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Maurizio Bejor,1 Francesca Chiara Ramella,1 Elena Dalla Toffola,1 Mario Comelli,2 Matteo Chiappedi31University of Pavia, Department of Surgical, Resuscitative, Rehabilitative and Transplant Sciences, Pavia, Italy; 2University of Pavia, Department of Brain Sciences, Medical Statistics Section, Pavia, Italy; 3Don Carlo Gnocchi ONLUS Foundation, Milan, ItalyBackground: Patients with comorbidities are becoming more and more common in Italian rehabilitative wards. These comorbidities are considered a major problem for inpatient rehabilitation, due to the fact that they cause longer lengths of stay, higher costs, and lower functional results.Methods: To investigate the possible relationships between comorbidity, functional impairment, age, and type of discharge in patients hospitalized in postacute rehabilitation facilities, we planned an observational study. A total of 178 consecutive inpatients (average age: 78 years [range: 39–99]) from postacute rehabilitation facilities were recruited. Primary diagnosis, comorbidity rating (Cumulative Illness Rating Scale – Geriatric version, CIRS-G) and functional impairment score (Functional Independence Measure, FIM™) were evaluated at admission. The FIM™ rating was also assessed at hospital discharge.Results: A total of 178 of the 199 enrolled patients completed the rehabilitation treatment (89.4%). The average length of stay was 46 ± 24 days. CIRS-G showed an average comorbidity score for each patient of 4.45 ± 1.69. The average FIM™ rating was 79 ± 24.88 at admission, and 91.9 ± 25.7 at discharge. Diagnosis at admission (grouped according to the International Classification of Diseases 9-CM) seemed to correlate with functional results, since lower rehabilitative efficiency was obtained for patients who had a history of stroke.Conclusion: The number and type of comorbidities (CIRS-G) in rehabilitation inpatients do not seem to affect functional outcomes of treatment. The determining factor for a lower level of functional recovery seems to be the diagnosis at admission.Keywords: diagnosis, rehabilitation, inpatients, outcome

Matteo Chiappedi,1 Alessio Toraldo,2 Silvia Mandrini,3 Federica Scarpina,2 Melissa Aquino,2 Francesca Giulia Magnani,2 Maurizio Bejor31Don Carlo Gnocchi ONLUS Foundation, Milan, Italy; 2University of Pavia, Department of Psychology, Pavia, Italy; 3University of Pavia, Department of Surgical, Resuscitative, Rehabilitative and Transplant Sciences, Pavia, ItalyIntroduction: Visual-motor skills are the basis for a great number of daily activities. To define a correct rehabilitation program for neurological patients who have impairment in these skills, there is a need for simple and cost-effective tools to determine which of the visual-motor system levels of organization are compromised by neurological lesions. In their 1995 book, The Visual Brain in Action (Oxford: Oxford University Press), AD Milner and MA Goodale proposed the existence of two pathways for the processing of visual information, the “ventral stream” and “dorsal stream,” that interact in movement planning and programming. Beginning with this model, our study aimed to validate a method to quantify the role of the ventral and dorsal streams in perceptual and visual-motor skills.Subjects and methods: Nineteen right-handed healthy subjects (mean age 22.8 years ± 3.18) with normal or corrected-to-normal vision were recruited. We proposed that a delayed pointing task, a distance reproduction task, and a delayed anti-pointing task could be used to assess the ventral stream, while the dorsal stream could be evaluated with a grasping task and an immediate pointing task. Performance was recorded and processed with the video-analysis software Dartfish ProSuite.Results: Results showed the expected pattern of predominance of attention for the superior left visual field, predominance of the flexor tone in proximal peri-personal space arm movements, tendency toward overestimation of short distances, and underestimation of long distances.Conclusion: We believe that our method is advantageous as it is simple and easily transported, but needs further testing in neurologically compromised patients.Keywords: dorsal stream, ventral stream, visual-motor skills, rehabilitation, neurological disorders

Living donor kidney transplantation (LDKT) currently represents the treatment of choice for patients with end-stage renal failure. LDKT is a serious event with profound psychological, interpersonal, familial, and social implications. Over the last few years, there has been an exponential growth in living donation programs involving genetically and emotionally related donors, as well as people who donate to an unrelated and unknown subject. The implementation of paired exchange programs, Samaritan donation, and preemptive transplantation raise further ethical issues, which are inextricably linked to the unique psychosocial context of both the donor and the recipient. The present narrative review aims to provide an update on the main ethical challenges related to LDKT. We conducted a comprehensive literature search in PubMed/Medline. The results of the most relevant studies were narratively synthesized from a psychosocial perspective around the four principles of biomedical ethics: autonomy, beneficence, non-maleficence, and justice. Finally, we discussed the potential future directions to provide an effective, patient-centered, and ethical psychosocial assessment and follow-up of living donors and recipients that underwent LDKT.

Autism Spectrum disorders (ASD) are diagnosed more often in males than in females, by a ratio of about 3:1; this is likely to be due to a difference in risk burden between the sexes and/or to "compensatory skills" in females, that may delay the diagnosis of ASD. Identifying specific risk factors for ASD in females may be important in facilitating early diagnosis. We investigated whether HLA- class I: -A, -B, -C and class II -DRB1 alleles, which have been suggested to play a role in the development of ASD, can be considered as sex-related risk/protective markers towards the ASD. We performed HLA allele genotyping in 178 Italian children with ASD, 94 healthy siblings, and their parents. HLA allele distribution was compared between children with ASD, sex-matched healthy siblings, and a cohort of healthy controls (HC) enrolled in the Italian bone marrow donor registry. Allele transmission from parents to children with ASD and their siblings was also assessed. Our findings suggest that HLA-A*02 , B*38 , and C*12 alleles are more frequently carried by females with ASD compared to both HC and healthy female siblings, indicating these alleles as potential risk factors for ASD in females. Conversely, the HLA-A*03 allele was more commonly transmitted to healthy female siblings, suggesting it might have a protective effect. Additionally, the HLA-B*44 allele was found to be more prevalent in boys with ASD, indicating it is a potential risk factor for male patients. This is the first Italian study of sex-related HLA association with ASD. If confirmed, these results could facilitate early ASD diagnosis in female patients, allowing earlier interventions, which are crucial in the management of neurodevelopmental disorders.

While there is substantial agreement on the diagnostic criteria for autism spectrum disorder, it is also acknowledged that it has a broad range of clinical presentations. This can complicate the diagnostic process and aggravate the choice of the most suitable rehabilitative strategy for each child. Attentional difficulties are among the most frequently reported comorbidities in autism spectrum disorder. We investigated the role of SNAP-25 polymorphisms. Synaptosome-associated protein 25 (SNAP25) is a presynaptic membrane-binding protein; it plays a crucial role in neurotransmission and has already been studied in numerous psychiatric disorders. It was also seen to be associated with hyperactivity in children with autism spectrum disorder. We collected clinical, behavioral and neuropsychological data on 41 children with a diagnosis of autism spectrum disorder, and then genotyped them for five single-nucleotide polymorphisms of SNAP-25. Participants were divided into two groups according to the Autism Diagnostic Observation Schedule (ADOS-2) Severity Score. In the group with the highest severity score, we found significant associations of clinical data with polymorphism rs363050 (A/G): children with the GG genotype had lower total IQ, more severe autistic functioning and more attentional difficulties. Our research could be the starting point for outlining a possible endophenotype among patients with autism spectrum disorder who are clinically characterized by severe autistic functioning and significant attentional difficulties.

Background: Literature states that parents of individuals affected by autism spectrum disorder (ASD) can present social and cognitive deficits, restricted behavior patterns and psychiatric difficulties, without meeting standard diagnostic criteria for ASD ("broader autism phenotype"). We explored the relationship between parenting of children affected by ASD and levels of empathy and lack of emotion understanding (alexithymia)., Methods: We enlisted 58 families in which a child was affected by ASD. Parents' empathy and alexithymia were respectively assessed by means of Empathy Quotient (EQ) and Toronto Alexithymia Scale (TAS-20). Additionally, we included the assessment of the perception of children's behavior through the Child Behavior Checklist (CBCL)., Results: Our findings suggest that most parents have normal empathy and do not show significant alexithymia. We found lower EQ and higher TAS-20 scores being more frequent in fathers. Moreover, each parent's empathy degree negatively relates to his/her alexithymia and vice versa, showing that these two features are inversely correlated. Our study unveiled a strong correlation between maternal empathy and alexithymia and child's externalizing problems, as reported by mothers., Conclusions: Our data reveal differences in mothers and fathers' empathy and alexithymia profiles and confirm the importance of considering both parents' points of view either in the diagnostic and the therapeutic interventions. Parental empathy and alexithymia levels not only play a fundamental role in the evaluation of child's difficulties but can also influence the development of a good relationship with the child for what concerns affective resonance.

Autism spectrum disorders (ASD) can present with different onset and timing of symptom development; children may manifest symptoms early in their first year of life, i.e., early onset (EO-ASD), or may lose already achieved skills during their second year of life, thus showing a regressive-type onset (RO-ASD). It is still controversial whether regression represents a neurobiological subtype of ASD, resulting from distinct genetic and environmental causes. We focused this study on the 25 kD synaptosomal-associated protein ( SNAP-25 ) gene involved in both post-synaptic formation and adhesion and considered a key player in the pathogenesis of ASD. To this end, four single nucleotide polymorphisms (SNPs) of the SNAP-25 gene, rs363050, rs363039, rs363043, and rs1051312, already known to be involved in neurodevelopmental and psychiatric disorders, were analyzed in a cohort of 69 children with EO-ASD and 58 children with RO-ASD. Both the rs363039 G allele and GG genotype were significantly more frequently carried by patients with EO-ASD than those with RO-ASD and healthy controls (HC). On the contrary, the rs1051312 T allele and TT genotype were more frequent in individuals with RO-ASD than those with EO-ASD and HC. Thus, two different SNAP-25 alleles/genotypes seem to discriminate between EO-ASD and RO-ASD. Notably, rs1051312 is located in the 3' untranslated region (UTR) of the gene and is the target of microRNA (miRNA) regulation, suggesting a possible epigenetic role in the onset of regressive autism. These SNPs, by discriminating two different onset patterns, may represent diagnostic biomarkers of ASD and may provide insight into the different biological mechanisms towards the development of better tailored therapeutic and rehabilitative approaches.

Background: Many studies have already shown that individuals suffering from autism spectrum disorders (ASD) present low levels of empathy: in fact, reduced emotional reciprocity is considered a clinically significant indicator of autistic functioning. We decided to investigate the role of empathy in determining pathological behaviors in children affected by ASD considering parents' point of view; and to evaluate the presence of differences between mothers and fathers' perception of their child's empathy and behaviors., Methods: We compared empathy levels in a sample of 58 patients with ASD as reported by a parent-filled questionnaire with the results of a global evaluation conducted by means of play observations, clinician-rated scales, a semistructured interview with both caregivers and parent-filled questionnaires., Results: The majority of ASD patients have low levels of empathy according to both parents' points of view; noteworthy, mothers and fathers are highly concordant in this respect. Children's levels of empathy negatively correlate with many behavioral problems, both internalizing and externalizing. Furthermore, we found that mothers tend to perceive more internalizing problems, while fathers are more willing to notice externalizing ones., Conclusions: Involving both caregivers in children's diagnostic assessment could deepen patient's evaluation and finally the therapeutic results. Mothers and fathers seem to be highly consistent in describing the psychological characteristics of their child, but not in respect to symptoms.

Introduction: Autism spectrum disorder (ASD) is accompanied by complex immune alterations and inflammation, and the possible role played by Natural Killer (NK) in such alterations is only barely understood., Methods: To address this question we analysed activating and inhibitory NK receptors, as well as NK cells phenotype and function in a group of mothers of children who developed ASD (ASD-MO; N=24) comparing results to those obtained in mothers of healthy children who did not develop (HC-MO; N=25)., Results: Results showed that in ASD-MO compared to HC-MO: 1) NK cells expressing the inhibitory receptor ILT2 are significantly decreased; 2) the activating HLA-G14bp+ polymorphism is more frequently observed and is correlated with the decrease of ILT2-expressing cells; 3) the CD56 bright and CD56 dim NK subsets are increased; 4) IFNγ and TNF production is reduced; and 5) perforin- and granzymes-releasing NK cells are increased even in unstimulated conditions and could not be upregulated by mitogenic stimulation., Discussion: Results herein reinforce the hypothesis that ASD relatives present traits similar to, but not as severe as the defining features of ASD (Autism endophenotype) and identify a role for NK cells impairment in generating the inflammatory milieu that is observed in ASD., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Saresella, Marventano, Piancone, Bolognesi, Hernis, Zanzottera, La Rosa, Agliardi, Giraldo, Chiappedi, Guerini and Clerici.)