Background—Children with genetic disorders have multiple anatomical and physiological conditions that predispose them to obstructive sleep apnea syndrome (OSAS). They should have priority access to polysomnography (PSG) before establishing their therapeutic protocol. We analyzed the prevalence and the severity of OSAS in a particular group of children with genetic disorders and strengthened their need for a multidisciplinary diagnosis and adapted management. Methods—The retrospective analysis included children with genetic impairments and sleep disturbances that were referred for polysomnography. We collected respiratory parameters from sleep studies: apnea–hypopnea index (AHI), SatO2 nadir, end-tidal CO2, and transcutaneous CO2. Subsequent management included non-invasive ventilation (NIV) or otorhinolaryngological (ENT) surgery of the upper airway. Results—We identified 108 patients with neuromuscular disorders or multiple congenital anomalies. OSAS was present in 87 patients (80.5%), 3 of whom received CPAP, 32 needed another form of NIV during sleep, and 15 patients were referred for ENT surgery. The post-therapeutic follow-up PSG parameters confirmed the success of the treatment. Conclusions—The upper airway obstruction diagnostics and management for children with complex genetic diseases need a multidisciplinary approach. Early detection and treatment of sleep-disordered breathing in children with genetic disorders is a priority for improving their quality of life.

AbstractsMethods A questionnaire was administered that addressed gender, age, number of household members, monthly family income, history of jaundice and immunization, number of rooms in the house, education level of the parents, day-care/school attendance, and type of water supply. The socioeconomic status score of each child was determined by summing the scores for monthly family income, education level of the parents, number of rooms in the house and number of people living in the house. Blood samples were collected and analyzed for anti-HAV IgG. Results Significant associations between anti-HAV seropositivity and socioeconomic status, age under 6 years old and attending daycare, a history of jaundice and monthly family income were found (p<0.001, p=0.003, p<0.001, p=0.04, respectively). Only the association between the history of jaundice and anti-HAV seropositivity remained significant in the multivariate analysis, with an adjusted Odds ratio of 13.1 (range: 2.9-59.5; p=0.001). Conclusions Our findings showed an inverse correlation between HAV seropositivity and socioeconomic status. A high in-house population and paternal education level were not a significant factor increasing the risk of anti-HAV positivity. However, as the maternal education level increased, less HAV positivity was recorded. Background and Aims Toxoplasmosis is a cosmopolitan infection caused by Toxoplasma gondii, clinical features varying from asymptomatic infection to severe systemic manifestations. Brazil has one of the highest incidence rates of congenital toxoplasmosis in the world with estimated rates of 1:3000 live births. Knowledge of the incidence, etiology, pathogenesis, diagnosis and management of infections during pregnancy, childbirth and neonatal period is relevant because it may cause damage to the fetus and newborn, representing a public health problem worldwide. The aim of this study is evaluate the quality of neonatal screening for congenital toxoplasmosis. Methods Retrospective study based on data collected from the medical records of 39 newborns Alcides Carneiro Hospital (HAC) in Petropolis, Rio de Janeiro, Brazil, from July 2010 to February 2012 whose mothers had seroconversion for toxoplasmosis during pregnancy. We analyzed maternal serology and treatment and clinical manifestations, laboratory and radiological newborn. Results Forty percent of pregnant women under which seroconverted in the 3rd trimester of pregnancy, 33% at 2 and 13% in first trimester. Underwent treatment 35%, 15% and 0% respectively. There were no clinical manifestations of congenital toxoplasmosis, all showed negative IgM and IgG positive 62%. In imaging tests, 5% had changed transfontanel ultrasound (49% unknown), 1% fundoscopy losses (51% ignored), and skull radiography unchanged (23% ignored). Conclusion Given the survey data, we conclude that there was poor adherence to native implementation of adequate prenatal care, underestimation of suspected cases with disabilities in serological screening, limited availability of laboratory diagnosti...

Background and aimsSleep related breathing disorders (SRDB) are a cause for significant morbidity among children and adolescents. The aetiology is multifactorial and the treatment strategies address the mechanisms which underlie sleep breathing disorders. The recommendations for non-invasive ventilation (NIV) in children and adolescents with SRDB are well defined and their application increases the quality of life and prevents or delays complications.The percentage of Romanian children, aged between 18 months and 18 years, who are at risk for SRDB is 9.6% according to a study we conducted in 2015.The adenotonsillectomy is the first-line therapy for OSAS in children, but up to 50%–75% of the paediatric population may have residual IAH. The high risk for SRDB in our country represents the necessity to increase awareness about continuous positive airway pressure (CPAP) and NIV in paediatric patients and build up multidisciplinary teams.MethodsWe will present three cases. One of a 8-year-old girl with snoring and apnea during sleep. The symptoms have persisted even after adenoidectomy and the control polysomnography showed a residual IAH of more than 10/h.The second case and third case are sister and brother with early onset of congenital myopathy with impairment of facial muscles. The 9 y old girl with a history of sleep apnea, morning headaches, difficulty concentrating, tonsillectomy at age 4; her brother, 13 y old has similar symptoms. Venous blood gas analysis showed acidosis and hypoventilation with pH=7,22 and PCO2=69,8 mmHg for girl and pH=7,32 and PCO2=52,3 mmHg for her brother. The polysomnography also showed hypoventilation and mixt sleep apnea syndrome and after titration both received recommendation and started therapy with NIV bilevel therapy S/T mode with IPAP and EPAP according to tolerance.ResultsIn the first case the girl had a BMI=21,6 kg/m2 and after starting CPAP therapy the quality of sleep improved greatly and daytime symptoms diminished.The sister and brother with congenital myopathy showed improved quality of life after starting bilevel positive airway pressure (BiPAP) therapy with no headache and better results in school. The boy had a more difficult period of adaptation to the mask.ConclusionsThe development of paediatric sleep medicine in Romania needs to increase the level of awareness about all therapeutic options and build up multidisciplinary teams for the management of these issues.The CPAP therapy is an option for children with SRDB who don’t have a recommendation for adenotonsillectomy or don’t respond to the surgical treatment.Patients with neuromuscular diseases are at risk for respiratory complications as their condition deteriorates due to progressive loss of respiratory muscle strength. These complications include ineffective cough, nocturnal hypoventilation and ultimately daytime respiratory failure. Respiratory assessments need to include studies in search of nocturnal hypercapnia (awake end- tidal CO2) during sleep and pulse oximetry, in order to identify the right moment to ...

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