[Show abstract][Hide abstract] ABSTRACT: 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.
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.
[Show abstract][Hide abstract] ABSTRACT: Objectives. The one-carbon metabolism, also known as methionine-homocysteine cycle, governs the dynamics of DNA methylation, epigenetically regulating gene expression, and has been reported altered in anorexia nervosa (AN) adult patients. The aim of this study consisted in assessing whole-blood DNA methylation in adolescent AN patients, assessing its significance in relationship to clinical and hormonal variables. Methods. Whole-blood global DNA methylation was measured as incorporation of [(3)H]dCTP following HpaII cut in 32 adolescent females affected by restrictive type AN and compared to 13 healthy controls. Homocysteine, vitamin B12 and folate plasma levels were assessed as well as fasting plasma levels of leptin and steroid hormones. Clinical variables, including severity and associate states and traits, were assessed by means of the EDI-3, CDI and STAI-Y scales. Results. We confirm that whole-blood global DNA methylation is modestly albeit significantly reduced in AN adolescents with respect to controls, correlating with plasma leptin and steroid hormone levels. Conversely, clinical traits did not correlate with the outcome variable. Conclusions. A better definition of the epigenetic dysregulation underlying AN pathology or vulnerability might lead to develop useful markers for diagnosis, prognostic classification and tailored therapeutic interventions in these vulnerable patients since the earliest phases of their disease.
The World Journal of Biological Psychiatry 11/2013; · 3.57 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Aim of this study consisted in assessing the 24-h heart rate variability (HRV), a measure of autonomic nervous system (ANS) imbalance, in 21 adolescents with functional hypothalamic amenorrhea (FHA, 11 normogonadotropic, N-FHA, and 10 hypogonadotropic, Hy-FHA) compared to 21 patients with anorexia nervosa (AN) and 21 controls. As expected, subjects with AN showed a significant dysregulation in multiple HRV parameters, while Hy-FHA patients presented with a dysregulation in a few domains (SDNN, HFr), which was not present in girls with N-FHA, who showed values largely similar to controls. FHA might represent part of the AN biological spectrum, and a link between these two conditions might exist, possibly related to the degree of psychological and/or hormonal dysfunction.
[Show abstract][Hide abstract] ABSTRACT: Functional hypothalamic amenorrhea (FHA) is a form of anovulation, due to the suppression of hypothalamic-pituitary-ovarian axis, not related to identifiable organic causes. Like adolescents with anorexia nervosa (AN), subjects with FHA show dysfunctional attitudes, low self-esteem, depressive mood, anxiety and inability to cope with daily stress. The aim of the study is to examine similarities and differences between FHA and AN in terms of clinical profiles and psychological variables.
21 adolescents with FHA, 21 adolescents with anorexia nervosa, and 21 healthy adolescents were included in the study. All the teenagers completed a battery of self-administered psychological tests for the detection of behaviors and symptoms attributable to the presence of an eating disorder (EDI-2), depression (CDI), and alexithymia (TAS-20).
Different from healthy controls, subjects with FHA and with AN shared common psychopathological aspects, such as maturity issues, social insecurity and introversion, a tendency to depression, excessive concerns with dieting, and fear of gaining weight. Nevertheless, adolescents with AN presented a more profound psychopathological disorder as observed at test comparisons with subjects with FHA.
Results show a clinical spectrum that includes AN and FHA and suggest the necessity to treat FHA with a multidisciplinary approach for both organic and psychological aspects.
Eating and weight disorders: EWD 08/2013; · 0.53 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: BACKGROUND: Anorexia 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. METHODS: Eleven 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. RESULTS: The 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). CONCLUSIONS: This 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.
Italian Journal of Pediatrics 02/2013; 39(1):14. · 1.34 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: We investigated self-image, psychological functioning, and quality of life in children and adolescents with juvenile idiopathic arthritis (JIA). Thirty-nine children with JIA were compared with 80 healthy peers. We first administered the Human Figure Drawing Test (HFDT) to all subjects; children also completed standardized questionnaires evaluating health-related quality of life (PEDSQL™ 4.0 Generic Core Scales) and the main aspects of psychological functioning: anxiety (SAFA-A) and depression (CDI). Parents were asked to complete the Child Behaviour Checklist (CBCL) and the PEDSQL™ 4.0. For each patient with JIA, clinical notes were gathered and a global disease assessment (visual analog scale--VAS) was performed. Compared to healthy peers, patients with JIA reported reduced maturity quotients at HFDT, more depressive traits, greater anxiety, and lower health-related quality of life. Among the subjects with JIA, HFDT revealed that adolescents had a greater impairment in all areas investigated. Furthermore, there was a significant correlation between the physical well-being rated by VAS and the perception of poorer quality of life in patients, mostly in the psychosocial domains. Children and adolescents with JIA exhibit emotional difficulties and a delay of psychological development leading to low self-esteem, a distorted self-image, more anxiety and depression traits, and a worse quality of life, when compared to healthy subjects.
Rheumatology International 02/2013; · 2.21 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: 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.
[Show abstract][Hide abstract] ABSTRACT: The epidemiology of anxiety traits was examined in a large sample of Italian preadolescent children, and 3,479 Italian nine-year-old subjects were enrolled. Anxious traits were observed in 10.5% of children. No significant gender differences were found, but children of separated couples presented a relative risk for anxious traits that was 50% higher, than children of cohabiting or married parents. Moreover, large families (more than 4 members) with a stay-at-home mother were also associated with anxiety in the offspring. Currently, this is the first study carried out in a large sample of preadolescent children, all of the same age.
Child Psychiatry and Human Development 08/2011; 43(1):27-34. · 1.93 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Neurotransmitter ligand binding in blood cells was assessed in borderline personality disorder (BDP) patients, testing the possibility that different biochemical endophenotypes might lie beneath a specific clinical presentation. The density of peripheral benzodiazepine receptors (PBR) and serotonin transporters were assessed in peripheral blood mononuclear cells (PBMC) and platelets, respectively, showing a decrease of both parameters. Moreover, a further significant decrease of PBR in PBMC was shown for those patients with a depressive trait. Further confirmation of the presence of different molecular endophenotypes underlying the dissimilar clinical presentations in BPD may advance our possibility of successfully treating these patients.
[Show abstract][Hide abstract] ABSTRACT: INTRODUCTION: The 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 18 years, 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. DISCUSSION: The 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.
Journal of Clinical Immunology 01/2009; 29(4):501-7. · 3.38 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: To determine trigger factors and neuropsychologic correlates of functional hypothalamic amenorrhea (FHA) in adolescence and to evaluate the correlations with the endocrine-metabolic profile.
Cross-sectional comparison of adolescents with FHA and eumenorrheic controls
Academic medical institution
Twenty adolescent girls with FHA (aged <18 years) and 20 normal cycling girls
All subjects underwent endocrine-gynecologic (hormone) and neuropsychiatric (tests and interview) investigations. A separate semistructured interview was also used to investigate parents.
Gonadotropins, leptin, prolactin, androgens, estrogens, cortisol, carrier proteins (SHBG, insulin-like growth factor-binding protein 1), and metabolic parameters (insulin, insulin-like growth factor 1, thyroid hormones) were assayed in FHA and control subjects. All girls were evaluated using a test for depression, a test for disordered eating, and a psychodynamic semistructured interview.
Adolescents with FHA showed a particular susceptibility to common life events, restrictive disordered eating, depressive traits, and psychosomatic disorders. The endocrine-metabolic profile was strictly correlated to the severity of the psychopathology.
Functional hypothalamic amenorrhea in adolescence is due to a particular neuropsychologic vulnerability to stress, probably related to familial relationship styles, expressed by a proportional endocrine impairment.
Fertility and sterility 04/2007; 87(4):876-85. · 3.97 Impact Factor