RESUMO
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.
Assuntos
Acidente Vascular Cerebral/diagnóstico , Adolescente , Algoritmos , Criança , Pré-Escolar , Protocolos Clínicos , Árvores de Decisões , Diagnóstico Precoce , Escore de Alerta Precoce , Serviço Hospitalar de Emergência , Feminino , Humanos , Lactente , Masculino , Neuroimagem , Guias de Prática Clínica como Assunto , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Adulto JovemRESUMO
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.
Assuntos
Doenças do Sistema Nervoso Central/diagnóstico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Doenças do Sistema Nervoso Central/genética , Criança , Pré-Escolar , Feminino , Mutação em Linhagem Germinativa , Humanos , Linfo-Histiocitose Hemofagocítica/genéticaRESUMO
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.
Assuntos
Cognição/fisiologia , Imagem de Difusão por Ressonância Magnética/métodos , Técnica de Fontan , Cardiopatias Congênitas/psicologia , Processamento de Imagem Assistida por Computador , Substância Branca/diagnóstico por imagem , Adolescente , Criança , Feminino , Cardiopatias Congênitas/cirurgia , Humanos , Masculino , Período Pós-Operatório , Estudos Retrospectivos , Substância Branca/crescimento & desenvolvimento , Adulto JovemRESUMO
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.
Assuntos
Doenças Placentárias/patologia , Placenta/patologia , Acidente Vascular Cerebral/etiologia , Estudos de Casos e Controles , Corioamnionite/patologia , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Placenta/irrigação sanguínea , Gravidez , Estudos Retrospectivos , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/patologia , Malformações Vasculares/embriologiaRESUMO
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.
Assuntos
Transtornos Mentais/epidemiologia , Tetralogia de Fallot/psicologia , Adolescente , Estudos Transversais , Feminino , Humanos , Testes de Inteligência , Masculino , Pais , Prevalência , Psicometria , Fatores de Risco , AutorrelatoRESUMO
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.
Assuntos
Cardiopatias Congênitas/cirurgia , Desenvolvimento da Linguagem , Imageamento por Ressonância Magnética/métodos , Substância Branca/diagnóstico por imagem , Substância Branca/crescimento & desenvolvimento , Desenvolvimento Infantil/fisiologia , Pré-Escolar , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/mortalidade , Humanos , Lactente , Recém-Nascido , Modelos Lineares , Masculino , Testes Neuropsicológicos , Tamanho do Órgão , Valor Preditivo dos Testes , Prognóstico , Valores de Referência , Taxa de Sobrevida , Cirurgia Torácica/métodosRESUMO
OBJECTIVES: To investigate the long-term impact of early-term birth (37-38 weeks' gestation) relative to full-term birth (≥39 weeks' gestation) on neurodevelopmental and psychiatric outcomes in adolescents with single-ventricle congenital heart disease (CHD). STUDY DESIGN: This cross-sectional cohort study analyzed retrospective medical records from full term adolescents with single-ventricle CHD who underwent the Fontan procedure. Participants underwent neurodevelopmental and psychiatric evaluations, as well as structural brain magnetic resonance imaging. Early-term born adolescents were compared with full-term born adolescents using regression models with adjustments for family social status, birth weight, and genetic abnormality status. Medical and demographic risk factors were examined as well. RESULTS: Compared with the full-term group (n = 100), adolescents born early term (n = 33) scored significantly worse on daily-life executive functions, as measured by the Behavior Rating Inventory of Executive Function parent-report (mean scores: early term, 62.0 ± 10.9; full-term, 55.6 ± 12.2; P = .009) and self-report (P = .02) composites. Adolescents born early term were more likely than those born full term to have a lifetime attention-deficit/hyperactivity disorder (ADHD) diagnosis (early term, 55%; full term, 26%; P = .001). The early-term group also displayed greater psychiatric symptom severity, as indicated by the clinician-reported Brief Psychiatric Rating Scale (mean score: early term, 16.1 ± 8.6; full-term, 12.5 ± 8.2; P = .007). CONCLUSION: Early-term birth is associated with greater prevalence of executive dysfunction, ADHD diagnosis, and psychiatric problems in adolescents with single-ventricle CHD. Early-term birth should be included as a potential risk factor in the algorithm for closer developmental surveillance in CHD.
Assuntos
Técnica de Fontan , Cardiopatias Congênitas/cirurgia , Ventrículos do Coração/anormalidades , Ventrículos do Coração/cirurgia , Transtornos Mentais/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Estudos de Coortes , Estudos Transversais , Função Executiva , Feminino , Idade Gestacional , Humanos , Masculino , Nascimento a TermoRESUMO
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.
Assuntos
Substância Cinzenta/patologia , Imageamento por Ressonância Magnética , Transposição dos Grandes Vasos/complicações , Adolescente , Feminino , Humanos , Masculino , Adulto JovemRESUMO
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.
Assuntos
Cognição , Transposição dos Grandes Vasos/fisiopatologia , Substância Branca/patologia , Adolescente , Anisotropia , Cognição/fisiologia , Imagem de Difusão por Ressonância Magnética , Imagem de Tensor de Difusão , Função Executiva , Feminino , Humanos , Masculino , Testes NeuropsicológicosRESUMO
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.