcomes at 12 months corrected age: LEAP-CP prospective cohort study protocol". BMJ Open 12, n.º 1 (enero de 2022): e053646. http://dx.doi.org/10.1136/bmjopen-2021-053646.
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IntroductionNeurodevelopmental disorders (NDD), including cerebral palsy (CP), autism spectrum disorder (ASD) and foetal alcohol spectrum disorder (FASD), are characterised by impaired development of the early central nervous system, impacting cognitive and/or physical function. Early detection of NDD enables infants to be fast-tracked to early intervention services, optimising outcomes. Aboriginal and Torres Strait Islander infants may experience early life factors increasing their risk of neurodevelopmental vulnerability, which persist into later childhood, further compounding the health inequities experienced by First Nations peoples in Australia. The LEAP-CP prospective cohort study will investigate the efficacy of early screening programmes, implemented in Queensland, Australia to earlier identify Aboriginal and Torres Strait Islander infants who are ‘at risk’ of adverse neurodevelopmental outcomes (NDO) or NDD. Diagnostic accuracy and feasibility of early detection tools for identifying infants ‘at risk’ of a later diagnosis of adverse NDO or NDD will be determined.Methods and analysisAboriginal and/or Torres Strait Islander infants born in Queensland, Australia (birth years 2020–2022) will be invited to participate. Infants aged <9 months corrected age (CA) will undergo screening using the (1) General Movements Assessment (GMA); (2) Hammersmith Infant Neurological Examination (HINE); (3) Rapid Neurodevelopmental Assessment (RNDA) and (4) Ages and Stages Questionnaire-Aboriginal adaptation (ASQ-TRAK). Developmental outcomes at 12 months CA will be determined for: (1) neurological (HINE); (2) motor (Peabody Developmental Motor Scales 2); (3) cognitive and communication (Bayley Scales of Infant Development III); (4) functional capabilities (Paediatric Evaluation of Disability Inventory-Computer Adaptive Test) and (5) behaviour (Infant Toddler Social and Emotional Assessment). Infants will be classified as typically developing or ‘at risk’ of an adverse NDO and/or specific NDD based on symptomology using developmental and diagnostic outcomes for (1) CP (2) ASD and (3) FASD. The effects of perinatal, social and environmental factors, caregiver mental health and clinical neuroimaging on NDOs will be investigated.Ethics and disseminationEthics approval has been granted by appropriate Queensland ethics committees; Far North Queensland Health Research Ethics Committee (HREC/2019/QCH/50533 (Sep ver 2)-1370), the Townsville HHS Human Research Ethics Committee (HREC/QTHS/56008), the University of Queensland Medical Research Ethics Committee (2020000185/HREC/2019/QCH/50533) and the Children’s Health Queensland HHS Human Research Ethics Committee (HREC/20/QCHQ/63906) with governance and support from local First Nations communities. Findings from this study will be disseminated via peer-reviewed publications and conference presentations.Trial registration numberACTRN12619000969167.
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Li, Hui-Li, Ling-Ling Chen, Gang Qian, Wei-Shi Wang, Xiao-Na Feng, Mei-Qiao Yu y Lu-Zhong Ren. "A Birth Cohort Study of Neurodevelopmental Outcomes from Birth to 2 Years of Age in Preterm Infants under 34 Weeks of Gestation". Journal of Healthcare Engineering 2022 (13 de abril de 2022): 1–8. http://dx.doi.org/10.1155/2022/7496785.
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Background. The tissues and organs of premature infants are immature and easily damaged by external adverse factors, leading to functional development disorders and abnormalities. Besides, the incidence of premature babies in various countries has an increasing trend, with the incidence rate exceeding 10%. Objective. This study aims to investigate the neurodevelopment and the incidence of various developmental delays, cerebral palsy, autism spectrum disorder, and audio-visual impairment in premature infants under 34 weeks of gestation from birth to 2 years of age, so as to provide the basis for early intervention of premature infants in the clinic. Methods A cohort of premature infants was established using 263 premature infants with a gestational age of 28–33 + 6 weeks who were born alive from March 1, 2018, to February 28, 2019, in four tertiary hospitals in Shenzhen. In addition, 263 full-term infants of the same sex who were born in the same period in the four hospitals were randomly selected and paired in a ratio of 1 : 1 as the control group. The subjects were assessed for neurodevelopment using the Gesell test scale at 6, 12, 18, and 24 months after birth (premature infants were corrected for months). We calculated the neurodevelopmental indicators of children in each month of age and the incidence of various developmental delays, cerebral palsy, autism spectrum disorder, and audio-visual impairment in the two groups. Results The results of this study showed that the cohort of premature infants with birth gestational age less than 34 weeks had higher adaptive, fine motor, and personal-social energy domain development quotient (DQ) values from the corrected gestational age of 6 months to the corrected gestational age of 24 months after birth compared with the full-term cohort. And it also achieved catch-up growth in neurological development, but the detection rates of neurodevelopmental abnormalities at the corrected gestational age of 12 and 24 months were higher than those in the full-term cohort. Conclusion It is important to reduce the disability rate and degree of premature infants by strengthening the systematic management, early promotion and supervision, as well as early intervention for preterm infants with developmental abnormalities who were born at gestational age less than 34 weeks after birth.
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Hong, Keum-Shik y M. Atif Yaqub. "Application of functional near-infrared spectroscopy in the healthcare industry: A review". Journal of Innovative Optical Health Sciences 12, n.º 06 (noviembre de 2019): 1930012. http://dx.doi.org/10.1142/s179354581930012x.
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Functional near-infrared spectroscopy (fNIRS), a growing neuroimaging modality, has been utilized over the past few decades to understand the neuronal behavior in the brain. The technique has been used to assess the brain hemodynamics of impaired cohorts as well as able-bodied. Neuroimaging is a critical technique for patients with impaired cognitive or motor behaviors. The portable nature of the fNIRS system is suitable for frequent monitoring of the patients who exhibit impaired brain activity. This study comprehensively reviews brain-impaired patients: The studies involving patient populations and the diseases discussed in more than 10 works are included. Eleven diseases examined in this paper include autism spectrum disorder, attention-deficit hyperactivity disorder, epilepsy, depressive disorders, anxiety and panic disorder, schizophrenia, mild cognitive impairment, Alzheimer’s disease, Parkinson’s disease, stroke, and traumatic brain injury. For each disease, the tasks used for examination, fNIRS variables, and significant findings on the impairment are discussed. The channel configurations and the regions of interest are also outlined. Detecting the occurrence of symptoms at an earlier stage is vital for better rehabilitation and faster recovery. This paper illustrates the usability of fNIRS for early detection of impairment and the usefulness in monitoring the rehabilitation process. Finally, the limitations of the current fNIRS systems (i.e., nonexistence of a standard method and the lack of well-established features for classification) and future research directions are discussed. The authors hope that the findings in this paper would lead to advanced breakthrough discoveries in the fNIRS field in the future.
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Mohd Nordin, Ashikin, Juriza Ismail y Norazlin Kamal Nor. "Motor Development in Children With Autism Spectrum Disorder". Frontiers in Pediatrics 9 (15 de septiembre de 2021). http://dx.doi.org/10.3389/fped.2021.598276.
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Objective: This study was conducted to determine the gross and fine motor profiles of children with autism spectrum disorder compared to typically developing children. Additionally, we also assessed if the motor delay was more pronounced with increasing age.Method: This was a retrospective study involving children aged 12–60 months of age comparing motor development in children with autism spectrum disorder with typically developing children. Their developmental profile was assessed using Schedule of Growing Skills II. Descriptive statistics was used to analyse the developmental profile between the groups.Results: ASD children had significant gross motor (6.7%) and fine motor delay (38.5%) compared to typically developing children, who did not show any delay. The motor delay in ASD children was more prominent in older children.Conclusion: It is important to assess motor development in ASD children as there is significant motor delay in these children compared to typically developing children, and the delay becomes more prominent with age. Early detection of motor delay could allow provision of early intervention services to optimize developmental outcomes.
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Torabi, Reza, Serena Jenkins, Allonna Harker, Ian Q. Whishaw, Robbin Gibb y Artur Luczak. "A Neural Network Reveals Motoric Effects of Maternal Preconception Exposure to Nicotine on Rat Pup Behavior: A New Approach for Movement Disorders Diagnosis". Frontiers in Neuroscience 15 (20 de julio de 2021). http://dx.doi.org/10.3389/fnins.2021.686767.
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Neurodevelopmental disorders can stem from pharmacological, genetic, or environmental causes and early diagnosis is often a key to successful treatment. To improve early detection of neurological motor impairments, we developed a deep neural network for data-driven analyses. The network was applied to study the effect of maternal nicotine exposure prior to conception on 10-day-old rat pup motor behavior in an open field task. Female Long-Evans rats were administered nicotine (15 mg/L) in sweetened drinking water (1% sucralose) for seven consecutive weeks immediately prior to mating. The neural network outperformed human expert designed animal locomotion measures in distinguishing rat pups born to nicotine exposed dams vs. control dams (87 vs. 64% classification accuracy). Notably, the network discovered novel movement alterations in posture, movement initiation and a stereotypy in “warm-up” behavior (repeated movements along specific body dimensions) that were predictive of nicotine exposure. The results suggest novel findings that maternal preconception nicotine exposure delays and alters offspring motor development. Similar behavioral symptoms are associated with drug-related causes of disorders such as autism spectrum disorder and attention-deficit/hyperactivity disorder in human children. Thus, the identification of motor impairments in at-risk offspring here shows how neuronal networks can guide the development of more accurate behavioral tests to earlier diagnose symptoms of neurodevelopmental disorders in infants and children.
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Bakare, Muideen O., Thomas W. Frazier, Arun Karpur, Amina Abubakar, Moses Kachama Nyongesa, Paul Murimu Mwangi, Pamela Dixon et al. "Brief report: Validity and reliability of the Nigerian Autism Screening Questionnaire". Autism, 9 de marzo de 2022, 136236132210802. http://dx.doi.org/10.1177/13623613221080250.
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Informant-report measures for screening symptoms of autism spectrum disorder (ASD) and other neurodevelopmental disorders (NDDs) are needed for low-resource settings if early identification is to be prioritized because early developmental concerns are likely to be expressed by parents and other caregivers. This paper describes the initial psychometric evaluation of the Nigeria Autism Screening Questionnaire (NASQ). Parents and other caregivers completed the NASQ on 12,311 children ages 1 to 18 in a Nigerian population sample as part of the World Bank National General Household Survey conducted in the country in 2016. Factor analyses indicated a parsimonious three-factor structure with social communication/interaction, repetitive sensory motor, and insistence on sameness dimensions. Measurement invariance was excellent across age and sex. Reliability of the subscales and total scale was good, and item response theory analyses indicated good measurement precision in the range from below average to high scores, crucial for screening, and tracking ASD symptoms. Studies with gold standard ASD diagnostic instruments and clinical confirmation are needed to evaluate screening and diagnostic accuracy. The NASQ appears to be a reliable instrument with a clear factor structure and potential for use in screening and tracking ASD symptoms in future Nigerian samples. Lay abstract Early intervention for individuals with autism spectrum disorder (ASD) is dependent on reliable methods for early detection. Screening for ASD symptoms is an important strategy in low- and middle-income countries that often lack adequate service infrastructure. This study aims to conduct preliminary evaluation of the psychometric properties of a tool developed and deployed in Nigeria called the Nigerian Autism Screening Questionnaire (NASQ). Results demonstrated that NASQ, when used as a community-based survey, has a clear factor structure with consistent measurement across age and sex, and that scores from below average to well above average are measured reliably. Future research is needed to examine the performance of this tool against confirmatory ASD diagnosis in screening and diagnostic contexts to further understand the utility and applicability of this tool in the resource-limited Nigerian setting.
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Gardella, Barbara, Mattia Dominoni, Annachiara Licia Scatigno, Stefania Cesari, Giacomo Fiandrino, Simona Orcesi y Arsenio Spinillo. "What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature". Frontiers in Endocrinology 13 (19 de agosto de 2022). http://dx.doi.org/10.3389/fendo.2022.936171.
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The placenta plays a fundamental role during pregnancy for fetal growth and development. A suboptimal placental function may result in severe consequences during the infant’s first years of life. In recent years, a new field known as neuroplacentology has emerged and it focuses on the role of the placenta in fetal and neonatal brain development. Because of the limited data, our aim was to provide a narrative review of the most recent knowledge about the relation between placental lesions and fetal and newborn neurological development. Papers published online from 2000 until February 2022 were taken into consideration and particular attention was given to articles in which placental lesions were related to neonatal morbidity and short-term and long-term neurological outcome. Most research regarding the role of placental lesions in neurodevelopment has been conducted on fetal growth restriction and preterm infants. Principal neurological outcomes investigated were periventricular leukomalacia, intraventricular hemorrhages, neonatal encephalopathy and autism spectrum disorder. No consequences in motor development were found. All the considered studies agree about the crucial role played by placenta in fetal and neonatal neurological development and outcome. However, the causal mechanisms remain largely unknown. Knowledge on the pathophysiological mechanisms and on placenta-related risks for neurological problems may provide clues for early interventions aiming to improve neurological outcomes, especially among pediatricians and child psychiatrists.
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Tangeraas, Trine, Juliana R. Constante, Paul Hoff Backe, Alfonso Oyarzábal, Julia Neugebauer, Natalie Weinhold, Francois Boemer et al. "BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening". Brain, 2 de febrero de 2023. http://dx.doi.org/10.1093/brain/awad010.
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Abstract There are few causes of treatable neurodevelopmental diseases described to date. Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability, and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum. Moreover, this is the first study to present newborn screening findings and mid-term clinical outcome. In this cross-sectional study, patients with a diagnosis of BCKDK deficiency were recruited via investigators’ practices through a MetabERN initiative. Clinical, biochemical and genetic data were collected. Dried blood spot (DBS) newborn screening (NBS) amino acid profiles were retrieved from collaborating centers and compared to a healthy newborn reference population. Twenty-one patients with BCKDK mutations were included from 13 families. Patients were diagnosed between 8 months and 16 years (mean: 5.8 years, 43% female). At diagnosis, BCAA levels (leucine, valine, and isoleucine) were below reference values in plasma and in cerebrospinal fluid. All patients had global neurodevelopmental delay; 18/21 had gross motor function (GMF) impairment with GMF III or worse in 5/18, 16/16 intellectual disability, 17/17 language impairment, 12/17 autism spectrum disorder, 9/21 epilepsy, 12/15 clumsiness, 3/21 had sensorineural hearing loss and 4/20 feeding difficulties. No microcephaly was observed at birth, but 17/20 developed microcephaly during follow-up. Regression was reported in 6 patients. Movement disorder was observed in 3/21 patients: hyperkinetic movements (1), truncal ataxia (1) and dystonia (2). After treatment with high protein diet (≥ 2 g/kg/day) and BCAA supplementation (100-250 mg/kg/day), plasma BCAA increased significantly (p < 0.001), motor functions and head circumference stabilized/improved in 13/13 and in 11/15 patients, respectively. Amongst cases with follow-up data, none of the 3 patients starting treatment before 2 years of age developed autism at follow-up. The patient with the earliest age of treatment initiation (8 months) showed normal development at 3 years of age. NBS in DBS identified BCAA levels significantly lower than those of the normal population. This work highlights the potential benefits of dietetic treatment, in particular early introduction of BCAA. Therefore, it is of utmost importance to increase awareness about this treatable disease and consider it as a candidate for early detection by NBS programs.
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Bosch, Rosa, Mireia Pagerols, Cristina Rivas, Laura Sixto, Laura Bricollé, Gemma Español-Martín, Raquel Prat, Josep A. Ramos-Quiroga y Miquel Casas. "Neurodevelopmental disorders among Spanish school-age children: prevalence and sociodemographic correlates". Psychological Medicine, 13 de enero de 2021, 1–11. http://dx.doi.org/10.1017/s0033291720005115.
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Abstract Background Prevalence estimates of neurodevelopmental disorders (ND) are essential for treatment planning. However, epidemiological research has yielded highly variable rates across countries, including Spain. This study examined the prevalence and sociodemographic correlates of ND in a school sample of Spanish children and adolescents. Methods The Child Behaviour Checklist/Teacher's Report Form/Youth Self-Report and the Conners' Rating Scales were administered for screening purposes. Additionally, teachers provided information on reading and writing difficulties. Subjects who screened positive were interviewed for diagnostic confirmation according to the Diagnostic and Statistical Manual of Mental Disorders criteria. The final population comprised 6834 students aged 5–17. Multivariate analyses were performed to determine the influence of gender, age, educational stage, school type, socioeconomic status (SES), and ethnicity on the prevalence estimates. Results A total of 1249 (18.3%) subjects met criteria for at least one ND, although only 423 had already received a diagnosis. Specifically, the following prevalence rates were found: intellectual disabilities (ID), 0.63%; communication disorders, 1.05%; autism spectrum disorder (ASD), 0.70%; attention-deficit/hyperactivity disorder (ADHD), 9.92%; specific learning disorder (SLD), 10.0%; and motor disorders, 0.76%. Students of foreign origin and from low SES evidenced higher odds of having ID. Boys were more likely to display ASD or a motor disorder. Age, SES, and ethnicity were significant predictors for SLD, while communication disorders and ADHD were also associated with gender. Conclusions The prevalence of ND among Spanish students is consistent with international studies. However, a substantial proportion had never been previously diagnosed, which emphasise the need for early detection and intervention programmes.