The adult-onset autosomal dominant leukoencephalopathies are rare disorders. Very few pedigrees have been extensively described and no biochemical or genetic marker has been identified so far. The present study was aimed to characterized an autosomal dominant late-onset leukoencephalopathy occurring in a large Italian kindred. A genealogic method was adopted to ascertain 51 affected individuals among nearly 400 subjects in 8 generations. Medical records were obtained from 11 deceased patients. We personally examined 8 symptomatic and 9 asymptomatic at-risk individuals who underwent a standardized clinical, biochemical, radiological and neurophysiological study. The mean age at onset of the disease was 46.6 years and the mean duration of disease 9.9 years. The clinical picture was characterized by progressive pyramidal and pseudobulbar signs, urinary incontinence and, sometimes, action tremor of the head and/or hands. No relevant mental deterioration was noted. In all the symptomatic and in 1 asymptomatic subject, brain MRI showed marked symmetrical hyperintensity on T₂-weighted images of the white matter of the cerebral hemispheres, with constant sparing of the cerebellum. In these subjects, evoked potentials revealed altered central neural conduction. Nerve conduction velocity, biochemical (including lysosomal enzymatic activities) and biopsy (peripheral tissue specimens) examination were normal. The clinical and neuroradiological data are consistent with an autosomal dominant adult-onset leukoencephalopathy whose features are unusual when compared to those previously reported.

Background.: The presence of subthreshold psychotic symptoms in adolescents with eating disorders is poorly described. This study provides a detailed characterization of adolescents affected by eating disorders in the absence or presence of subthreshold psychotic symptoms, taking into account a wide set of sociodemographic, psychological, and clinical variables. Methods.: Ninety-four adolescents diagnosed with eating disorders were interviewed, focusing on clinical anamnesis and sociodemographic data collection. The Comprehensive Assessment of At-Risk Mental States (CAARMS) was used to assess the presence (HR+) or absence (HR−) of subthreshold psychosis. The clinicians completed a questionnaire on eating disorders severity, whereas patients provided self-report measures of global social functioning and psychological symptoms associated with eating disorders. Results.: Attenuated psychotic symptoms were highly frequent (84% of subjects). HR+ patients experienced more frequently purging behaviors and dysmorphophobia and received a greater amount of antipsychotic drugs. Compared to HR− counterparts, HR+ patients reported higher eating disorders severity and psychological symptoms (i.e., ineffectiveness, interpersonal and affective problems) associated with eating disorders. Finally, a significant correlation between global social functioning and eating disorders severity emerged only for HR− subjects. Conclusions.: These descriptive data are warranted to identify a potential psychotic core in eating disorders, mainly concerning body image and weight as well as specific psychological features. The availability of reliable and valid markers of risk can further increase our capacity to detect the early emergence of psychosis in adolescents with eating disorders, whose outcome might be worsened by the presence of psychotic symptoms.

Purpose: The purpose of this study is to better understand the characteristics of the language-related skills of bilingual children with specific learning disorders (SLD). The aim is achieved by analyzing language-related skills in a sample of bilingual (Italian plus another language) and Italian monolingual children, with and without SLD.Patients and methods: A total of 72 minors aged between 9 and 11 were recruited and divided into four groups: 18 Italian monolingual children with SLD, 18 bilingual children with SLD, 18 Italian monolingual children without SLD, and 18 bilingual children without SLD. Each child underwent tests to evaluate different aspects of language skills: lexical and grammar, metalanguage and executive functions.Results: With regard to lexical and grammatical skills, the conditions of SLD and bilingualism both impact naming in terms of total number of errors for words with low frequency of use, while the condition of SLD has an effect on semantic errors for words with low frequency of use. The condition of bilingualism impacts on the total errors for words with high frequency of use and on circumlocution-type errors for words with low frequency of use. There were significant effects of bilingualism and SLD on the metalinguistic test for understanding implicit meaning, and an impact of SLD on phonological awareness was also found.Conclusion: The results suggest that both SLD and bilingualism have an effect on some lexical skills, in particular for words with low frequency of use. Both conditions, bilingualism and SLD, seem to impact on metalinguistic abilities that depend on lexical knowledge. These findings reinforce the importance of improving understanding of the neuropsychological profile of bilingual children with SLD.

Background/Objectives: The co-morbidity between neurodevelopmental tics and functional tic-like behaviors (FTBs) in patients with Tourette syndrome (TS) is relatively under-investigated. The demographic and clinical characteristics of a large sample of patients with TS who presented with co-morbid FTBs (functional overlay) were assessed to raise awareness of this complex clinical presentation and to shed light on the differential diagnosis between the two conditions. Methods: We analyzed the clinical data of 63 patients (44 females, mean age 24 years, range 13–40) with pre-existing TS who (sub)acutely developed co-morbid FTBs (TS + FTBs) after the onset of the COVID-19 pandemic and compared them with 63 age- and gender-matched controls with TS (neurodevelopmental tics only). The diagnosis of co-morbid FTBs was validated by the European Society for the Study of Tourette Syndrome (ESSTS) criteria. Results: Complex vocal tics (p < 0.001), including coprolalia (p = 0.002), and self-injurious behaviors (p < 0.001), often as part of tic attacks (p < 0.001), were confirmed to be more commonly reported by the group of patients with TS + FTBs, who were also more likely to present with anxiety (p < 0.001) and other functional neurological symptoms (p < 0.001) compared to patients with TS. Conclusions: Patients with TS and co-morbid FTBs can pose significant diagnostic and treatment challenges. By systematically applying ESSTS criteria, we confirmed specific red flags for the diagnosis of functional overlay in patients with TS. The correct identification of this composite clinical phenotype plays a key role in preventing the misdiagnosis of treatment-resistant TS and implementing tailored treatment interventions.