Turner syndrome is a genetic disorder that affects only females. It has specific cognitive characteristics, but speech and language data are scarce.Prospective case report; we report a girl aged se...

Arterial presumed perinatal ischemic stroke is a type of perinatal stroke that emerges due to late or delayed diagnostics of perinatal or neonatal arterial ischemic stroke. It is usually recognized before one year of life due to hemiparesis. This injury may lead to cognitive, behavioral, or motor symptoms, and life-long neurodevelopmental disabilities. In this case report, we describe a five-year-old girl with a history of arterial presumed perinatal ischemic stroke in the left hemisphere, which adversely affected her cognitive and language outcomes. The girl’s cognitive development has been uneven, ranging from below average to average, and she had specific language acquisition deficits in comprehension, vocabulary, morphology, use of complex syntax, and narrative structure. The obtained results point to the specificity of each child whose development is influenced not only by the timing of the brain lesion and the degree of damage, but also by the child’s neurobiological capacity. In addition, we provide an updated review of the literature that includes information on epidemiology, risk factors, diagnostics, clinical manifestations, outcomes, and potential therapies. The present article highlights the importance of early intervention and systematic monitoring of children with perinatal stroke with the aim of improving the child’s development.

The COVID-19 pandemic undoubtedly burdened families, perhaps even more for parents of children with neurodevelopmental disabilities. This research aims to determine the anxiety levels in mothers of children with neurodevelopmental disorders (autism spectrum disorder and specific language impairment) and mothers of typically developed children. The cross-sectional study comprised 280 mothers from the period of the COVID-19 pandemic in Serbia. A confidential survey included main demographic data and the State-Trait Anxiety Inventory (STAI). Results revealed that the mean levels of STAI-S and STAI-T are elevated in the observed sample of mothers in the first pandemic wave; the STAI-S level is in the high category (STAI-S mean = 46.69), while STAI-T is in the intermediate category near the cut-off value for the high level (STAI-T mean = 43.04). A statistically significant strong positive correlation between STAI-S and STAI-T is seen (r = 0.802, p = 0.001). GLMM analysis revealed that interactions, rather than independent variables, significantly impact anxiety, implying a complex relationship between the observed variables and STAI. Compared with the results from the pre-pandemic study, our findings reveal that COVID-19 affects mothers of children with and without neurodevelopmental disorders in a complex manner, imposing a need for psychological support, which may positively affect mothers’ mental health and the development of their offspring.

An increase in the number of children with speech–language pathology also having a genetic disorder imposes the need for speech and language pathologists (SLPs) to have sufficient knowledge about genetic basis of speech–language disorders. Research aim was to estimate in Serbian SLPs different aspects of theoretical and practical knowledge about intercorrelation of genetics and speech and language pathology and to compare obtained results with the results of SLPs in the United States. The questionnaire from Tramontana’s study was used in our study. Comparison of the results that obtained in our study with those in Tramontana’s study has shown that our study respondents have higher General Knowledge Index (78.6%: 66.2%), higher mean confidence summary score (22.2: 16.7) and higher mean score of ‘overall’ attitudes about genetics and its relation with communication disorders (20.8: 13.6). Differences which emerge from educational programmes, educational levels and practical experience in the observed groups are indicated as possible causes of differences in the obtained results. On the basis of the obtained results, it may be concluded that it is necessary to elevate SLPs’ level of general knowledge about genetics and to acquire their knowledge through clinical practice.

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare neurological condition caused by a disruption in the NR2F-1 gene. The most common clinical features are optic atrophy and intellectual and developmental delay. This case report aims to describe the cognitive and language profile of a six-year-old girl diagnosed with BBSOAS, with a focus on the syndrome’s impact on her developmental outcomes. A detailed assessment of her cognitive and speech–language abilities is provided. Given the limited number of published case studies on BBSOAS, this report integrates relevant findings from the literature, including information on epidemiology, diagnostics, clinical manifestations, and developmental outcomes. It contributes to the expansion of the known mutational spectrum of BBSOAS, in addition to documenting its phenotypic presentation of cognitive and speech–language development. The case is analyzed within the context of current evidence, emphasizing the importance of early assessment, individualized intervention, ongoing developmental monitoring, and the potential for tailored support to promote optimal developmental outcomes.

Background: Tetrasomy X (48, XXXX) is an extremely rare sex chromosome aneuploidy characterized by highly variable phenotypic manifestations. It includes various medical issues, a wide range of developmental delays, and neurocognitive deficits. Methods: The present case report provides a comprehensive neurodevelopmental profile of a 4.5-year-old girl with Tetrasomy X, with the aim of contributing to phenotype delineation, exploring genotype–phenotype associations, and emphasizing the importance of early, targeted intervention. A multidisciplinary assessment was conducted, encompassing cognitive, speech–language, motor, sensory, adaptive, and socioemotional functioning, using a battery of standardized and culturally adapted instruments. Results: Results revealed borderline intellectual functioning and mild global developmental delay, with marked intra-individual variability across domains. Motor development was significantly delayed and speech and language assessment demonstrated a pronounced receptive–expressive discrepancy. Sensory processing evaluation revealed a pattern of global sensory under-responsiveness, representing a novel and underreported feature in Tetrasomy X. Adaptive functioning was uneven, with relative strengths in daily living skills and weaknesses in motor abilities. Conclusions: This detailed early developmental characterization highlights the heterogeneity of Tetrasomy X and challenges some of the previous assumptions. The findings underscore the necessity of individualized, multidisciplinary assessment and early intervention to optimize developmental outcomes and quality of life in affected individuals.