Phenotype in patients with intellectual disability and pathological results in array CGH. / Fenotipo en pacientes con discapacidad intelectual y array-CGH patológico.

INTRODUCTION: Global developmental delay (GDD) and intellectual disability (ID) are frequent reasons for consultation in paediatric neurology departments. Nowadays, array comparative genomic hybridisation (array-CGH) is one of the most widely used techniques for diagnosing these disorders. Our purpose was to determine the phenotypic features associated with pathological results in this genetic test. METHODS: We conducted a blind study of the epidemiological, clinical, anthropometric, and morphological features of 80 patients with unexplained ID to determine which features were associated with pathological results in array-CGH. RESULTS: Pathological results were found in 27.5% of the patients. Factors associated with pathological results in array-CGH were a family history of GDD/ID (OR = 12.1), congenital malformations (OR = 5.33), having more than 3 facial dysmorphic features (OR = 20.9), and hypotonia (OR = 3.25). CONCLUSIONS: Our findings are consistent with those reported by other published series. We therefore conclude that the probability of having pathological results in array-CGH increases with the presence of any of the features mentioned above in patients with ID/GDD.

[Socio-cultural, obstetric and anthropometric characteristics of newborn children of mothers who smoke in Spain]. / Características socioculturales, obstétricas y antropométricas de los recién nacidos hijos de madre fumadora.

INTRODUCTION: One in every four women smoke at the beginning of the pregnancy in Spain; of these, 25-50% give up smoking during gestation and most of them smoke again after childbirth. Maternal smoking has harmful effects on babies, such as low birth-weight with its resulting morbidity. The objective of this study is to compare the anthropometric and socio-cultural characteristics between newborns from smoking mothers and those from non- smoking ones. MATERIALS AND METHODS: Smoking habits and the socio-cultural characteristics were assessed from a sample of 1499 pregnant women, as well as their newborn anthropometric variables of their newborn babies during 2009 in the Aragon region of Spain. RESULTS: In the sample of 1499 pregnant women the prevalence of smoking during pregnancy was 19.6%; among the Spanish women, 23% of them smoked during the gestation compared with only 11% in women from other countries. The smoker mothers were younger and they had a lower educational level than the non smoker ones; however, there were no statistical differences between their anthropometric characteristics. Newborns from smoker women in Aragon had a lower weigh at delivery (3155 vs. 3295 grams: p<.001) and a relative risk of low weight at birth for their gestational age of 2.1 (95% CI: 1.35 - 2.97). The length and the rest of newborn anthropometric variables were also affected. CONCLUSION: The prevalence of smoking during gestation is high in Aragon. The mothers who smoke are younger and have different socio-cultural characteristics compared with non-smoker mothers. Maternal smoking habits have a harmful effect on newborn nutritional status, representing an avoidable risk of low weight at birth.

[Is patent ductus arteriosus a risk factor for retinopathy of prematurity?]. / ¿Es la persistencia de ductus arterioso un factor de riesgo para la retinopatía del prematuro?

OBJECTIVE: To evaluate whether the presence of patent ductus arteriosus (PDA) increases the rate of retinopathy of prematurity (ROP) or its severity. PATIENTS AND METHOD: A consecutive cohort of premature infants diagnosed with PDA by echocardiography born in the Miguel Servet University Hospital from January 2006 to May 2009 was included in the study. We compared the rate and severity of ROP in this group of patients with a control group of randomly-chosen premature infants with a normal echocardiography. RESULTS: We evaluate a total of 131 premature infants (79 with PDA and 52 without PDA). We found a statistically significant association between the presence of PDA and the rate of ROP (p=0.03) (OR=2.41; 95% CI 1.08-5.38). However, using a multiple regression model adjusted for the gestational age (GA), a significant reverse association was found between ROP and GA (ß= -0.322; p=0.003), but there was no statistically significant correlation between ROP and PDA (p=0.073 for rate of ROP and a p=0.20 for stage of ROP). CONCLUSIONS: The presence of PDA does not increase the risk of developing ROP or its severity, once considered the effect of gestational age in PDA.