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Sara Calderoni,1,* Pamela Fantozzi,1,* Giulia Balboni,2 Veronica Pagni,1 Emilio Franzoni,3 Fabio Apicella,1 Antonio Narzisi,1 Sandra Maestro,1 Filippo Muratori1,4 1IRCCS Stella Maris Foundation, 2Department of Surgery, Medical, Molecular and Critical Area Pathology, University of Pisa, Pisa, Italy; 3Child Neuropsychiatric Unit, Women, Children and Adolescents Health Department, University Hospital S Orsola-Malpighi, Bologna, Italy; 4Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy *These authors contributed equally to this work Background: Although previous studies indicated a positive association between restrictive anorexia-nervosa (AN-R) and autistic traits, the potential interference of psychiatric internalizing comorbidity on this association is not yet fully investigated.Materials and methods: The aim of this study was to explore autistic traits and internalizing psychopathology in adolescents (age range: 11.7–17.2 years) with AN-R. Twenty-five patients referred to two tertiary-care hospitals were compared to a large control group (N=170) with no differences in age and sex. AN-R patients and controls filled out instruments assessing autistic traits (autism spectrum quotient [AQ]), psychopathology (youth self-report [YSR] 11–18), and eating patterns (eating attitude test [EAT]). In order to disentangle the possible mediating role of internalizing symptoms on autistic traits, two separate control groups (called True and False healthy control, both composed of 25 eating-problem-free participants) were derived from the whole control group on the basis of the presence or absence of internalizing problems in the YSR.Results: AN-R patients scored significantly higher on AQ compared to the whole control group and to controls without internalizing problems (True HC), but these differences disappeared when only controls with internalizing problems (False HC) were considered.Conclusion: Autistic traits in AN-R individuals may have been overestimated and may partly be due to comorbid internalizing symptoms in investigated patients. Keywords: anorexia nervosa-restricting type, youth self-report, evolutive age, autism spectrum quotient

Emilio Franzoni,1 Stefano Gualandi,1 Vincenzo Caretti,2 Adriano Schimmenti,3 Elena Di Pietro,1 Gaetano Pellegrini,1 Giuseppe Craparo,3 Arianna Franchi,1 Alberto Verrotti,4 Alessandro Pellicciari11Child Neuropsychiatry Unit, University of Bologna, Italy; 2Department of Psychology, University of Palermo, Italy; 3Faculty of Human and Social Sciences, Kore University of Enna, Enna, Italy; 4Department of Pediatrics, University of Chieti, ItalyBackground: The connections between eating disorders (EDs) and alexithymia have not been fully clarified. This study aims to define alexithymia's connections with shame, trauma, dissociation, and body image disorders.Methods: We administered the Dissociative Experience Scale-II, Trauma Symptom Inventory, Experience of Shame Scale, Toronto Alexithymia Scale-20, and Body Uneasiness Test questionnaires to 143 ED subjects. Extensive statistical analyses were performed.Results: The subjects showed higher scores on alexithymia, shame, dissociation, and traumatic feelings scales than the nonclinical population. These aspects are linked with each other in a statistically significant way. Partial correlations highlighted that feelings of shame are correlated to body dissatisfaction, irrespective of trauma or depressed mood. Multiple regression analysis demonstrates that shame (anorexic patients) and perceived traumatic conditions (bulimic and ED not otherwise specified) are associated with adverse image disorders.Conclusion: Shame seems to hold a central role in the perception of an adverse self-image. Alexithymia may be interpreted as being a consequence of previous unelaborated traumatic experiences and feelings of shame, and it could therefore be conceptualized as a maladaptive–reactive construct.Keywords: eating disorders, trauma, alexithymia, shame, body image

BACKGROUND/OBJECTIVES: Restrictive Anorexia nervosa (ANR) is an eating disorder (ED) characterized by a low bone mineral content (BMC) and by an alteration in body composition (reduction and abnormal distribution of fat mass--FM and lean mass--LM). The aim of our study was to address whether bone and body composition changes could be influenced by hormonal status and sport in female adolescents with restrictive anorexia nervosa-ANR. SUBJECTS/METHODS: Prospective study on 79 adolescents with ANR submitted to Dual Energy X-Ray Absorptiometry--DXA at baseline-T0 and after 12 months-T12. Among the 46/79-58.2% patients that completed the study, we evaluated total and regional FM and LM%, as well as lumbar bone mineral density (BMD) and Z-score, linking them to clinical variables: menarche/amenorrhea/ hormonal therapy and physical activity. RESULTS: At T0: body mass index (BMI) = 16.4 ± 1.4 kg/[m.sup.2] with low levels of FM% (21.7 ± 5.7) low BMC in 12/46-26.0% (mean Z-score: - 1.21 ±1.27, with higher values related to physical activity--P = 0.001). At T12: a significant increase in BMI--P = 0.001, with LM reduction and FM increase (more evident in the trunk--P CONCLUSIONS: After 1 year, weight recovery was not associated with a reestablishment of bone values; by contrast, it was associated with an increase and a distortion in FM distribution, more evident in trunk region (potential and adjunctive risk factor for the relapse of the psychiatric condition). The complexity of these clinical findings suggested DXA, a low-dose and low-cost technique, in long-term monitoring of ANR patients. European Journal of Clinical Nutrition (2014) 68, 247-252; doi: 10.1038/ejcn.2013.254; published online 18 December 2013 Keywords: dual-energy X-Ray absorptiometry; anorexia nervosa; pathologic bone demineralization; body composition, INTRODUCTION Restrictive Anorexia Nervosa (ANR) is a clinical mental disorder defined as abnormal eating behaviors that can be diagnosed only by strict criteria. (1) Eating disorders (ED) are behavioral syndromes [...]

Abstract Background Neurofibromatosis type 1 is a genetic disorder associated with cognitive deficits, learning disabilities and behavioral problems. These domains appear to have a still controversial debated association with local areas of T2-hyperintensities on MRI images, called unidentified bright objects (UBOs). Methods A cohort of 36 children (aged 7–11 years) included consecutively, underwent neuropsychological and behavioral assessment to determine their cognitive and neuropsychological profile, and the frequency of specific learning disabilities. MRI examination was used to determine the impact of UBOs' presence, number, and location on the cognitive, neuropsychological and behavioral profile, and also the presence of optic glioma. Results The mean full intelligence quotient was 104.6; only one child had mild intellectual disability. Forty one percent of children had a diagnosis of specific learning disabilities and reading was mainly involved. Twenty per cent had attention problems. All children had normal scores in visuo-motor and visuo-perceptual tests. UBOs were present in 94.0% of the MRI examinations. Two children had optic glioma. Children with UBOs in a specific location and children with UBOs elsewhere were statistically compared, no one of the location seemed to have an impact on general cognition measured with full intelligence quotient. The thalamus was associated with problems in calculation and striatum with behavioral problems. An inverse relationship between the number of UBOs and the full intelligence quotient was present, but without a statistical significance. Conclusions In this study, the specific location of UBOs did not seem to influence the general cognitive profile and also the relationship between their number and the full intelligence quotient was not significant; these results are still controversial in literature. Finally, the presence of UBOs in the thalamus and striatum may represent a neuroradiological pattern that influences performances in calculation and behavior respectively in children with Neurofibromatosis type 1. Highlights • Children with neurofibromatosis type 1 have a normal cognitive function and high frequency of Learning Disabilities. • Attention deficits are manly involved in neuropsychological test and visuo-motor tasks aren’t compromised in all children. • Parent’s reported especially attention and/or hyperactivity and internalizing problems. • UBOs are present in most of children and their number did not seem to have a relationship with full intelligence quotient. • The distribution of UBOs in thalamus and striatum may influence calculation skills and behavioral profile respectively. [ABSTRACT FROM AUTHOR]

This paper reports on the diagnostic investigations on the bronze panel in the Church of San Moisè in Venice (Italy), aiming at the identification of materials and causes of corrosion. Both the bulk metal and surface layers were investigated by a wide range of techniques: alloy composition and microstructure were determined by VP-SEM/EDS, the corrosion products by Raman spectroscopy and XRD. The organic compounds were analysed by pyrolysis gas chromatography mass spectrometry (Py-GC-MS). The adjacent mortars were analysed in terms of mineralogical composition and soluble salts content, in order to highlight their role in the degradation processes at the contact areas between the masonry and the bronze panel. The alloy is a quaternary bronze (Cu-Sn-Zn-Pb): high-relief figures were cast separately then mechanically joined to the panel. Traces of the clay core were detected in the back of the panel. The bronze surface was artificially patinated by potassium sulphide. The organic protective layer consisted of stearin and paraffinic wax. However, siccative oil was detected at the interface with the metal, likely corresponding to the original protective treatment. Also pine resin traces were detected. The corrosion products mainly consisted of basic copper chlorides (paratacamite, atacamite) and mixed copper/sodium carbonates (chalconatronite), deriving from the interaction with mortar. [ABSTRACT FROM AUTHOR]

Aim To describe a spectrum of intracerebral large artery disease in Aicardi-Goutières syndrome (AGS) associated with mutations in the AGS5 gene SAMHD1. Method We used clinical and radiological description and molecular analysis. Results Five individuals (three males, two females) were identified as having biallelic mutations in SAMHD1 and a cerebral arteriopathy in association with peripheral vessel involvement resulting in chilblains and ischaemic ulceration. The cerebral vasculopathy was primarily occlusive in three patients (with terminal carotid occlusion and basal collaterals reminiscent of moyamoya syndrome) and aneurysmal in two. Three of the five patients experienced intracerebral haemorrhage, which was fatal in two individuals. Post-mortem examination of one patient suggested that the arteriopathy was inflammatory in origin. Interpretation Mutations in SAMHD1 are associated with a cerebral vasculopathy which is likely to have an inflammatory aetiology. A similar disease has not been observed in patients with mutations in AGS1 to AGS4, suggesting a particular role for SAMHD1 in vascular homeostasis. Our report raises important questions about the management of patients with mutations in SAMHD1. [ABSTRACT FROM AUTHOR]

Summary: To assess the efficacy, tolerability and safety of Levetiracetam (LEV) therapy, we identified 21 (15 male; 6 female) patients with a history of benign epilepsy with centrotemporal spikes (BECTS), with and without secondarily generalization in children and adolescents aged between 5.0 and 12.1 years. LEV was administered as a first drug (number of patients =9) or converted after previous treatment with other AEDs (number of patients =12). The patients were subdivided into two groups: “newly diagnosed” patients and “converted” patients. Patients were followed up for 12 months and all patients were able to continue on LEV treatment. At the end of follow-up (12 months), all patients were seizure free or showed a reduction of seizures >50%. LEV dosage ranged from 1000 to 2500mg/daily. Overall, 100% of patients completed the 12 months study, without any important side effect. Somnolence and irritability occurred in two (9.5%) patients. Our results support findings that LEV monotherapy is effective and well tolerated in children with BECTS. Prospective, large, long-term double-blind studies are needed to confirm these findings. [Copyright &y& Elsevier]

A patient with Angelman syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q11: q11-->pter) karyotype and a patient with Prader-Willi syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q12: q12-->pter) karyotype were investigated with molecular markers along chromosome 15. Paternal uniparental isodisomy was found for all informative markers in the first case which indicates that this, rather than the presence of the extra chromosome, is the cause of the Angelman syndrome phenotype. Similarly, the PWS patient showed maternal uniparental distomy with absence of PWS region material on the inv dup(15) chromosome. If (1) marker chromosomes are an occasional by product of 'rescuing' a trisomic fertilisation, or (2) if duplication of the normal homologue in a zygote which has inherited a marker in place of the normal corresponding chromosome 'rescues' an aneuploid fertilisation, or (3) if the presence or formation of a marker chromosome increases the probability of non-disjunction, then uniparental disomy might be found occasionally in other subjects with de novo marker chromosomes. [ABSTRACT FROM PUBLISHER]

The International League Against Epilepsy (ILAE) classifi cation recognizes 2 forms of myoclonic epilepsy with a good prognosis: benign myoclonic epilepsy of infancy (BMEI) and juvenile myoclonic epilepsy (JME); recent studies confirm the efficacy of levetiracetam (LEV) in treating idiopathic generalized epilepsies (IGE) in patients with myoclonic seizures. We report a girl referred to our Child Neuropsychiatry Unit at age 9 years because of massive myoclonic jerks, previously diagnosed as tics. Neuropsychological examination evidenced mild cognitive impairment. The clinical and electroencephalogram (EEG) data led to diagnosis of BMEI with late presentation. A dramatic suppression of interictal and ictal epileptiform activity was achieved after only one intake of LEV. Another neuropsychological examination after 6 months of treatment showed performance improvement probably related to EEG modifications. LEV may be suitable for the firstline treatment of myoclonic idiopathic seizures. [ABSTRACT FROM AUTHOR]

Abstract Background To date, no studies have assessed in detail the characteristics, organisation, and functioning of Child and Adolescent Mental Health Services (CAMHS). This information gap represents a major limitation for researchers and clinicians because most mental disorders have their onset in childhood or adolescence, and effective interventions can therefore represent a major factor in avoiding chronicity. Interventions and mental health care are delivered by and through services, and not by individual, private clinicians, and drawbacks or limitations of services generally translate in inappropriateness and ineffectiveness of treatments and interventions: therefore information about services is essential to improve the quality of care and ultimately the course and outcome of mental disorders in childhood and adolescence. The present paper reports the results of the first study aimed at providing detailed, updated and comprehensive data on CAMHS of a densely populated Italian region (over 4 million inhabitants) with a target population of 633,725 subjects aged 0-17 years. Methods Unit Chiefs of all the CAMHS filled in a structured 'Facility Form', with activity data referring to 2008 (data for inpatient facilities referred to 2009), which were then analysed in detail. Results Eleven CAMHS were operative, including 110 outpatient units, with a ratio of approximately 20 child psychiatrists and 23 psychologists per 100,000 inhabitants aged 0-17 years. All outpatient units were well equipped and organized and all granted free service access. In 2008, approximately 6% of the target population was in contact with outpatient CAMHS, showing substantial homogeneity across the eleven areas thereby. Most patients in contact in 2008 received a language disorder- or learning disability diagnosis (41%). First-ever contacts accounted for 30% of annual visits across all units. Hospital bed availability was 5 per 100,000 inhabitants aged 0-17 years. Conclusion The percentage of young people in contact with CAMHS for mental disorders is in line with those observed in previous epidemiological studies. The overall number of child psychiatrists per 100,000 inhabitants is one of the highest in Europe and it is comparable with the most well equipped areas in the US. This comparison should be interpreted with caution, however, because in Italy, child psychiatrists also treat neurological disorders. Critical areas requiring improvement are: the uneven utilisation of standardised assessment procedures and the limited availability of dedicated emergency services during non-office hours (e.g., nights and holidays).

Abstract We have reviewed the literature related to the current advances in comprehension of Eating Disorders (ED) in childhood and preadolescence. The state of art regarding the psychodynamic models concerning the onset of ED are explained. DSM-IV and ICD-10 criteria are discussed, pointing out their little value in the characterization of early eating difficulties. Historic and new diagnostic classifications are displayed in detail. We provided a clearer description of subclinical patterns. Finally we focus on the key role of the paediatrician in detecting and managing parental concerns regarding feeding.

Abstract Background In 1997 Vagus Nerve Stimulation (VNS) received approval from the US Food and Drug Administration (FDA) as an adjunctive therapy in the treatment of medically intractable partial epilepsy in people aged 12 years and older who are ineligible for resective epilepsy surgery. Although the exact mechanisms of action are unknown, the use of VNS with children has increased, including those younger than 12 years of age, or those with generalized epilepsy. Methods We describe the outcome for the first group of nine patients, aged 8-28 years, who had pharmaco-resistant epilepsy and were treated with VNS. During the follow up, we gradually and slowly increased the parameters of the stimulation in order to assess the efficacy of VNS even at parameters which would usually be considered "non-therapeutic", along with possible side effects and changes in quality of life. Results At the last follow, up 1 patient was "seizures free", 3 were "very good responders", 3 were "good responders" and 2 were "non responders". We obtained an initial seizure reduction with low stimulation parameters, the highest current reached being 2.00 mA. This observation supports the possibility that, for younger patients, lower stimulation intensities than those commonly used in clinical practice for adults can be therapeutic. We also wanted to underline the reduction in seizure frequency (~91,7%) and the reduction in seizure duration (> 50%) in the patients affected by drug-resistant absence epilepsy. Adverse effects were mild, tolerable and, in most of cases, easily resolved by adjusting the stimulation parameters. Hoarseness of voice was the most frequent side effect. The improvements in the quality of life are relevant and seem to be independent of the VNS effect in controlling seizures. Conclusions Our small experience seems to confirm the efficacy and safety of VNS in drug resistant partial and generalized epilepsy in developing age groups.

Abstract: Congenital Cataracts with Facial Dysmorphisms and Neuropathy (CCFDN) is a complex autosomal recessive disorder characterized by bilateral congenital cataracts, developmental delay, peripheral; hypo-demyelinating neuropathy, mild facial dysmorphisms, and other rare signs. Cerebral and spinal cord atrophy is the main neuroimaging finding but other less common abnormalities have been previously described. We describe progressive focal lesions of supratentorial white matter in a 10-year-old boy affected by CCFDN. Other etiologies have been excluded and these lesions can be considered a new finding of the disease. We discuss a possible demyelinating mechanism affecting both peripheral and central myelin. [Copyright &y& Elsevier]