Jaberi-Elahi syndrome is an extremely rare genetic disease caused by pathogenic variants in GTPBP2. The core symptoms of this disease are intellectual disability, motor development delay, abnormal ...reflexes, skeletal abnormalities, and visual impairment. In this study, we describe a three-year-old girl with a novel homozygous variant in GTPBP2 and a phenotype overlapping with Jaberi-Elahi syndrome. This variant (NM_019096.5:c.1289T > C, p.Leu430Pro) was identified by Whole Exome Sequencing and confirmed by Sanger sequencing although remains classified as VUS based on ACMG criteria. The proband demonstrated motor and intellectual developmental delay, muscle weakness, language disorder, facial dysmorphism, and poor growth. Hitherto, twenty-seven individuals with Jaberi-Elahi syndrome have been reported in the literature. This study, describes a review of the symptoms related to the Jaberi-Elahi syndrome. A large numbers of patients manifest motor development delay (26/28), sparse hair (26/28), and speech disorder (24/28). Moreover, a significant fraction of patients suffer from intellectual disability (23/28), hypotonia (23/28), skeletal problems (23/28), and visual impairment (18/28). In spite of previous patients, the proband in this study did not exhibit any skeletal abnormalities. In summary, we present evidence implicating a novel missense variant in Jaberi-Elahi syndrome, expanding and refining the genetic spectrum of this condition.
Anemia and iron deficiency can cause detrimental effects on brain development, and continued iron deficiency anemia is known to interfere with development which results in a permanent delay in mental ...and Motor development. This study investigated the impact of anemia on physical development skills of under two years children in aceh besar district. A cross-sectional study design was applied to 102 under-two years children selected using cluster random sampling technique using village as cluster. A structured questionnaire to determine general characteristics such as maternal age, maternal education, maternal occupational, family income, number of family members and toddlers. Anemia status was assessed by Hemocue 201+ tool, and physical motor development such as gross and fine motor development skills were determined using Denver II instrument. Almost two- thirds of children were anemia, as assessed by blood hemoglobin levels of <11 g/dL, while 34.3% of them were experienced delay in either fine development or gross development skills. The prevalence of children with fine and gross motor development delay was higher in children with suffering from anemia (27.1% and 17.1%) than non-anemia, respectively (3.2% and 9.4%). There was significant association anemia status on fine motor development (r=0.291; p=0.003), while not significant to gross motor development (r=0.092; p=0.357). The prevalence of anemia in children 12–24 mo old was very high, and has an impact on motor development delays, so anemia prevention programs and motor stimulation intervention for under two years children are needed.
Abstract Background Evidence linking maternal depressive symptoms with infant’s growth and development in low-income countries is inadequate and conflicting. This study investigated the independent ...effect of maternal perinatal depressive symptoms on infant’s growth and motor development in rural Bangladesh. Methods A cohort of 720 pregnant women was followed from the third trimester of pregnancy to 6–8 months postpartum. For growth and developmental outcomes, 652 infants at 2–3 months and 6–8 months were assessed. Explanatory variables comprised maternal depressive symptoms, socioeconomic status, and infant’s health and temperament. Outcome measures included infant’s underweight, stunting and motor development. Multiple linear regression analyses identified predictors of infant growth and development. Results Maternal postpartum depressive symptoms independently predicted infant’s underweight and impaired motor development, and antepartum depressive symptoms predicted infant’s stunting. Infant’s unadaptable temperament was inversely associated with infant’s weight-for-age and motor development, and fussy and unpredictable temperament with height-for-age and motor development. Limitations Repeated measures design might threaten the internal validity of the results 8.3% of the participant does not participate in the measurements at different times. As the study was conducted in two sub-districts of rural Bangladesh, it does not represent the urban scenario and cannot be generalized even for other rural areas of the country. Conclusion This study provides evidence that maternal ante- and postpartum depressive symptoms predict infant’s growth and motor development in rural Bangladesh. It is recommended to integrate psychosocial components in maternal and child health interventions in order to counsel mothers with depressive symptoms.
Motor development and psychological development are fundamentally related, but researchers typically consider them separately. In this review, we present four key features of infant motor development ...and show that motor skill acquisition both requires and reflects basic psychological functions. (
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) Motor development is embodied: Opportunities for action depend on the current status of the body. (
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) Motor development is embedded: Variations in the environment create and constrain possibilities for action. (
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) Motor development is enculturated: Social and cultural influences shape motor behaviors. (
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) Motor development is enabling: New motor skills create new opportunities for exploration and learning that instigate cascades of development across diverse psychological domains. For each of these key features, we show that changes in infants' bodies, environments, and experiences entail behavioral flexibility and are thus essential to psychology. Moreover, we suggest that motor development is an ideal model system for the study of psychological development.
Abstract The ability to predict upcoming events is essential in infancy because it enables babies to process information optimally and have successful goal‐directed interactions with their ...environment. In this article, we examine how infants generate predictions in perception, cognition, and action, and address whether and how their predictions are motivated and affected by their motor development. Our synthesis of research demonstrates that infants form predictions in the perception, cognition, and action domains based on perceived statistical information, pre‐existing and newly generated knowledge, and internal motor models. Our analysis reveals that infants' increasing fine and gross motor experiences have a moderating impact on the elaboration of the different bases for predictions. Based on this, we conclude that new motor experiences enable infants to constantly improve the bases from which they generate and update their predictions.
Duncan, MJ, Eyre, ELJ, and Oxford, SW. The effects of 10-week integrated neuromuscular training on fundamental movement skills and physical self-efficacy in 6-7-year-old children. J Strength Cond Res ...32(12): 3348-3356, 2018-Integrated neuromuscular training (INT) has been suggested as an effective means to enhance athletic potential in children. However, few studies have reported the effects of school-based INT programs. This study examined the effect of INT on process and product fundamental movement skill measures and physical self-efficacy in 6-7-year-old children. Ninety-four children from 2 primary schools were randomized into either a 10-week INT program or a control group (CON) (n = 41). Results indicated significantly greater increases in process fundamental movement skill (FMS) scores in INT vs. CON (p = 0.001). For product measures of FMS, 10-m sprint time, counter movement jump, seated medicine ball throw and standing long jump (all p = 0.001), all significantly increased to a greater extent in the INT group vs. CON. A significant group (INT vs. CON) × time (pre vs. post) × gender interaction for physical self-efficacy revealed increased physical self-efficacy pre to post INT, compared with CON but only for boys (p = 0.001). For girls, physical self-efficacy was not significantly different before to after the 10-week period for INT and CON groups. The results of this study suggest that replacing 1 of the 2 weekly statutory physical education (PE) lessons with an INT program over a 10-week period results in positive improvements in fundamental movement skill quality and outcomes in 6-7-year-old children. Integrated neuromuscular training also appears to increase physical self-esteem to a greater extent than statutory PE but only in boys.
New motor skills can shape how infants communicate with their caregivers. For example, learning to walk allows infants to move faster and farther than they previously could, in turn allowing them to ...approach their caregivers more frequently to gesture or vocalize. Does the link between walking and communication differ for infants later diagnosed with autism spectrum disorder (ASD), whose communicative and motor development differs from their neurotypically developing peers? We prospectively followed two groups of infants longitudinally during the transition from crawling to walking: (1) N = 25 infants with no family history of ASD; and (2) N = 91 infants with an older sibling with ASD. Fifteen infants were later diagnosed with ASD, and 26 infants showed a language delay (but did not receive an ASD diagnosis). After learning to walk, infants without ASD or language delay showed considerable changes in their communication: They gestured more frequently, and increasingly coordinated their gestures and vocalizations with locomotion (e.g., by approaching a caregiver and showing a toy). Infants with language delay showed similar but attenuated growth in their communication. However, infants later diagnosed with ASD did not display enhanced communication after they began to walk.
Exercise training is widely promoted as a method to enhance both physical health and cognitive function. Although routine exercise engenders physiological adaptations to the body and brain, its ...effects on mental processing are uncertain. Our review of the experimental evidence reveals that acknowledging the role of skill acquisition may help clarify the exercise-cognition relation. Instructional methods that optimize physical and mental challenge provide the conditions necessary to produce long-term changes in the way individuals process information, make decisions, select movements, and experience the consequences of actions. Main conclusions drawn by intersecting theory-based research on the linkages between chronic exercise and cognitive function and research on the associations of both sport and performance arts with cognitive function are as follows: (1) Exercise may be but one of many types of movement activities that can benefit cognition; (2) the process of skill acquisition provides a parsimonious explanation for outcomes across exercise, sport, and performing art studies; (3) the allocation of mental resources required during skill acquisition, independently from or interactively with the level of physical energy expenditure, is essential for reaping the largest cognitive benefits; and (4) cognitive benefits obtained via skill-acquisition interventions are enduring. This review also highlights issues that call for future research to provide convergent evidence for the relation between skill training and cognition; the inclusion of outcome measures other than executive functions; and a naturalistic translational approach to complement controlled experiments in chronic exercise and cognition and skill learning research.
Public Significance Statement
Physical activities that are mentally engaging and include an element of skill learning may enhance peoples' cognitive functions beyond gains achieved from exercise programs designed to promote physical and brain health. Regardless of exercise mode, instructional methods that properly challenge learners' thoughts and actions enrich and maintain cognition. These findings apply across the life span.
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