Intellectual and adaptive functioning in Sturge-Weber Syndrome

The present study examined the intellectual and adaptive functioning in a sample of children and young adults with Sturge-Weber Syndrome (SWS). A total of 80 research participants from a SWS study database underwent full neurological evaluation as part of their participation or concurrent medical care. Twenty-nine of the participants received neuropsychological evaluations. Analyses indicated no significant demographic or neurological differences between those who did and did not receive neuropsychological evaluations. Overall, the neuropsychological evaluation sample displayed significantly lower functioning relative to published normative data across domains of intellectual and adaptive functioning. Thirty-two percent of the sample displayed impaired performance (standard score ≤ 75) in intellectual functioning and 58% displayed impaired performance in adaptive functioning. Hemiparesis status independently predicted overall adaptive functioning while seizure frequency independently predicted overall intellectual functioning. Younger participants displayed significantly higher (more intact) ratings in adaptive functioning compared to older participants, specifically in overall adaptive functioning, motor skills, and community living skills. A composite measure of neurological status (SWS-NRS) incorporating seizure and hemiparesis status effectively distinguished between individuals with impaired or nonimpaired adaptive and intellectual functioning and showed promise as a screening method for identifying individuals with more involved intellectual and/or adaptive needs.     

Anton's syndrome following callosal disconnection

Anosognosia for cortical blindness, also called Anton's syndrome, is a rare neurological disorder usually following bilateral lesions to occipital cortices. Neuropsychological, morphological and functional neuroimaging (SPECT and fMRI) findings are reported in a patient who incurred Anton's syndrome after an ischaemic lesion confined to the left occipital lobe involving the corpus callosum. The present case study suggests that Anton's syndrome may also follow from lesions disconnecting the occipital cortices.     

Language disturbances in a group of participants suffering from Duchenne muscular dystrophy: a pilot study

Results from several studies suggest that the process of language acquisition may be altered in patients suffering from Duchenne Muscular Dystrophy. In this study, a group of 8 male participants with Duchenne Muscular Dystrophy (M age = 16 yr., SD = 4.7) underwent an extensive neuropsychological and language assessment. They also performed a discourse production task. Results showed mild mental retardation associated with a specific deficit in Verbal rather than Performance IQ. At the linguistic assessment, 7 of 8 participants showed moderate to severe difficulties on oral language processing with particularly impaired morphosyntactic competence.     

Consequences of brain tumour resection on emotion recognition

Emotion processing impairments are common in patients undergoing brain surgery for fronto-temporal tumour resection, with potential consequences on social interactions. However, evidence is controversial concerning side and site of lesions causing such deficits. This study investigates visual and auditory emotion recognition in brain tumour patients with the aim of clarifying which lesion sites are related to impairments in emotion processing from different modalities. Thirty-four patients were evaluated, before and after surgery, on facial expression and emotional prosody recognition; voxel-based lesion–symptom mapping (VLSM) analyses were performed on patients’ post-surgery MRI images. Results showed that patients’ performance decreased after surgery in both visual and auditory modalities, but, in general, recovered 3 months after surgery. In facial expression recognition, left brain-damaged patients showed greater post-surgery deterioration than right brain-damaged ones, whose performance specifically decreased for sadness and fear. VLSM analysis revealed two segregated areas in the left hemisphere accounting for post-surgery scores for happy (fronto-temporo-insular region) and surprised (middle frontal gyrus and inferior fronto-occipital fasciculus) facial expressions. Our findings demonstrate that surgical removal of tumours in the fronto-temporal region produces impairment in facial emotion recognition with an overall recovery at 3 months, suggesting a partially different representation of positive and negative emotions in the left and right hemispheres for visually – but not auditory – presented emotions; moreover, we show that deficits in specific expression recognition are associated with discrete lesion locations.     

The first year after diagnosis: psychological impact on people with multiple sclerosis

The impact of multiple sclerosis (MS) diagnosis on newly diagnosed individuals remains so far little explored. Our aim is to outline affective, personality and quality of life (QoL) correlates of MS patients shortly after MS diagnosis. Thirty-eight (22 F and 16 M) newly-diagnosed MS patients (mean interval from diagnosis communication 4.7 ± 3.8 months, range 1–12 months) underwent the Montgomery–Åsberg Depression Rating Scale and a comprehensive psychological evaluation: Beck Depression Inventory-II, State-Trait Anxiety Inventory, Psychophysiological Questionnaire-Revised, Fear Survey Schedule, Maudsley Obsessional-Compulsive Questionnaire, Impact of Event Scale-Revised, Personal Meaning Questionnaire, Problem Solving Inventory and Multiple Sclerosis Quality of Life-54. The Expanded Disability Status Scale was assessed during the neurological examination. Depressive symptomatology, only partially related to disability, was observed in approximately 40% of patients. The prevalent approach to MS diagnosis was one of avoidance in 65.8% of cases. QoL reductions in self-perception and psychological well-being emerged, together with a peculiar perception of change in health that was not related to neurological disability. With regard to personality assessment, depressive personal meaning organization correlates inversely with important QoL measures. Newly-diagnosed patients go through a complex network of psychological changes still in the initial phases immediately after diagnosis. A thorough understanding of these adjusting aspects by the neurologist could be crucial in improving patients’ QoL, participation in relevant disease decisions and adherence to pharmacological therapy.