Spinal neurofibromatosis (SNF) is a related form of neurofibromatosis 1 (NF1), characterized by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all the major peripheral nerve branches) with or without other manifestations of classical NF1. By rigorous application of these criteria to the 98 SNF cases published, we developed: (i) a cohort of 49 SNF patients (21 males and 28 females; aged 4-74 years]: 9 SNF families (21/49), 1 mixed SNF/NF1 family (1/49) and 27 of 49 sporadic SNF patients (including 5 unpublished patients in this report); and (ii) a group of 49 non-SNF patients including: (a) 32 patients with neurofibromas of multiple but not all spinal roots (MNFSR): 4 mixed SNF/MNFSR families (6/32); (b) 14 patients with NF1 manifestations without spinal neurofibromas, belonging to SNF (8/49) or MNFSR families (6/32); (c) 3 patients with neurofibromas in one spinal root. In addition to reduced incidence of café-au-lait spots (67% in SNF vs 56% in MNFSR), other NF1 manifestations were less frequent in either cohort. Molecular testing showed common NF1 gene abnormalities in both groups. The risk of developing SNF vs NF1 was increased for missense mutations [p = 0.0001; odds ratio (OR) = 6.16; confidence interval (CI) = 3.14-13.11], which were more frequent in SNF vs MNFSR (p = 0.0271).

Methods: Review of the existing literature on nevus vascularis mixtus and information on our personal experience on new cases and follow-up of previously reported cases by some of us.Results: The existing literature revealed 4 previous studies including 33 cases with an inferred purely cutaneous trait and 3 cases with a combination of paired vascular twin nevi and brain malformation of the Dyke-Davidoff-Masson type. Our personal experience includes 4 unpublished patients (1 female and 3 males; currently aged 2 to 34 years) seen and followed-up at our Institutions in Italy who had: paired vascular nevi involving either the face (n=2) or the face and parts of the body (n=2); facial asymmetry (n=4); mild to moderate facial dysmorphic features (n=2); developmental delay (n=3); seizures/stroke-like episodes and associated hemiplegia (n=4); muscular hypotrophy (n=2); mild to moderate hemispheric atrophy (n=4); skull osseous hypertrophy (n=4); hyperpneumatisation of the sinuses (n=2); hypoplastic brain vessels (n=4); colpocephaly and malformation of cortical development (n=2). Follow-up data on our previous 2 cases revealed that the vascular abnormalities in the skin and nervous system were stable over years without neurological progression or deterioration.Conclusions: Pathogenically, this complex phenotype suggests that embryonic pairing and somatic

Background: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper-and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e.g., cutis marmorata telangectasica congenita (phacomatosis achromico-melano-marmorata)] or in the context of other skin (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis, PPV) or complex malformation phenotypes (e.g., microcephaly and dwarfism).Methods: (I) Review of the existing literature; and (II) information on our personal experience (clinical, laboratory and imaging data) on new cases with cutis tricolor seen and followed-up at our institutions during years 2010-2016. Results:The existing literature revealed 19 previous studies (35 cases) with pure cutaneous or syndromic cutis tricolor phenomena. Our personal experience included 5 unpublished patients (3 boys; 2 girls; currently aged 2 to 14 years) seen and followed-up at our Institutions in Italy who had: (I) skin manifestations of the cutis tricolor type (N=5); (II) skeletal abnormalities including small skull (n=2), obtuse angle of mandible (n=3), mild to moderate scoliosis (n=3), vertebral defects (n=3), and long bones bowing (n=3); mild psychomotor delay (n=3); epilepsy (n=2); anomalies of the corpus callosum (n=3); and cavum vergae (n =2).Conclusions: This study further confirms and expands the overall phenotype of cutis tricolor. By literature review and personal experience we conclude that the skin abnormalities of the cutis tricolor type are stable over time; the skeletal defects are mild to moderate and do not progress or cause relevant orthopaedic complications; the neurological/behavioural phenotype does not progress and the paroxysmal events (when present) tend to decrease over time; there is a typical facial phenotype in some patients (long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose and anteverted

The COVID-19 pandemic has caused unprecedented changes in the educational system, requiring students to continually switch between distance and in-person learning conditions. Recent studies have revealed that students experienced severe levels of anxiety in the COVID-19 period. Considering the close relationship that has always linked anxiety to mathematics, the present study explores the differences in the anxiety levels of students towards mathematics during distance or in-person school learning. During the second wave of COVID-19, 405 students, recruited from twelve middle schools of Catania province (Italy), completed an online version of the MeMa questionnaire, answering each item twice and imagining themselves to be, respectively, in distance and in-person learning conditions. The items explored generalized school anxiety, learning and evaluation mathematics anxiety, mental states, and the metacognitive awareness associated with mathematical tasks. The results showed a minor state of anxiety experienced during distance learning. However, the students who preferred to learn mathematics in person revealed less mathematics anxiety and better mental states and metacognitive awareness; the same results were found in those who reported higher math marks and who preferred scientific subjects. It seems that math anxiety is not one of the various flaws that are imputed to distance learning. Our findings encourage a reflection on possible interventions to reduce students’ anxiety by working on motivation and dysfunctional beliefs.

Attention Deficit Hyperactivity Disorder (ADHD) is a neurobehavioral disorder that is usually diagnosed in childhood. It is characterized by attention deficits, hyperactivity, and impulsivity leading to significant impairment in academic, occupational, familiar, and social functioning. Most of the literature has been focusing on the impact of this condition on infancy and preadolescence, but little is known on its consequences in adulthood. This narrative review addresses this gap by focusing on the studies regarding the schooling outcomes of this population. After identifying the specific clinical and neuropsychological profile of ADHD in adults, this study analyzes their precise needs for effective learning and presents evidence on their academic and occupational achievements. Pharmacological, educational, and rehabilitative factors predicting a positive scholastic and career success are critically reviewed. Finally, this study focuses on the strategies that can improve the learning processes in adults with ADHD by expanding the analysis on executive functions, metacognition, and emotional dysregulation. Schooling outcomes in adults with ADHD, therefore, are conceptualized as a complex measure depending on several variables, like early pharmacological treatment, educational support, neuropsychological intervention, and targeted strategies for life-long learning.