Italian Journal of Pediatrics - Most accessed articles

Celiac disease in type 1 diabetes mellitus

Maria Erminia Camarca — 2012-03-26T00:00:00Z

Celiac Disease (CD) occurs in patients with Type 1 Diabetes (T1D) ranging the prevalence of 4.4-11.1% versus 0.5% of the general population. The mechanism of association of these two diseases involves a shared genetic background: HLA genotype DR3-DQ2 and DR4-DQ8 are strongly associated with T1D, DR3-DQ2 with CD. The classical severe presentation of CD rarely occurs in T1D patients, but more often patients have few/mild symptoms of CD or are completely asymptomatic (silent CD). In fact diagnosis of CD is regularly performed by means of the screening in T1D patients. The effects of gluten-free diet (GFD) on the growth and T1D metabolic control in CD/T1D patient are controversial. Regarding of the GFD composition, there is a debate on the higher glycaemic index of gluten-free foods respect to gluten-containing foods; furthermore GFD could be poorer of fibers and richer of fat. The adherence to GFD by children with CD-T1D has been reported generally below 50%, lower respect to the 73% of CD patients, a lower compliance being more frequent among asymptomatic patients. The more severe problems of GFD adherence usually occur during adolescence when in GFD non compliant subjects the lowest quality of life is reported. A psychological and educational support should be provided for these patients.

Sensory integration and activities of daily living in children with developmental coordination disorder

Bülent Elbasan — 2012-04-30T00:00:00Z

ObjectiveThe aim of our study was to evaluate sensory integration and activities of daily living in children with developmental coordination disorderSubjects and methods37 cases with developmental coordination disorder and 35 healthy age-matched peers were included in this study. Ayres Southern California Sensory Integration Test was used for evaluating the sensory integration and Functional Independence Measure for Children (WeeFIM) was used for evaluating the activities of daily living. Results: Significant differences were found in the visual shape perception, position in space, and design copying (p < 0.05). According to the results of somatosensory perception tests, significant differences were found in kinesthesia, manual form perception, finger identification, figure-ground perception, localization of tactile stimuli, double tactile stimuli perception (p < 0.05). Control group was better in motor planning (p < 0.05). Comprehension, expression, social communication, problem solving, and memory skills were significant in favor of the control group (p < 0.05). Graphestesia and self-care domain was found to be correlated (r = 0,491, p = 0.002) between the groups.DiscussionSpecial education and rehabilitation programs including sensory integration therapy and motor performance will increase independence in the activities of daily living in children with developmental coordination disorder.

Chest wall TB and low 25-hidroxy-vitamin D levels in a 15-month-old girl

Danilo Buonsenso — 2012-04-17T00:00:00Z

Parietal chest wall tuberculosis is an extremely rare manifestation of tuberculosis (TB) in children. We present the case of a 15 month-old girl presenting with a chest wall lesion initially thought to be of neoplastic origin and eventually diagnosed as chest wall TB, which was treated with surgical debridement and specific antitubercular therapy. The girl had not-measurable 25-hidroxy-vitamin D levels, an increasingly recognized risk factor for the development of active TB. To our knowledge, in the English literature there are no similar described cases in such young infants. This case highlight the possibility of dealing with TB and its different manifestations also in low TB burden countries, due to continuously increasing migration flows. A detailed history is a key point to reach the diagnosis. Moreover, our case confirm the possible non casual relationship between TB and low 25-hidroxy-vitamin D levels, pointing out the importance of measuring its levels in all TB patients and considering its supplementation in addition to specific antitubercular therapy.

Cow's milk protein allergy in children: a practical guide

Carlo Caffarelli — 2010-01-15T00:00:00Z

A joint study group on cow's milk allergy was convened by the Emilia-Romagna Working Group for Paediatric Allergy and by the Emilia-Romagna Working Group for Paediatric Gastroenterology to focus best practice for diagnosis, management and follow-up of cow's milk allergy in children and to offer a common approach for allergologists, gastroenterologists, general paediatricians and primary care physicians.The report prepared by the study group was discussed by members of Working Groups who met three times in Italy. This guide is the result of a consensus reached in the following areas. Cow's milk allergy should be suspected in children who have immediate symptoms such as acute urticaria/angioedema, wheezing, rhinitis, dry cough, vomiting, laryngeal edema, acute asthma with severe respiratory distress, anaphylaxis. Late reactions due to cow's milk allergy are atopic dermatitis, chronic diarrhoea, blood in the stools, iron deficiency anaemia, gastroesophageal reflux disease, constipation, chronic vomiting, colic, poor growth (food refusal), enterocolitis syndrome, protein-losing enteropathy with hypoalbuminemia, eosinophilic oesophagogastroenteropathy. An overview of acceptable means for diagnosis is included. According to symptoms and infant diet, three different algorithms for diagnosis and follow-up have been suggested.

Genetics of SCID

Fausto Cossu — 2010-11-15T00:00:00Z

Human SCID (Severe Combined Immunodeficiency) is a prenatal disorder of T lymphocyte development, that depends on the expression of numerous genes. The knowledge of the genetic basis of SCID is essential for diagnosis (e.g., clinical phenotype, lymphocyte profile) and treatment (e.g., use and type of pre-hematopoietic stem cell transplant conditioning).Over the last years novel genetic defects causing SCID have been discovered, and the molecular and immunological mechanisms of SCID have been better characterized. Distinct forms of SCID show both common and peculiar (e.g., absence or presence of nonimmunological features) aspects, and they are currently classified into six groups according to prevalent pathophysiological mechanisms: impaired cytokine-mediated signaling; pre-T cell receptor defects; increased lymphocyte apoptosis; defects in thymus embryogenesis; impaired calcium flux; other mechanisms.This review is the updated, extended and largely modified translation of the article "Cossu F: Le basi genetiche delle SCID", originally published in Italian language in the journal "Prospettive in Pediatria" 2009, 156:228-238.

Multiple Endocrine Neoplasias Type 2B and RET proto-oncogene

Giuseppe Martucciello — 2012-03-19T00:00:00Z

Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma . The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.

The neurobiological basis of ADHD

Paolo Curatolo — 2010-12-22T00:00:00Z

Attention-Deficit/Hyperactivity Disorder is not a single pathophysiological entity and appears to have a complex etiology. There are multiple genetic and environmental risk factors with small individual effect that act in concert to create a spectrum of neurobiological liability. Structural imaging studies show that brains of children with Attention-Deficit/Hyperactivity Disorder are significantly smaller than unaffected controls. The prefrontal cortex, basal ganglia and cerebellum are differentially affected and evidence indicating reduced connectivity in white matter tracts in key brain areas is emerging. Genetic, pharmacological, imaging, and animal models highlight the important role of dopamine dysregulation in the neurobiology of Attention-Deficit/Hyperactivity Disorder. To date, stimulants are the most effective psychopharmacological treatments available for Attention-Deficit/Hyperactivity Disorder. Currently only immediate release methylphenidate and atomoxetine are approved for the treatment of ADHD in Italy. Drug treatment should always be part of a comprehensive plan that includes psychosocial, behavioural and educational advice and interventions.

Posttraumatic stress symptoms in children diagnosed with type 1 diabetes

Sahika Şişmanlar — 2012-04-26T00:00:00Z

Background: Studies consistently found remarkable rates of posttraumatic stress symptoms (PTSS) inchildren with chronic diseases. But, only one study had searched PTSS in children withdiabetes, until now. So, the present study aimed to examine incidence rate and predictors ofPTSS in children with type 1 diabetes.MethodPTSS were evaluated by Child Posttraumatic Stress Reaction Index in fifty four children withdiabetes (aged between 8-18 years). This assessment was based on hypoglycaemia as thepotential traumatic event. Children were also introduced a brief questionnaire aboutdemographic and disease related information. Some other information was obtained fromfamilies, medical stuff and records. Among 54 children, forty two had complete information.Hence, to evaluate possible predictive factors related with PTSS, multiple regression analysiswas conducted for 42 children. Results: 18.5% of children were reported PTSS at severe or very severe level, and 51.9% werereported PTSS at moderate level or above. Multiple regression analyses were shown thatchild PTSS were not significantly related with possible predictive factors other than numberof hypoglycaemic attacks for the last month. Conclusion: The study results support that posttraumatic stress symptoms are not rarely seen in paediatricpatients with diabetes, and even if not severe, hypoglycaemic attacks may be perceived astraumatic by the children with diabetes. But, because of some limitations, the results shouldbe carefully interpreted.

Severe reaction in a child with asymptomatic codfish allergy: Food challenge reactivating recurrent pancreatitis

Katia Pellegrino — 2012-05-09T00:00:00Z

An 8-year-old child during the first year of life manifested severe atopic dermatitis and chronicdiarrhea with mucorrhea and rectal bleeding; a fish-free diet was started based on weaklypositive skin-prick tests to codfish extract. At the age of 4 years the child began to suffer ofrecurrent pancreatitis. When he came to our attention for the evaluation of his fish allergy, hewas asymptomatic; a weak reactivity to codfish was observed (SPTs: cod, 4 mm, sIgEImmunoCAP: cod, 1.30kU/l). The food challenge test with cod was negative. When the child atecod again, within 5 minutes, developed anaphylactic reaction and complained of abdominal paincompatible with pancreatitis (enzyme serum levels risen and parenchymal oedema atultrasonography), that resolved within 7 days after specific therapy. This case raises two issues:the elimination diet in asymptomatic food allergy on the basis only of SPT and the ethicality offood challenge in gastrointestinal chronic disease.

Corpus callosum agenesis and rehabilitative treatment

Matteo Chiappedi — 2010-09-17T00:00:00Z

Corpus callosum agenesis is a relatively common brain malformation. It can be isolated or included in a complex alteration of brain (or sometimes even whole body) morphology. It has been associated with a number of neuropsychiatric disorders, from subtle neuropsychological deficits to Pervasive Developmental Disorders.Etiology and pathogenetic mechanisms have been better understood in recent years, due to the availability of more adequate animal models and the relevant progresses in developmental neurosciences. These recent findings are reviewed (through a MedLine search including papers published in the last 5 years and most relevant previously published papers) in view of the potential impact on children's global functioning and on the possible rehabilitative treatment, with an emphasis on the possibility to exploit brain plasticity and on the use of the ICF-CY framework.