Perfil de desarrollo en una cohorte de muy bajo peso al nacimiento / Developmental profile of a cohort of very low birth weight

Introducción: Los estudios longitudinales realizados en niños que presentaron un peso al nacimiento inferior a 1.500 g (muy bajo peso al nacimiento [MBPN]) han demostrado la presencia de dificultades en la edad adulta que no son explicables por las variables clásicamente analizadas (inteligencia, sexo, etc.). Objetivos: Conocer las condiciones evolutivas de estos niños en diferentes momentos cronológicos y la capacidad predictiva de los controles iniciales en edades tempranas respecto a la edad escolar. Sujetos y método: Se realizó un estudio descriptivo en una cohorte de 317 niños con MBPN, nacidos entre 2001 y 2010 en la Unidad de Neonatología del Hospital General Universitario de Alicante, y se obtuvieron datos del perfil psicomotor e intelectual y de las alteraciones conductuales. Las evaluaciones se realizaron a los 20 y 28 meses de edad corregida, y a los 6,5 años. Resultados: Observamos una mayor presencia de niveles de desarrollo psicomotor en el límite inferior del promedio adecuado a la edad cronológica, cocientes intelectuales en el rango medio-bajo, mayor frecuencia de síntomas y signos de trastorno por déficit de atención e hiperactividad (TDAH), y la presencia de alteraciones cualitativas como posibles indicadores de trastornos del espectro autista (TEA). Los controles iniciales a la edad de 20 y 28 meses han resultado ser predictivos de la capacidad intelectual y los síntomas de probable TEA obtenidos a los 6 años. Conclusión: Cabe afirmar que la evolución posterior de estos niños está condicionada no tanto por los aspectos relacionados con la capacidad intelectual, como por la posibilidad de que presenten TDAH y/o TEA (AU)

Introduction: Longitudinal studies done in children who presented at birth a weight lower than 1,500 g (very low birth weight [VLBW]), have evidenced difficulties in their adulthood which cannot be explained by the classical analyzed variables (intelligence, gender, etc.). Objectives: To research the developmental conditions of these children in different chronological moments and find out the predictive capacity of the initial trials done at early ages regarding to the results at school age. Subjects and method: A descriptive study was carried out in a cohort of 317children with VLBW, born between 2001 and 2010, on the Neonatology Unit at the Hospital General Universitario de Alicante obtaining data of the psychomotor and intellectual profiles, and behavior disturbances. Evaluations had been done at the corrected age of 20 and 28 months, and 6.5 years. Results: We observed higher presence of: psychomotor quotients in the low border of the appropriate average for the chronological age, intelligent quotients in the medium-low range, higher frequency of symptoms and signs of attention deficit and hyperactive disorder (ADHD), and presence of qualitative disturbances which might indicate an autism spectrum disorder (ASD). Initial controls at the age of 20 and 28 months had shown they are predictors of the intellectual capacity and the possible symptoms of ADS obtained at the age of 6. Conclusion: It is likely to affirm that the later development of these children is compromised not as much by their intellectual capacity, as by for the possibility of being presenting ASD or ADHD (AU)

Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable / 15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity

Presentamos el caso de un niño con retraso psicomotor y rasgos dismórficos afectado de una microdeleción 15q11.2 de 1.5 Mb de origen paterno diagnosticada mediante array-based comparative genomic hybridization. La deleción está comprendida entre los puntos de rotura BP1-BP2 de la región crítica descrita para los síndromes Prader-Willi/Angelman. Comparamos las características clínicas de nuestro paciente con las halladas en los 10 casos de deleción puraBP1-BP2 descritos hasta la fecha (AU)

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by a CGH. The deletionis located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2deletion published to date (AU)

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]. / Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable.

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.

[Clinical course and prognostic factors in newborns with very low birth weight]. / Evolución y factores pronósticos en recién nacidos de muy bajo peso.

OBJECTIVE: We report the results of survival and incidence of neurodevelopmental sequelae in a group of 249 infants treated in our hospital between 1986-91, whose birth weight was under 1,500 grams. METHOD: We perform a follow-up at corrected ages of 3, 6, 10, 18, 36 months and 5 years thought results only included children followed until 18. Sequelae were classified in three groups, according to the disability degree. RESULTS: Survival resulted to be 69.87% (174), 38.7% for the group under 1,000 grams and 84.7% for those over 1,000 grams. Sequelae were present in 22.6% (11.6% moderate and 10.9% severe). The incidence of severe sequelae was very different on basis of the birth weight, 25.8% for children under 1,000 grams, 13.9% for 1,000-1,249 grams and 1.6% for 1,250-1,500 grams. CONCLUSIONS: Intracranial haemorrhage, hyperbilirubinemia, assisted ventilation and persistence of ductus arteriosus were significantly associated sequelae. We didn't find differences with respect to multiple pregnancy, seizures, sepsis or neonatal hypoxia.