Evolución neurológica, neuropsicológica y oftalmológica tras un año de suplementación con ácido docosahexaenoico en pacientes fenilcetonúricos / Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

Introducción. La fenilcetonuria (PKU) es una enfermedad metabólica autosómica recesiva causada por la deficiencia defenilalanina hidroxilasa. El tratamiento dietético de la PKU consiste en la restricción de alimentos ricos en proteínas, loque afecta la ingestión de lípidos de los pacientes y distorsiona la relación n-3:n-6 de ácidos grasos esenciales en la dieta. Esta deficiencia puede contribuir al deterioro neurológico y visual de los pacientes. Objetivo. Evaluar los cambios en las alteraciones de la sustancia blanca, potenciales evocados visuales (PEV) y rendimiento en funciones ejecutivas y motrices en pacientes con PKU tratados precozmente tras la suplementación con ácidodocosahexaenoico (DHA).Pacientes y métodos. Se seleccionaron 21 pacientes con PKU (edad: 9-25 años), con dieta restringida en fenilalanina. Loscriterios de inclusión fueron: valores bajos de DHA eritrocitaria, retraso de latencias de la onda P100 en PEV o presencia dehiperintensidad de sustancia blanca en la resonancia magnética (RM) cerebral, y cociente intelectual > 80. Los pacientes se suplementaron con DHA (10 mg/kg/día) durante 12 meses. La evaluación se realizó al inicio del estudio y a los 12 mesesde tratamiento, e incluyó parámetros bioquímicos, RM, PEV, evaluación oftalmológica y pruebas neuropsicológicas. Resultados y conclusión. Los pacientes normalizaron los niveles de DHA tras la suplementación. La mejora en las latencias de la onda P100 y la motricidad fina fue significativa. No se evidenciaron cambios en las otras exploraciones tras el tratamiento. Es necesario proseguir la investigación para establecer una relación causa-efecto entre el tratamiento con DHA y la mejoría observada en algunas funciones neurológicas (AU)

Introduction. Phenylketonuria (PKU) is an autosomal recessive metabolic disease caused by a deficiency of phenylalanine hydroxylase. The dietary therapy for the effective management of PKU, in particular the restriction of high-protein foodsof animal-origin, compromises patients’ intake of fat and distorts the n-3:n-6 ratio of essential fatty acids in the diet. This deficiency can contribute to neurological and visual impairment. Aim. To evaluate changes in white matter alterations, visual evoked potential (VEP) latences and performance in executive and motor functions in a group of early and continuously treated PKU patients after supplementation with docosahexaneoic acid (DHA).Patients and methods. We selected 21 PKU patients with early diagnosis (age range: 9-25 years), on a Phe-restricted diet and supplemented with PKU formula. Inclusion criteria were: low erythrocyte DHA values, prolonged P100 wave latencies in VEP and/or presence of white matter hyperintensities on brain magnetic resonance imaging (MRI), and intellectual quotient > 80. All patients were treated with DHA (10 mg/kg/day) for 12 months. Assessment was conducted at baseline and after 12 months of treatment, and included biochemical parameters, brain MRI, VEP, ophthalmologic evaluation andneuropsychological tests.Results and conclusion. All the patients normalized the DHA levels after supplementation. Improvement in the P100 wavelatencies, and fine motor skills was significant. No significant improvement in the other explorations was evident aftersupplementation. Further investigations seem advisable to establish a cause-effect relationship between DHA treatmentand the slight improvement observed in some neurological functions (AU)

Assessment of parental report for 2009-2010 seasonal and monovalent H1N1 influenza vaccines among children in the emergency department or hospital.

OBJECTIVE: To assess the validity of parental report for seasonal and monovalent H1N1 influenza vaccinations among children 6 months to <18 years who were recommended to receive both vaccines in 2009-2010. METHODS: Children with fever or respiratory symptoms were prospectively enrolled in both emergency departments in Forsyth County, North Carolina, and the only pediatric hospital in the region. Enrollment occurred from September 1, 2009, through April 12, 2010, during the H1N1 influenza pandemic. A parental questionnaire was administered by trained interviewers to ascertain the status of seasonal and monovalent H1N1 influenza vaccines. Parental report was compared with that documented in the medical record and/or the North Carolina immunization registry. RESULTS: Among 297 enrolled children 6 months to <18 years of age, 174 (59%) were 6 months to 4 years, 67 (23%) were 5-8 years, and 56 (19%) were 9 to <18 years. Parents reported that 140 (47%) children had received ≥1 dose of 2009-2010 influenza vaccine-128 (43%) for seasonal vaccine and 63 (21%) for H1N1 vaccine. Confirmed vaccination data indicated that 156 (53%) children had received ≥1 dose of any 2009-2010 vaccine-120 (40%) for seasonal vaccine and 53 (18%) for H1N1 vaccine. Parental report of any seasonal influenza vaccination was 92% sensitive and 86% specific and had a kappa of 0.76. Parental report for any H1N1 influenza vaccination was 88% sensitive and 92% specific with a kappa of 0.71. CONCLUSIONS: Parental report of 2009-2010 seasonal and monovalent H1N1 influenza vaccinations was sensitive and specific and had reasonable agreement with the medical record and/or immunization registry.