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1.
J Pediatr ; 216: 136-141.e6, 2020 01.
Artículo en Inglés | MEDLINE | ID: mdl-31704052

RESUMEN

OBJECTIVE: To determine whether a stroke alert system decreases the time to diagnosis of children presenting to the emergency department (ED) with acute-onset focal neurologic deficits. STUDY DESIGN: We performed a retrospective comparison of clinical and demographic information for patients who presented to the ED of a tertiary children's hospital with acute-onset focal neurologic deficits during the 2.5 years before (n = 14) and after (n = 65) the implementation of a stroke alert system. The primary outcome was the median time to neuroimaging analyzed using a Wilcoxon rank-sum test. RESULTS: The median time from ED arrival to neuroimaging for patients with acute-onset focal neurologic deficits decreased significantly after implementation of a stroke alert system (196 minutes; IQR, 85-230 minutes before [n = 14] vs 82 minutes; IQR, 54-123 minutes after [n = 65]; P < .01). Potential intravenous tissue plasminogen activator candidates experienced the shortest time to neuroimaging after implementation of a stroke alert system (54 minutes; IQR, 34-66 minutes [n = 13] for intravenous tissue plasminogen activator candidates vs 89.5 minutes; IQR, 62-126.5 minutes [n = 52] for non-intravenous tissue plasminogen activator candidates; P < .01). CONCLUSIONS: A stroke alert system decreases the median time to diagnosis by neuroimaging of children presenting to the ED with acute-onset focal neurologic deficits by more than one-half. Such a protocol constitutes an important step in ensuring that a greater proportion of children with arterial ischemic stroke are diagnosed in a time frame that enables hyperacute treatment.


Asunto(s)
Accidente Cerebrovascular/diagnóstico , Adolescente , Algoritmos , Niño , Preescolar , Protocolos Clínicos , Árboles de Decisión , Diagnóstico Precoz , Puntuación de Alerta Temprana , Servicio de Urgencia en Hospital , Femenino , Humanos , Lactante , Masculino , Neuroimagen , Guías de Práctica Clínica como Asunto , Estudios Retrospectivos , Accidente Cerebrovascular/diagnóstico por imagen , Adulto Joven
2.
Neurol Neuroimmunol Neuroinflamm ; 6(3): e560, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-31044148

RESUMEN

Objective: To highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL). Methods: Retrospective chart review. Results: Patients with CNS-FHL are characterized by chronic inflammation restricted to the CNS that is not attributable to any previously described neuroinflammatory etiology and have germline mutations in known FHL-associated genes with no signs of systemic inflammation. Hematopoietic stem cell transplantation (HCT) can be well tolerated and effective in achieving or maintaining disease remission in patients with CNS-FHL. Conclusions: Early and accurate diagnosis followed by treatment with HCT can reduce morbidity and mortality in CNS-FHL, a novel, treatable syndrome. Classification of evidence: This study provides Class IV evidence that HCT is well tolerated and effective in treating CNS-FHL.


Asunto(s)
Enfermedades del Sistema Nervioso Central/diagnóstico , Linfohistiocitosis Hemofagocítica/diagnóstico , Enfermedades del Sistema Nervioso Central/genética , Niño , Preescolar , Femenino , Mutación de Línea Germinal , Humanos , Linfohistiocitosis Hemofagocítica/genética
3.
J Pediatr ; 200: 140-149.e4, 2018 09.
Artículo en Inglés | MEDLINE | ID: mdl-29934026

RESUMEN

OBJECTIVE: To compare white matter microstructure in children and adolescents with single ventricle who underwent the Fontan procedure with healthy controls, and to explore the association of white matter injury with cognitive performance as well as patient and medical factors. STUDY DESIGN: Fontan (n = 102) and control subjects (n = 47) underwent diffusion tensor imaging (DTI) at ages 10-19 years. Mean DTI measures (fractional anisotropy, radial diffusivity, axial diffusivity, and mean diffusivity) were calculated for 33 fiber tracts from standard white matter atlases. Voxel-wise group differences in DTI measures were assessed using Tract-Based Spatial Statistics. Associations of regional fractional anisotropy with IQ and processing speed as well as medical characteristics were examined. RESULTS: Subjects with Fontan, compared with controls, had reduced bilateral regional and voxel-wise fractional anisotropy in multiple white matter tracts along with increased regional radial diffusivity in several overlapping tracts; regional mean diffusivity differed in 2 tracts. The groups did not differ in voxel-wise radial diffusivity or mean diffusivity. Among subjects with Fontan, fractional anisotropy in many tracts correlated positively with Full-Scale Intelligence Quotient and processing speed, although similar findings were absent in controls. Lower mean fractional anisotropy in various tracts was associated with more complications in the first operation, a greater number of total operations, and history of neurologic event. CONCLUSIONS: Children and adolescents who have undergone the Fontan procedure have widespread abnormalities in white matter microstructure. Furthermore, white matter microstructure in several tracts is associated with cognitive performance and operative and medical history characteristics.


Asunto(s)
Cognición/fisiología , Imagen de Difusión por Resonancia Magnética/métodos , Procedimiento de Fontan , Cardiopatías Congénitas/psicología , Procesamiento de Imagen Asistido por Computador , Sustancia Blanca/diagnóstico por imagen , Adolescente , Niño , Femenino , Cardiopatías Congénitas/cirugía , Humanos , Masculino , Periodo Posoperatorio , Estudios Retrospectivos , Sustancia Blanca/crecimiento & desarrollo , Adulto Joven
4.
J Pediatr ; 195: 39-47.e5, 2018 04.
Artículo en Inglés | MEDLINE | ID: mdl-29397159

RESUMEN

OBJECTIVE: To assess the association of placental abnormalities with neonatal stroke. STUDY DESIGN: This retrospective case-control study at 3 academic medical centers examined placental specimens for 46 children with neonatal arterial or venous ischemic stroke and 99 control children without stroke, using a standard protocol. Between-group comparisons used χ2 and Fisher exact t test. Correlations used Spearman correlation coefficient. RESULTS: Case placentas were more likely than controls to meet criteria for ≥1 of 5 major categories of pathologic abnormality (89% vs 62%; OR, 5.1; 95% CI, 1.9-14.0; P = .0007) and for ≥2 categories (38% vs 8%; OR, 7.3; 95% CI, 2.9-19.0; P < .0001). Fetal vascular malperfusion occurred in 50% of cases and 17% of controls (OR, 4.8; 95% CI, 2.2-10.5; P = .0001). Amniotic fluid inflammation occurred in 46% of cases with arterial ischemic stroke vs 25% of controls (OR, 2.6; 95% CI, 1.1-6.1; P = .037). There was evidence of a "stress response" (meconium plus elevated nucleated red blood cells) in 24% of cases compared with 1% of controls (OR, 31; 95% CI, 3.8-247.0; P < .0001). CONCLUSIONS: Placental abnormality was more common in children with neonatal stroke compared with controls. All placental findings represent subacute-to-chronic intrauterine stressors. Placental thrombotic processes were associated with both arterial and venous stroke. Our findings provide evidence for specific mechanisms that may predispose to acute perinatal stroke. Amniotic fluid inflammation associated with neonatal arterial ischemic stroke deserves further investigation.


Asunto(s)
Enfermedades Placentarias/patología , Placenta/patología , Accidente Cerebrovascular/etiología , Estudios de Casos y Controles , Corioamnionitis/patología , Femenino , Humanos , Recién Nacido , Imagen por Resonancia Magnética , Placenta/irrigación sanguínea , Embarazo , Estudios Retrospectivos , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/patología , Malformaciones Vasculares/embriología
5.
J Pediatr ; 187: 165-173, 2017 08.
Artículo en Inglés | MEDLINE | ID: mdl-28533034

RESUMEN

OBJECTIVES: To assess psychiatric disorders and function in adolescents with repaired tetralogy of Fallot (TOF) without and with a genetic diagnosis and to evaluate associations of functioning with medical factors, IQ, and demographics. STUDY DESIGN: Adolescents with TOF (n = 91) and 87 healthy referents completed a clinician-rated structured psychiatric interview, parent-/self-report measures of psychopathology, and brain magnetic resonance imaging. Twenty-three of the adolescents with TOF had a known genetic diagnosis. RESULTS: The prevalence of anxiety disorders did not differ significantly between adolescents with TOF without genetic diagnosis (n = 68) and referents. Adolescents with TOF and a genetic diagnosis showed an increased lifetime prevalence of anxiety disorder (43%) and lower global psychosocial functioning (median, 70; IQR, 63-75) compared with adolescents with TOF without genetic diagnosis (15% and 83; IQR, 79-87, respectively; P = .04 and <.001, respectively) and referents (6% and 85; IQR, 76-90, respectively; P = .001 and <.001, respectively). Adolescents with TOF without and with a genetic diagnosis had a higher lifetime prevalence of attention deficit-hyperactivity disorder (ADHD) than referents (19% and 39%, respectively, vs 5%; P = .04 and .002, respectively) and worse outcomes on parent-/self-report ratings of anxiety and disruptive behavior compared with referents. Risk factors for anxiety, ADHD, and lower psychosocial functioning for adolescents with TOF without a genetic diagnosis included older age, male sex, and low IQ. Medical variables were not predictive of psychiatric outcomes. CONCLUSION: Adolescents with TOF, particularly those with a genetic diagnosis, show increased rates of psychiatric disorder and dysfunction. Continued mental health screening and surveillance into young adulthood is warranted for adolescents with TOF.


Asunto(s)
Trastornos Mentales/epidemiología , Tetralogía de Fallot/psicología , Adolescente , Estudios Transversales , Femenino , Humanos , Pruebas de Inteligencia , Masculino , Padres , Prevalencia , Psicometría , Factores de Riesgo , Autoinforme
6.
J Pediatr ; 181: 42-48.e2, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-27837950

RESUMEN

OBJECTIVE: To determine whether brain volume is reduced at 1 year of age and whether these volumes are associated with neurodevelopment in biventricular congenital heart disease (CHD) repaired in infancy. STUDY DESIGN: Infants with biventricular CHD (n = 48) underwent brain magnetic resonance imaging (MRI) and neurodevelopmental testing with the Bayley Scales of Infant Development-II and the MacArthur-Bates Communicative Development Inventories at 1 year of age. A multitemplate based probabilistic segmentation algorithm was applied to volumetric MRI data. We compared volumes with those of 13 healthy control infants of comparable ages. In the group with CHD, we measured Spearman correlations between neurodevelopmental outcomes and the residuals from linear regression of the volumes on corrected chronological age at MRI and sex. RESULTS: Compared with controls, infants with CHD had reductions of 54 mL in total brain (P = .009), 40 mL in cerebral white matter (P <.001), and 1.2 mL in brainstem (P = .003) volumes. Within the group with CHD, brain volumes were not correlated with Bayley Scales of Infant Development-II scores but did correlate positively with MacArthur-Bates Communicative Development Inventory language development. CONCLUSIONS: Infants with biventricular CHD show total brain volume reductions at 1 year of age, driven by differences in cerebral white matter. White matter volume correlates with language development, but not broader developmental indices. These findings suggest that abnormalities in white matter development detected months after corrective heart surgery may contribute to language impairment. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00006183.


Asunto(s)
Cardiopatías Congénitas/cirugía , Desarrollo del Lenguaje , Imagen por Resonancia Magnética/métodos , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/crecimiento & desarrollo , Desarrollo Infantil/fisiología , Preescolar , Femenino , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/mortalidad , Humanos , Lactante , Recién Nacido , Modelos Lineales , Masculino , Pruebas Neuropsicológicas , Tamaño de los Órganos , Valor Predictivo de las Pruebas , Pronóstico , Valores de Referencia , Tasa de Supervivencia , Cirugía Torácica/métodos
7.
J Pediatr ; 169: 36-43.e1, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26553098

RESUMEN

OBJECTIVE: To investigate the structural brain characteristics of adolescent patients with d-transposition of the great arteries (d-TGA), repaired with the arterial switch operation in early infancy, using quantitative volumetric magnetic resonance imaging. STUDY DESIGN: Ninety-two patients with d-TGA from the Boston Circulatory Arrest Study (76% male; median age at scan 16.1 years) and 49 control subjects (41% male; median age at scan 15.7 years) were scanned using a 1.5-Tesla magnetic resonance imaging system. Subcortical and cortical gyral volumes and cortical gyral thicknesses were measured using surface-based morphometry. Group differences were assessed with linear regression. RESULTS: Compared with controls, patients with d-TGA demonstrated significantly reduced subcortical volumes bilaterally in the striatum and pallidum. Cortical regions that showed significant volume and thickness differences between groups were distributed throughout parietal, medial frontoparietal, cingulate, and temporal gyri. Among adolescents with d-TGA, volumes and thicknesses correlated with several perioperative variables, including age at surgery, cooling duration, total support time, and days in the cardiac intensive care unit. CONCLUSIONS: Adolescents with d-TGA repaired early in life exhibit widespread differences from control adolescents in gray matter volumes and thicknesses, particularly in parietal, midline, and subcortical brain regions, corresponding to white matter regions already known to demonstrate altered microstructure. These findings complement observations made in white matter in this group and suggest that the adolescent d-TGA cognitive profile derives from altered brain development involving both white and gray matter.


Asunto(s)
Sustancia Gris/patología , Imagen por Resonancia Magnética , Transposición de los Grandes Vasos/complicaciones , Adolescente , Femenino , Humanos , Masculino , Adulto Joven
8.
J Pediatr ; 165(5): 936-44.e1-2, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25217200

RESUMEN

OBJECTIVE: To describe the relationship between altered white matter microstructure and neurodevelopment in children with dextro-transposition of the great arteries (d-TGA). STUDY DESIGN: We report correlations between regional white matter microstructure as measured by fractional anisotropy (FA) and cognitive outcome in a homogeneous group of adolescents with d-TGA. Subjects with d-TGA (n = 49) and controls (n = 29) underwent diffusion tensor imaging and neurocognitive testing. In the group with d-TGA, we correlated neurocognitive scores with FA in 14 composite regions of interest in which subjects with d-TGA had lower FA than controls. RESULTS: Among the patients with d-TGA, mathematics achievement correlated with left parietal FA (r = 0.39; P = .006), inattention/hyperactivity symptoms correlated with right precentral FA (r = -0.39; P = .006) and left parietal FA (r = -0.30; P = .04), executive function correlated with right precentral FA (r = -0.30; P = .04), and visual-spatial skills correlated with right frontal FA (r = 0.30; P = .04). We also found an unanticipated correlation between memory and right posterior limb of the internal capsule FA (r = 0.29; P = .047). CONCLUSION: Within the group with d-TGA, regions of reduced white matter microstructure are associated with cognitive performance in a pattern similar to that seen in healthy adolescents and adults. Diminished white matter microstructure may contribute to cognitive compromise in adolescents who underwent open-heart surgery in infancy.


Asunto(s)
Cognición , Transposición de los Grandes Vasos/fisiopatología , Sustancia Blanca/patología , Adolescente , Anisotropía , Cognición/fisiología , Imagen de Difusión por Resonancia Magnética , Imagen de Difusión Tensora , Función Ejecutiva , Femenino , Humanos , Masculino , Pruebas Neuropsicológicas
9.
J Pediatr ; 165(4): 760-6, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25063716

RESUMEN

OBJECTIVE: To compare adolescents with d-transposition of the great arteries (d-TGA) with healthy adolescents with respect to prevalence of psychiatric disorders and global psychosocial functioning. STUDY DESIGN: Subjects, consisting of 139 adolescents with d-TGA (16.1 ± 0.5 years) and 61 healthy adolescents (15.3 ± 1.1 years) without known risk factors for brain disorders, underwent a battery of assessments, including semistructured psychiatric interviews; self-report measures of depressive, anxiety, and disruptive behavior symptoms; and brain magnetic resonance imaging. Previous cognitive functioning and parental stress assessments at age 8 as well as parental post-traumatic stress at age 16 years were explored as potential risk factors predictive of overall psychiatric functioning. RESULTS: Compared with healthy adolescents, adolescents with d-TGA had higher lifetime prevalence of structured interview-derived attention-deficit/hyperactivity disorder (19% vs 7%, P = .03), along with reduced global psychosocial functioning (80.6 ± 11.2 vs 87.2 ± 7.1, P < .001) as well as significant increases in self-reported depressive (P = .01), anxiety (P = .02), and disruptive behavior symptoms (parent P < .001 and adolescent P = .03). Nevertheless, these youth scored in the nonclinical range on all self-report measures. Level of global psychosocial functioning was positively related to cognitive functioning (P < .001) and negatively related to parental stress (P = .008). CONCLUSIONS: Although adolescents with d-TGA demonstrate significant resilience to known neuropsychological and academic deficits, they show increased rates of attention-deficit/hyperactivity disorder and reduced psychosocial functioning. Impaired cognitive functioning and parental stress at younger age emerged as significant risk factors for psychiatric impairment.


Asunto(s)
Trastornos Mentales/fisiopatología , Trastornos Mentales/psicología , Transposición de los Grandes Vasos/fisiopatología , Transposición de los Grandes Vasos/psicología , Adolescente , Conducta , Encéfalo/patología , Estudios de Casos y Controles , Niño , Cognición , Trastornos del Conocimiento , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Trastornos Mentales/complicaciones , Prevalencia , Factores de Riesgo , Trastornos por Estrés Postraumático/complicaciones , Estrés Psicológico , Transposición de los Grandes Vasos/complicaciones
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