Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dyspraxia is an often under-diagnosed problem that describes a difficulty in managing certain motor tasks. It's an impairment of the organisation of movement and also an immaturity in the way the brain processes information. This immaturity results in messages not being properly or fully transmitted. In brief, dyspraxia affects the planning of what to do and how to do it and is associated with problems of perception, language and thought. There are a variety of causes and therapy based on the knowledge of these allow affected individuals to reach their full developmental potential.
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PMID:Dyspraxia series: Part Two. One step forward. 2213 65

Alteration of the KPTN gene, responsible for the coding of kaptin (a protein involved in actin cytoskeletal dynamics), causes a syndrome characterized by macrocephaly, neurodevelopmental delay and epileptic seizures. We report the first Brazilian case of KPTN gene variation, previously described in nine subjects from four interlinked families from an Amish community in Ohio, two Estonian siblings and a 9-year-old boy from Kansas City. We report a case of KPTN-related syndrome in a 5-year-old child which presented macrocephaly, muscular hypotonia, and global development delay. The neurological examination revealed below-expected performance in coordination and balance tests, dyspraxia, and hand-mouth synkinesia. Expressive language was characterized by phono-articulatory imprecision, abundance of phonological processes and morphosyntactic immaturity. Neuropsychological assessment revealed intellectual disability with impairment of verbal and executive functions. Exome sequencing was performed. Analysis revealed a homozygous 2-nucleotide duplication c.597_598dup p.(Ser200Ilefs*55) in the KPTN gene, which is predicted to lead to a translational frameshift and formation of a premature stop codon. The phenotypic profile is similar to the cases described in the other families. Presence of macrocephaly and delayed development indicate the possibility of KPTN gene variation. Genetic testing should be carried out at an early stage in order to reach a timely diagnosis.
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PMID:KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report. 3199 56

The presence of active primitive reflexes (APRs) in healthy preschool children can be an expression of immaturity in the functioning of the nervous system. Their trace presence may not significantly affect the quality of child functioning. They may also undergo spontaneous and complete integration within the stages of child development. However, a higher level of active reflexes and their significant number can disturb sensory-motor development and lead to additional problems in a child's motor activities, social life, and education. The main purpose of this study was to examine the types of sensory disorders noticed by parents of children, if any, that accompany the presence of active primitive reflexes. The study was conducted in a group of 44 preschool children (aged 4-6 years). The sensory profile of children was determined using Child Sensory Profile Cards, and Sally Goddard-Blythe tests were used to measure their primitive reflexes. The coefficient of determination (R-squared) indicated that the level of reflex activity was most strongly associated with sensory disorders such as dyspraxia, sensory-vestibular disorders, and postural disorders, at a level of p < 0.005. The obtained research results show that the examination of non-integrated reflexes might be a screening tool for children of preschool age. Knowledge of the subject of reflexes and their impact on sensory-motor functions may contribute to more accurate diagnoses of the causes of problems and higher effectiveness of possible therapy.
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PMID:Primitive Reflex Activity in Relation to the Sensory Profile in Healthy Preschool Children. 3317 38