Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.

The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range of neurological and developmental disorders. The c.

Primitive Reflex Activity in Relation to Motor Skills in Healthy Preschool Children.

Psychomotor development in the first year of life is possible due to activity and then integration of primitive (neonatal) reflexes. The presence of active primitive reflexes (APRs) in preschool and school-aged children indicates neuromotor immaturity. Studies show dependencies between the preserved activity of primary reflexes and developmental problems such as learning difficulties (problems with reading, writing, reduced mathematics skills, and dyslexia), difficulties with coordination, and attention deficit.

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the Gene.

protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive loss-of-function pathogenic variants are associated with distal arthrogryposis with impaired proprioception and touch (DAIPT). Here we present three new DAIPT patients.

Primitive Reflex Activity in Relation to the Sensory Profile in Healthy Preschool Children.

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.

A Child's Perception of Their Developmental Difficulties in Relation to Their Adult Assessment. Analysis of the INPP Questionnaire.

This study involved a comparison of the perception of developmental difficulties in a child by the parents, the teacher, and through the child's self-assessment. Based on the Institute for Neuro-Psychological Psychology (INPP) questionnaire according to S. Goddard Blythe, three groups were examined: schoolchildren, parents, and teachers.