Database : MEDLINE
Search on : motor and skills and disorders [Words]
References found : 14142 [refine]
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[PMID]: 29423830
[Au] Autor:Waisbren SE; Cuthbertson D; Burgard P; Holbert A; McCarter R; Cederbaum S; Members of the Urea Cycle Disorders Consortium
[Ad] Address:Division of Genetics and Genomics, Boston Children's Hospital and Department of Medicine, Harvard Medical School, 1 Autumn Street #525, Boston, MA, 02115, USA. Susan.waisbren@childrens.harvard.edu.
[Ti] Title:Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
[So] Source:J Inherit Metab Dis;, 2018 Feb 08.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment. The Urea Cycle Disorders Longitudinal Study is a natural history study that collects data from regular clinical follow-up and neuropsychological testing. This report examines links between biochemical markers (ammonia, glutamine, arginine, citrulline) and primary neuropsychological endpoints in three distal disorders, argininosuccinic acid synthetase deficiency (ASD or citrullinemia type I), argininosuccinic acid lyase deficiency (ASA or ALD), and arginase deficiency (ARGD). Laboratory results and test scores from neuropsychological evaluations were assessed in 145 study participants, ages 3 years and older, with ASD (n = 64), ASA (n = 65) and ARGD (n = 16). Mean full scale IQ was below the population mean of 100 ± 15 for all groups: (ASD = 79 ± 24; ASA = 71 ± 21; ARGD = 65 ± 19). The greatest deficits were noted in visual performance and motor skills for all groups. While ammonia levels remain prominent as prognostic biomarkers, other biomarkers may be equally valuable as correlates of neuropsychological functioning. Cumulative exposure to the biomarkers included in the study proved to be highly sensitive indicators of neuropsychological outcomes, even when below the cut-off levels generally considered toxic. Blood levels of biomarkers obtained on the day of neuropsychological evaluations were not correlated with measures of functioning for any disorder in any domain. The importance of cumulative exposure supports early identification and confirms the need for well-controlled management of all biochemical abnormalities (and not just ammonia) that occur in urea cycle disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:Publisher
[do] DOI:10.1007/s10545-017-0132-5

  2 / 14142 MEDLINE  
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[PMID]: 29329670
[Au] Autor:Yu JJ; Burnett AF; Sit CH
[Ad] Address:Department of Sports Science and Physical Education, The Chinese University of Hong Kong, Hong Kong.
[Ti] Title:Motor Skill Interventions in Children With Developmental Coordination Disorder: A Systematic Review and Meta-Analysis.
[So] Source:Arch Phys Med Rehabil;, 2018 Jan 09.
[Is] ISSN:1532-821X
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: To determine the characteristics and effectiveness of motor skill interventions in children with developmental coordination disorder (DCD) and to identify potential moderators of training effects using meta-analysis. DATA SOURCES: A search was conducted in 6 databases (CINAHL Plus, Cochrane Library, Embase, ERIC, PsycINFO, and PubMed) for articles published between 1995 and August 2017 using search items which were grouped into 3 components (motor skill interventions, DCD, and age group of interest). STUDY SELECTION: Studies were included if they recruited children 3 to 17 years of age with DCD, reported performance of motor-related skills as outcomes, were published in peer-reviewed journals, and were written in English. Qualitative synthesis was conducted for all included studies. Quantitative synthesis (meta-analysis) was only conducted for studies using a (quasi) randomized controlled trial design. DATA EXTRACTION: Methodology, participant characteristics, intervention components, outcomes, and statistically significant training effects of each included study were extracted. DATA SYNTHESIS: Sixty-six studies met the inclusion criteria with 18 of the studies eligible for meta-analysis. Motor performance and cognitive, emotional, and other psychological factors were the most common outcomes. Other 3 outcome categories included perceptions and/or satisfaction regarding the children's improvement from significant others, physical fitness, and physical activity and participation. Immediate and moderate training effects were found for motor performance (Hedges g=.63; 95% confidence interval [CI], .31-.94; P<.001) and cognitive, emotional, and other psychological factors (Hedges g=0.65; 95% CI, 0.25-1.04; P=.001). Additionally, dose (minutes in total) and frequency of the intervention were significant moderators of training effect on motor performance. CONCLUSIONS: Motor skill interventions are effective in improving motor competence and performance on cognitive, emotional, and other psychological aspects in children with DCD in the short term. These effects are more robust in interventions using a large training dose and a practicing schedule of high frequency.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  3 / 14142 MEDLINE  
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[PMID]: 29521025
[Au] Autor:Mandarakas MR; Rose KJ; Sanmaneechai O; Menezes MP; Refshauge KM; Burns J
[Ad] Address:The University of Sydney, Sydney, New South Wales, Australia.
[Ti] Title:Functional outcome measures for infantile Charcot-Marie-Tooth disease: A systematic review.
[So] Source:J Peripher Nerv Syst;, 2018 Mar 09.
[Is] ISSN:1529-8027
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A functional outcome measure for infants (aged 0-3 years) with Charcot-Marie-Tooth disease (CMT) is needed for upcoming disease-modifying trials. A systematic review of outcome measures for infants with neuromuscular disorders was completed to determine if validated measures were available for the CMT infant population. We assessed 20,375 papers and identified seven functional outcome measures for infants with neuromuscular disorders. Six were developed and validated for Spinal Muscular Atrophy (SMA). There were no CMT-specific outcome measures identified, however one (Motor Function Measure) assessed a range of neuromuscular disorders including 13 infants and children with CMT. The included studies exhibited 'good' face, discriminant, convergent and concurrent validity and reported excellent intra- and inter-rater reliability. No outcome measure was subjected to Item Response Theory. Studies reported outcome measures comprising of 51 different items assessing six domains of function: reflexive movement, axial movement, limb movement, positioning, gross motor and fine-motor skills. Scoring of items ranged from 2-7 - point rating scales; none were scaled to normative reference values to account for changes in growth and development. The SMA-focus of most items is likely to produce ceiling effects and lack sensitivity and responsiveness for within and between types of CMT in infants. Nevertheless, several items across scales assessing distal strength, gross- and fine-motor function, could be included in the development of a composite functional outcome measure for infants with CMT to assess disease-modifying interventions.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1111/jns.12258

  4 / 14142 MEDLINE  
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[PMID]: 29520737
[Au] Autor:Lau AA; Tamang SJ; Hemsley KM
[Ad] Address:Childhood Dementia Research Group, Hopwood Centre for Neurobiology, Nutrition and Metabolism Theme, South Australian Health and Medical Research Institute (SAHMRI), PO Box 11060, Adelaide, South Australia, 5001, Australia. adeline.lau@sahmri.com.
[Ti] Title:MPS-IIIA mice acquire autistic behaviours with age.
[So] Source:J Inherit Metab Dis;, 2018 Mar 08.
[Is] ISSN:1573-2665
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Mucopolysaccharidosis (MPS) type IIIA is an inherited, neurodegenerative lysosomal storage disorder resulting from mutations in the SGSH gene. Consequently, N-sulphoglucosamine sulphohydrolase enzyme activity is reduced resulting in impaired catabolism of heparan sulphate. After an asymptomatic period, patients typically show a progressive loss of cognitive and motor skills, with death often during the second decade of life. The diagnostic criteria of autism spectrum disorders (ASD) include impaired communication and social interactions, as well as displays of repetitive behaviours and fixed interests. Children with MPS-IIIA have been shown to exhibit decreased social communicative behaviours from approximately 3-4 years of age but behavioural stereotypies are mostly absent. In this study, we investigated whether a mouse model of MPS-IIIA exhibited ASD-like symptoms. The BTBR T Itpr3 /J inbred mouse model of autism was used as a positive control. Male MPS-IIIA and BTBR mice were less sociable compared with unaffected C57BL/6 male mice in the reciprocal social approach test administered at 20 weeks of age. Alternations in the frequency of social interactions was not evident at earlier stages of the disease course, suggesting an acquisition of ASD-like social behaviours. Stereotypical behaviours were not evident in male MPS-IIIA mice in the marble-burying test nor was the quality of nest constructed by mice affected. Collectively, these data suggest that MPS-IIIA mice acquire autistic social behaviours similar to the human condition, and thus they may be useful for elucidating symptom generating mechanisms and novel treatments for ASD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.1007/s10545-018-0160-9

  5 / 14142 MEDLINE  
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[PMID]: 29516448
[Au] Autor:Ruggieri VL; Arberas CL
[Ad] Address:Hospital Nacional de Pediatria - Prof. Dr. J.P. Garrahan, Buenos Aires, Argentina.
[Ti] Title:Regresion autista: aspectos clinicos y etiologicos. [Autistic regression: clinical and aetiological aspects].
[So] Source:Rev Neurol;66(S01):S17-S23, 2018 Mar 01.
[Is] ISSN:1576-6578
[Cp] Country of publication:Spain
[La] Language:spa
[Ab] Abstract:INTRODUCTION: Autism spectrum disorders are neurodevelopmental dysfunctions that are characterised by deficits in social integration and communication, associated with restricted interests and stereotypic behaviour. A high percentage are related to language disorders, sensory dysfunctions, attention deficit disorder, bipolarity, intellectual disability or epilepsy, among other comorbidities. It is estimated that around 30% of children with autism, with typical early development, may present regression in the first years of life, which was already reported by Kanner in one of his original cases. The term regression refers to the loss of social, communicative or motor skills. It is essential to be alert to any symptoms of autistic regression, since it is not always an unspecific usual manifestation of the clinical spectrum of autism. Although little is known about the pathogenesis of regression, it needs to be organised hierarchically, as it can be part of different conditions with a variety of causes. AIMS: The aim of this study is to analyse distinct conditions that need to be addressed in the case of a child with autistic regression, including genetic and toxic causations, autoimmune and nutritional phenomena, and epilepsies. CONCLUSION: When faced with a case of autistic regression it is essential to try to identify the possible aetiology, as this can allow specific treatment and adequate genetic counselling to be established.
[Pt] Publication type:CLINICAL CONFERENCE; ENGLISH ABSTRACT
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review

  6 / 14142 MEDLINE  
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[PMID]: 29351642
[Au] Autor:Gorgon EJR
[Ad] Address:Department of Physical Therapy, College of Allied Medical Professions, University of the Philippines Manila, Pedro Gil Street, Malate, Manila, 1004, Philippines.
[Ti] Title:Caregiver-Provided Physical Therapy Home Programs for Children with Motor Delay: A Scoping Review.
[So] Source:Phys Ther;, 2018 Jan 17.
[Is] ISSN:1538-6724
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Background: Caregiver-provided physical therapy home programs (PTHP) play an important role in enhancing motor outcomes in pediatric patient populations. Purpose: This scoping review systematically mapped clinical trials of caregiver-provided PTHP that were aimed at enhancing motor outcomes in children who have or who are at risk for motor delay, with the purpose of (1) describing trial characteristics; (2) assessing methodologic quality, and (3) examining the reporting of caregiver-related components. Data Sources: Physiotherapy Evidence Database (PEDro), Cochrane CENTRAL, PubMed, Scopus, ScienceDirect, ProQuest Central, CINAHL, LILACS, and OTseeker were searched up to July 31, 2017. Study Selection: Two reviewers independently assessed study eligibility. Randomized or quasi-randomized controlled trials on PTHP administered by parents, other family members, friends, or informal caregivers to children who had or who were at risk for motor delay were included. Data Extraction: Two reviewers independently appraised trial quality on the PEDro scale and extracted data. Data Synthesis: Twenty-four articles representing 17 individual trials were identified. Populations and interventions investigated were heterogeneous. Most of the trials had important research design limitations and methodological issues that could limit usefulness in ascertaining the effectiveness of caregiver-provided PTHP. Few (4 of 17) trials indicated involvement of caregivers in the PTHP planning, assessed how the caregivers learned from the training or instructions provided, or carried out both. Limitations: Included studies were heterogeneous, and unpublished data were excluded. Conclusions: Although caregiver-provided PTHP are important in addressing motor outcomes in this population, there is a lack of evidence at the level of clinical trials to guide practice. More research is urgently needed to determine the effectiveness of caregiver-provided PTHP. Future studies should address the many important issues identified in this scoping review to improve the usefulness of the trial results.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/ptj/pzy009

  7 / 14142 MEDLINE  
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[PMID]: 29333806
[Au] Autor:Romero Otalvaro AM; Grañana N; Gaeto N; Torres MLÁ; Zamblera MN; Vasconez MA; Misenta C; Rouvier ME; Squires J
[Ad] Address:Servicio de Pediatría, Departamento Materno Infantil, Hospital Carlos Durand, Ciudad de Buenos Aires.
[Ti] Title:ASQ-3: validación del Cuestionario de Edades y Etapas para la detección de trastornos del neurodesarrollo en niños argentinos. ASQ-3: Validation of the Ages and Stages Questionnaire for the detection of neurodevelopmental disorders in Argentine children.
[So] Source:Arch Argent Pediatr;116(1):7-13, 2018 Feb 01.
[Is] ISSN:1668-3501
[Cp] Country of publication:Argentina
[La] Language:eng; spa
[Ab] Abstract:INTRODUCTION: The systematic assessment of child development in the first years of life is an essential component of pediatric health checkups. The Ages and Stages Questionnaire, third edition (ASQ-3) is the most validated scale, and has been recommended by the UNICEF to verify if children have a normal neurological development. It is a monitoring instrument to assess the main developmental areas, including communication, gross motor, fine motor, personal-social, and problem solving skills, and to compare the local population to the international development standards. OBJECTIVE: To validate the ASQ-3 in a pediatric population group. METHODS: Children aged 1-66 months were assessed at a public hospital by pediatricians, psychologists, and educational psychologists. The SSPS software package was used to determine population scales. RESULTS: In 630 children, who had a homogeneous sex distribution, an 88% sensibility and a 94% specificity were determined, with a positive predictive value of 88% and a negative predictive value of 96%, compared to the National Screening Test (Prueba Nacional de Pesquisa, PRUNAPE) and the cut-off scores for each age group. CONCLUSION: The ASQ-3 established that 19.5% of children were at risk of experiencing neurodevelopmental disorders. The ASQ-3 met psychometric properties compared to the PRUNAPE, which is the gold standard for the targeted and systematic assessment of developmental milestones during health checkups in a rapid, simple and cost-effective manner, so it was considered useful to monitor child neurological development.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.5546/aap.2018.eng.7

  8 / 14142 MEDLINE  
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[PMID]: 29506060
[Au] Autor:Page J; Lustenberger C; Fr Hlich F
[Ad] Address:Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill NC, USA.
[Ti] Title:Social, Motor, and Cognitive Development Through the Lens of Sleep Network Dynamics in Infants and Toddlers Between 12 and 30 Months of Age.
[So] Source:Sleep;, 2018 Feb 02.
[Is] ISSN:1550-9109
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Widespread change in behavior and the underlying brain network substrate is a hallmark of early development. Sleep plays a fundamental role in this process. Both slow waves and spindles are key features of non-rapid eye movement sleep (NREM) that exhibit pronounced developmental trajectories from infancy to adulthood. Yet, these prominent features of NREM sleep are poorly understood in infants and toddlers in the age range of 12 to 30 months. Moreover, it is unknown how network dynamics of NREM sleep are associated with outcomes of early development. Addressing this gap in our understanding of sleep during development will enable the subsequent study of pathological changes in neurodevelopmental disorders. The aim of the current study was to characterize the sleep topography with high-density electroencephalography (EEG) in this age group. We found that delta, theta, and beta oscillations and sleep spindles exhibited clear developmental changes. Low delta and high theta oscillations correlated with motor, language, and social skills, independent of age. These findings suggest an important role of network dynamics of NREM sleep in cortical maturation and the associated development of skills during this important developmental period.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:Publisher
[do] DOI:10.1093/sleep/zsy024

  9 / 14142 MEDLINE  
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[PMID]: 29504779
[Au] Autor:Kabuba N; Menon JA; Franklin DR; Lydersen S; Heaton RK; Hestad KA
[Ad] Address:Department of Psychology, University of Zambia.
[Ti] Title:Effect of age and level of education on neurocognitive impairment in HIV positive Zambian adults.
[So] Source:Neuropsychology;, 2018 Mar 05.
[Is] ISSN:1931-1559
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: Older age and lower education levels are known to be associated with worse neurocognitive (NC) performance in healthy adults, and individuals with HIV infection may experience accelerated brain/cognition aging. However, higher education may possibly protect against HIV-associated neurocognitive disorders (HAND). The aim of the current cross-sectional study was to assess the effect of age and education in an HIV-1 clade C infected adult population in urban Zambia. METHOD: Demographically corrected Zambian norms on a neuropsychological (NP) test battery were used to correct for normal age and education effects. The study assessed 286 HIV positive (+) males (37.1%) and females (62.9%) with a mean age of 41.35 (SD = 8.56) and mean years of education = 10.16 (SD = 2.18). A comprehensive NP test battery was used to assess cognitive domains frequently affected by HIV: attention/working memory, learning/and delayed recall, executive function, verbal fluency, processing speed, verbal and visual episodic memory, and fine motor skills. RESULTS: In younger HIV+ Zambians, higher education evidenced protective effects against NC impairments overall, and for the specific domains of executive functions, learning and speed of information processing. Impairment scores did not support accelerated overall brain aging although the restricted age range and relative youth of our total sample may have precluded detection of such tendencies. CONCLUSIONS: The present study raises the need to investigate factors that could be implicated in the poor neurocognitive performance among the younger, less educated HIV+ individuals in Zambia. (PsycINFO Database Record
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:Publisher
[do] DOI:10.1037/neu0000438

  10 / 14142 MEDLINE  
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[PMID]: 29493557
[Au] Autor:Wilson RB; Enticott PG; Rinehart NJ
[Ad] Address:UCLA Semel Institute of Neuroscience and Human Behavior, David Geffen School of Medicine, UCLA Division of Pediatric Neurology, Los Angeles, California, USA.
[Ti] Title:Motor development and delay: advances in assessment of motor skills in autism spectrum disorders.
[So] Source:Curr Opin Neurol;31(2):134-139, 2018 Apr.
[Is] ISSN:1473-6551
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: Motor impairments in neurodevelopmental disorders, specifically autism spectrum disorder (ASD), are prevalent and pervasive. Moreover, motor impairments may be the first sign of atypical development in ASD and likely contribute to abnormalities in social communication. However, measurement of motor function in ASD has lagged behind other behavioral phenotyping. Quantitative and neurodiagnostic measures of motor function can help identify specific motor impairments in ASD and the underlying neural mechanisms that might be implicated. These findings can serve as markers of early diagnosis, clinical stratification, and treatment targets. RECENT FINDINGS: Here, we briefly review recent studies on the importance of motor function to other developmental domains in ASD. We then highlight studies that have applied quantitative and neurodiagnostic measures to better measure motor impairments in ASD and the neural mechanisms that may contribute to these abnormalities. SUMMARY: Information from advanced quantitative and neurodiagnostic methods of motor function contribute to a better understanding of the specific and subtle motor impairments in ASD, and the relationship of motor function to language and social development. Greater utilization of these methods can assist with early diagnosis and development of targeted interventions. However, there remains a need to utilize these approaches in children with neurodevelopmental disorders across a developmental trajectory and with varying levels of cognitive function.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review
[do] DOI:10.1097/WCO.0000000000000541


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