A Multidisciplinary Telerehabilitation Approach for Supporting Social Interaction in Autism Spectrum Disorder Families: An Italian Digital Platform in Response to COVID-19.

Due to its complexity and high variability in symptomology, autism spectrum disorder (ASD) requires a coordinated and multidisciplinary intervention to better support the different programs over time and to promote social interactions in all contexts of life. Telemedicine can offer a valuable contribution in this regard, providing low-cost and portable applications. In this paper, we presented an Italian project, SUPER, which aimed to foster collaboration and information sharing between ASD families, health services, and schools. SUPER provided a digital platform with several tools that were useful both to enhance general and specific ASD knowledge and to promote personalized programs for children with ASD. We conducted a preliminary user test for the platform with 30 participants (18 therapists and 12 parents of children with ASD) using the system usability scale (SUS). The total mean SUS score (89.2) showed that SUPER is an excellent, usable system. Moreover, we extracted the usability and learnability mean components from the SUS scores, which were 96.1 and 61.7, respectively. Our preliminary results indicate that SUPER is a very user-friendly application and its innovative telemedicine approach could be ahelpful communication and collaboration tool among the different contexts of care for children with ASD.

19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update.

Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients' quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome.

Mindful approach to University education.

A mindful approach to education and training could improve students' reflective capacities and have positive effects on clinical practice because it facilitates a helping relationship. The main aims of this study were to investigate whether participation in a mindful-based University training was associated with increases in mindfulness skills as measured by the 5-Facet M Questionnaire, and to present the Italian validation of the questionnaire. Sixty-seven students from the course Neuro and Psychomotor Therapy were enrolled. They filled in the self-administered 5-Facet M Questionnaire before and 1 month after a mindfulness-based training, focused on role-playing and followed by a feedback group discussion. The Italian version of the 5-Facet M Questionnaire had good psychometric properties. The pre- and post-training analysis showed a significant increase in the subscale 'Observing'. Findings suggest that role-playing and feedback group sessions are valid tools to improve students' mindfulness skills.

Body experiences and psychopathology in idiopathic central precocious and early puberty.

BACKGROUND: Idiopathic central precocious (PP) and early puberty (EP) are frequently associated with psychopathological problems. The aim of this study was to evaluate the quality of body experiences and psychological aspects in girls with PP and EP, as well as the impact of these conditions on their families and the subjects' vulnerability. METHODS: Subjects with PP or EP, aged 7-15 years, were evaluated through the administration of a self-report questionnaire (Children's Depression Inventory, CDI), along with a projective test (Human Figure Drawing Test, HFDT). Their parents filled in a questionnaire about their child's behavior (Child Behavior Checklist 4-18, CBCL). RESULTS: Twenty-nine girls with PP or EP were compared to 55 age-matched healthy girls. The 13.8% of subjects with EP or PP presented depressive traits, and the 48.3% reported suicidal thoughts at the CDI (vs. CONTROLS: P<0.05). At the HFDT, a lower psychological maturity and a more negative self-image, that determine a vulnerability to psychopathology and mental suffering, were observed in those subjects with a past EP or PP, who entered in adolescence. CONCLUSION: EP and PP are complex conditions, which combine somatic symptoms with negative psychological sequelae, including an increased risk for depression and a distorted body perception. The use of projective tests for the assessment of body perception might help the clinician come to a deeper understanding of the therapeutic needs of girls with PP or EP.

Anxiety and Depression in Children With Nonverbal Learning Disabilities, Reading Disabilities, or Typical Development.

The main goal of the present study was to shed further light on the psychological characteristics of children with different learning disability profiles aged between 8 and 11 years, attending from third to sixth grade. Specifically, children with nonverbal learning disabilities (NLD), reading disabilities (RD), or a typical development (TD) were tested. In all, 15 children with NLD, 15 with RD, and 15 with TD were administered self-report questionnaires to assess different types of anxiety and depression symptoms. Both NLD and RD children reported experiencing more generalized and social anxiety than TD, the NLD children reported more severe anxiety about school and separation than TD, and the children with RD had worse depressive symptoms than those with NLD or TD.

Autobiographical memory in adolescent girls with anorexia nervosa.

OBJECTIVE: The aim of the study is to investigate deficits in autobiographical memory in adolescents with anorexia nervosa (AN). METHODS: Sixty female individuals with AN and 60 healthy volunteers with an age range of 11-18 years were enrolled. The Autobiographical Memory Test (AMT), the Eating Disorder Inventory-3, the Toronto Alexithymia Scale-20 for the evaluation of alexithymia and Children's Depression Inventory to evaluate depressive traits were administered. In addition to classical AMT words, we proposed seven experimental cues, chosen from words often used by individuals with eating disorders in daily life. RESULTS: Girls with AN showed a massive overgeneral memory effect. This effect was not related to the presence of depression or alexithymia but increased with the duration of the disorder rather than with its severity. DISCUSSION: The alteration of autobiographical memory manifests in adolescence. Girls with AN showed a dysregulation of both negative and positive emotional experiences that seemed to be influenced by the disease duration.

Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review.

BACKGROUND: Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth retardation is not typical and other major malformations are reported in some cases. CASE PRESENTATION: We described a child with 11q interstitial deletion diagnosed at birth with hypotonia and minor dysmorphisms using standard cytogenetic techniques; array CGH was subsequently performed to define the deletion at a molecular level. CONCLUSIONS: This case gave us the opportunity to attempt a genotype-phenotype correlation reviewing the literature and to describe a rehabilitative program that improved the development perspectives of this child.

Mathematical difficulties in nonverbal learning disability or co-morbid dyscalculia and dyslexia.

The main goal of the present study was to shed further light on the weaknesses of children with different profiles of mathematical difficulties, testing children with nonverbal learning disability (NLD), co-morbid dyscalculia and dyslexia (D&D), or typical development (TD). Sixteen children with NLD, 15 with D&D, and 16 with TD completed tasks derived from Butterworth (2003 ) and divided into: a capacity subscale (i.e., a number-dots comparison task, a number comparison task, and a dots comparison task); and an achievement subscale (i.e., mental calculations and arithmetical fact retrieval). Children with NLD were impaired in the dots comparison task, children with D&D in the mental calculation and arithmetical facts.

A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability.

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified or characterized by conventional banding techniques alone, and they are generally equal in size or smaller than chromosome 20 of the same metaphase spread. Small supernumerary ring chromosomes (sSRCs), a smaller class of marker chromosomes, comprise about 10% of the cases. For various reasons these marker chromosomes have been the most difficult to characterize; although specific syndromes have not yet been defined, 60% of cases are associated with an abnormal phenotype. The chromosomal material involved, the degree and tissutal distribution of mosaicism, and the possible presence of uniparental disomy, are the important factors determining whether or not the ring chromosome will give rise to symptoms. Using conventional and molecular cytogenetics approaches we identified a de novo chromosome 21 sSRC in a child with speech delay and mild intellectual disability. By using aCGH analysis and SNP arrays, we report the presence of two discontinuous regions of chromosome 21 and the paternal origin of the sSRC. A thorough neuropsychiatric evaluation is also provided. Only few other cases of complex discontinuous ring chromosomes have been described in detail.