Laura Turriziani

Introduction: Vitamin D deficiency is highly prevalent among hospitalized patients, and its effects on skeletal muscle function and systemic inflammation suggest that baseline status might influence functional recovery; however, evidence specifically in intensive inpatient rehabilitation remains scarce. Methods: In this retrospective observational cohort study, 97 adults (mean age 65.0 ± 13.1 years) admitted to intensive inpatient rehabilitation were enrolled. Serum 25-hydroxyvitamin D [25(OH)D] obtained within 48 h of admission was analyzed both as a continuous variable and categorized into deficient, insufficient, and sufficient groups. The primary outcome was the Functional Independence Measure (FIM) at discharge adjusted for admission score; secondary outcomes included the Barthel Index (BI), Functional Ambulation Category (FAC), 6-min walk test (6MWT), and length of stay. Hierarchical linear regression was performed adjusting for admission functional status, age, comorbidity burden, and diagnostic group, with robust standard errors and bootstrap confidence intervals. Results: Hypovitaminosis D affected 78.4% of patients. Despite substantial functional improvement across the cohort, baseline serum 25(OH)D was not associated with any outcome measure—neither as a continuous variable nor across vitamin D categories—in unadjusted or fully adjusted analyses. Admission functional status (i.e., FIM) was the dominant predictor in all models. Discussion: Baseline serum 25(OH)D did not predict functional recovery during intensive inpatient rehabilitation, irrespective of outcome measure. Although hypovitaminosis D was highly prevalent and warrants correction for skeletal health, the present study did not find evidence to support the use of serum 25(OH)D as a prognostic marker of rehabilitation outcome.

Background/Objectives: Family-Centered Care (FCC) is an established standard in pediatric rehabilitation, but it has been studied almost entirely inside health services; whether its principles survive the move into community settings is largely unknown. This paper describes how caregivers perceive the family-centeredness of a community-based adapted sport program and characterizes child quality of life and caregiver well-being. Methods: Cross-sectional study within the “Skill-In” program (University of Messina). Nineteen caregivers of children with neurodevelopmental disabilities completed the MPOC-20, the KIDSCREEN-52 proxy version and the CarerQoL, analyzed with Spearman correlations and bootstrap confidence intervals. Results: The overall MPOC-20 mean item score was 5.43/7 (SD 0.83), concealing a wide spread from Respectful and Supportive Care (6.25) to Providing General Information (3.78). “Not applicable” responses (14.2%) clustered in items presupposing a clinical provider. KIDSCREEN-52 raw sums were converted to Rasch-based T-values (norm: mean 50, SD 10). Eight of ten dimensions fell within half a standard deviation of the norm, including Social Acceptance (47.65); two did not, Social Support and Peers (34.58) and Autonomy (39.42), each over one standard deviation below. Caregivers reported favorable well-being (CarerQoL-VAS 7.32/10), though six of nineteen reported no support. Associations between care processes and family outcomes were weak. Conclusions: A sport organization with no clinical mandate delivered the relational core of family-centered care comparably to rehabilitation services, while falling short on structured information. The children’s quality-of-life profile was normal on most dimensions but selectively low on peer support and autonomy. Acceptance, on this evidence, is not connection: social participation must be designed for, not assumed.

Sensory processing differences, reported in up to 97% of individuals with autism spectrum disorder (ASD), are increasingly recognized as a defining feature of the condition, shaping perception, cognition, and adaptive behavior. Atypical sensory responsivity, ranging from hyper- to hypo-reactivity and sensory seeking, emerges early in development and contributes to the clinical and neurobiological heterogeneity of autism. Alterations in neural connectivity, the balance of excitation and inhibition, and multisensory integration are thought to underlie these sensory profiles, influencing emotional regulation, attention, and social interaction. Sensory features also interact with co-occurring conditions such as anxiety, attention deficit hyperactivity disorder, and sleep and feeding difficulties, thereby shaping developmental trajectories and influencing adaptive behavior. Clinically, these sensory dysfunctions have a significant impact on daily participation and quality of life, extending their effects to family functioning. Understanding individual sensory phenotypes is therefore essential for accurate assessment and personalized intervention. Current therapeutic approaches include Sensory Integration Therapy, Sensory-Based Interventions, Sequential Oral Sensory Approach, and structured physical activity programs, often complemented by behavioral and mindfulness-based techniques. Emerging neuroplasticity-oriented methods for targeted modulation of sensory processing networks include neurofeedback and non-invasive brain stimulation. Overall, current evidence highlights the central role of sensory processing in ASD and underscores the need for multidisciplinary, individualized approaches to optimize developmental trajectories and enhance adaptive functioning. This review provides an updated synthesis of sensory processing in ASD, integrating neurobiological, developmental, and clinical evidence to highlight established knowledge, unresolved questions, and priorities for future research.

: Autism Spectrum Disorder (ASD) is a complex and heterogeneous neurodevelopmental disorder. Its incidence has dramatically risen during the last few decades. ASD is a multifactorial disorder. In addition to genetic factors, the environment plays a key role during critical periods of neurodevelopment. The prenatal environment, as well as perinatal and postnatal exposures to infection and inflammation, are increasingly identified as potential risk factors for autism and can influence development and increase neurodevelopmental disorders. Immune dysfunction and dysregulation are considered an important factor contributing to the pathogenesis of autism and may influence the course and severity of the disease. This study aims to analyze the data available in the scientific literature regarding the correlation between respiratory infections and autism.

Background: Gestures or manual signing are valid options for augmentative and alternative communication. However, the data in the literature are limited to a few neurodevelopmental disorders, and less is known about its application in the community setting. Objectives: This case report explores the feasibility and preliminary efficacy of tact training with augmentative gestural support intervention for a child affected by a language disorder with challenging behaviors in a community setting. Methods: Baseline assessments were conducted using the Verbal Behavior Milestone Assessment and Placement Program (VB-MAPP) and Griffiths Mental Developmental Scale-III (GMDS-III). The patient received six months of standard treatment, consisting of neuropsychomotor and speech therapy each twice a week, with improved cooperation in proposed activities, but no improvement in language. Afterward, a total of 24 sessions of tact training with augmentative gestural support interventions were performed. Data were collected by two independent observers and analyzed to measure language and behavioral outcomes. Results: VB-MAPP scores increased form minimal communication and social interaction at T0 (baseline) to improved compliance but unchanged language skills at T1 (after standard therapy). After tack training with augmentative gestural support (T2), VB-MAPP scores showed significant improvements, with notable increases in verbal operants, independence in communication, and intersubjectivity skills. GMDS-III scores at T2 also demonstrated growth in social, communicative, and cognitive skills. Additionally, challenging behaviors were reduced by more than 70% and nearly resolved by the end of the intervention. Conclusions: Personalized approaches appear to be essential for interventions tailored to developmental age. Further research is needed to determine the effectiveness of these approaches for other neurodevelopmental disorders, identify patient characteristics that may be predictors of outcomes to tailor the intervention, and explore the generalization of the results obtained with these strategies.

Autism spectrum disorder is a neurodevelopmental disorder with a rising prevalence disorder. This high-cost/high-burden condition needs evidence-based behavioral treatments that are able to reduce the impact of symptoms on children’s functioning. This retrospective chart review study compared the impact of different types of early interventions on toddlers diagnosed with an autism spectrum disorder developmental profile. Analyses were conducted on 90 subjects (mean = 27.76 months, range 18–44 months; M:F = 4.29:1), of which 36 children underwent the usual treatment, 13 children underwent an intervention based on early intensive behavioral intervention (EIBI) and 41 children received the Early Start Denver Model, for one year, with the same weekly frequency of about 6 h a week. A significant decrease in the severity of autism symptoms was observed for all children when looking at the Ados-2 severity score (average difference = 3.05, SD = 0.71, p = < 0.001) and the Ados-2 social subscale (average difference = 2.87, SD = 0.59, p < 0.001). Otherwise, for most of the Griffiths subscales, we found a significant improvement only for those children who underwent the Early Start Denver Model intervention (General Quotient average difference = 14.47, SD = 3.22, corrected p < 0.001). Analyzing the influence of age on the investigated scores, we found a significant association with the Eye–hand Coordination Quotient (p = 0.003), Performance Quotient (p = 0.042) and General Quotient (p = 0.006). In all these domains, a mild negative correlation with age was observed, as measured by the Pearson’s correlation coefficient (r = −0.32, p = 0.002; r = −0.21, p = 0.044; r = −0.25, p = 0.019, respectively), suggesting less severe developmental skills at the start of treatment for older children. Our results are consistent with the literature that underlines the importance of early intervention, since prompt diagnosis can reduce the severity of autism symptoms; nevertheless, in toddlers, our study demonstrated that an intervention model based on naturalistic developmental behavioral principles such as the Early Start Denver Model is more effective on children’s developmental profile. Further studies are required to assess the extent of effectiveness of different early intervention models in community settings.

Autism Spectrum Disorder (ASD) encompasses a clinical spectrum of neurodevelopmental conditions that display significant heterogeneity in etiology, symptomatology, and severity. We previously compared 30 young children with idiopathic ASD and 30 unrelated typically-developing controls, detecting an imbalance in several compounds belonging mainly to the metabolism of purines, tryptophan and other amino acids, as well as compounds derived from the intestinal flora, and reduced levels of vitamins B6, B12 and folic acid. The present study describes significant urinary metabolomic differences within 14 pairs, including one child with idiopathic ASD and his/her typically-developing sibling, tightly matched by sex and age to minimize confounding factors, allowing a more reliable identification of the metabolic fingerprint related to ASD. By using a highly sensitive, accurate and unbiased approach, suitable for ensuring broad metabolite detection coverage on human urine, and by applying multivariate statistical analysis, we largely replicate our previous results, demonstrating a significant perturbation of the purine and tryptophan pathways, and further highlight abnormalities in the “phenylalanine, tyrosine and tryptophan” pathway, essentially involving increased phenylalanine and decreased tyrosine levels, as well as enhanced concentrations of bacterial degradation products, including phenylpyruvic acid, phenylacetic acid and 4-ethylphenyl-sulfate. The outcome of these within-family contrasts consolidates and extends our previous results obtained from unrelated individuals, adding further evidence that these metabolic imbalances may be linked to ASD rather than to environmental differences between cases and controls. It further underscores the excess of some gut microbiota-derived compounds in ASD, which could have diagnostic value in a network model differentiating the metabolome of autistic and unaffected siblings. Finally, it points toward the existence of a “metabolic autism spectrum” distributed as an endophenotype, with unaffected siblings possibly displaying a metabolic profile intermediate between their autistic siblings and unrelated typically-developing controls.

Antipsychotics (APDs) represent the main pharmacological strategy in the treatment of schizophrenia; however, their administration often may result in severe adverse effects, such as extrapyramidal symptoms. Typically, dystonic movements are considered the result of impaired function and/or abnormalities of dopaminergic neurotransmission/signaling in the basal ganglia. The catechol O-methyltransferase (COMT) gene is located within the 22q11.2 region, and its product is an enzyme involved in transferring a methyl group from S-adenosylmethionine to catecholamines, including dopamine. Studies showed that COMT Val158Met polymorphism modifies enzymatic activity and, consequently, synaptic dopamine concentration in specific brain areas. We identified a patient with 22q11.2 deletion syndrome presenting with cervical and trunk dystonia after paliperidone administration, which persisted even after drug discontinuation. Given the patient’s genetic condition, we hypothesized that the dopaminergic dysfunction had been aggravated by COMT involvement, thus causing dystonia. In line with this hypothesis, we carried out a study on psychiatric patients in chronic treatment with APD to evaluate the distribution of the COMT Val158Met polymorphism and its role in the onset of adverse extrapyramidal symptoms. The study included four patients with dystonia after administration of APDs compared to 17 patients who never presented adverse drug reactions. Our data suggest that the Val/Val and Met/Met polymorphisms of the COMT gene are associated with a protective effect for the development of collateral extrapyramidal symptoms in patients treated with APDs, while the Val/Met genotype could be considered a risk factor for the development of dystonia after APDs administration.

Background: Children with autism spectrum disorder (ASD) display impressive clinical heterogeneity, also involving treatment response. Genetic variants can contribute to explain this large interindividual phenotypic variability.Methods: Array‐CGH (a‐CGH) and whole genome sequencing (WGS) were performed on a multiplex family with two small children diagnosed with ASD at 17 and 18 months of age. Both brothers received the same naturalistic intervention for one year according to the Early Start Denver Model (ESDM), applied by the same therapists, yielding dramatically different treatment outcomes.Results: The older sibling came out of the autism spectrum, while the younger sibling displayed very little, in any, improvement. This boy was subsequently treated applying a structured Early Intensive Behavioral Intervention paired with Augmentative Alternative Communication, which yielded a partial response within another year. The ESDM nonresponsive child carries a novel maternally inherited 65 Kb deletion at chr. 13q32.2 spanning FARP1. Farp1 is a synaptic scaffolding protein, which plays a significant role in neural plasticity.Conclusion: These results represent a paradigmatic example of the heuristic potential of genetic markers in predicting treatment response and possibly in supporting the targeted prescription of specific early intervention approaches.