From Genotype to Phenotype of Polish Patients with Pitt-Hopkins Syndrome concerning the Quality of Life and Family Functioning.

Background: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder affecting psychomotor, social, and intellectual development, caused by a mutation in the TCF4 gene. The study aims to gather the phenotype and genotype data of PTHS patients from Poland and to assess the quality of life (QoL) and the impact of the disorders on the family. Methods: Eight families with PTHS participated in the study. To obtain data, the following standardized questionnaires were used: Questionnaire on Clinical Problems (QCP), the PedsQL™ Family Impact Module, and the QL-Disability Questionnaire. Additionally, a retrospective analysis of clinical examination, genetic consult, medical history, and genotype of each individual was performed. Results: All of the examined children exhibited a mutation in the TCF4 gene and typical features of PTHS. The most prevalent clinical symptoms in the study group included typical PTHS appearance, intellectual disability (n = 5; as the rest of the patients were too young to be assessed), abnormal speech development (n = 8), reduced pain response (n = 7), constipation (n = 7), drooling (n = 7), cold extremities (n = 7), and disturbances in sensory integration processes (n = 7). The QL-Disability Questionnaire revealed a total QoL score of 67.7/100 for children with PTHS, while the QoL for their families in the PedsQL Family Impact Module was 53.82/100. The highest-rated domain was cognitive functioning (Median (Me) = 67.50; Standard Deviation (SD) = 21.95), while the lowest was daily activities (Me = 25.00; SD = 29.86). Conclusions: The study allowed the collection of data on the phenotype and genotype of children with PTHS living in Poland. Overall, our study showed that the QoL of children with PTHS is impaired.

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.

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.