Exploring patterns of unwanted behaviours in adults with Prader-Willi syndrome.

BACKGROUND: Obsessive-compulsive (O-C) traits, and excessive food intake are well known behavioural manifestations among individuals with Prader-Willi Syndrome (PWS). Other unwanted behaviours are also frequently observed, but they need a more specific investigation, especially in the adult population. METHODS: The behaviour of 31 PWS adults was investigated via the Symptom Checklist-90-Revised (SCL-90-R), the Yale-Brown Obsessive Compulsive Scale Symptom Checklist (Y-BOCS-SC), and the Prader-Willi Behavioural Checklist (PBC). The PBC is a quick screening questionnaire prompted specifically for the investigation on adults with PWS. RESULTS: Statistical clustering revealed two patterns of unwanted behaviours from the PBC. Behaviours belonging to the first cluster (e.g., Excessive food intake, Skin picking) appear to be linked to the usual phenotypic manifestation of PWS. By contrast, many other behaviours (e.g., some O-C symptoms and aggressive actions) could show a relationship also to individual psychopathologies. CONCLUSIONS: Both internal (Anxiety and Depression) and external (Hostility) difficulties in managing impulses should account for individually distinct behaviours in adults with PWS.

The predictive role of fatigue and neuropsychological components on functional outcomes in COVID-19 after a multidisciplinary rehabilitation program.

OBJECTIVE: To verify the impact of altered cognitive functioning and higher levels of mental fatigue, both reported after coronavirus disease 2019 (COVID-19), on rehabilitation treatment outcomes. METHODS: In this real-practice retrospective pre-post intervention cohort study, cognitive functioning, measured through standardized neuropsychological measures, and individual levels of fatigue, depression and anxiety symptoms, were evaluated at admission to a rehabilitation program in individuals who had been hospitalized for COVID-19. The rehabilitation program effectiveness was measured through the Functional Independence Measure. RESULTS: Among the patient sample (n = 66), 87.88% reported experiencing high levels of fatigue at admission, while 16.67% reported depressive symptoms, and 22.73% reported anxiety symptoms. After rehabilitation, the sample displayed a significant decrease in the level of disability, in both the motor and cognitive subscales. Neuropsychological and psychological functioning did not play a predictive role. The 45 patients who received mechanical ventilation during intensive care, representing 68.18% of the sample, benefited more from rehabilitation treatment. CONCLUSIONS: The results support the importance of an early rehabilitation program after COVID-19 infection, independent of the initial neuropsychological and psychological functioning. Respiratory assistance may represent a crucial factor for short-term neuropsychological disease after-effects. Future studies on the long-term neuropsychological effect of COVID-19 infection on individual levels of disability are necessary.

Evaluation of the predictive factors of the short-term effects of a multidisciplinary rehabilitation in COVID-19 survivors.

OBJECTIVE: Functional impairments after coronavirus disease 2019 (COVID-19) constitute a major concern in rehabilitative settings; however, evidence assessing the efficacy of rehabilitation programs is lacking. The aim of this study was to verify the clinical characteristics that may represent useful predictors of the short-term effectiveness of multidisciplinary rehabilitation. METHODS: In this real-practice retrospective pre-post intervention cohort study, the short-term effectiveness of a multidisciplinary patient-tailored rehabilitation program was assessed through normalized variations in the Functional Independence Measure in post-acute care patients who had overcome severe COVID-19. Biochemical markers, motor and nutritional characteristics, and the level of comorbidity were evaluated as predictors of functional outcome. Length of stay in the rehabilitation ward was also considered. RESULTS: Following rehabilitation, all participants (n = 53) reported a significant decrease in the level of disability in both motor and cognitive functioning. However, neither motor and nutritional characteristics nor comorbidities played a significant role in predicting the overall positive change registered after rehabilitation. CONCLUSIONS: The results support the existing sparse evidence addressing the importance of an early rehabilitation program for patients who received intensive care and post-acute care due to severe COVID-19.

Genetics and mathematics: evidence from Prader-Willi syndrome.

Mathematical abilities were tested in people with Prader-Willi syndrome (PWS), using a series of basic mathematical tasks for which normative data are available. The difference between the deletion and the disomy variants of this condition was explored. While a wide phenotypic variation was found, some basic findings emerge clearly. As expected from previous literature, deletion and disomy participants were found to differ in their degree of impairment, with disomy being overall the most spared condition. However, the tasks selectively spared in the disomy condition are not necessarily the easiest ones and those that discriminate less the PWS group from controls. It rather seems that disomy patients are spared, with respect to deletion, in tasks entailing transcoding and comparison of numbers in the Arabic code. Overall a particular difficulty was detected in reliably performing parity judgments. This task has been shown to be very frequently spared after a brain injury, even in severe aphasic conditions. The most interesting result is the sparing in analog number scale, whereby PWS seem, overall, to outperform controls. This finding may help in understanding previously reported, surprising results about cognitive skills in PWS. Elevated performances in PWS may result from life-long hyper-reliance on one visuo-spatial system in presence of underdevelopment of the other.

A dedicated neural mechanism for vowel selection: a case of relative vowel deficit sparing the number lexicon.

We report the case of an Italian speaker (GBC), with classical Wernicke's aphasia following a vascular lesion in the posterior middle temporal region. GBC exhibited a selective deficit in spoken language production affecting vowels more than consonants. In reading from a newspaper, GBC substituted vowels for other vowels from the Italian inventory at a rate of 7/1 compared to consonants. No effects of frequency or grammatical class were found. Vowel errors could also not be accounted for by morphological or known phonological processes. Production of number words, in contrast, was free from phonological errors. While GBC has intact representations of Italian vowels and consonants, his data argue for a separate selection mechanism for vowels that is dissociable from that used for consonants. This case provides neuropsychological evidence for models of word production that distinguish between the abstract phonological properties of a word (e.g., sequencing of phonemic slots, or "CV skeleton") and a separate representation for the specific sounds (melody).

Is math lateralised on the same side as language? Right hemisphere aphasia and mathematical abilities.

The main purpose of the present study was to learn how mathematical abilities are located and develop in the brain with respect to language. Mathematical abilities were assessed in six right-handed patients affected by aphasia following a lesion to their non-dominant hemisphere (crossed aphasia) and in two left-handed aphasics with a right-sided lesion. Acalculia, although in different degrees, was found in all cases. The type of acalculia depended on the type of aphasia, following patterns that have been previously observed in the most common aphasias resulting from left hemisphere lesions. No sign of right hemisphere or spatial acalculia (acalculia in left lateralised right-handed subjects) was detected. These results suggest that, as a rule, language and calculation share the same hemisphere. A primitive computational mechanism capable of recursion may be the precursor of both functions.

Italian version of the Parkinson Neuropsychometric Dementia Assessment (PANDA): a useful instrument to detect cognitive impairments in Parkinson's Disease.

BACKGROUND: Parkinson's disease (PD) is frequently characterized by cognitive and affective dysfunctions. The "Parkinson Neuropsychometric Dementia Assessment" (PANDA) is a screening tool designed for the early detection of mild cognitive impairment as well as dementia in PD. The PANDA is already validated in German and in French. OBJECTIVE: The aim of the present work was to provide normative data for the Italian-speaking population, Swiss regions included; moreover, the effectiveness of the PANDA compared to the Mini Mental State Examination (MMSE) was tested. METHODS: One-hundred and eleven PD patients with and without cognitive impairment and one-hundred and three matched healthy subjects participated at this study; all patients underwent an extensive neuropsychological evaluation. RESULTS: A PANDA total score of 13 appeared to be the most fitting cut-off with a sensitivity of 96.6% and a specificity of 82.2%; with the MMSE, the same value of sensitivity but with a specificity of 72,4% was reached only by adopting a cut-off of 28. Moreover, a PANDA range of 13-17 appeared to be suggestive for possible cognitive disturbance. CONCLUSIONS: The present work provides evidence for the effectiveness of the PANDA in evaluating cognitive deficits also in PD Italian-speaking patients, even when their pathological degree is still initial or very mild.

When two and too don't go together: a selective phonological deficit sparing number words.

We report the case of an Italian speaker (GBC) with classical Wernicke's aphasia syndrome following a vascular lesion in the left posterior middle temporal region. GBC exhibited a selective phonological deficit in spoken language production (repetition and reading) which affected all word classes irrespective of grammatical class, frequency, and length. GBC's production of number words, in contrast, was error free. The specific pattern of phonological errors on non-number words allows us to attribute the locus of impairment at the level of phonological form retrieval of a correctly selected lexical entry. These data support the claim that number words are represented and processed differently from other word categories in language production.