Search Results (2,394)

Background: Cerebral palsy (CP) is a lifelong neurodevelopmental disorder characterised by motor impairment and commonly associated with comorbidities such as cognitive, communicative, and behavioural difficulties. While the physical and functional aspects of CP have been extensively studied, the mental health needs of this population remain largely underexplored, particularly concerning suicidal ideation and self-injurious behaviours. The purpose of this review is to synthesise the existing literature on suicidality in individuals with CP, explore theoretical and clinical risk factors, and identify key gaps in the current evidence base. Methods: A narrative literature review was conducted focusing on studies addressing suicidal ideation, self-harm, or related psychiatric outcomes in individuals with CP. Additional literature on risks and protective factors was included to support theoretical inferences and clinical interpretations. Results: Only a limited number of studies addressed suicidality directly in CP populations. However, several reports document elevated rates of depression, anxiety, and emotional distress, particularly among adults and individuals with higher levels of functioning. Communication barriers, chronic pain, social exclusion, and lack of accessible mental health services emerged as critical risk factors. Protective elements included strong family support, inclusive environments, and access to augmentative communication. Conclusions: Suicidality in individuals with CP is a neglected yet potentially serious concern. Evidence suggests underdiagnosis due to factors such as communication barriers and diagnostic overshadowing. Future research should prioritise disability-informed methodologies and validated tools for suicidal ideation, while clinicians should incorporate routine, adapted mental health screening in CP care to ensure early detection and person-centred management. Full article

Neuromuscular hip dysplasia (NHD) is a common deformity in children with cerebral palsy (CP). Although some predictive factors of NHD are known, the prediction of NHD is in its infancy. We present a Clinical Decision Support System (CDSS) designed to calculate the probability of developing NHD in children with CP. The system utilizes an ensemble of three machine learning (ML) algorithms: Neural Network (NN), Support Vector Machine (SVM), and Logistic Regression (LR). The development and evaluation of the CDSS followed the DECIDE-AI guidelines for AI-driven clinical decision support tools. The ensemble was trained on a data series from 182 subjects. Inclusion criteria were age between 12 and 18 years and diagnosis of CP from two specialized units. Clinical and functional data were collected prospectively between 2005 and 2023, and then analyzed in a cross-sectional study. Accuracy and area under the receiver operating characteristic (AUROC) were calculated for each method. Best logistic regression scores highlighted history of previous orthopedic surgery (p = 0.001), poor motor function (p = 0.004), truncal tone disorder (p = 0.008), scoliosis (p = 0.031), number of affected limbs (p = 0.05), and epilepsy (p = 0.05) as predictors of NHD. Both accuracy and AUROC were highest for NN, 83.7% and 0.92, respectively. The novelty of this study lies in the development of an efficient Clinical Decision Support System (CDSS) prototype, specifically designed to predict future outcomes of neuromuscular hip dysplasia (NHD) in patients with cerebral palsy (CP) using clinical data. The proposed system, PredictMed-CDSS, demonstrated strong predictive performance for estimating the probability of NHD development in children with CP, with the highest accuracy achieved using neural networks (NN). PredictMed-CDSS has the potential to assist clinicians in anticipating the need for early interventions and preventive strategies in the management of NHD among CP patients. Full article

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder that frequently affects bulbar function, including feeding and swallowing. Although disease-modifying therapies have improved motor outcomes, little is known about the persistence of oromotor difficulties, particularly with regard to solid food intake. Objective: This study aimed to evaluate mastication and swallowing performance in children with SMA undergoing treatment, and to investigate the association between tongue strength and feeding efficiency. Methods: Twenty-two children with SMA types 1–3 were assessed using the Test of Masticating and Swallowing Solids in Children (TOMASS-C) and the Iowa Oral Performance Instrument (IOPI). Key TOMASS-C outcomes included the number of bites, chewing cycles, swallows, and total eating time. Tongue strength was measured in kilopascals. Results: Most participants showed deviations from age-specific normative values in at least one TOMASS-C parameter. Tongue strength was significantly lower than reference values in 86% of participants and correlated negatively with all TOMASS-C outcomes (p < 0.001). Children with weaker tongue pressure required more swallows, more chewing cycles, and longer eating times. Conclusions: Despite pharmacological treatment, children with SMA experience persistent difficulties in eating solid foods. Tongue strength may serve as a non-invasive biomarker for bulbar dysfunction and support dietary decision-making and therapeutic planning. Full article

Background: Temporomandibular disorders are a generic term referred to clinical conditions involving the jaw muscles and temporomandibular joint with multifactorial pattern and genetic background. The aim of this observational study was to investigate the correlation between craniomandibular disorders and the presence of occlusal alterations. A clinical evaluation of the occlusal and articular status of the patients was carried out, integrating the latter with the electromyographic recording the activity of the masseter and temporalis muscles. Methods: A clinical observational study on 20 adults assessed temporomandibular disorders using DC/TMD criteria, anamnesis, clinical exams, occlusal and electromyographic analyses. Occlusion was evaluated morphologically and functionally. Electromyography tested static/dynamic muscle activity. Data were statistically analyzed using t-tests and Pearson correlation (p < 0.05). Results: Electromyographic analysis revealed significant differences between subjects with and without visual correction, suggesting that visual input influences masticatory muscle activity. Correlations emerged between occlusal asymmetries and neuromuscular parameters. These findings highlight clinical implications for mandibular function, muscle symmetry, and the potential for therapeutic rebalancing through targeted interventions. Conclusions: The study demonstrates a significant correlation between visual–motor integration and masticatory muscle efficiency. It emphasizes lateralized neuromuscular activation’s influence on occlusal contact distribution. Moreover, it identifies mandibular torsion–endfeel inverse correlation as a potential diagnostic marker for craniomandibular dysfunctions via surface electromyography. Full article

Ulcerative colitis is a chronic intestinal disorder that belongs to the category of inflammatory bowel diseases, and is usually characterized by the presence of bloody diarrhea and abdominal pain, due to an accelerated transit and intestinal sensibilization following inflammation of the colonic mucosa. However, the literature reports that ulcerative colitis may sometimes feature fecal stasis with constipation. This apparent paradox may be partially explained by the motor abnormalities of the large bowel following inflammation, damage to the enteric innervation, and the onset of parietal fibrosis over time. Moreover, some anorectal abnormalities such pelvic floor dyssynergia may explain the symptoms of constipation reported in subsets of patients. Since these abnormalities may be responsible for diagnostic delays and non- or partial responses to therapy, it is important to recognize them as early as possible to avoid incorrect clinical and therapeutic approaches to these patients. Full article

In individuals exposed to relatively mild methylmercury, even if they appeared to be independent in activities of daily living (ADL), slower judgment and motor responses in daily activities were observed, suggesting potential cognitive impairment. To quantitatively assess this impairment, we measured reaction time (RT) in a visual search test, as a visual cognitive ability test. The study participants included 24 residents from contaminated areas with sensory impairments in the limbs but no visual field defects (E group), as well as 12 individuals from non-contaminated areas (Group C). The 24 participants from contaminated areas were further divided into two groups: 12 without hand motor coordination disorders (Group E-HA) and 12 with such disorders (Group E+HA). Participants were instructed to search for the target letter “Z” on a computer screen, and the visual stimuli consisted of two, six, or ten alphabet letters. An equal number of trials contained “Z” and did not contain “Z,” for a total of thirty trials, which were conducted twice. RT was significantly longer in Group E+HA, followed by Group E-HA, and then Group C. However, in the second test, RT decreased in all cases, with a greater reduction in the exposed groups compared to the control group. These results suggest that methylmercury exposure may cause cognitive impairment, yet it also possesses plasticity. Full article

Background/Objectives: Huntington’s disease (HD) is a neurodegenerative disorder involving the basal ganglia and is characterized by psychiatric, cognitive, and movement dysfunction, including gait and balance impairment. Given the limited efficacy of pharmacological treatments for HD motor symptoms, nonpharmacological approaches like rhythmic auditory stimulation are being explored. This study aims to describe walking performance in people with HD during rhythmic auditory stimulation using external musical cues and internal singing cues. Methods: Individuals in the manifest stage of HD performed walking in four conditions: (1) comfortable pace, (2) cognitive dual task, (3) musical cue (music was played aloud), and (4) singing cue (participants sang aloud). Sensors measured cadence, velocity, stride length, and variability. Relationships between change in cadence and motor and cognitive measures were explored. Results: While no direct measurements of synchronization were performed, limiting our interpretation, neither the external musical cue nor the singing cue significantly improved walking performance. Both cues increased variability, similar to what was observed during the dual task. Greater subjective balance confidence and better cognitive performance were associated with positive cadence change during cueing. Conclusions: Musical cues may be too cognitively demanding for individuals with Huntington’s disease as they worsen gait variability without increasing gait speed, cadence, or stride length. Although global cognition and perceived balance confidence were related to the ability to increase cadence, very few people were able to increase their cadence during either cue. Therefore, the results do not support the use of musical cues to improve gait for individuals with Huntington’s disease. Full article

Parkinson’s disease (PD) is a common neurodegenerative disorder with substantial global impact. Although current therapies can provide symptomatic relief, they are often associated with high costs and adverse effects. Natural compounds with a history of traditional medicinal use have emerged as promising alternatives. In this study, we investigated the therapeutic potential and underlying mechanisms of berberine in both cellular and animal models of PD. In vitro, SH-SY5Y cells exposed to 6-hydroxydopamine (6-OHDA) exhibited decreased viability and increased oxidative stress, both of which were significantly alleviated by berberine treatment based on cell viability assays and DCFH-DA staining. Western blot analysis revealed that berberine modulated the AMPK–PGC-1α–SIRT1 signaling pathway and restored the expression of autophagy-related proteins LC3B and P62, suggesting that berberine could improve mitochondrial function and autophagy balance. In vivo studies using a 6-OHDA-induced PD mouse model further confirmed these effects, showing that berberine could improve motor function and lead to molecular changes consistent with in vitro studies. Additionally, safety evaluations indicated no significant hepatotoxicity based on AST and ALT levels. Body weight also remained stable throughout treatment. Collectively, our findings suggest that berberine can not only alleviate PD-related symptoms but also target key pathological mechanisms, supporting its potential as a therapeutic candidate for PD and other neurodegenerative diseases. Full article

Background/Objectives: Accurate assessment of speech intelligibility is necessary for individuals with motor speech disorders. Transcription or scaled rating methods by naïve listeners are the most reliable tasks for these purposes; however, they are often resource-intensive and time-consuming within clinical contexts. Automatic speech recognition (ASR) systems, which transcribe speech into text, have been increasingly utilized for assessing speech intelligibility. This study investigates the feasibility of using an open-source ASR system to assess speech intelligibility in Hebrew and English speakers with Down syndrome (DS). Methods: Recordings from 65 Hebrew- and English-speaking participants were included: 33 speakers with DS and 32 typically developing (TD) peers. Speech samples (words, sentences) were transcribed using Whisper (OpenAI) and by naïve listeners. The proportion of agreement between ASR transcriptions and those of naïve listeners was compared across speaker groups (TD, DS) and languages (Hebrew, English) for word-level data. Further comparisons for Hebrew speakers were conducted across speaker groups and stimuli (words, sentences). Results: The strength of the correlation between listener and ASR transcription scores varied across languages, and was higher for English (r = 0.98) than for Hebrew (r = 0.81) for speakers with DS. A higher proportion of listener–ASR agreement was demonstrated for TD speakers, as compared to those with DS (0.94 vs. 0.74, respectively), and for English, in comparison to Hebrew speakers (0.91 for English DS speakers vs. 0.74 for Hebrew DS speakers). Listener–ASR agreement for single words was consistently higher than for sentences among Hebrew speakers. Speakers’ intelligibility influenced word-level agreement among Hebrew- but not English-speaking participants with DS. Conclusions: ASR performance for English closely approximated that of naïve listeners, suggesting potential near-future clinical applicability within single-word intelligibility assessment. In contrast, a lower proportion of agreement between human listeners and ASR for Hebrew speech indicates that broader clinical implementation may require further training of ASR models in this language. Full article

Objective: Retained primitive reflexes are associated with delayed motor and behavioral development in children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This study examined the effects of a 12-week structured exercise intervention on reflex integration, motor coordination, and socio-behavioral outcomes in these populations. Method: Fifteen children with ASD (13 boys, 2 girls) and twelve with ADHD (8 boys, 4 girls), aged 6–12 years, participated in rhythmic, balance, and coordination-based exercises. Primitive reflexes, including the asymmetrical tonic neck reflex (ATNR), were assessed using standardized protocols, and fine motor coordination was evaluated using the Finger and Thumb Opposition Test (FOT). Behavioral outcomes were measured using the Social Responsiveness Scale-2 (SRS-2) for the ASD group and the Conners 3 for the ADHD group. Results: The ASD group showed significant reductions in left-standing ATNR retention scores (p = 0.012) and improvements in right-hand FOT scores (p = 0.023). In the ADHD group, significant improvements were also observed in right-hand FOT scores (p = 0.007). Furthermore, Conners 3 Total and Global Index scores significantly decreased in the ADHD group (p = 0.016 and 0.020, respectively). Reflex retention patterns appeared broader and more bilateral in ASD than in ADHD, suggesting distinct motor developmental profiles. Conclusions: Short-term rhythmic, balance, and whole-body coordination exercise interventions may support behavioral and motor development in children with ASD and ADHD. Tailored programs emphasizing reflex integration hold promise for clinical and educational applications. Full article

Background: Very preterm infants are at increased risk of impairment. The objective was to explore the effect of immediate parent–infant skin-to-skin contact at very preterm birth on cognition, motor, social, and language development during the two first years. Methods: The Immediate Parent-Infant Skin-To-Skin Study (IPISTOSS) was a clinical trial with inclusions between April 2018 to June 2021, in three Scandinavian neonatal intensive care units. Infants were randomised at gestational age 28 + 0 to 32 + 6 weeks plus days, to immediate and continuous skin-to-skin contact at birth or conventional care, during the first six hours of life. Results: At three months, 42 infants underwent a General Movement Assessment. At four and 12 months, 69 and 62 infants, respectively, were assessed with the Alberta Motor Infant Scale. At 24 months, language and cognition were tested in 62 infants with the Bayley Scales of Infant and Toddler Development, third edition. Parents completed the Modified Checklist for Autism in Toddlers for 57 infants. There were no significant differences in motor development, cognition, or autism spectrum disorders. A significant difference in language scores in favour of immediate skin-to-skin contact, was found, when adjusted for fathers’ education, mothers’ education, and infants’ sex, Beta (95% CI): 32.00 (7.57, 56.43) p = 0.01, 11.51 (8.94, 55.06) p = 0.007, and 32.00 (7.85, 56.15) p = 0.01, respectively. Conclusions: Skin-to-skin contact immediately at birth did not enhance cognition, motor, or social development during the first two years of life but may have been important for language skills. Our findings support the World Health Organisation guidelines recommending iSSC for preterm born infants in all settings. Full article

Background/Objectives: Dystonia, traditionally regarded as a purely motor disorder, is now increasingly recognized as involving clinically significant non-motor symptoms (NMSs) that can adversely affect patients’ health-related quality of life (HRQoL). This study aimed to assess HRQoL in Romanian patients with isolated dystonia and to evaluate the impact of two key NMSs, depression and cognitive impairment, on their HRQoL. We hypothesized that depression would have a greater adverse effect on HRQoL than cognitive impairment. Methods: A cross-sectional study was conducted involving 65 adult Romanian patients with isolated dystonia. HRQoL was measured using the Short Form-36 Health Survey (SF-36), including the physical component summary (PCS) and mental component summary (MCS). Depressive symptoms were assessed using the Patient Health Questionnaire-9 (PHQ-9), and cognitive impairment was assessed using the Montreal Cognitive Assessment (MoCA). Descriptive statistics, correlation analysis, and parametric and non-parametric tests were used. Multiple regression analysis was employed to evaluate associations between NMS and HRQoL. Results: The mean (SD) age was 56.6 (14.3) years, and 80% of participants were female. Depression and cognitive function were significantly associated with PCS (0.33 and −0.51, respectively) and MCS (0.26 and −0.78, respectively). Multiple regression analysis showed that the two NMS explained 38% of the variance in PCS and 58% of the variance in MCS. Depression had a greater impact on PCS and MCS than cognitive impairment (−0.47 vs. 0.33 and −0.72 vs. 0.16, respectively). Cognitive impairment (MoCA < 26) was present in 35.4% of patients, while 46.2% had at least mild depressive symptoms (PHQ-9 ≥ 5); 23.1% met criteria for moderate-to-severe depression (PHQ-9 ≥ 10). Depressive symptoms showed strong negative correlations with all SF-36 domains, while cognitive performance correlated modestly. Conclusions: Both depression and cognitive impairment have a significant negative impact on HRQoL in dystonia, with depression having a stronger effect, as we hypothesized. Routine screening for non-motor symptoms is essential to support better clinical outcomes and enhance patients’ quality of life. Full article

Background and Objectives: Toe walking (TW) is frequently observed in children with Autism Spectrum Disorder (ASD), yet its clinical significance and association with comorbid conditions remain poorly understood. This study aimed to examine the prevalence of TW in a large Italian cohort of children with ASD and to explore its association with ASD severity, sleep disturbances, feeding behaviors, and gastrointestinal symptoms. Materials and Methods: A total of 289 children with ASD and 289 typically developing controls (TDC), matched for age and sex, were evaluated in a multicentric observational study. TW was assessed during neurodevelopmental evaluations. Sleep quality was assessed using the Sleep Disturbance Scale for Children (SDSC), feeding behaviors via the Brief Autism Mealtime Behavior Inventory (BAMBI), and gastrointestinal symptoms through clinical reporting. Statistical analyses included Chi-square tests, Mann–Whitney U tests, Spearman correlations, and logistic regressions. Results: TW was significantly more prevalent in the ASD group (27.3%) than in TDC (5.5%, p < 0.0001). Within the ASD group, TW occurred in 50.5% of children with Level 3 severity but was absent in Levels 1 and 2 (p < 0.0001). Males exhibited TW more frequently than females. Children with TW had higher SDSC scores (ρ = 0.33, p < 0.0001), though no subscale independently predicted TW. Constipation was reported in 100% of children with Level 3 ASD and was strongly correlated with SDSC total scores (ρ = 0.58, p < 0.0001). The Disorders of Arousal (DA) subscale emerged as an independent predictor of constipation (β = 0.184, p = 0.019). Conclusions: TW in ASD appears to be a marker of greater neurodevelopmental severity and is associated with sleep disturbances and gastrointestinal dysfunction. These findings support the hypothesis that TW may reflect broader dysfunctions involving the gut–brain axis, sensory processing, and motor control. The routine clinical assessment of TW should include the evaluation of sleep and somatic symptoms to better understand the multisystemic nature of ASD phenotypes. Full article

SYNGAP1-related disorder is a rare neurodevelopmental disorder characterized by intellectual and motor disabilities, including disordered gait control. Currently, there have been few studies that have assessed the gait of individuals with SYNGAP1-related disorder using technology-based collection techniques. The purpose of this investigation was to characterize the kinematic gait pattern of these individuals using camera-based motion capture technology during treadmill walking. Both linear and non-linear analysis techniques were used to analyze bilateral lower-limb joint motion and compare the results to age-matched neurotypical individuals. Results indicate that joint range of motion and velocity were decreased in the patient population relative to the neurotypical participants with the non-linear measures of angle–angle and phase portrait areas reflecting similar outcomes. The combination of linear and non-linear measures provide complementary information that, when used in combination, can provide deeper insights into the coordination and control of gait than if either of the measurement techniques are used in isolation. Such information can be useful to clinicians and therapists to develop targeted interventions designed to improve the gait of individuals with SYNGAP1-related disorder. Full article

Background: Some neonates are assessed for the risk of atypical psychomotor development at birth and are referred for reflex locomotion therapy using the Vojta method. Aim: The aim of this study was to analyze the relationships between spontaneous motor activity (SMA), ideal movement patterns (IMPs), central coordination disorders (CCDs), vital signs at birth, involuntary reflexes, and postural asymmetry in infants. Methods: This study involved 90 female and 107 male subjects in the age interval of 1–16 months (4.15 ± 2.18). Their psychomotor development was assessed using the Vojta method. Age-appropriate involuntary reflexes were evaluated, and both parameters were correlated with perinatal risk factors. Results: Males scored significantly higher than females (difference of −0.7, p = 0.022) in the SMA test. In both genders, SMA (p < 0.001 in both genders) and IMP scores improved significantly with age. In male infants, higher CCD scores were associated with significantly lower SMA and IMP scores (p = 0.017 and p < 0.001, respectively). Significantly higher CCD scores were noted in female subjects with the Moro reflex and postural asymmetry (p = 0.003 and p = 0.002, respectively). In males, the Moro reflex was significantly correlated with the Vojta reaction (p = 0.012) and the Collis vertical suspension reflex (p < 0.001). Conclusions: Vital signs at birth, including birth weight, Apgar score, and type of delivery, can predict motor development disorders but do not clearly differentiate infants that require neurodevelopmental therapy. Full article