Clinical Characteristics and Neurologic Outcomes of X-Linked Myotubular Myopathy [PDF]
Annals of Child Neurology, 2022 Purpose X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired ...
Hyewon Woo +10 more
doaj +1 more source
Developmental screening in South Africa : comparing the national developmental checklist to a standardized tool [PDF]
, 2015 Background: Worldwide, more than 200 million children in low- and middle-income countries have developmental delays and/or disabilities. In South Africa the only nationally implemented developmental 'screening' tool is integrated as part of 'The Road to ...
Glascoe, Frances Page +4 more
core +3 more sources
Influence of supine sleep positioning on early motor milestone acquisition [PDF]
Developmental Medicine & Child Neurology, 2005 This study aimed to determine whether supine sleep‐positioned infants have delayed motor skills at age 4 and 6 months, and if delays are associated with decreased exposure to prone position. One 4 and one 6‐month‐old sample of healthy infants born at term were recruited.
Annette, Majnemer, Ronald G, Barr
openaire +3 more sources
Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?
Brain Sciences, 2021 Down Syndrome (DS) is the most common genetic alteration responsible for intellectual disability, which refers to deficits in both intellectual and adaptive functioning.
Chiara Locatelli +21 more
doaj +1 more source
Early detection of communication delays with the PEDS tools in at-risk South African infants [PDF]
, 2016 Background: Prevalence of communication delays or disorders is increasing, possibly because of various environmental risk factors. Selection and implementation of effective screening tools are important to detect at-risk infants as early as possible ...
Glascoe, Frances Page +6 more
core +3 more sources
Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome. [PDF]
, 2020 Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired communication, motor deficits and ataxia, intellectual disabilities, microcephaly, and seizures. The genetic cause of AS is the loss of expression
Adhikari, A +27 more
core +2 more sources
Integration of Action and Language Knowledge: A Roadmap for Developmental Robotics [PDF]
, 2010 “This material is presented to ensure timely dissemination of scholarly and technical work. Copyright and all rights therein are retained by authors or by other copyright holders.
Belpaeme, T. +16 more
core +2 more sources
Children with specific language impairment are more likely to reach motor milestones late
Child: Care, Health and Development, 2018 BACKGROUND Delayed language development without an obvious cause is considered an isolated developmental disorder and is called specific language impairment (SLI).
F. Diepeveen +3 more
semanticscholar +1 more source
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
Misdiagnosis of Central Motor Dysfunction in a Child with Craniovertebral Junction Anomaly-A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2018 Congenital anomalies of the Craniovertebral Junction (CVJ), though clinically significant, have often been misdiagnosed especially in the paediatric age group.
Kriti Mishra, Judy A David
doaj +1 more source