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.2509G>A variant specifically leads to a substitution at position 837 in the protein, which is likely critical for its normal function. This study presents a male pediatric patient with a pathogenic TRPM3 variant c.2509G>A [p.(Val837Met)], contributing to a complex clinical phenotype characterized by developmental delays, significant hypotonia, and neurological abnormalities. The patient demonstrated delayed motor milestones, including the inability to sit independently until 20 months, and abnormal EEG findings without epileptic seizures. Ophthalmologic issues, such as hyperopia and astigmatism, were also identified. Behavioral abnormalities and cognitive impairment aligned with previous reports of TRPM3-related neurodevelopmental disorders. This case highlights the phenotypic variability linked to the p.(Val837Met) variant and emphasizes the need for further research into effective therapeutic strategies for TRPM3-associated conditions.

The COVID-19 pandemic resulted in an almost immediate need to limit social contact, including access to full-time education. Teaching in the 2020/2021 academic year relied almost entirely on remote education. Medical students felt the problem of the lack of student-patient contact in particular. Internships and apprenticeships were kept to a minimum, and in many universities there were no apprenticeships, which also translated into the lack of acquisition of practical knowledge, which is very important in the work of a future medic. The study covered students from all voivodeships. The nationwide character of the study made it possible to obtain objective results. The objective of the study was to examine the level of satisfaction and acquired skills of students of the medical faculty, i.e. physiotherapy within remote education. The results of the study and the literature review show that the preferred form of education in medical faculties is a mixed form of education, and student satisfaction with the remote form is rather low. It has been shown that this method of education does not lower the level of satisfaction, and at the same time has a positive effect on the economic aspect of studying.

Introduction The research was conducted to measure the views held by students towards euthanasia. Methods The opinions were recorded by using a survey with 12 statements and 5-grade Likert scale responses. The research involved 376 students: 168 students of physiotherapy and 103 students of...

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.