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Introduction and objectives: Digestive disorders are one of the most common comorbidities among children with cerebral palsy (CP). The aim of this study is to examine the nutritional status of patients with CP, the prevalence of dysphagia by degree of motor impairment, and the impact of digestive disorders on quality of life. Material and methods: We conducted a descriptive, cross-sectional, open-label study of out-patients with CP from a tertiary hospital in the Region of Madrid using a structured interview, classifying dysphagia using the Eating and Drinking Ability Classification System (EDACS). We gathered demographical and anthropometric data, and analysed the correlation between severity of dysphagia and functional status as measured with the Gross Motor Function Classification System (GMFCS). Results: Our sample included 44 patients (65.9% boys), with a mean (standard deviation) age of 9.34 (5) years and a mean BMI of 18.5 (4.9). Forty-three percent presented safety and efficiency limitations (EDACS level > II). Safety and efficiency limitations were associated with more extensive motor involvement (60% had tetraparesis), more varied clinical manifestations (87% had mixed forms) and poorer functional capacity (100% on GMFCS V). The impact on nutritional status increased with higher EDACS and GMFCS scores. Conclusions: This is the first study into the usefulness of the EDACS scale in a representative sample of Spanish children and adolescents with CP. Our findings underscore the importance of screening for dysphagia in these patients, regardless of the level of motor impairment, and the need for early treatment to prevent the potential consequences: malnutrition (impaired growth, micronutrient deficiencies, osteopaenia, etc.), microaspiration, or recurrent infections that may worsen patients’ neurological status. Resumen: Introducción y objetivos: La enfermedad digestiva es una de las comorbilidades más frecuentes en niños con parálisis cerebral infantil (PCI). Nuestro objetivo es analizar el estado nutricional de los pacientes PCI, la prevalencia de disfagia según afectación motriz (GMFCS) y su repercusión en la calidad de vida. Material y métodos: Estudio descriptivo transversal y abierto en pacientes con PCI seguidos en un Hospital Terciario de la Comunidad de Madrid mediante entrevista estructurada y clasificación de disfagia según la escala Eating and Drinking Ability Classification System (EDACS). Recogimos datos demográficos y antropométricos y relacionamos el nivel de disfagia con el nivel funcional según el Gross Motor Function Classification System (GMFCS). Resultados: La muestra incluyó 44 pacientes (65,9% varones), con una edad media de 9,34 ± 5 años y un IMC de 18,5 ± 4,9. El 43% tenía limitaciones en seguridad y/o eficiencia (EDACS > II). El porcentaje de pacientes afectados fue mayor cuanto más extensa desde el punto de vista topográfico (tetraparesia 60%), más variada semiología clínica (87% en formas mixtas) y peor nivel funcional (100% en GMFCS V). La repercusión nutricional fue mayor cuanto mayor nivel EDACS y GMFCS. Conclusiones: Presentamos el primer estudio sobre la utilidad de la escala EDACS en una muestra representativa de niños y adolescentes españoles con PCI. Los resultados deben hacernos reflexionar sobre la importancia del screening de disfagia en estos pacientes, independientemente del grado de afectación motriz y la necesidad de una intervención precoz para evitar sus principales consecuencias: desnutrición (hipocrecimiento, déficit de micronutrientes, osteopenia, etc.), microaspiraciones o infecciones de repetición que empeoran el estado neurológico.

Resumen: Introducción: El metilfenidato (MTF) es un psicoestimulante que aumenta frecuencia cardiaca (FC) y presión arterial (PA), lo cual a largo plazo podría modificar la geometría del ventrículo izquierdo (VI) y alterar sus propiedades funcionales, principalmente la diastólica. Material y métodos: Estudio prospectivo, longitudinal y comparativo tipo caso-caso en niños y adolescentes sanos diagnosticados de trastorno por déficit de atención e hiperactividad (TDAH) tratados con MTF durante 3 años. Se valoró pre y postratamiento PAS/PAD, geometría ventricular, función sistólica y diastólica. Resultados: Incluimos a 112 pacientes, completando 73. El 75,3% varones, entre 4-15 años (9 ± 2,6), con índice de masa corporal de 18,27 ± 3,75 y una dosis media de MTF de 0,9 ± 0,17 mg/kg/día. Objetivamos aumento de PAS/PAD de 3,7 ± 9 mmHg (p = 0,004) y 2 ± 11,5 mmHg, respectivamente. No tuvimos ningún evento cardiovascular grave, cambios estructurales ni variación en los parámetros de función sistólica estudiados. Sin embargo, encontramos un aumento discreto, pero progresivo y significativo del tiempo de relajación isovolumétrica del VI (p = 0,046) y del tiempo de desaceleración (p = 0,016) indicativos de alteración en la relajación. No observamos variación en los parámetros relacionados con la distensibilidad ni con las presiones diastólicas tempranas y ningún paciente cumplió criterios de disfunción diastólica. Conclusiones: El incremento de PAS/PAD y las alteraciones de la relajación del VI objetivadas podrían ser un indicador precoz de una posible disfunción diastólica y riesgo cardiovascular a largo plazo. Abstract: Introduction: Although methylphenidate (MPH) used for treatment of Attention deficit hyperactivity disorder (ADHD) are considered safe in healthy children and adolescents in the short and medium term, there is a widespread concern about long-term cardiovascular safety. Material and methods: Interventional, prospective, longitudinal and comparative study with a crossover design to evaluate the cardiovascular impact of the treatment with MPH in healthy children and adolescents diagnosed with ADHD. A protocol for the cardiovascular evaluation was established at a basal point, after the first and the second year of the beginning with treatment based on the monitoring of Blood pressure (BP) and echocardiographic follow-up of the systolic and diastolic functions, and structural cardiac properties. Results: 73 patients completed the study, with an average age of 9 + /- 2.6 years, 75.3% were male and the majority were thin (64.4%). We found an increase in Systolic and Diastolic BP of 3.7 ± 9 mmHg (P).004) and 2 ± 11,5 mmHg respectively. There were no severe cardiovascular events. We didn’t find any echocardiographic alterations namely on the structural properties or parameters of systolic function. Regarding diastolic function, a significant increase in the isovolumic relaxation time (IVRT) (P=.046) and deceleration time (P=.016) was observed. However, no significant alterations in the parameters related to distensibility of the LV neither in the early diastolic pressure were found. Conclusion: Further studies are needed to evaluate the impact of psychostimulants as a modifiable long-term Cardiovascular Risk Factor.

Introduction: Although methylphenidate (MPH) used for treatment of attention deficit hyperactivity disorder (ADHD) are considered safe in healthy children and adolescents in the short and medium term, there is a widespread concern about long-term cardiovascular safety. Material and methods: Interventional, prospective, longitudinal and comparative study with a crossover design to evaluate the cardiovascular impact of the treatment with MPH in healthy children and adolescents diagnosed with ADHD. A protocol for the cardiovascular evaluation was established at a basal point, after the first and the second year of the beginning with treatment based on the monitoring of blood pressure (BP) and echocardiographic follow-up of the systolic and diastolic functions, and structural cardiac properties. Results: 73 patients completed the study, with an average age of 9 ± 2.6 years, 75.3% were male and the majority were thin (64.4%). We found an increase in Systolic and Diastolic BP of 3.7 ± 9 mmHg (P = 0.004) and 2 ± 11,5 mmHg respectively. There were no severe cardiovascular events. We didn’t find any echocardiographic alterations namely on the structural properties or parameters of systolic function. Regarding diastolic function, a significant increase in the isovo-lumic relaxation time (IVRT) (P = 0.046) and deceleration time (P = 0.016) was observed. However, no significant alterations in the parameters related to distensibility of the LV neither in the early diastolic pressure were found. Conclusion: Further studies are needed to evaluate the impact of psychostimulants as a modifiable long-term Cardiovascular Risk Factor. Resumen: Introducción: El metilfenidato (MTF) es un psicoestimulante que aumenta frecuencia cardiaca (FC) y presión arterial (PA), lo cual a largo plazo podría modificar la geometría del ventrículo izquierdo (VI) y alterar sus propiedades funcionales, principalmente la diastólica. Material y métodos: Estudio prospectivo, longitudinal y comparativo tipo caso-caso en niños y adolescentes sanos diagnosticados de trastorno por déficit de atención e hiperactividad (TDAH) tratados con MTF durante 3 años. Se valoró pre y postratamiento PAS/PAD, geometría ventricular, función sistólica y diastólica. Resultados: Incluimos a 112 pacientes, completando 73. El 75,3% varones, entre 4–15 años (9 ± 2,6), con índice de masa corporal de 18,27 ± 3,75 y una dosis media de MTF de 0,9 ± 0,17 mg/kg/día. Objetivamos aumento de PAS/PAD de 3,7 ± 9 mmHg (p = 0,004) y 2 ± 11,5 mmHg, respectivamente. No tuvimos ningún evento cardiovascular grave, cambios estructurales ni variación en los parámetros de función sistólica estudiados. Sin embargo,encontramos un aumento discreto, pero progresivo y significativo del tiempo de relajación isovolumétrica del VI (p = 0,046) y del tiempo de desaceleración (p = 0,016) indicativos dealteración en la relajación. No observamos variación en los parámetros relacionados con la distensibilidad ni con las presiones diastólicas tempranas y ningún paciente cumplió criterios de disfunción diastólica. Conclusiones: El incremento de PAS/PAD y las alteraciones de la relajación del VI objetivadas podrían ser un indicador precoz de una posible disfunción diastólica y riesgo cardiovascular a largo plazo.

Abstract Background Despite a notable decrease in acute rheumatic fever (ARF) incidence in the past few decades, there are still cases in our setting. Sydenham chorea (SC) may be the initial manifestation for this condition in childhood in a significant proportion of children. We report two cases of choreoathetosis in children as the first manifestation of ARF. Case presentation A previously healthy 8-year-old boy presented with right hemichorea with a predominance in the brachial region, orofacial dyskinesias and speech difficulties for the past 2 weeks. The only medical history of interest was a common catarrhal illness 3 weeks before and nonspecific bilateral tenosynovitis in both feet since a year prior. A brain computerized tomography was normal and the echocardiogram showed mild mitral and aortic regurgitation, meeting ARF criteria. He demonstrated clinical improvement with treatment based on prednisone and carbamazepine. The second patient was a 10-year-old girl with choreic movements of the right half of the body and repetitive right eye closure of 1 week duration. She had symptoms of fever and rash the previous week and pharyngitis that resolved without antibiotic 2 months before. Blood tests revealed elevated C reactive protein (12 mg/dl) and erythrocyte sedimentation rate (96 mm/h). Brain magnetic resonance was normal and echocardiogram showed left ventricle dilation and mild mitral regurgitation, leading to the diagnosis of ARF. Due to neurological involvement, she received corticosteroids and intravenous immunoglobulin treatment, with worsening of neurological symptoms that required valproic acid with remission of the hemichorea. In addition skin lessions compatible with erythema marginatum appeared on the upper limbs. Conclusions SC should be the main diagnostic consideration in cases of hemichorea with normal neuroimaging in children. The cases reported highlight the need to maintain a high index of suspicion even in settings where incidende of ARF is low and the need to perform cardiological investigations in all patients with suspected SC, due to the possibility of subclinical valve lesions. Good adherence to secondary prophylaxis is crucial to avoid chorea relapses and worsening valve disease.

In recent years, the incidence of community-acquired methicillin-resistant S. aureus skin infections (CA-MARSA) has increased in pediatric population without associated risk factors. Ozenoxacin 10mg/g is a topical quinolone that has shown high activity on strains of S. aureus, S. pyogenes and other Gram-positive bacteria sensitive and resistant to methicillin, other quinolones, mupirocin and fusidic acid. Ozenoxacin 10mg/g cream was applied twice a day for 5 days in pediatric patients with superficial skin infections other than non-bullous impetigo where oral antibiotics were not needed. Therapeutic success was achieved in 93.7% of the patients after 5 days of treatment, with a 98.2% decrease in the mean SIRS scale of symptoms. No adverse reaction was reported during treatment. Given the achieved effectiveness, safety, and adherence of the treatment, we believe that pediatricians should consider this topical antibiotic for the treatment of other superficial skin infections, without limiting its use to non-bullous impetigo.

Introduction: Obstetric brachial plexus palsy (OBPP) usually has a favourable prognosis. However, nearly one third of all severe cases have permanent sequelae causing a high level of disability. In this study, we explore the effectiveness of ultrasound-guided injection of botulinum toxin A (BoNT-A) and describe the procedure. Patients and methods: We designed a prospective, descriptive study including patients with moderate to severe OBPP who were treated between January 2010 and December 2014. We gathered demographic data, type of OBPP, and progression. Treatment effectiveness was assessed with the Active Movement Scale (AMS), the Mallet classification, and video recordings. Results: We gathered a total of 14 133 newborns, 15 of whom had OBPP (1.6 per 1000 live births). Forty percent of the cases had severe OBPP (0.4/1000), a dystocic delivery, and APGAR scores

Resumen: Introducción: La parálisis braquial obstétrica (PBO) suele tener un pronóstico favorable; sin embargo, casi un tercio de los casos graves presentan secuelas permanentes que generan gran discapacidad. Valoramos la eficacia del tratamiento con infiltraciones ecoguiadas de toxina botulínica A (TB-A) y describimos el procedimiento. Pacientes y métodos: Estudio prospectivo, descriptivo, de los casos de PBO moderada-grave tratados entre enero del 2010 y diciembre del 2014. Recogimos datos demográficos, tipo de PBO y evolución. Valoramos eficacia con la escala de movimiento activo (EMA), Mallet Classification System y videofilmación. Resultados: Valoramos a 14.133 recién nacidos vivos, con 15 casos de PBO (1,06 por cada 1.000). El 40% casos graves (0,4/1000), nacidos de parto distócico, con APGAR < 5 y peso medio de 4.038 g. Edad media de inicio de infiltraciones 11,5 meses. El pronator teres, subescapularis, teres major, latissimus dorsi y/o pectoralis major fueron los más frecuentemente infiltrados. Mejoría progresiva hasta 3 niveles en EMA y una media de 19,5 puntos sobre 25 en la escala de Mallet a los 2 años en todos los casos de PBO que completaron el seguimiento (83%). Todos mejoraron funcionalidad y posturas anormales. Evitamos la cirugía en 3 pacientes y se retrasó en uno. Los efectos adversos del tratamiento fueron leves y autolimitados. Conclusiones: Por su seguridad y eficacia, parece razonable la utilización «off label» de TB-A como tratamiento adyuvante a las terapias físicas y/o tratamiento quirúrgico en las PBO moderadas-graves. La ecografía podría aumentar la eficacia y disminuir efectos adversos. Abstract: Introduction: Obstetric brachial plexus palsy (OBPP) usually has a favourable prognosis. However, nearly one third of all severe cases have permanent sequelae causing a high level of disability. In this study, we explore the effectiveness of ultrasound-guided injection of botulinum toxin A (BoNT-A) and describe the procedure. Patients and methods: We designed a prospective, descriptive study including patients with moderate to severe OBPP who were treated between January 2010 and December 2014. We gathered demographic data, type of OBPP, and progression. Treatment effectiveness was assessed with the Active Movement Scale (AMS), the Mallet classification, and video recordings. Results: We gathered a total of 14 133 newborns, 15 of whom had OBPP (1.6 per 1000 live births). Forty percent of the cases had severe OBPP (0.4/1000), a dystocic delivery, and APGAR scores

Introduction: Attention deficit hyperactivity disorder (ADHD) is the most frequent neurodevelopmental disorder and must be considered a public health priority because of its functional repercussions in school, family, and social settings. Health empowerment is an innovative model of care for patients with chronic diseases based on self-management education. Our goal is to evaluate the effectiveness of empowerment using coaching within a multimodal treatment plan in paediatric patients with ADHD. Material and methods: Descriptive open prospective study. We included children between 6 and 12 years old belonging to patient association in a suburban area of the Region of Madrid. We evaluated the situation before and after 5 cost-free coaching sessions using the Conners Questionnaire, Dundee difficult times of day scale, and satisfaction scales. Results: We included 49 patients (73.5% males) with an average age of 8.5 years. The ADHD hyperactive-impulsive subtype was present in 63.3% and 77.6% had some type of comorbidity. All were treated with methylphenidate and their clinical course was poor. Clinical improvements were observed in 79.6% with a 34.6% mean reduction in symptoms (SD 11.1), and improvements remained stable at 6 months follow-up after coaching. We reached a satisfaction level of 7.8 out of 10 (SD 1.7), and 95.9% of the participants recommended this treatment to other families. Conclusions: Our results provide information on the potential benefits of coaching as complementary treatment for ADHD. Resumen: Introducción: El trastorno por déficit de atención e hiperactividad (TDAH) es el trastorno del neurodesarrollo más frecuente y debe ser considerado un problema de primer orden de salud pública por sus repercusiones funcionales a nivel escolar, familiar y social. Empoderar en salud es un modelo innovador en el cuidado de pacientes con enfermedades crónicas, basado en la educación de automanejo. Nuestro objetivo es valorar la eficacia de empoderar mediante coaching, dentro de un plan de tratamiento multimodal en pacientes pediátricos con TDAH. Material y métodos: estudio descriptivo, abierto y prospectivo. Incluimos a niños de entre 6 y 12 años pertenecientes a una asociación de pacientes de un área suburbana de la Comunidad de Madrid. Valoramos la situación previa y posterior a 5 sesiones gratuitas de coaching mediante el Cuestionario de conducta de Conners de dificultades a lo largo del día (D-DTODS) y escalas de satisfacción. Resultados: Incluimos a 49 pacientes, el 73,5% varones, con una edad media de 8,5 años. El 63,3% tenía TDAH subtipo hiperactivo/impulsivo y el 77,6% algún tipo de comorbilidad. Todos tratados con metilfenidato y mala evolución clínica. El 79,6% mejoró clínicamente, con una reducción media ± DT de los síntomas del 34,6 ± 11,1% y mantenida en el 79,6% tras 6 meses de seguimiento post coaching. Alcanzamos un nivel de satisfacción de 7,8 ± 1,7 sobre 10 y el 95,9% recomendó el tratamiento a otras familias. Conclusiones: Nuestros resultados aportan información sobre los posibles beneficios del coaching como tratamiento asociado en el TDAH. Keywords: Empowerment, Coaching, Attention deficit hyperactivity disorder, Hyperactivity, Attention deficit, Psychostimulants, Palabras clave: Empoderar, Coaching, Trastorno por déficit de atención e hiperactividad, Hiperactividad, Déficit de atención, Psicoestimulantes

Resumen: Introducción: El trastorno por déficit de atención e hiperactividad (TDAH) es el trastorno del neurodesarrollo más frecuente y debe ser considerado un problema de primer orden de salud pública por sus repercusiones funcionales a nivel escolar, familiar y social. Empoderar en salud es un modelo innovador en el cuidado de pacientes con enfermedades crónicas, basado en la educación de automanejo. Nuestro objetivo es valorar la eficacia de empoderar mediante coaching, dentro de un plan de tratamiento multimodal en pacientes pediátricos con TDAH. Material y métodos: estudio descriptivo, abierto y prospectivo. Incluimos a niños de entre 6 y 12 años pertenecientes a una asociación de pacientes de un área suburbana de la Comunidad de Madrid. Valoramos la situación previa y posterior a 5 sesiones gratuitas de coaching mediante el Cuestionario de conducta de Conners de dificultades a lo largo del día (D-DTODS) y escalas de satisfacción. Resultados: Incluimos a 49 pacientes, el 73,5% varones, con una edad media de 8,5 años. El 63,3% tenía TDAH subtipo hiperactivo/impulsivo y el 77,6% algún tipo de comorbilidad. Todos tratados con metilfenidato y mala evolución clínica. El 79,6% mejoró clínicamente, con una reducción media ± DT de los síntomas del 34,6 ± 11,1% y mantenida en el 79,6% tras 6 meses de seguimiento post coaching. Alcanzamos un nivel de satisfacción de 7,8 ± 1,7 sobre 10 y el 95,9% recomendó el tratamiento a otras familias. Conclusiones: Nuestros resultados aportan información sobre los posibles beneficios del coaching como tratamiento asociado en el TDAH. Abstract: Introduction: Attention deficit hyperactivity disorder (ADHD) is the most frequent neurodevelopmental disorder and must be considered a public health priority because of its functional repercussions in school, family, and social settings. Health empowerment is an innovative model of care for patients with chronic diseases based on self-management education. Our goal is to evaluate the effectiveness of empowerment using coaching within a multimodal treatment plan in paediatric patients with ADHD. Material and methods: Descriptive open prospective study. We included children between 6 and 12 years old belonging to patient association in a suburban area of the Region of Madrid. We evaluated the situation before and after 5 cost-free coaching sessions using the Conners Questionnaire, Dundee difficult times of day scale, and satisfaction scales. Results: We included 49 patients (73.5% males) with an average age of 8.5 years. The ADHD hyperactive-impulsive subtype was present in 63.3% and 77.6% had some type of comorbidity. All were treated with methylphenidate and their clinical course was poor. Clinical improvements were observed in 79.6% with a 34.6% mean reduction in symptoms (SD 11.1), and improvements remained stable at 6 months follow-up after coaching. We reached a satisfaction level of 7.8 out of 10 (SD 1.7), and 95.9% of the participants recommended this treatment to other families. Conclusions: Our results provide information on the potential benefits of coaching as complementary treatment for ADHD. Palabras clave: Empoderar, Coaching, Trastorno por déficit de atención e hiperactividad, Hiperactividad, Déficit de atención, Psicoestimulantes, Keywords: Empowerment, Coaching, Attention deficit hyperactivity disorder, Hyperactivity, Attention deficit, Psychostimulants

Alazami syndrome is a rare disorder with an autosomal recessive inheritance caused by pathogenic biallelic variants in the LARP7 gene. Clinically, it is mainly characterized by short stature, intellectual disability, and dysmorphic facial features. However, the phenotype is not yet well-defined because less than 50 cases have been described to date. Here, we report three new patients from two unrelated Spanish families who, in addition to the defined features of Alazami syndrome, also exhibit unique features that broaden the phenotypic spectrum of the syndrome. Moreover, we describe the novel frameshift variant c.690_699delins27 in the LARP7 gene, in which loss of function is a known mechanism of Alazami syndrome. [ABSTRACT FROM AUTHOR]

Exclusive breastfeeding is recommended for the first six months of life to promote adequate infant growth and development, and to reduce infant morbidity and mortality. However, whenever some mothers are not able to breastfeed their infants, infant formulas mimicking human milk are needed, and the safety and efficacy of each formula should be tested. Here, we report the results of a multicenter, randomized, blinded, controlled clinical trial that aimed to evaluate a novel starting formula on weight gain and body composition of infants up to 6 and 12 months, as well as safety and tolerability. For the intervention period, infants were divided into three groups: group 1 received formula 1 (Nutribén® Innova 1 (Alter Farmacia S.A., Madrid, Spain) or INN (n = 70)), with a lower amount of protein, a lower casein to whey protein ratio by increasing the content of α-lactalbumin, and a double amount of docosahexaenoic acid/arachidonic acid than the standard formula; it also contained a thermally inactivated postbiotic (Bifidobacterium animalis subsp. lactis, BPL1TM HT). Group 2 received the standard formula or formula 2 (Nutriben® Natal (Alter Farmacia S.A., Madrid, Spain) or STD (n = 70)) and the third group was exclusively breastfed for exploratory analysis and used as a reference (BFD group (n = 70)). During the study, visits were made at 21 days and 2, 4, 6, and 12 months of age. Weight gain was higher in both formula groups than in the BFD group at 6 and 12 months, whereas no differences were found between STD and INN groups either at 6 or at 12 months. Likewise, body mass index was higher in infants fed the two formulas compared with the BFD group. Regarding body composition, length, head circumference and tricipital/subscapular skinfolds were alike between groups. The INN formula was considered safe as weight gain and body composition were within the normal limits, according to WHO standards. The BFD group exhibited more liquid consistency in the stools compared to both formula groups. All groups showed similar digestive tolerance and infant behavior. However, a higher frequency of gastrointestinal symptoms was reported by the STD formula group (n = 291), followed by the INN formula (n = 282), and the BFD groups (n = 227). There were fewer respiratory, thoracic, and mediastinal disorders among BFD children. Additionally, infants receiving the INN formula experienced significantly fewer general disorders and disturbances than those receiving the STD formula. Indeed, atopic dermatitis, bronchitis, and bronchiolitis were significantly more prevalent among infants who were fed the STD formula compared to those fed the INN formula or breastfed. To evaluate whether there were significant differences between formula treatments, beyond growth parameters, it would seem necessary to examine more precise health biomarkers and to carry out long-term longitudinal studies. [ABSTRACT FROM AUTHOR]