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Revista de Saude Publica 2023To assess risk factors associated with motor development delay at three months of age.
OBJECTIVE
To assess risk factors associated with motor development delay at three months of age.
METHODS
Cross-sectional study with mothers and their three-month-old babies in Southern Brazil. The Bayley-III Scale of Infant and Toddler Development (BSID-III) and the Alberta Infant Motor Scale (AIMS) were used to assess motor development.
RESULTS
We evaluated 756 mothers and their three-month-old babies. The overall mean motor development assessed by the BSID-III and the AIMS was 104.7 (SD 13.5) and 55.4 (SD 25.4), respectively. When assessed by the BSID-III, the lowest motor development scores were among babies born by cesarean delivery (p = 0.002), prematurely (p < 0.001), and with low birth weight (p < 0.001). When assessed by the AIMS, babies born prematurely (p = 0.002) and with low birth weight (p=0.004) had the lowest motor development means. After a cluster analysis, we found that babies born by cesarean delivery, with low birth weight, and prematurely had more impaired motor development compared with children born without any risk factors.
CONCLUSION
Identifying risk factors allows the implementation of early interventions to prevent motor development delay and, therefore, reduce the probability of other future problems.
Topics: Infant, Newborn; Infant; Pregnancy; Female; Humans; Child Development; Brazil; Cross-Sectional Studies; Infant, Low Birth Weight; Risk Factors
PubMed: 37878845
DOI: 10.11606/s1518-8787.2023057004991 -
The Journal of Clinical Endocrinology... Dec 2023Monocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder, with daily care posing a heavy burden on caregivers. A comprehensive...
CONTEXT
Monocarboxylate transporter 8 (MCT8) deficiency is a rare neurodevelopmental and metabolic disorder, with daily care posing a heavy burden on caregivers. A comprehensive overview of these complex needs and daily care challenges is lacking.
DESIGN
We established an international prospective registry to systemically capture data from parents and physicians caring for patients with MCT8 deficiency. Parent-reported data on complex needs and daily care challenges were extracted.
RESULTS
Between July 17, 2018, and May 16, 2022, 51 patients were registered. Difficulties in daily life care were mostly related to feeding and nutritional status (17/33 patients), limited motor skills (12/33 patients), and sleeping (11/33 patients). Dietary advice was provided for 11/36 patients. Two of 32 patients were under care of a cardiologist. Common difficulties in the diagnostic trajectory included late diagnosis (20/35 patients) and visiting a multitude of specialists (15/35 patients). Median diagnostic delay was significantly shorter in patients born in or after 2017 vs before 2017 (8 vs 19 months, P < .0001).
CONCLUSIONS
Feeding and sleeping problems and limited motor skills mostly contribute to difficulties in daily care. The majority of patients did not receive professional dietary advice, although being underweight is a key disease feature, strongly linked with poor survival. Despite sudden death being a prominent cause of death, potentially related to the cardiovascular abnormalities frequently observed, patients were hardly seen by cardiologists. These findings can directly improve patient-centered multidisciplinary care and define patient-centered outcome measures for intervention studies in patients with MCT8 deficiency.
Topics: Humans; Delayed Diagnosis; Mental Retardation, X-Linked; Monocarboxylic Acid Transporters; Muscle Hypotonia; Muscular Atrophy; Symporters
PubMed: 37450560
DOI: 10.1210/clinem/dgad412 -
Brain Sciences Sep 2023Though considered a benign condition, idiopathic infantile nystagmus (IIN) may be associated with decreased visual acuity and oculo-motor abnormalities, resulting in...
Though considered a benign condition, idiopathic infantile nystagmus (IIN) may be associated with decreased visual acuity and oculo-motor abnormalities, resulting in developmental delays and poor academic performance. Nevertheless, the specific visual function profile of IIN and its possible impact on neuropsychological development have been poorly investigated. To fill this gap, we retrospectively collected the clinical data of 60 children presenting with IIN over a 10-year period (43 male; mean age of 7 years, range of 2 months-17 years, 9 months). The majority of the subjects in our cohort presented with reduced visual acuity for far distances and normal visual acuity for near distances, associated with oculo-motor abnormalities. The overall scores of cognitive and visual-cognitive tests were in the normal range, but revealed peculiar cognitive and visual-cognitive profiles, defined by specific frailties in processing speed and visual-motor integration. The same neuropsychological profiles characterize many neurodevelopmental disorders and may express a transnosographic vulnerability of the dorsal stream. As the first study to explore the neuropsychologic competencies in children with IIN, our study unveils the presence of subclinical frailties that need to be addressed to sustain academic and social inclusion.
PubMed: 37759948
DOI: 10.3390/brainsci13091348 -
Proceedings of the National Academy of... Dec 2023Severity of neurobehavioral deficits in children born from adverse pregnancies, such as maternal alcohol consumption and diabetes, does not always correlate with the...
Severity of neurobehavioral deficits in children born from adverse pregnancies, such as maternal alcohol consumption and diabetes, does not always correlate with the adversity's duration and intensity. Therefore, biological signatures for accurate prediction of the severity of neurobehavioral deficits, and robust tools for reliable identification of such biomarkers, have an urgent clinical need. Here, we demonstrate that significant changes in the alternative splicing (AS) pattern of offspring lymphocyte RNA can function as accurate peripheral biomarkers for motor learning deficits in mouse models of prenatal alcohol exposure (PAE) and offspring of mother with diabetes (OMD). An aptly trained deep-learning model identified 29 AS events common to PAE and OMD as superior predictors of motor learning deficits than AS events specific to PAE or OMD. Shapley-value analysis, a game-theory algorithm, deciphered the trained deep-learning model's learnt associations between its input, AS events, and output, motor learning performance. Shapley values of the deep-learning model's input identified the relative contribution of the 29 common AS events to the motor learning deficit. Gene ontology and predictive structure-function analyses, using Alphafold2 algorithm, supported existing evidence on the critical roles of these molecules in early brain development and function. The direction of most AS events was opposite in PAE and OMD, potentially from differential expression of RNA binding proteins in PAE and OMD. Altogether, this study posits that AS of lymphocyte RNA is a rich resource, and deep-learning is an effective tool, for discovery of peripheral biomarkers of neurobehavioral deficits in children of diverse adverse pregnancies.
Topics: Mice; Animals; Child; Humans; Pregnancy; Female; Alternative Splicing; Prenatal Exposure Delayed Effects; Ethanol; Diabetes Mellitus; Biomarkers; RNA; Fetal Alcohol Spectrum Disorders
PubMed: 38051767
DOI: 10.1073/pnas.2304074120 -
Journal of Clinical Neuroscience :... Sep 2023Stroke presenting with a reduced level of consciousness (RLOC) may result in diagnostic error and/or delay. Missed or delayed diagnosis of acute ischaemic stroke may... (Review)
Review
INTRODUCTION
Stroke presenting with a reduced level of consciousness (RLOC) may result in diagnostic error and/or delay. Missed or delayed diagnosis of acute ischaemic stroke may preclude otherwise applicable hyperacute stroke interventions. The frequency, reasons for, and consequences of diagnostic error and delay due to RLOC are uncertain.
METHOD
The databases PubMed, EMBASE, and Cochrane library were searched in adherence with the PRISMA guidelines. The systematic review was prospectively registered on PROSPERO.
RESULTS
Initial searches returned 1162 results, of which 6 fulfilled inclusion criteria. The majority of identified studies show that ischaemic stroke presenting with RLOC is at increased risk of missed or delayed diagnosis. Hyperacute stroke interventions may also be delayed. There is limited evidence regarding the reason for these delays; however, the delays may result from neuroimaging delay associated with diagnostic uncertainty. There is also limited evidence regarding the outcomes of patients with stroke and RLOC who experience diagnostic delay; however, the available literature suggests that outcomes may be poor, including motor and cognitive impairment, as well as long-term impaired consciousness. The included studies did not evaluate, but have suggested urgent MRI access, educational interventions, and protocolisation of the evaluation of RLOC as means to reduce poor outcomes.
CONCLUSIONS
Ischaemic stroke patients with RLOC are at risk of diagnostic delay and error. These patients may have poor outcomes. Additional research is required to identify the contributing factors more clearly and to provide amelioration strategies.
Topics: Humans; Stroke; Brain Ischemia; Consciousness; Delayed Diagnosis; Ischemic Stroke
PubMed: 37454440
DOI: 10.1016/j.jocn.2023.07.009 -
Neural Regeneration Research Dec 2023Dendrites play irreplaceable roles in the nerve conduction pathway and are vulnerable to various insults. Peripheral axotomy of motor neurons results in the retraction...
Dendrites play irreplaceable roles in the nerve conduction pathway and are vulnerable to various insults. Peripheral axotomy of motor neurons results in the retraction of dendritic arbors, and the dendritic arbor can be re-expanded when reinnervation is allowed. RhoA is a target that regulates the cytoskeleton and promotes neuronal survival and axon regeneration. However, the role of RhoA in dendrite degeneration and regeneration is unknown. In this study, we explored the potential role of RhoA in dendrites. A line of motor neuronal RhoA conditional knockout mice was developed by crossbreeding HB9 mice with RhoA mice. We established two models for assaying dendrite degeneration and regeneration, in which the brachial plexus was transection or crush injured, respectively. We found that at 28 days after brachial plexus transection, the density, complexity, and structural integrity of dendrites in the ventral horn of the spinal cord of RhoA conditional knockout mice were slightly decreased compared with that in Cre mice. Dendrites underwent degeneration at 7 and 14 days after brachial plexus transection and recovered at 28-56 days. The density, complexity, and structural integrity of dendrites in the ventral horn of the spinal cord of RhoA conditional knockout mice recovered compared with results in Cre mice. These findings suggest that RhoA knockout in motor neurons attenuates dendrite degeneration and promotes dendrite regeneration after peripheral nerve injury.
PubMed: 37449641
DOI: 10.4103/1673-5374.373657 -
Frontiers in Aging Neuroscience 2023Motoric cognitive risk syndrome (MCR) is a pre-dementia symptom strongly predicting cognitive decline and dementia. Although advancements in elucidating the epidemiology...
BACKGROUND
Motoric cognitive risk syndrome (MCR) is a pre-dementia symptom strongly predicting cognitive decline and dementia. Although advancements in elucidating the epidemiology of MCR, the evidence about the association between sarcopenia, sarcopenia parameters, and MCR remains scarce.
OBJECTIVES
The purpose of this study was to determine the associations between sarcopenia, sarcopenia parameters, and MCR among community-dwelling Chinese older adults.
METHODS
A total of 4,184 community-dwelling older adults from the China Health and Retirement Longitudinal Study (CHARLS) in the 2011 waves were included. Sarcopenia was diagnosed according to the Asian Working Group for Sarcopenia criteria. Sarcopenia parameters included handgrip strength (HGS), height-adjusted appendicular skeletal muscle mass (ASM/Ht), and five-times sit-to-stand test time (FTSSTT). MCR was defined as subjective cognitive complaints and slow gait speed without dementia or impaired mobility. The associations between sarcopenia, sarcopenia parameters, and MCR were conducted using the logistic regression model. The restricted cubic spline with four knots were performed to determine the nonlinear and linear relationships between HGS, ASM/Ht, FTSSTT, and MCR.
RESULTS
The prevalence of MCR in wave 2011 of CHARLS was 11.2%. After adjustment for potential confounders, we found sarcopenia [odd ratio (OR) (95% CI): 1.70 (1.13 ~ 2.54), = 0.011], lower HGS [0.97 (0.96 ~ 0.99), = 0.001], and more FTSSTT [1.12 (1.10 ~ 1.15), < 0.001] were significantly associated with a higher risk of MCR. There was an inverse linear dose-response between HGS and MCR ( for overall = 0.008, p for nonlinearity =0.776). The nonlinear relationship between FTSSTT and MCR was found ( for overall <0.001, for nonlinearity = 0.025) with FTSSTT ≥29 s being associated with a higher risk of MCR. A dose-response relationship was not found between ASM/Ht and MCR ( for overall =0.589).
CONCLUSION
Sarcopenia, lower HGS, and higher FTSSTT are associated with MCR among older adults in China, while the latter two exhibit a dose-response relationship with MCR. It is suggested that timely identification and management of sarcopenia and its parameters may help delay the progression of cognitive impairment and promote healthy aging.
PubMed: 38076545
DOI: 10.3389/fnagi.2023.1302879 -
Journal of Clinical Medicine Aug 2023Children and adolescents with congenital heart disease (CHD) are at risk for cognitive impairments, such as executive function deficits and motor delays, which can...
BACKGROUND
Children and adolescents with congenital heart disease (CHD) are at risk for cognitive impairments, such as executive function deficits and motor delays, which can impact their academic and adaptive functioning as well as their quality of life. We investigated whether alterations in connectivity between the prefrontal and cerebellar brain structures exist between CHD and control cohorts and if these alterations could predict cognitive or motor impairment among youths with CHD.
METHODS
53 participants with CHD and 73 healthy control participants completed multi-modal magnetic resonance imaging (MRI) of the brain, including high-resolution diffusion tensor imaging at 3T. We measured connectivity from masked regions of interest in the cerebellum to the frontal cortex using a probabilistic tractography method. Participants also completed neuropsychological tests of cognitive and motor skills using the NIH Toolbox.
RESULTS
In the CHD group, fractional anisotropy (FA) was increased in the cognitive loop connectivity pathways, including from the right cerebellum to the left thalamus ( = 0.0002) and from the left thalamus to the left medial frontal gyrus (MFG) ( = 0.0048) compared with the healthy control group. In contrast, there were no differences between CHD and controls in motor loop connectivity pathways. An increase in FA from the right thalamus to the MFG tract in the cognitive loop (posterior subdivision) predicted ( = 0.03) lower scores on the NIHTB tests, including those of executive functioning. A transient increase in connectivity of the cognitive loop in the adolescent group was observed relative to the child and adult groups.
CONCLUSIONS
Our results suggest that selective alteration of cerebellum-cerebral connectivity circuitry within the cognitive loops predicts cognitive dysfunction in CHD youth. Our study suggests a critical period of cerebellar circuitry plasticity in the adolescent period in CHD subjects that drives neurocognitive function. Further replication and validation in other pediatric CHD cohorts is warranted for future work.
PubMed: 37629306
DOI: 10.3390/jcm12165264 -
Diagnostics (Basel, Switzerland) Nov 2023Preterm infants are more likely to demonstrate developmental delays than fullterm infants. Postural measurement tools may be effective in measuring the center of... (Review)
Review
Preterm infants are more likely to demonstrate developmental delays than fullterm infants. Postural measurement tools may be effective in measuring the center of pressure (COP) and asymmetry, as well as predicting future motor impairment. The objective of this systematic review was to evaluate existing evidence regarding use of pressure mats or force plates for measuring COP and asymmetry in preterm infants, to determine how measures differ between preterm and fullterm infants and if these tools appropriately predict future motor impairment. The consulted databases included PubMed, Embase, Scopus, and CINAHL. The quality of the literature and the risk of bias were assessed utilizing the ROB2: revised Cochrane risk-of bias tool. Nine manuscripts met the criteria for review. The postural control tools included were FSA UltraThin seat mat, Conformat Pressure-Sensitive mat, Play and Neuro-Developmental Assessment, and standard force plates. Studies demonstrated that all tools were capable of COP assessment in preterm infants and support the association between the observation of reduced postural complexity prior to the observation of midline head control as an indicator of future motor delay. Postural measurement tools provide quick and objective measures of postural control and asymmetry. Based on the degree of impairment, these tools may provide an alternative to standardized assessments that may be taxing to the preterm infant, inaccessible to therapists, or not sensitive enough to capture motor delays.
PubMed: 37998609
DOI: 10.3390/diagnostics13223473 -
Journal of Orthopaedic Case Reports Dec 2023Ewing's sarcoma in children is an extremely rare malignant tumor that is frequently challenging to identify. In addition to its rarity in young children, Ewing's sarcoma...
INTRODUCTION
Ewing's sarcoma in children is an extremely rare malignant tumor that is frequently challenging to identify. In addition to its rarity in young children, Ewing's sarcoma can resemble an infectious disease, contributing to diagnostic delay. Both conditions have similar presenting symptoms, such as general weakness, pain, and fever.
CASE REPORT
We present a case of a 13-year-old girl with pain over the right distal humerus for 2 months. X-ray findings showed lesions over the distal humerus which led to a differential diagnosis of osteomyelitis and Ewing's sarcoma. The patient underwent bone biopsy and was diagnosed with tuberculous osteomyelitis and was managed conservatively in the form of antituberculosis treatment.
CONCLUSION
For distinguishing Ewing's sarcoma from osteomyelitis, imaging modalities can be unreliable, and these patients require a higher diagnostic yield in the form of a bone biopsy for greater accuracy.
PubMed: 38162368
DOI: 10.13107/jocr.2023.v13.i12.4060