Monica Bomba

Poor health-related quality of life and abnormal psychosocial adjustment in italian children with perinatal hiv infection receiving highly active antiretroviral treatment

Abstract To evaluate health-related quality of life (HRQL), social competence, and behavioral problems in children with perinatal HIV infection receiving highly active antiretroviral therapy (HAART), a cross-sectional study was performed at the Department of Pediatrics, University of Brescia. We evaluated HRQL, social competence, and behavioral problems in 27 HIV-infected children compared with age and sex-matched control subjects using the Pediatric Quality of Life Inventory (PedsQL) and the Child Behavior Checklist (CBCL), respectively. On the PedsQL 4.0 Generic Core Scale, HIV-infected subjects displayed significantly reduced physical (p=0.043) and psychosocial health (p=0.021) functioning, particularly at school (p=0.000), compared with healthy subjects, resulting in a significantly reduced total score (p=0.013). Assessment of social competence and the behavioral features of HIV-infected children by means of the CBCL revealed severe limitations of functioning in HIV-infected children who had impaired social ability. Children with HIV-RNA above the threshold level of 50 had higher scores on the CBCL delinquent behavior (p=0.021) and school competence (p=0.025) subsets. Although the introduction of HAART regimens has prolonged the survival of HIV-infected children, other factors, including disease morbidity and familial and environmental conditions, negatively affect their quality of life, thereby contributing to increased risk for behavioral problems.

Alexithymia in parents and adolescent anorexic daughters: comparing the responses to Tsia and Tas-20 scales

Background A growing body of literature has been focusing on individual alexithymia in anorexia nervosa, while there are only scarce and conflicting studies on alexithymia in the families of anorexic patients, despite the important role played by family dynamics in the development of the anorexic disorder, especially in adolescent patients. The aim of this study is to assess alexithymia in anorexic adolescent patients and in their parents using a multimethod measurement to gain more direct, in-depth knowledge of the problem. Methods Forty-six subjects, anorexic adolescent patients and their parents, underwent the Toronto Alexithymia Scale (TAS-20) along with the Toronto Structured Interview for Alexithymia (TSIA), which represents the first comprehensive clinically structured interview focused specifically on assessing alexithymia. The use of latent trait Rasch analysis allowed a comparison of the two instruments’ sensitivity and ability to detect the presence and intensity of alexithymic components in patients and parents. Results Significant discordance was found between the two measures. The clinical instrument allowed detection of a greater level of alexithymia compared with the self-report, in particular in our adult parent sample. Moreover, a significant alexithymic gap emerged within families, particularly within parental couples, with noticeably more alexithymic fathers compared with the mothers. Conclusion The TSIA clinical interview may be a more sensitive instrument in detecting alexithymia, minimizing parents’ negation tendency. Clinical questions have arisen on how useful it would be to give greater weight to family functioning (ie, alexithymic gap) in order to predict the possibility of establishing a therapeutic alliance, and thus the outcome of the anorexic adolescent.

The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

IntroductionThe health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18xa0years, comparing child perception to that of the parents and the physician’s evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases.DiscussionThe agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed.

Impact of speed and magnitude of weight loss on the development of brain trophic changes in adolescents with anorexia nervosa: a case control study

BackgroundAnorexia nervosa commonly arises during adolescence and is associated with more than one medical morbidity. Abnormalities in brain structure (defined as “pseudoatrophy”) are common in adolescents with anorexia nervosa; however, their correlations with endocrinological profiles and clinical parameters are still unclear. In particular, no study has described the impact of BMI (body mass index) variations (speed and magnitude of weight loss) on cerebral trophism changes.MethodsEleven adolescents with anorexia nervosa and 8 healthy controls underwent cerebral MRI (magnetic resonance imaging) examination to obtain global and partial volumes (gray matter, white matter and cerebrospinal fluid) and clinical evaluation. The Mann-Whitney U test was used to compare partial volumes and clinical variables between cases and controls. The Spearman non-parametric test was performed in order to explore correlations between the variables studied.ResultsThe patients diagnosed with AN showed significantly increased cerebrospinal fluid (CSF) volumes and decreased total gray (GM) and white matter (WM) volumes. The degree of weight loss (deltaBMI) correlated inversely with the GM volume; the increase of CSF compartment correlated directly with the rapidity of weight loss (DeltaBMI/disease duration).ConclusionsThis study suggests a correlation between cerebral alterations in AN and the speed and magnitude of weight loss, and outlines its importance for the therapeutic treatment.

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

BackgroundInterstitial 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 PresentationWe 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.ConclusionsThis 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.

Diazepam Binding Inhibitor and Dehydroepiandrosterone Sulphate Plasma Levels in Borderline Personality Disorder Adolescents

Background: Borderline personality disorder (BPD) patients display a complex and heterogeneous clinical phenotype that plausibly implies variable underlying pathogenic mechanisms. A dysregulation of peripheral benzodiazepine receptors has previously been shown in BPD peripheral tissues, implying possible alterations of its ligand, the diazepam binding inhibitor (DBI) or of the downstream products of its activation, i.e. neuroactive steroids. Methods: The aim of this work consisted in assessing, by ELISA, fasting plasma levels of DBI and dehydroepiandrosterone sulphate (DHEA-S), including cortisol and the cortisol-to-DHEA-S molar ratio (CDR), in 17 BPD adolescents versus 13 healthy controls, testing the possibility that clinical scales related to depressive or anxious traits (CDI, STAI-Y) or to disease severity (BPDCL) might be associated with a selective dysregulation of these parameters. Results: DBI plasma levels were unchanged, while DHEA-S ones were significantly increased (approx. 70%) and the CDR decreased in BPD patients. No meaningful correlations with clinical variables emerged. Conclusion: Our results indicate that a dysfunction of the neurosteroid system might be operative in BPD in spite of unchanged DBI plasma levels and that DHEA-S might represent a generalized trait marker for the altered stress response that is associated with this disorder.

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.

Anorexia nervosa of the restrictive type and celiac disease in adolescence

Background Anorexia nervosa (AN) is usually present in adolescence with symptoms partially overlapping celiac disease (CD), but the relationship between these two conditions has received little attention in the literature. The aim of this work was to explore this relationship, considering if CD could be associated with specific baseline AN-related clinical features. Methods In this retrospective study, 82 adolescent female out- and inpatients with AN of the restrictive type (ANr), according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria, were recruited. CD diagnosis and related serology were recorded, including tissue transglutaminase type-2 antibodies, endomysial antibodies, and antibodies against deamidated forms of gliadin peptides. Eating disorder inventory-3, Children’s Depression Inventory, body mass index, age, and disease duration data recorded at the time of blood withdrawal were also obtained from each patient. Results Five (6.1%) subjects presented a CD disorder associated with AN: none of the collected psychometric measures was significantly correlated with any CD-related parameter or characterized as a specific subgroup. Conclusion CD diagnosis or serology does not relate to ANr clinical or demographic characteristics. However, a slight increase in prevalence with respect to the general population might be hypothesized and possibly elucidated by further studies with an appropriate design.

Cognitive profiles in bilingual children born to immigrant parents and Italian monolingual native children with specific learning disorders

Purpose The aim of this study is to compare the Wechsler Intelligence Scale for Children® – fourth edition IV (WISC IV) intellectual profile of two groups of children with specific learning disorder, a group of bilingual children and a group of monolingual Italian children, in order to identify possible significant differences between them. Patients and methods A group of 48 bilingual children and a group of 48 Italian monolingual children were included in this study. A preliminary comparison showed the homogeneity of the two groups regarding learning disorder typology and sociodemographic characteristics (age at WISC IV assessment, sex and years of education in Italy) with the exception of socioeconomic status. Socioeconomic status was then used as a covariate in the analysis. Results Even if the two groups were comparable in specific learning disorder severity and, in particular, in the text comprehension performance, our findings showed that the WISC IV performances of the bilingual group were significantly worse than the Italian group in Full Scale Intelligence Quotient (P=0.03), in General Ability Index (P=0.03), in Working Memory Index (P=0.009) and in some subtests and clusters requiring advanced linguistic abilities. Conclusion These results support the hypothesis of a weakness in metalinguistic abilities in bilingual children with specific learning disorders than monolinguals. If confirmed, this result must be considered in the rehabilitation treatment.

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.