The clinical features of the skin and mucosa as well as the dermatological pathologies of patients with Down syndrome are sometimes chronic and difficult to treat. Intense xerosis and perioral dermatitis result in a therapeutic challenge for the specialist. Multidisciplinary and proactive management involving the family and the patient who is able to understand and follow routines are fundamental to avoid common complications such as superinfection. New cosmetic formulations that include active agents capable of protecting and restoring barrier function are helpful in avoiding comorbidities and excessive drug use. The authors perform a review of the main pathologies and specific conditions of the skin as well as the measures for its correct management.

BackgroundMyelopathy is a condition that significantly impacts a person's mobility and independence. In people with intellectual disabilities, such as Down syndrome, the negative impact of myelopathy is magnified. Myelopathy in Down syndrome may be related to atlanto-axial instability or degenerative pathology. Our experience with these patients has led us to hypothesize that their myelopathy is commonly undiagnosed until very severe. In this study we seek to determine whether patients with Down syndrome present with more severe myelopathy than those without Down syndrome. MethodsWe performed a retrospective medical record review of patients with Down syndrome who were treated for myelopathy by the Tufts Neurosurgical Practice. Eight patients met the criteria and were graded for severity of myelopathy on the Nurick Scale. We compared the patients with cervical spondylotic myelopathy and Down syndrome to patients who were treated for cervical spondylotic myelopathy as reported in Furlan et al. and Fehlings et al. ResultsThe average Nurick grade for patients with Down syndrome was 4.2 (SD 0.84, n=5). The average Nurick grade as reported by Furlan et al. was 2.8 (SD 0.68, n=81) and by Fehlings et al. was 3.14 (SD 0.97, n=278). The independent samples t-test resulted in a P value<0.000 and 0.016 with Furlan et al. and Fehlings et al. respectively. ConclusionsThe patients with Down syndrome in our study presented to neurosurgery with more severe myelopathy than patients without Down syndrome. It is important for physicians caring for people with Down syndrome to be aware of the presentation of myelopathy and consider the condition in the differential diagnosis of a Down syndrome patient with functional decline.

La población con síndrome de Down (SD) ha experimentado un aumento en su esperanza de vida en las últimas décadas. Esto conlleva un incremento en el riesgo de desarrollar enfermedades propias de la trisomía 21 asociadas al envejecimiento. Es necesario un alto nivel de sospecha por parte del profesional, ya que las dificultades en la comunicación, su posible escasa expresividad clínica y su alto umbral del dolor dificultan muchas veces su diagnóstico. Resulta por ello fundamental que los profesionales de la salud conozcan las recomendaciones específicas para atender adecuadamente a la población adulta con SD. El objetivo del presente artículo es describir las comorbilidades más frecuentes en los adultos con SD, así como divulgar las recomendaciones de salud para esta población, comparando las principales guías publicadas y evaluando su adecuación a las características de la población adulta actual con SD.Over the years, the life expectancy for individuals with Down syndrome (DS) has increased significantly. This fact involves a higher risk for developing numerous medical conditions associated with the aging of adults with DS. A high level of awareness is required by the professional, due to the lack of clinical expressiveness and their higher pain threshold, often makes the diagnosis difficult. Health care professionals must be aware of the specific recommendations for the appropriate care of the adult population with DS. The aim of this article is to describe the most frequent comorbidities in adults with DS adults, to summarise the specific preventive recommendations after comparing the main guidelines published, and to evaluate them according to their specific needs.

Postural control is considered the basis for the development of motor skills in people with DS. Therefore, the analysis of postural control could guide the rehabilitation of these patients.To analyse the postural control in children, adolescents and adults with Down syndrome (DS).A case–control study. The sample was composed of twenty-two children aged 6–11 years old (10 DS, 12 TD), twenty-three adolescents between 12 and 18 years old (11 DS, 12 TD), and twenty-four young adults 19 and 25 years old (12 DS, 12 TD). Postural control was measured on a force platform in condition of open eyes (OE) and closed eyes (CE) where the centre of pressure (COP) variables were calculated. People with DS and typically developing (TD) were compared.No significant differences were observed in children. In adolescents and adults the COP variables were significantly higher in the groups with DS in OE and CE (P < 0.05). In people with DS there were no significant differences between children, adolescents and adults in any of the COP variables. In people with TD significant differences when comparing children, adolescents and adults (P < 0.05).Individuals with DS have a deficit of postural control and low development of this skill as the individual matures in age.El control postural se considera la base del desarrollo de habilidades motoras en personas con síndrome de Down (SD). Por ello el análisis del control postural podría orientar su rehabilitación.Analizar el control postural en niños, adolescentes y adultos con SD comparativamente con los que presentan un desarrollo típico (DT).Estudio de casos y controles. La muestra fue compuesta por 22 niños entre 6 a 11 años de edad (10 SD; 12 DT), 23 adolescentes entre 12 y 18 años de edad (11 SD; 12 DT), y 24 adultos jóvenes entre 19 y 25 años de edad (12 SD; 12 DT). El control postural fue medido sobre una plataforma de fuerza en situación de ojos abiertos (OA) y ojos cerrados (OC) calculándose las variables del centro de presión (COP).En niños, no hubo diferencias estadísticamente significativas. En adolescentes y adultos las variables del COP fueron significativamente mayores en los grupos con SD en OA y OC (p < 0,05). En personas con SD no hubo diferencias significativas entre niños, adolescentes y adultos en ninguna de las variables del COP. En personas con DT se observaron diferencias significativas al comparar rangos etarios (p < 0,05).Las personas con SD presentan un déficit del control postural y un bajo desarrollo de esta habilidad a medida que van madurando en edad.

IntroductionDown syndrome (DS) is the most frequent aneuploidy in the humans. Children with DS have a predisposition to obesity, and it is known that the phenotype of these individuals may lead to a bias in the use of the World Health Organization body mass index (WHO BMI). ObjectivesThis study proposes the assessment of body composition in individuals with DS using the dual X-ray absorptiometry (DXA) technique, the current gold standard for comparison of its values with those found in general population. MethodData was collected randomly from patients, such as their BMI and body composition with the DXA machine Lunar Prodigy Advance®, with their values compared to literature references and statistically analyzed with their WHO BMI z-score. Results45 individuals were analyzed, with a prevalence of 58% of girls, mean age of 11 years old and 35.5% were obese by WHO BMI z-score; 57.1% of the subgroup of eutrophic individuals with DS by WHO BMI had altered body composition values. ConclusionThe WHO BMI z-score in patients with DS has a correspondence with the body composition only in individuals classified as overweight or obese by BMI z-score. It was concluded that BMI is not an appropriate tool to infer the body composition in children with DS.

ObjectiveStudy of anthropometric values in the medical records of a representative group of paediatric patients with Down syndrome, from the Down syndrome Unit of the Paediatric Department of Valencia's Hospital Clínico Universitario, from 2000 to 2014. Patients and methodsDescriptive observational study in a group of 140 patients between 1 and 13 years. The group was configured based on the inclusion and exclusion criteria. We extracted data about birth from their first visit, and subsequently patient data at the time of each visit (643 measurements). Results103 patients with regular trisomy of Down syndrome were recorded and studied. There were 59 (57%) boys and 44 (43%) girls. The records were then analysed and percentiles were calculated. DiscussionThe median was compared to that of percentiles from the Catalan Down Syndrome Foundation. ConclusionsWe present an observational study with anthropometric measurements of a group of Down syndrome children from Valencia. Measurements were lower than those of the WHO for the general population, but similar to those recorded by the Catalan Down Syndrome Foundation. The need to continue using customised Down syndrome percentiles is reaffirmed, with periodic review of these tables.

Morgagni's hernia is a rare type of congenital diaphragmatic hernia that constitutes less than 5% of congenital diaphragmatic defects. It is moderately associated with congenital anomalies, while it is rarely associated with Down's syndrome or trisomy 21. On the other hand, the incidence of anorectal malformations in patients with Down's syndrome is relatively frequent, with an incidence of from 0.36% to 2.7%. We present the case of a newborn baby with Down's syndrome and anorectal malformation without fistula, colostomised, which evolved with episodes of intestinal subocclusion. In the study of a second episode of constipation, with colonography through the colostomy, a Morgagni hernia was found and afterwards surgically resolved. The objective is to point out the rarity of the association between Down's syndrome, Morgagni hernia and anorectal malformation.

IntroductionIn the general population, the current trend is to diagnose Autism Spectrum Disorders (ASD) at an early stage, which is crucial to improve the prognosis. In contrast, in the Down's syndrome (DS) population, ASD diagnosis is frequently delayed, having negative consequences on the overall development of the children who suffer the condition. ObjectiveTo identify “early warning signs” for the detection of ASD in DS in the first years of life (0 to 4 years). MethodsRetrospective cohort study: DS with an ASD diagnosis (DS-ASD) and healthy-DS (DS-noASD) matched by sex and age. Early warning signs were identified and selected from different questionnaires on ASD in the general population: 1. Lack of social smile; 2. lack of shared attention; 3. Lack of seeking comfort/protection; 4. Lack of complaint; 5. Little interest in others; 6. No pointing; 7. Absence of -imitation; 8. Lack of babbling/vocalisation; 9. Inappropriate facial expression; 10. Presence of rituals as repetitive actions or repetitive sentences; 11. Mannerisms hands/fingers; 12. Stereotypies; 13. Lack of sensory interest; and 14. Absence of gaze integration.Six investigators, who did not participate in the identification of the “early warning signals”, selected those that would guide a diagnosis of ASD (qualitative analysis).Parents were asked for videos of people with DS in ‘activity’ between 0 and 4 years. The same investigators, blinded to the diagnosis of ASD and after watching the videos, scored the “early warning signals” in three categories: presence/absence/non-evaluable (quantitative analysis). ResultsDuring 2013, 12 videos of 12 people with SD were obtained: 6 from the SD-ASD group and 6 from the SD-noASD group. The qualitative analysis identified as early warning signals related to the diagnosis of ASD: “Absence of gaze integration”, “absence of imitation”, “presence of rituals as repetitive actions or repetitive sentences” and “stereotypies”, and the quantitative analysis: “lack of shared attention” and “little interest in others”. ConclusionCertain “warning signs” may lead to a diagnosis of ASD in the first years of life in children with DS.

IntroductionPostural control is considered the basis for the development of motor skills in people with DS. Therefore, the analysis of postural control could guide the rehabilitation of these patients. ObjectiveTo analyse the postural control in children, adolescents and adults with Down syndrome (DS). Material and methodsA case–control study. The sample was composed of twenty-two children aged 6–11 years old (10 DS, 12 TD), twenty-three adolescents between 12 and 18 years old (11 DS, 12 TD), and twenty-four young adults 19 and 25 years old (12 DS, 12 TD). Postural control was measured on a force platform in condition of open eyes (OE) and closed eyes (CE) where the centre of pressure (COP) variables were calculated. People with DS and typically developing (TD) were compared. ResultsNo significant differences were observed in children. In adolescents and adults the COP variables were significantly higher in the groups with DS in OE and CE (P<0.05). In people with DS there were no significant differences between children, adolescents and adults in any of the COP variables. In people with TD significant differences when comparing children, adolescents and adults (P<0.05). ConclusionsIndividuals with DS have a deficit of postural control and low development of this skill as the individual matures in age.

Study of anthropometric values in the medical records of a representative group of paediatric patients with Down syndrome, from the Down syndrome Unit of the Paediatric Department of Valencia's Hospital Clínico Universitario, from 2000 to 2014.Descriptive observational study in a group of 140 patients between 1 and 13 years. The group was configured based on the inclusion and exclusion criteria. We extracted data about birth from their first visit, and subsequently patient data at the time of each visit (643 measurements).103 patients with regular trisomy of Down syndrome were recorded and studied. There were 59 (57%) boys and 44 (43%) girls. The records were then analysed and percentiles were calculated.The median was compared to that of percentiles from the Catalan Down Syndrome Foundation.We present an observational study with anthropometric measurements of a group of Down syndrome children from Valencia. Measurements were lower than those of the WHO for the general population, but similar to those recorded by the Catalan Down Syndrome Foundation. The need to continue using customised Down syndrome percentiles is reaffirmed, with periodic review of these tables.Estudio de los valores antropométricos registrados en las historias clínicas de un grupo representativo de pacientes en edad pediátrica en la Unidad de Síndrome de Down del Servicio de Pediatría del Hospital Clínico Universitario de Valencia, entre los años 2000 y 2014, inclusive.Estudio observacional descriptivo en una muestra de 140 pacientes de entre 1 y 13 años. La muestra se configuró a partir de los criterios de inclusión y de exclusión. Se extrajeron del informe de la primera visita, los datos relevantes referentes al nacimiento y, de las visitas sucesivas (643 mediciones), el estado del paciente en dicho momento.Se estudiaron 103 pacientes con síndrome de Down portadores de trisomía regular, que superaron los criterios de inclusión y exclusión, cuya distribución por sexos corresponde a 59 (57%) niños y 44 (43%) niñas. Posteriormente, se analizaron, obteniendo percentiles.Se comparó la mediana con aquella de los percentiles propuestos por la Fundación Catalana Síndrome de Down.Presentamos un estudio observacional con las mediciones antropométricas de una muestra de pacientes menores con síndrome de Down de la población valenciana.Las medidas han sido inferiores a las de la población general, pero similares a las de los pacientes del estudio de la Fundación Catalana Síndrome de Down. Se reafirma la necesidad de continuar empleando unas tablas percentiladas propias para la población con síndrome de Down, siendo necesaria una revisión periódica de dichas tablas.