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Background Dubowitz syndrome (DS) is a complex and rare condition characterized by postnatal growth retardation, microcephaly, short stature, mild developmental delay, facial dysmorphism, skin eruption and bone marrow failure. Though approximately 200 cases have been described so far, no specific genetic analysis, laboratory tests or radiological exams are available to confirm the diagnosis which is still based on clinical and facial features. Although short stature is a major feature of the syndrome, no endocrine alterations have been reported so far and scant data are available about the efficacy and safety of GH treatment in these patients. Methods A 13‐year‐old male patient was referred to our attention for short stature. Endocrinological evaluation including GH axis, adrenal and gonadal functions were assessed. aCGH was performed. Results 14q terminal microdeletion associated with Dubowitz phenotype was found. Endocrinological investigations revealed the presence of hypopituitarism which showed a satisfactory response to short‐term growth hormone therapy. The subject also started glucocorticoid replacement therapy. Disorders in pubertal progression and gonadal function were noted. Conclusions Dubowitz syndrome (DS) includes different clinical findings variably occurring. Subjects with a Dubowitz phenotype should be carefully monitored for endocrinological anomalies. The prompt recognition of potential life‐threatening endocrinological condition for example adrenal insufficiency is mandatory in order to start an adequate and early treatment., We report the endocrinological features of a male patient with 14q microdeletion and Dubowitz phenotype who showed a good response to short‐term GH therapy.

Background Numerous studies described the epidemiological link and main clinical features of pediatric COVID-19, during the first pandemic period. Our study encompasses several different phases since the National Lockdown in Italy. The primary outcome is (I) to analyze the prevalence of positive NST (Nasopharyngeal Swab Test) among the largest Italian Pediatric cohort admitted to a single regional PED Hub for COVID-19 during an eight-month period. Secondary outcomes are: (II) the description of trend of admissions in our PED and (III) the categorization of the positive patients according to clinical manifestations and epidemiological link. Methods We described 316 patients with a positive NST for SARS-CoV2, on a total of 5001 nasopharyngeal swabs performed among 13,171 admissions at our PED, over a period starting from March 17th, 2020 to December 1st, 2020. Age, epidemiological link, clinical features and hospitalizations were analyzed according to different lockdown phases. Data were collected anonymously from electronic records and analyzed using SPSS 22.00 statistics software (Chicago, IL). Results Thirty-six percent of total admissions have been tested. During the post lockdown period, we performed the highest percentage of NST (Nasopharyngeal Swab Test) 49.7%, and among them 7.9% were positive. The prevalence of infection during a 10-month period was 2.3%. Mean age was 6.5 years old. Familial Link accounted for the 67.7% of infection, while Extrafamilial and Unknown link accounted for 17 and 14.9%, respectively. Familial link is predominant during all phases. Seventeen patients showed an intra-scholastic link, and the highest prevalence was observed in the 7–10 years age group, with a prevalence of 12.8% (5 patients). Fever was the most frequent symptom (66%), in particular among preschooler children aged 0–6 years (71.9%). Older children were more frequently symptomatic. Seven patients were admitted with MIS-C diagnosis. Conclusions Different levels of containment measures caused important changes in number of positive NST for SARS-CoV2. Familial link was predominant in our cohort, during all phases of Lockdown. The risk of being infected at home is four time greater than the risk of being infected from an extra familial individual. Further studies are needed to evaluate the clear impact of intra-scholastic link. The constant improvement in knowledge on onset symptoms and risk factor for SARS-CoV2 infection and its complications (e.g. MIS-C), can impact on number of hospitalizations, ICU admissions and early management.

Background Pediatricians play a crucial role in the identification and management of child abuse and neglect (CAN) but they often don’t have a formal specialized training. Methods We analysed retrospectively data about patients, 0 - 18 years of age, victims of CAN between 1 April 2005 and 30 April 2015. The aim of the study was to evaluate the effect of a multidisciplinary educational program, “CAN: prevention strategies, individuation and treatment”, on the knowledge, case recognition, treatment and follow-up of physicians of Gemelli University Hospital in Rome, regarding physical, sexual abuse and neglect. This program, in 3 different editions biannually, respectively in May-July 2010, November-January 2012 and February-May 2014, was based on 4 sessions, each one of 2 days. Results Considering the number of victims of CAN between 2005 and 2015 we observed 66 cases of maltreatment. We divided the study population in 2 groups: group A, before the educational programs, patients evaluated from 1 April 2005 to 30 July 2010; group B, after the educational program from 1 August 2010 to 30 April 2015. We observed 23 children in group A and 43 children in group B with an improvement of 87%. Analyzing our data about sex, nationality, type of perpetrators, we found that: 37/66 (56%) of children were females compared to 29/66 (44%) males; 41/66 (62%) of children came from Italy compared to 25/66 (38%) of foreign children; 52/66 (79%) of the perpetrators of abuse were parents or family members compared to acquaintances 10/66 (15%) and to strangers 4/66 (6%). Conclusions Considering the prevalence of CAN, the need to develop clinically competent clinicians and the improving of residency education in child maltreatment is imperative. Improving the clinical skills of pediatricians to identify and evaluate CAN may lead to reduce morbidity and mortality of these children.

Objective To evaluate health status of a group of children placed in a residential care in the city of Rome. Design It is a cross-sectional study. Setting We drawn up a questionnaire, which was filled out anonymously by each educator with the data of the child of which each was responsible. Analyses were conducted using the Microsoft Excel 2016 program. We used descriptive statistics to describe patients’ information. Patients We selected the residential care Il Girotondo, located in Rome. In April 2018 it hosted 17 children, 8 boys (47%) and 9 girls (52%), with a mean age of 23.9 ± 14.6 months. 35% (6/17) of children was from Romania, 29% (5/17) of children was from Italy, 18% (3/17) was from Nigeria, 6% (1/17) of children was of Rom ethnicity. One child had the father from Nigeria and the mother from Russia and one children had the father from Bulgaria and the mother from Algeria. The children were admitted to the residential care at a mean age of 15.7 ± 15.1 months. The mean length of stay was 8.4 ± 5.2 months. Interventions Not applicable. Main Outcome Measures Respiratory, urinary, intestinal, neurological, motor and psychological diseases, allergies to pollens or food, the state of vaccination, the re-lationship of the child with other children, the school attended and the academic achievement reported by their teachers. Results Respiratory diseases were the most frequent (37.5%), expecially in the fe-male group (55.6%) than in the male group (14.3%), followed by tendency to isola-tion (18.2%), neurological diseases (17.8%), not being at ease with other children (16.7%), intestinal diseases (11.8%), lack of acceptance by the others children (8.3%), motor diseases (6.3%) and psychological pathologies (5.9%). About respira-tory diseases, asthmatic pathologies affected 12.5% of the sample and the 22.2% of the girls. No one had any urinary diseases or pollen and food allergies. All children were vaccinated. Lastly, 80% of the sample (100% of males and 62.5% of females) did not attend any school. Two girls attended the day care and one girl attended the kindergarten. Conclusions Beyond the psychological pathologies, the children hosted in the alternative care suffer from physical and development disease more than the general pediatric popu-lation. It is needful to perform a systematic analysis of the data to define the real needs for this special paediatric population in order to start them on an appropriate medical path.

OBJECTIVE The aim of this study is to determine the impact of a motivational therapy (MT) on the outcomes for individuals diagnosed with nocturnal enuresis (NE). MATERIAL AND METHODS We enrolled 158 patients with NE referred to the Service of Pediatrics, Campus Bio-Medico University Hospital of Rome, from January 2013 to September 2017. Of these, 21 were excluded because they didn't meet the inclusion criteria. The study was carried out in compliance with the Helsinki Declaration. RESULTS A hundred and thirty seven enuretic patients [100 (72.9%) male and 37 (27.1%)] female patients with a median age of 8.8 years were included in the study. The patients were assigned to receive pharmacological therapy with desmopressin (dDAVP) (G1) (n=51), MT (G2) (n=33) and both of them (G3) (n=53). The three groups were homogeneous, with no significant differences in gender, age and family history of NE. In G1, 30/51 (58.82%) children achieved response vs. 1/33 (3.0%) children in G2 vs. 35/53 (66.04%) children in G3. About these results, The differences between G2 vs. G1 (p

Ferrara P, Cutrona C, Guadagno C, Amodeo ME, Del-Vescovo E, Ianniello F, Petitti T. Changes in trajectories of physical growth in a domestic adoptees sample: A preliminary study. Turk J Pediatr 2018; 60: 464-466. Internationally adopted infants experienced profound institutional deprivation in early infancy. Adoption may have a positive effect on child development, providing a massive catch-up growth in the developmental parameters. In this preliminary study we examined the effect of family deprivation on abandoned children placed in high quality foster care during infancy. We also investigated the presence of a growth delay in Italian domestic adoptees at the time of family placement and the potential physical recovery after adoption. Anthropometric measures (weight, length or height /head circumference) and Body Mass Index (BMI) were measured on arrival (T0) and 6 (T1), 12 (T2) and 24 months (T3) after adoption. The results show moderate delays in physical growth on the children`s arrival into the adoptive family and a significant catch-up growth in all auxological parameters from Tsub0/subto Tsub3/sub. This is one of few Italian studies that points out a positive change in trajectories of growth after child adoption.