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.

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.

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.

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.

Background: SPATA5L1-related neurodevelopmental disorder is a recently described condition characterized by psychomotor delay, sensorineural hearing loss, and variable motor dysfunction. Because only a few cases have been reported, the full phenotypic spectrum remains poorly defined. Expanding clinical characterization is crucial for improving early diagnosis and targeted management. Case Presentation: We report a 24-month-old female with compound heterozygous SPATA5L1 variants c.1918C>T (p.Arg640Ter) and c.2066G>T (p.Gly689Val). She presented with global psychomotor delay, bilateral sensorineural hearing loss, strabismus, and craniofacial dysmorphism. Brain MRI showed cortical and white matter atrophy, delayed myelination, and a thin corpus callosum. Vojta neurodevelopmental assessment demonstrated an 11-month motor delay, abnormal responses in all seven Vojta postural reactions, and persistent primitive reflexes. Early EEG recordings were without significant changes, whereas abnormalities emerged later in the clinical course. Genetic testing confirmed the variants in trans. Management and Outcomes: Early rehabilitation including reflex locomotion therapy was initiated. The persistence of primitive reflexes, central hypotonia, and pathological postural reactions provided a coherent neuromotor profile and indicated a high vulnerability to atypical motor development, and do not rule out the possibility of later evolution toward a spastic–dystonic motor pattern. These findings, combined with neuroimaging abnormalities, refined the patient’s neuromotor phenotype and guided individualized therapeutic planning. Conclusions: This case expands the clinical and neurodevelopmental spectrum associated with SPATA5L1 variants and highlights the diagnostic value of integrating genomic sequencing with structured motor assessments. Early, multidimensional evaluation may improve recognition of rare neurodevelopmental disorders and support more precise prognostication and rehabilitation strategies.

Background: Biallelic variants in SHQ1 (SHQ1 homolog; H/ACA small nucleolar ribonucleoprotein assembly factor) cause neurodevelopmental disorder with dystonia and seizures (NEDDS), but descriptions of spontaneous motor organization, functional communication, and rehabilitation-relevant abilities remain limited. Case: We present a boy with infantile-onset epileptic encephalopathy, dystonia, cerebellar atrophy, and asymmetric spasticity in whom trio WES identified two heterozygous SHQ1 variants in trans: the maternally inherited c.5T>C (p.Leu2Pro) variant and the paternally inherited c.828_831del (p.Asp277SerfsTer27) variant. Both SHQ1 variants remain classified as variants of uncertain significance (VUS) under ACMG criteria. Based on the available genetic evidence, including segregation in trans, and the close phenotypic concordance, SHQ1-related NEDDS is considered the most likely clinical diagnosis; however, the molecular findings do not independently establish the diagnosis. At 5 years and 4 months, assessment combined neurological and physiotherapeutic examination, Vojta-derived Locomotion Stages, and an adapted, descriptive item-level Bayley-4 assessment conducted outside the normative age range. The child independently expressed LS 3 creeping, brief ineffective homologous lower-limb attempts, supported kneeling with goal-directed upward reaching, and intentional tablet-based augmentative and alternative communication despite severe expressive and motor limitations. Observed task performance during the adapted Bayley-4 assessment was heterogeneous and was interpreted solely descriptively because chronological age exceeded the normative range and administration required accommodations. After adjunctive cannabidiol was introduced, prolonged nocturnal tonic seizures requiring rescue medication became less frequent and subsequently ceased, whereas focal seizures persisted during wakefulness and overall daily seizure frequency did not show a comparable reduction. Because this was a single, unblinded observation with concomitant antiseizure-medication changes and no prospectively predefined, directly comparable observation windows, no quantitative or causal treatment effect can be inferred. The available rehabilitation exposure was reconstructed retrospectively from parental report; detailed treatment progression and standardized longitudinal outcomes were not recorded prospectively. Conclusions: The present case broadens the functional phenotype of SHQ1-related NEDDS and shows that standardized developmental testing alone may underestimate communicative intentionality and functionally expressed abilities when motor output is severely constrained. Integrated functional assessment can refine phenotyping and identify individualized rehabilitation and assistive mobility targets. The assessment-informed physiotherapy framework is clinical and hypothesis-generating; it was not prospectively evaluated and should not be interpreted as evidence of treatment efficacy.