Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.

BACKGROUND: Autosomal recessive congenital ichthyoses (ARCIs) are a clinically heterogeneous group of keratinization disorders characterized by generalized skin scaling due to mutations in at least 12 genes. The aim of our study was to assess disease severity, phenotypic, and ultrastructural features and to evaluate their association with genetic findings in ARCI patients. METHODS: Clinical signs and symptoms, and disease severity were scored in a single-center series of patients with a genetic diagnosis of ARCI. Skin ultrastructural findings were reviewed. RESULTS: Seventy-four consecutive patients (mean age 11.0 years, range 0.1-48.8) affected with lamellar ichthyosis (50/74, 67.5%), congenital ichthyosiform erythroderma (18/74, 24.3%), harlequin ichthyosis (two/74, 2.7%), and other minor ARCI subtypes (four/74, 5.4%) were enrolled. Mutated genes were as follows: TGM1 in 18/74 (24.3%) patients, ALOX12B in 18/74 (24.3%), CYP4F22 in 12/74 (16.2%), ABCA12 in nine/74 (12.2%), ALOXE3 in seven/74 (9.5%), NIPAL4 in seven/74 (9.5%), and CERS3, PNPLA1, and SDR9C7 in 1 patient each (1.4%). Twenty-five previously undescribed mutations in the different ARCI causative genes, as well as two microduplications in TGM1, and two microdeletions in CYP4F22 and NIPAL4 were identified. The mean ichthyosis severity score in TGM1- and ABCA12-mutated patients was significantly higher than in all other mutated genes, while the lowest score was observed in CYP4F22-mutated patients. Alopecia, ectropion, and eclabium were significantly associated with TGM1 and ABCA12 mutations, and large, thick, and brownish scales with TGM1 mutations. Among specific phenotypic features, psoriasis-like lesions as well as a trunk reticulate scale pattern and striated keratoderma were present in NIPAL4-mutated patients. Ultrastructural data available for 56 patients showed a 100% specificity of cholesterol clefts for TGM1-mutated cases and revealed abnormal lamellar bodies in SDR9C7 and CERS3 patients. CONCLUSION: Our study expands the phenotypic and genetic characterization of ARCI by the description of statistically significant associations between disease severity, specific clinical signs, and different mutated genes. Finally, we highlighted the presence of psoriasis-like lesions in NIPAL4-ARCI patients as a novel phenotypic feature with diagnostic and possible therapeutic implications.

Meta-analysis of the Difficulties in Emotion Regulation Scale and its short forms: A two-part study.

The Difficulties in Emotion Regulation Scale (DERS) is the most used self-report questionnaire to assess deficits in emotion regulation (ER), composed of 6 dimensions and 36 items. Many studies have evaluated its factor structure, not always confirming the original results, and proposed different factor models. A possible way to try to identify the dimensionality of the DERS could be through a meta-analysis with structural equation models (MASEM) of its factor structure. The MASEM indicated that a six-factor model with 32 items (DERS-32) was the most suitable to represent the dimensionality of the DERS (χ2 = 2095.96, df = 449, p < .001; root mean square error of approximation [RMSEA] = 0.024, 95% confidence interval [CI]: 0.023-0.025; comparative fit index [CFI] = 0.97; Tucker Lewis index [TLI] = 0.96; standardized root mean squared residual [SRMR] = 0.04). This result was also confirmed by a confirmatory factor analysis (χ2 = 3229.67, df = 449, p < 0.001; RMSEA = 0.075, 95% CI: 0.073-0.078; CFI = 0.94; TLI = 0.93; SRMR = 0.05) on a new sample (1092 participants; mean age: 28.28, SD = 5.82 years) recruited from the Italian population. Analyses and results from this sample are reported in the second study of this work. The DERS-32 showed satisfactory internal consistency (i.e., ordinal α, Molenaar Sijtsma statistic, and latent class reliability coefficient) for all its dimensions and correctly categorized individuals with probable borderline symptomatology. In conclusion, the DERS-32 has demonstrated to be the best model for the DERS among all the others considered in this work, as well as a reliable tool to assess deficits in ER.

Psychometric Properties of the Italian Mentalization Questionnaire: Assessing Structural Invariance and Construct Validity.

Mentalization is an important interpersonal ability, necessary for adaptive interpersonal relationships and emotion regulation. Deficits in mentalization have been associated with poor psychological outcomes and have been observed in patients with Borderline Personality Disorder. The Mentalization Questionnaire (MZQ) has been developed as self-report measure of mentalization deficit. The aim of the study was to investigate the dimensionality of the MZQ in a nonclinical sample composed of Italian adults from the general population and to analyze its performance in categorizing individuals with higher risk of borderline symptoms. A non-clinical sample of 1,015 adults (709 women and 306 men) was administered the Italian versions of the MZQ, the Reflective Functioning Questionnaire (RFQ), and a measure of borderline psychopathology. A revised single-factor solution fitted the data well and demonstrated metric invariance across gender. The internal consistency (Ordinal α = 0.87) and stability (r = 0.84) were satisfactory. The MZQ was moderately associated with the RFQ dimensions. The ROC curve analysis showed that the MZQ was able to discriminate satisfactorily people with higher risk for borderline symptomatology from those with lower risk. The MZQ may, therefore, be considered a reliable and valid measure of mentalization for categorizing people at higher risk for borderline pathology.

Skin signs in eating disorders: a literature review.

PURPOSE: To summarize and describe the available knowledge on dermatological manifestation of eating disorders: anorexia nervosa, bulimia nervosa, binge eating disorder and eating disorder not otherwise specified, diagnosed according to Diagnostic and Statistical Manual of Mental Disorders IV-TR and 5th edition. METHODS: We searched in PubMed, Scopus and Web of Science databases from January 1, 1980 through May 1, 2020 for papers in English language on the skin manifestation of eating disorders. Results were screened using the PRISMA tool. RESULTS: The study yielded 207 results. According with PRISMA guidelines, 26 papers were included in the review. More than 73% of screened papers (19/26) were case reports. Cross-sectional studies represented the 19.2% of screened papers (5/26). Each eligible study has been screened and analyzed. CONCLUSION: Huge heterogeneity of skin signs of eating disorders were identified. The number of controlled studies available is very limited, and most papers of interest are case reports or narrative review articles. Larger, more methodologically rigorous studies to evaluate the presence of dermatological issue in eating disorder patients are needed. LEVEL OF EVIDENCE: Level IV. Evidence obtained from multiple time series analysis such as case studies.

The association between adult ADHD and food addiction: A mediation analysis.

OBJECTIVES: The aim of this study was to investigate the association between food addiction severity (FA) and ADHD symptomatology. Furthermore, we investigated whether emotional distress, and the mentalization deficits could mediate this relationship. METHODS: Three hundred eighty-five Italian adults (307 women and 78 men) participated in the study and completed the Italian versions of the Modified Yale Food Addiction Scale version 2.0, the Adult ADHD Self-Report Scale, the Depression Anxiety Stress Scales 21 and the Mentalization Questionnaire. RESULTS: ADHD symptoms severity and general distress were significantly and independently associated with FA. Emotional distress partly mediated the relationship between FA and ADHD symptoms severity. In addition, mentalization deficits partly mediated this relationship only when evaluating the influence of FA on ADHD symptoms severity. LIMITATIONS: This is a cross-sectional study and causal interpretations of the relationships among the variables are speculative. CONCLUSIONS: It is important to assess emotional distress and mentalization deficits in individuals at risk of ADHD and FA because these conditions could increase the risk for the presence of disordered eating patterns.

"Quality of Life in Epidermolysis Bullosa" and "Epidermolysis Bullosa Burden of Disease": Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires.

BACKGROUND: Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by blister formation following minor trauma. Four major types are distinguished based on the level of cleavage within the skin. Most EB forms present severely disabling cutaneous and systemic signs and symptoms. Management relies on daily time-consuming and distressing topical medications, and symptomatic treatment of systemic findings. Disease manifestations, symptoms, and daily care strongly affect patient and caregiver quality of life (QoL). To date, there are two validated EB-specific questionnaires, the "Quality of Life in Epidermolysis Bullosa" (QOLEB) and the "Epidermolysis Bullosa Burden of Disease" (EB-BoD) for the evaluation of patient and family disease burden, respectively. The aim of our study was to develop an Italian translation of the two questionnaires and to pilot-test them. METHODS: The guidelines for translation and cross-cultural adaptation of health-related QoL measures were followed. Initially, two separate translations were generated for each questionnaire, and subsequently reconciled by an expert committee. This was followed by a back-translation process. The original texts and all translations underwent revision by the expert committee, resulting in definitive versions. The final versions were then tested in a pilot study involving cognitive debriefing in a group of 17 families, representative of all EB major types. RESULTS: The translation and reconciliation process led to minor changes to obtain semantic/idiomatic/cultural equivalence of the Italian versions with the original ones and to reconcile the questions with the answer options. The cognitive debriefing process showed a good understanding and did not require text modifications. CONCLUSIONS: The Italian versions of the QOLEB and EB-BoD provide valuable tools in everyday clinical practice of reference centers, and they allow the participation in multicenter international real-life observational studies as well as in controlled clinical trials. They enable the identification of disease-specific psychological and socioeconomic challenges for EB patients and their families, guiding targeted interventions to ensure appropriate and timely care.