Search Results (8)

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. Full article

Human–robot collaboration will play an important role in the fourth industrial revolution in applications related to hostile environments, mining, industry, forestry, education, natural disaster and defense. Effective collaboration requires robots to understand human intentions and tasks, which involves advanced user profiling. Voice-based communication, rich in complex information, is key to this. Beamforming, a technology that enhances speech signals, can help robots extract semantic, emotional, or health-related information from speech. This paper describes the implementation of a system that provides substantially improved signal-to-noise ratio (SNR) and speech recognition accuracy to a moving robotic platform for use in human–robot interaction (HRI) applications in static and dynamic contexts. This study focuses on training deep learning-based beamformers using acoustic model-based multi-style training with measured room impulse responses (RIRs). The results show that this approach outperforms training with simulated RIRs or matched measured RIRs, especially in dynamic conditions involving robot motion. The findings suggest that training with a broad range of measured RIRs is sufficient for effective HRI in various environments, making additional data recording or augmentation unnecessary. This research demonstrates that deep learning-based beamforming can significantly improve HRI performance, particularly in challenging acoustic environments, surpassing traditional beamforming methods. Full article

The aim of this research was to characterize cognitive abilities in patients with Glut1-Deficiency syndrome (Glut1DS) following ketogenic diet therapy (KDT). Methods: The cognitive profiles of eight children were assessed using the Wechsler Intelligence Scale (WISC-IV). The effect of ketogenic diet therapy (KDT) on individual subareas of intelligence was analyzed considering the potential influence of speech motor impairments. Results: Patients with Glut1DS showed a wide range of cognitive performance levels. Some participants showed statistically and clinically significant discrepancies between individual subdomains of intelligence. Both variables, KDT initiation as well as duration, had a positive effect on the overall IQ score. Significant correlations were partially found between the time of KDT initiation and the level of IQ scores, depending on the presence of expressive language test demands of the respective subtests of the WISC-IV. Accordingly, the participants benefited les in the linguistic cognitive domain. The discrepancies in cognitive performance profiles of patients with Glut1DS can be attributed to the possibility of a negative distortion of the results due to the influence of speech motor impairments. Conclusions: The individual access skills of test persons should be more strongly considered in test procedures for the assessment of intelligence to reduce the negative influence of motor deficits on test performance. Specific characterization and systematization of the speech disorder are indispensable for determining the severity of speech motor impairment in Glut1DS. Therefore, a stronger focus on dysarthria during diagnosis and therapy is necessary. Full article

Background: Sex chromosome aneuploidies (SCAs) are a group of disorders characterised by an abnormal number of sex chromosomes. Collective prevalence rate of SCAs is estimated to be around 1 in 400–500 live births; sex chromosome trisomies (e.g., XXX, XXY, XYY) are most frequent, while tetra- and pentasomies (e.g., XXXX, XXXXX, XXXY, XXXXY) are rarer, and the most common is 48, XXYY syndrome. The presence of additional X and/or Y chromosomes is believed to cause neurodevelopmental differences, with increased risk for developmental delays, language-based learning disabilities, cognitive impairments, executive dysfunction, and behavioural and psychological disorders. Aim of the Study: Our review has the purpose of analysing the neurocognitive, linguistical and behavioural profile of patients affected by sex chromosomes supernumerary aneuploidies (tetrasomy and pentasomy) to better understand the specific areas of weakness, in order to provide specific rehabilitation therapy. Methods: The literature search was performed by two authors independently. We used MEDLINE, PubMed, and PsycINFO search engines to identify sources of interest, without year or language restrictions. At the end of an accurate selection, 16 articles fulfilled the inclusion and exclusion criteria. Results and Conclusions: International literature has described single aspects of the neuropsychological profile of 48, XXYY and 49, XXXXY patients. In 48, XXYY patients, various degrees of psychosocial/executive functioning issues have been reported and there is an increased frequency of behavioural problems in childhood. Developmental delay and behavioural problems are the most common presenting problems, even if anxiety, depression and oppositional defiant disorder are also reported. They also show generalized difficulties with socialization and communication. Cognitive abilities are lower in measures of verbal IQ than in measures of performance IQ. Visuospatial skills are a relative strength compared to verbal skills. In patients with 49, XXXXY, both intellectual and adaptive functioning skills fall into the disability range, with better non-verbal cognitive performance. Speech and language testing reveals more deficits in expressive language than receptive language and comprehension. Anxiety, thought problems, internalizing and externalizing problems, and deficits in social cognition and communication are reported. Behavioural symptoms lessen from school age to adolescence, with the exception of thought problems and anxiety. Individuals affected by sex chromosome aneuploidies show testosterone deficiency, microorchidism, lack of pubertal progression and infertility. Hormone replacement therapy (HRT) is usually recommended for these patients: different studies have found that testosterone-based HRT benefit a wide range of areas initiated in these disorders, affecting not only neuromotor, cognitive and behavioural profile but also structural anomalies of the brain (i.e., increase of volume of grey temporal lobe matter). In conclusion, further studies are needed to better understand the neuropsychological profile with a complete evaluation, including neurocognitive and psychosocial aspects and to establish the real impact of HRT on improving the cognitive and behavioural profile of these patients. Full article

Introduction: Total thyroidectomy (TT) is one of the most common surgical endocrine surgeries. Voice impairment after TT can occur not only in patients with recurrent laryngeal nerve (RLN) transient paralysis, but also in cases of normal vocal cord mobility. Aim: To compare voice limits using a speech range profile (SRP) in patients before and 14 days after TT and to investigate the influence of the early results of voice quality after TT on the personal lives of patients. We focused on the perception of voice change before and shortly after TT. Materials and methods: A retrospective study, in the period 2018–2020, included 65 patients aged 22–75 years. We compared two groups of patients: group I (n = 45) (without RLN paresis) and group II (n = 20) (with early transient postoperative RLN paresis). Patients underwent video flexible laryngocopy, SRP, and Voice Handicap Index-30 (VHI-30). Results: In group I, the mean values of F_max (maximum frequency) and I_max (maximum intensity) decreased in women (both p = 0.001), and VHI-30 increased (p = 0.001). In group II after TT in women, the mean F_max and I_max values decreased (p = 0.005 and p = 0.034), and the frequency range of the voice was reduced from 5 to 2 semitones. The dynamic range of the voice was reduced by 3.4 dB in women and 5.1 dB in men.VHI-30 increased (p = 0.001). Conclusion: The study documented a worsening of the mean values of SRP, VHI-30, and voice parameters of patients in group II. Voice disorders also occurred in group I without RLN paresis. Non-paretic causes can also contribute to voice damage after TT. SRP and VHI-30 are suitable tools for comparing voice status in two groups of patients, including those with dysphonia. Our data support the claim that the diagnosis of a thyroid cancer does not necessarily imply a higher postoperative risk of impaired voice quality for the patient. Full article

Research suggests that individuals with intellectual disabilities (ID) experience difficulties in communication, ranging from intelligibility issues to more severe problems in the use and comprehension of spoken, written or sign language. Despite the negative effects that the inability to communicate have on quality of life (QoL), not much research has explored the relationship between communicative competence and QoL in the adult population with ID. The aim of this study was to describe the global communication profile of a sample of 281 adults with ID recruited from Grupo AMÁS Social Foundation, who differed in their level of communication support needs (CSN). The relationships between communicative competence and CSN with QoL were further examined. The results showed lower QoL indices for those participants characterized by their limited use of discourse and inability to exhibit certain communicative purposes, with the largest differences in the dimensions of self-determination, social inclusion, interpersonal relationships, emotional wellbeing and personal development. Overall, low levels of QoL were found for all participants, with even lower scores for the group identified as having CSN. A multiple regression model revealed that having speech/discourse competence is a powerful predictor of QoL, along with the level of disability and having the communicative competences to express likes and preferences or to establish new relationships. This clear relationship between communication and QoL is an important argument for disability support services when it comes to setting communication supports as a priority and as an important preventive step towards the protection of those at risk of exclusion. Full article

Past work has shown relationship between the ability to discriminate spectral patterns and measures of speech intelligibility. The purpose of this study was to investigate the ability of both children and young adults to discriminate static and dynamic spectral patterns, comparing performance between the two groups and evaluating within- group results in terms of relationship to speech-in-noise perception. Data were collected from normal-hearing children (age range: 5.4-12.8 years) and young adults (mean age: 22.8 years) on two spectral discrimination tasks and speech-in-noise perception. The first discrimination task, involving static spectral profiles, measured the ability to detect a change in the phase of a low-density sinusoidal spectral ripple of wideband noise. Using dynamic spectral patterns, the second task determined the signal-to-noise ratio needed to discriminate the temporal pattern of frequency fluctuation imposed by stochastic lowrate frequency modulation (FM). Children performed significantly poorer than young adults on both discrimination tasks. For children, a significant correlation between speech-in-noise perception and spectral- pattern discrimination was obtained only with the dynamic patterns of the FM condition, with partial correlation suggesting that factors related to the children’s age mediated the relationship. Full article

Objectives. To analyze vocal capabilities in patients diagnosed with reflux related dysphonia versus controls with healthy voice with selection of the most informative discriminating quantitative parameters and to assess voice changes following treatment.
Material and methods. Six parameters of voice range profile (VRP) and five parameters of speech range profile were taken and analyzed from 60 dysphonic outpatient females with laryngopharyngeal reflux (LPR) diagnosed by reflux-related atypical and typical symptoms, videolaryngoscopic findings, upper gastrointestinal endoscopy, and positive response to empiric 3-month omeprazole treatment. Seventy-six females with healthy voice served as controls.
Results. All six parameters of voice range profile and three of 5 parameters of speech range profile showed significant differences comparing LPR patients with controls before omeprazole treatment (P<0.05). Logistic regression analysis revealed VRP maximum-minimum intensity range to be the most informative parameter for discrimination between reflux-related dysphonic and healthy voices (overall prediction accuracy, 86.8%). A threshold value of significant parameter was stated using the receiver operating characteristic curve. Treatment with omeprazole significantly improved voice quality showing the greatest changes in the mean scores of majority of voice range profile parameters.
Conclusions. Vocal capabilities, especially evaluated by voice range profile, are restricted in LPR female patients in comparison to subjects with healthy voice. Quantitative voice assessment with voice range profile may add more objective aspect for screening dysphonia and could be used as a criterion of evaluation of treatment efficacy in such patients. Full article