Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis.

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder characterized by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, leading to the toxic accumulation of leucine, isoleucine and valine. Acute encephalopathy (AE) is a severe neurological disorder with diverse etiologies, demanding prompt identification and intervention. We present a unique case of a previously healthy teenage patient who developed AE during an influenza infection. Despite initial inconclusive investigations, the patient's condition rapidly deteriorated, requiring pediatric intensive care unit (PICU) admission. Diagnostic challenges included fluctuating mental status and refractory intracranial hypertension, ultimately necessitating decompressive craniectomy. Empirical treatments, including corticosteroids, tocilizumab, and plasmapheresis, were administered. Finally, clinical exome analysis revealed a pathogenic variant in homozygosity in the BCKDHA gene associated with MSUD type Ia. Her adult sister, experiencing similar symptoms in the same time period, did not survive. This case underscores the importance of considering metabolic disorders in AE etiology, even accounting for its various associated syndromes and usual prolonged diagnostic investigation, as prompt treatment initiation is vital for improved outcomes. Management of AE involves addressing seizures, systemic support and neuromonitoring, namely, intracranial pressure monitoring. Inborn errors of metabolism, like MSUD, should be considered, even if universally screened, as delayed diagnosis can result in prolonged hospitalization and significant morbidity.

Predictors of poor neurodevelopmental outcomes of very preterm and very low birth weight infants.

BACKGROUND: Despite recent improvements, premature infants remain at high risk for long-term morbidity and poorer neurodevelopment, particularly very preterm (VP) and very low birth weight (VLBW). The aim of this study was to describe neurodevelopmental outcomes at two years and identify potential predictors of worse performance. METHODS: In a retrospective cohort, a two-years' neurodevelopmental evaluation was analyzed. Multivariable regressions were used to study the association of perinatal history with neurodevelopmental outcomes. Subjects included VP and/or VLBW born at a Portuguese III-level perinatal center between 2011-2017. Milestones outcomes were assessed using the Griffiths' Mental Development Scales. RESULTS: One hundred seventy-seven infants were included. Two-years milestones were not achieved in 18.6% in language domain and 7.3% in motor function, 4.5% wore glasses and 1.1% auditory prosthesis/cochlear implant. Almost 30% needed intervention, 18.6% occupational therapy, 16.4% physiotherapy and 13.6% speech therapy. Griffiths' Mental Development Scales was performed in 139, with a mean global quotient of 98.3 and hearing/speech as the least quoted scale. Global development delay (GDD) was present in 14.8% and cerebral palsy in 2.8%. Multivariate analysis by logistic regression adjusted to gestational age, birth weight and confounding variables, revealed a statistically significant association between GDD and hydrocephalus with shunt/reservoir (OR:19.01), retinopathy of prematurity stage ≥2 (OR:7.86) and neonatal sepsis (OR:3.34). CONCLUSIONS: Consistent with recent studies, preterm are at increased risk of neurodevelopmental impairment, mainly due to GDD and language delay, rather than cerebral palsy. In this population, hydrocephalus, retinopathy of prematurity and neonatal sepsis were strongly associated with poorer outcomes. Insight into these factors is essential to refer patients for specific early intervention programs.

Impacto de la COVID-19 en niños con trastorno del espectro autista / The impact of COVID-19 on children with autism spectrum disorder

INTRODUCCIÓN: Los niños con trastorno del espectro autista (TEA) a menudo experimentan el cambio de rutinas como un desafío importante. La necesidad de adaptación durante la pandemia por la COVID-19 puede haber causado problemas a estos niños. OBJETIVO: Conocer cómo vivieron los niños con TEA y sus familias el aislamiento social durante la cuarentena. Sujetos y métodos. Se realizó un estudio observacional, transversal y analítico. Se aplicó un cuestionario anónimo que incluía las características demográficas y clínicas de los niños, junto con el impacto que tuvo la pandemia en diferentes aspectos de la vida diaria de las familias. RESULTADOS: De los 99 cuestionarios obtenidos, 43 eran niños con TEA y 56 niños del grupo control. Los niños con TEA tuvieron predominantemente cambios en el comportamiento, a diferencia de los del grupo control. La mayoría de los niños con TEA tuvo un impacto negativo en el manejo de las emociones frente a los del grupo control, que expresaron un impacto mayoritariamente positivo/nulo. Los cuidadores puntuaron niveles de ansiedad más altos en ellos mismos que en sus hijos. Los niños con TEA y sus padres tenían niveles más altos de ansiedad que los controles. En el grupo con TEA, los niños que no mantuvieron las rutinas tuvieron niveles de ansiedad más altos. CONCLUSIÓN: Los resultados muestran un potencial impacto psicológico de la pandemia de la COVID-19 no sólo en los niños con trastornos del neurodesarrollo, sino también en sus cuidadores. Debe estarse preparado para la vigilancia de los trastornos mentales en las familias tras la pandemia de la COVID-19

INTRODUCTION. Children with autism spectrum disorder (ASD) often experience changing routines as a major challenge. For that reason, the need for adaptation during COVID-19 pandemic may have brought major problems to families with children with this pathology. AIM. To explore how children with ASD and their parents experienced the social isolation during COVID-19 outbreak period. SUBJECTS AND METHODS. We conducted an observational, cross-sectional and analytical study. We applied an anonymous questionnaire that included children’s demographic and clinical characteristics, along with the impact of the COVID-19 outbreak in different aspects of family’s daily life. RESULTS. Out of 99 questionnaires obtained, 43 were related to children with ASD and 56 to control group. Children with ASD predominantly had changes in behavior, while children from control group mostly found no changes. The majority of parents of ASD children reported a negative impact in emotion management against those in control group reporting mostly positive or no impact. Caregivers reported higher mean scores of anxiety levels in themselves than in their children. ASD children and their parents had higher levels of anxiety than healthy ones. In the group with ASD, children that did not maintain routines had higher mean levels of anxiety than children that maintained routines. CONCLUSION. Our results show a potential important psychological impact of the COVID-19 pandemic not only in children with neurodevelopmental disorders but in their caregivers as well. Physicians must be prepared for the post-pandemic surveillance of mental disorders among families