FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.

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. The primary purpose of this study is to present the activity of three tonic reflexes in a sample of 112 Polish children aged 4-6 in relation to their motor skills. The children were examined for the presence of the asymmetric tonic neck reflex (ATNR), symmetric tonic neck reflex (STNR), and tonic labyrinthine reflex (TLR). Motor performance was examined with the MOT 4-6. Statistical analysis shows an inverse correlation between the score in the test of reflexes and motor efficiency (MOT 4-6) at p < 0.05 (-0.33). Children with increased reflex activity presented a lower level of motor efficiency. The multiple regression model showed that with the older age of the child and the decrease in the level of reflex activity, the motor skills of children improve. Thus, there is a need for early screening of primitive reflexes in children. Properly selected exercises and therapeutic activities aimed at integrating APRs in children with developmental difficulties can improve their motor skills, perceptual abilities, and emotional behavior.

Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene.

PIEZO2 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 PIEZO2 loss-of-function pathogenic variants are associated with distal arthrogryposis with impaired proprioception and touch (DAIPT). Here we present three new DAIPT patients. The genetic diagnosis was established by exome sequencing and let us to identify 6 novel loss-of-function PIEZO2 variants: four splicing (c.1080+1G>A, c.4092+1G>T, c.6355+1G>T, and c.7613+1G>A), one nonsense (c.6088C>T) and one frameshift variant (c.6175_6191del) for which mosaic variant was identified in proband's mother. All patients presented typical symptoms at birth, with congenital contractures, bilateral hip dislocation/dysplasia, generalized hypotonia, transient feeding and difficulties. Two were afflicted by transient respiratory insufficiency. In all children motor development was severely delayed. In one patient, severe cognitive delay was also observed. Moreover, among the cases described by us there is the youngest diagnosed child to date.

The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.

Psychomotor delay, hypotonia, and intellectual disability, as well as heart defects, urogenital malformations, and characteristic cranio-facial dysmorphism are the main symptoms of dysmorphic syndrome associated with intergenic deletion in the Xq24 chromosome region including the UBE2A and CXorf56 genes. To date, there is limited information in the literature about the symptoms and clinical course of the Xq24 deletion. Here, we present a case of Xq24 deletion including the UBE2A and CXorf56 genes in a nine-year-old boy, in whom the array comparative genomic hybridization (array-CGH) and whole exome sequencing (WES) tests were performed in 2015 with normal results. The WES results were reanalyzed in 2019. Intergenic, hemizygous deletion in the Xq24 chromosome region including the UBE2A and CXorf56 genes was revealed and subsequently confirmed in the array-CGH study as the deletion of 35kb in the Xq24 region. Additionally, the carriership of deletion in the mother of the child was confirmed.

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. 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.

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. Each of them answered a set of 21 questions and assessed the degree of occurrence of a given difficulty for the child on a scale from 0 to 4. The questions concerned psychomotor problems related to balance, motor coordination and concentration, as well as school skills. In total, 49 questionnaires from children and parents and 46 from teachers were used for the study. The mean answer to each question was calculated within the following groups: child-parent, child-teacher, and parent-teacher. The sum of the children's answer points was significantly higher than the sum of the parents' answer points (p = 0.037). Children assessed their developmental difficulties more strongly than teachers, but this difference was not statistically significant. The individual difficulties of the children were assessed significantly more seriously or more gently than by the National Scientific Conference "Human health problems-causes, present state, ways for the future" speeches by 44 teacher participants on 5 June 2020. Parents and teachers also assessed the children's difficulties significantly differently (p = 0.044). The biggest difference in answers concerned the question of maintaining attention. The obtained results indicate a significant difference in the perception of difficulties occurring in the same child by the teacher and the parent. The child's behavior in school and home environments may be different and, depending on the requirements, assessed differently. Children perceive their difficulties much more seriously than adults. Talking and the support of adults can make it easier for a child to overcome developmental difficulties.