Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

BACKGROUND: KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been reported. Both loss-of-function sequence variants and large deletions (copy number variations, CNVs) involving ANKRD11 cause KBG syndrome, but no genotype-phenotype correlation has been reported. METHODS: 67 patients with KBG syndrome were assessed using a custom phenotypical questionnaire. Manifestations present in >50% of the patients and a 'phenotypical score' were used to perform a genotype-phenotype correlation in 340 patients from our cohort and the literature. RESULTS: Neurodevelopmental delay, macrodontia, triangular face, characteristic ears, nose and eyebrows were the most prevalentf (eatures. 82.8% of the patients had at least one of seven main comorbidities: hearing loss and/or otitis media, visual problems, cryptorchidism, cardiopathy, feeding difficulties and/or seizures. Associations found included a higher phenotypical score in patients with sequence variants compared with CNVs and a higher frequency of triangular face (71.1% vs 42.5% in CNVs). Short stature was more frequent in patients with exon 9 variants (62.5% inside vs 27.8% outside exon 9), and the prevalence of intellectual disability/attention deficit hyperactivity disorder/autism spectrum disorder was lower in patients with the c.1903_1907del variant (70.4% vs 89.4% other variants). Presence of macrodontia and comorbidities were associated with larger deletion sizes and hand anomalies with smaller deletions. CONCLUSION: We present a detailed phenotypical description of KBG syndrome in the largest series reported to date of 67 patients, provide evidence of a genotype-phenotype correlation between some KBG features and specific ANKRD11 variants in 340 patients, and propose updated clinical diagnostic criteria based on our findings.

Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions.

OBJECTIVE: The objective of this study was to develop a simple tool for general physicians to promptly identify and refer pediatric patients with a higher probability of having a genetic condition. STUDY DESIGN: This retrospective, descriptive study was conducted at a tertiary pediatric hospital's Clinical Genetics Unit from June 2019 to January 2020. We included patients under 18 years of age who visited the unit, excluding those without genetic testing. Epidemiological, clinical, and genetic variables were collected from electronic medical records. The primary outcome was the diagnosis of a genetic condition based on genetic testing. RESULTS: Among 445 patients, 304 were included; 163 (53.6%) were male, and mean age was 7.4 years (SD 5.1 years). A genetic condition was diagnosed in 139 patients (45.7%). Using a multiple logistic regression model, five variables significantly contributed to reaching a diagnosis: suspected diagnosis at referral (OR 3.45, P < 0.001), short stature (OR 3.11, P < 0.001), global developmental delay/intellectual disability (OR 2.65, P < 0.001), dysmorphic craniofacial features (OR 1.99, P = 0.035), and multiple congenital anomalies (OR 2.54, P = 0.033). The association strength (OR) increased when these variables were paired with each other. The study's findings are presented in the form of a triangle, known as the Clinical Genetics Assessment Triangle (CGAT), which summarizes the results. A decision tree model is applied to guide clinical department referrals based on the affected sides of the triangle. CONCLUSIONS: The CGAT has the potential to enable general physicians to promptly identify pediatric patients with an increased probability of having a genetic condition.

Impact of a Disaster Drill on Waiting Times in a Pediatric Emergency Department.

OBJECTIVE: Emergency departments should improve their preparedness for mass casualty incidents (MCIs) through periodic drills. These exercises are conducted while maintaining regular care. The aim of this study was to determine the impact of a disaster drill in a pediatric emergency department (PED) on real patients' waiting times. METHODS: On September 10, 2019, a 4-h disaster drill was conducted in the PED of a tertiary pediatric hospital, with minimal staff reinforcement (2 nurses). Cases were real patients that came to the PED during the drill. The patients that visited the PED the day before were the control group. Variables analyzed were: age, sex, destination, triage level, time-to-triage, time-to-physician, length of PED stay, and percentage of patients visited within the optimal time according to triage level. RESULTS: Sixty-eight patients (case group) and 63 patients (control group) were analyzed; both groups were comparable except for the median age. There were no differences in time-to-triage, time-to-physician, and length of PED stay between the 2 groups. The percentage of patients visited within optimal time according to triage level was higher in the case group. CONCLUSIONS: Conducting an MCI drill in the PED, with minimal staff reinforcement, was not detrimental to real patients' waiting times.

[Consultations for digestive foreign bodies ingestion in a pediatric emergency department.] / Consultas por ingestión de cuerpos extraños digestivos en unas urgencias pediátricas.

OBJECTIVE: Foreign body (FB) ingestion distresses many families who consult the emergency department promptly. The objective of the study is to determine the epidemiological characteristics of children who consult due to suspected FB intake and its consequences. METHODS: Descriptive-observational study, carried out in a third-level maternal and child center. Emergency reports were selected from patients under 18 years of age with a diagnosis of discharge "Ingesta CE" (code 938 CIM-9-MC until May 2018; code T18.9XXA CIM-10-MC later) from 1/1/2017 until 12/31/2018. Miscoded and reconsultations within the same episode were excluded. Data was analysed with the statistics program SPSS 25.0. RESULTS: 458 cases were included; median age 3.8 years (p25-75: 1.9-6.6 years); 267 (58.3%) males. 78.9% consulted in the first 6 hours after intake. Accidental cause was reported in 98.9% of cases. In 96.7% a single FB was ingested. The most frequent types of object were metallic (46.7%), plastics (16.4%) and food bones/shells (12.9%). The 23.6% of FB involved were sharp/pointed. 49.1% of the patients presented symptoms. A complementary test was performed in 69.4%, especially radiographs (63.5%). Metal detector was used in 10%. 9.6% required endoscopy. 90.4% were discharged from the emergency department, with 12.1% of reconsultations. CONCLUSIONS: Consultations for FB ingestion are relatively frequent in the emergency department and, although most of them are discharged, many patients require complementary tests and a non-negligible number, endoscopy. The patient's profile is that of a preschooler who spontaneously goes to the emergency room due to an accidental ingestion of a blunt metallic object.

OBJETIVO: La ingestión de un cuerpo extraño (CE) angustia a muchas familias que consultan con premura a Urgencias. El objetivo del estudio fue determinar las características epidemiológicas de los niños que consultaban por sospecha de ingesta de CE y sus consecuencias. METODOS: Se realizó un estudio descriptivo-observacional, realizado en un centro materno-infantil de tercer nivel. Se seleccionaron los informes de Urgencias de pacientes menores de 18 años con diagnóstico de alta por "Ingesta CE" (código 938 CIM-9-MC hasta mayo 2018; código T18.9XXA CIM-10-MC posteriormente) del 1/1/2017 al 31/12/2018. Los datos fueron analizados con el programa estadístico SPSS 25.0. RESULTADOS: Se incluyeron 458 casos. La edad mediana fue de 3,8 años (p25-75: 1,9-6,6 años); 267 personas (58,3%) fueron varones. El 78,9% consultaron durante las 6 horas posteriores a la ingesta. Refirieron causa accidental el 98,9% los casos. En el 96,7%, la ingesta fue de un único CE. Los objetos más frecuentes fueron metálicos (46,7%), plásticos (16,4%) y huesos/cáscaras de alimentos (12,9%). El 23,6% de CE implicados fueron afilados/puntiagudos. El 49,1% de los pacientes presentaron algún síntoma. Se realizó alguna prueba complementaria en un 69,4% de los casos, sobre todo radiografías (63,5%). Se usó el detector de metales en el 10%. El 9,6% precisó endoscopia. El 90,4% fue dado de alta desde Urgencias, con un 12,1% de reconsultas. CONCLUSIONES: Las consultas por ingestión de CE son relativamente frecuentes en Urgencias y, aunque la mayoría son dados de alta, muchos pacientes requieren pruebas complementarias, y un número no despreciable, necesita endoscopia. El perfil del paciente es el de un varón en edad preescolar que acude espontáneamente a Urgencias por ingesta accidental de un objeto romo metálico.

Predictores del estado de salud funcional posingreso en cuidados intensivos en pacientes sépticos / Predictors of Post-Admission Functional Health Status in Intensive Care in Septic Patients

Introducción: Los pacientes críticos pediátricos son susceptibles de presentar alteraciones del flujo sanguíneo cerebral que impliquen un deterioro de su estado de salud funcional. Objetivo: Identificar factores predictores de mayor riesgo de mala evolución funcional en pacientes pediátricos críticos con sepsis. Métodos: Se realizó un estudio de cohortes retrospectivo con menores de 18 años de edad con sepsis, ingresados en la unidad de cuidados intensivos pediátricos. Se recogieron variables epidemiológicas, clínicas y del estado de salud funcional previas al ingreso, al alta y a los 6 meses. El estado de salud funcional se evaluó mediante la escala de categorías de estado global y cerebral pediátrico. Se evaluó el cambio del estado funcional entre el ingreso y a los 6 meses del alta. Se realizó un análisis univariante para comparar grupos considerando el mal pronóstico y el cambio del estado funcional y su relación con las variables. Resultados: Se incluyeron 46 pacientes. A los 6 meses del alta, cuatro (8,7 por ciento) presentaron mal pronóstico funcional y ocho (17,4 por ciento) empeoramiento funcional respecto al ingreso. No se encontraron asociaciones entre las variables predictoras y la morbilidad, aunque se observó cierta tendencia en algunas como mayor soporte inotrópico (VIS > 20: 12,5 por ciento vs. 50 por ciento, p= 0,075), extracorpóreo y de reemplazo renal (25 por ciento vs. 2,6 por ciento, p= 0,074) y estancia hospitalaria más prolongada (50 por ciento vs. 15,8 por ciento , p= 0,055). Conclusiones: El soporte en la unidad de cuidados intensivos pediátricos no fue un predictor de morbilidad funcional en la muestra(AU)

Introduction: Critically ill pediatric patients are susceptible to cerebral blood flow alterations that imply a deterioration of their functional health status. Objective: To identify predictors of a higher risk of poor functional outcome in critically ill pediatric patients with sepsis. Methods: A retrospective cohort study was conducted with children under 18 years of age with sepsis, who were admitted to the pediatric intensive care unit. Epidemiological, clinical, and functional health status variables were collected prior to admission, discharge, and after 6 months. Functional health status was assessed using the Pediatric Global State and Brain Status Category Scale. The change in performance status between admission and 6 months after discharge was assessed. A univariate analysis was performed to compare groups considering poor prognosis and change in functional status and their relationship with the variables. Results: A total of 46 patients were included. At 6 months after discharge, four (8.7 percent) had a poor functional prognosis and eight (17.4 percent) had functional worsening at admission. No associations were found between the predictor variables and morbidity, although some trends were observed in some variables, such as greater inotropic support (SIV > 20: 12.5 percent vs. 50 percent, p = 0.075), extracorporeal and renal replacement (25 percent vs. 2.6 , percent p = 0.074), and longer hospital stay (50 percent vs. 15.8 percent , p = 0.055). Conclusions: Support in the pediatric intensive care unit was not a predictor of functional morbidity in the sample(AU)