Adapting a quality of life scale for children and young people with Down syndrome in Chile.

In Chile, there are no validated instruments for the evaluation of quality of life (QoL) of people with Down syndrome (DS). To analyze construct validity and reliability of the KidsLife-Down scale in Chile to measure QoL in people with DS aged from 4 to 21 years. Families of boys, girls, and young people with DS between 4 and 21 years were invited to participate. The scale was answered by relatives or caregivers. To assess the internal consistency, reliability tests were performed using Cronbach's alpha coefficient. A confirmatory factor analysis was performed. The scale was answered by 531 relatives or caregivers. Cronbach's coefficient was greater than 0.7 in all the items. The confirmatory factor analysis of the scale allowed its validation for clinical use in the Chilean population. "Kids Life Down-Chile" scale has adequate psychometric properties to be used in clinical practice and to help us improve QoL with better support strategies.

¿Qué saben de pubertad, relaciones de pareja y reproducción, un grupo de jóvenes chilenos con Síndrome de Down? / What do a Group of Young Chilean with Down Syndrome Know about Puberty, Relationshipsand Reproduction?

Introducción: vivir la sexualidad y afectividad de forma plena es fundamental en todo ser humano; sin embargo, las personas con síndrome de Down (SD) tienen escasas instancias de educación sexual y pocos espacios de socialización para experimentarla. Objetivos: describir el conocimiento que tienen jóvenes con SD sobre temáticas básicas de pubertad, relaciones de pareja y reproducción. Metodología: estudio cualitativo, descriptivo, exploratorio, en dos grupos focales de jóvenes con SD, entre 13 y 18 años, separados por género. La información fue grabada, transcrita y codificada según categorías emergentes. Resultados: sobre la palabra “sexualidad”, las mujeresdeclararon no haberla escuchado y los hombres hicieron referencia a “sexo”, “relaciones de pareja”, “amor” y “familia”. Para “cambios puberales”, ambos grupos señalaron los cambios más visibles, pero nada respecto a reproducción. Solo un participante entendía el concepto de “relación sexual”. Las mujeres consideraron el “inicio de la vida humana” como un evento de generación espontánea y los hombres plantearon una teoría fantasiosa. La familia fue la principal fuente de información. Discusión: los participantes mostraron un manejo deficiente e infantilizado de la información. Son urgentes la investigación y el desarrollo de programas de Educación Sexual y así dignificar la sexualidad y afectividad de personas con SD, desde un enfoque de derechos. (AU)

Introduction: living sexuality and affectivity fully is fundamental in every human being, however, people with Down syndrome (DS) have few instances of sex-ual education and few spaces for socialization to experience it. Objectives: describe the knowledge that young people with DS have on basic issues of puberty, relationships and reproduction. Methodology: qualitative, descriptive, exploratory study in two focus groups of young people with DS, between 13 and 18 years old, separated by gender. The information was recorded, coded according to categories. Results: regarding the word “sexuality”, the women declared that they had not heard it and the men referred to “sex”, “couple relationships”, “love” and “family”. For “pubertal changes”, both groups reported the most visible changes, but nothing regarding reproduction. Only one participant understood the concept of “sexual relationship”. Women considered the “beginning of human life” as a spontaneous generation event and the men came up with a fanciful theory. The family was the main source of information. Discussion: par-ticipants showed deficient and infantilized handling of information. Research and devel-opment of Sex Education programs are urgent to dignify the sexuality and affectivity of people with DS, from a rights’ perspective. (AU)

Late start of early intervention in children with Down syndrome. / Inicio tardío de programas de atención temprana en niños y niñas con síndrome de Down.

INTRODUCTION: Early intervention (EI) is key in the lives of children with Down syndrome (CHwDS). Starting it befo re 60 days of life (DOL) has better results in future development. OBJECTIVE: To assess the factors that delay the beginning of EI in CHwDS. SUBJECTS AND METHOD: Parents of CHwDS who attended EI pro grams during their first year of life participated. Social, family, and health factors that could influence the time of initiation of EI were evaluated and compared according to the start of EI (before vs after 60DOL). For the analysis of categorical variables, Fisher's exact test was used and for the association between the numerical ones, the Student T-test for independent samples. RESULTS: 125 questionnaires were analyzed. 51.2% started EI after 6ODOL, and of them, 25% started after 6 months of age. Late initiation of EI was associated with hospitalization before 3 months of age (OR = 2.5), long hospital stays (OR = 2.4), lower educational level of the father (OR = 4.7) and of the mother (OR = 3.4), birth in the public health system (OR = 11.8), and access to free EI centers (OR = 2.4). The high socioe conomic level was the only protective factor (OR = 0.4) for early initiation. CONCLUSIONS: More than 50% of CHwDS begin EI programs late. This was associated with early hospitalization, prolonged hospital stays, and socioeconomic status. It is urgent to allocate resources and generate public policies that allow guaranteed access to EI programs.

[Development of communicative abilities in infants with Down syndrome after systematized training in gestural communication]. / Desarrollo de habilidades comunicativas en lactantes con síndrome de Down posterior a capacitaciones sistematizadas en comunicación gestual.

INTRODUCTION: Gestural communication, understood as the use of non-verbal gestures before the word appears, is a strength in children with Down syndrome (DS). OBJECTIVE: To describe com munication development behaviors in children with DS, before and after gestural communication training, based on the "Signs, words and games" workshops of the Baby Signs® program. SUBJECTS AND METHOD: Prospective study of children with DS between 18 and 22 months of cognitive age, who were trained in gestural communication according to the "Baby Signs®" methodology, evaluating communication skills through the MacArthur inventory adapted for children with DS (Communica tive Development Inventories, CDI-DS), analyzing the scores before and three months after the in tervention. The evaluated items were: Early comprehension, First sentences comprehension, Starting to speak, Vocabulary list, and Decontextualized language use (part 1) and total, early and late gestures (part 2). RESULTS: 21 children completed the workshops, with an average chronological age of 27.5 months and 19.8 months of cognitive age. 29% of the participants increased their scores in sentence comprehension, 62% in vocabulary production with gestures, 33% improved in vocabulary compre hension, 57% lost early gestures, and 43% increased late gestures production. CONCLUSIONS: Gestural communication training favors the communication skills development in a group of children with DS, mainly in the initial understanding and gesture production. There is important inter-individual variability, therefore is necessary to consider child to child recommendations.

Desarrollo de habilidades comunicativas en lactantes con síndrome de Down posterior a capacitaciones sistematizadas en comunicación gestual / Development of communicative abilities in infants with Down syndrome after systematized training in gestural communication

INTRODUCCIÓN: La comunicación gestual, entendida como el uso de gestos no verbales antes de la aparición de la palabra, es una fortaleza en niños con síndrome de Down (SD). OBJETIVO: Describir conductas de desarrollo comunicativo en niños con SD, previo y posterior a capacitaciones en comunicación gestual, basadas en talleres de "Señas, palabras y juegos" del programa Baby Signs®. SUJETOS Y MÉTODO: Estudio prospectivo de niños con SD entre 18 y 22 meses de edad cognitiva, a los cuales se les realizó capacitaciones en comunicación gestual según la metodología Baby Signs, evaluando habilidades comunicativas a través del inventario McArthur adaptado para niños con SD (Inventario de desarrollo comunicativo, CDI-SD), analizando los puntajes antes y 3 meses después de la intervención. Los ítems evaluados corresponden a: Comprensión temprana, Comprensión de las primeras frases, Comenzando a hablar, Lista de vocabulario y Uso descontextualizado del lenguaje (parte 1) y a Gestos totales, tempranos y tardíos (parte 2). RESULTADOS: 21 niños completaron los talleres, con una media de edad cronológica de 27,5 meses y 19,8 meses de edad cognitiva. El 29% de los participantes aumentaron sus puntajes en comprensión de frases, el 62% en producción de vocabulario con gestos, el 33% mejora la comprensión de vocabulario, el 57% perdió los gestos tempranos y el 43% aumentó la producción de gestos tardíos. CONCLUSIONES: Las capacitaciones en comunicación gestual favorecen el desarrollo de habilidades comunicativas en un grupo de niños con SD, principalmente en la com prensión inicial y producción de gestos. Existe importante variabilidad interindividual, por lo que es necesario considerar las recomendaciones niño a niño.

INTRODUCTION: Gestural communication, understood as the use of non-verbal gestures before the word appears, is a strength in children with Down syndrome (DS). OBJECTIVE: To describe com munication development behaviors in children with DS, before and after gestural communication training, based on the "Signs, words and games" workshops of the Baby Signs® program. SUBJECTS AND METHOD: Prospective study of children with DS between 18 and 22 months of cognitive age, who were trained in gestural communication according to the "Baby Signs®" methodology, evaluating communication skills through the MacArthur inventory adapted for children with DS (Communica tive Development Inventories, CDI-DS), analyzing the scores before and three months after the in tervention. The evaluated items were: Early comprehension, First sentences comprehension, Starting to speak, Vocabulary list, and Decontextualized language use (part 1) and total, early and late gestures (part 2). RESULTS: 21 children completed the workshops, with an average chronological age of 27.5 months and 19.8 months of cognitive age. 29% of the participants increased their scores in sentence comprehension, 62% in vocabulary production with gestures, 33% improved in vocabulary compre hension, 57% lost early gestures, and 43% increased late gestures production. CONCLUSIONS: Gestural communication training favors the communication skills development in a group of children with DS, mainly in the initial understanding and gesture production. There is important inter-individual variability, therefore is necessary to consider child to child recommendations.

Good health indicators in children with Down syndrome: High frequency of exclusive breastfeeding at 6 months. / Buenos indicadores de salud en niños con síndrome de Down: Alta frecuencia de lactancia materna exclusiva a los 6 meses.

AIM: To describe the frequency of exclusive breastfeeding at 6 months in binomial of mother and in fants with Down Syndrome (DS) attending at the Health net UC CHRISTUS (PSSPSD-UC), and iden tify the main factors associated with exclusive breastfeeding cessation. PATIENTS AND METHODS: Prevalence study of exclusively breastfeeding at 6 months of age that includes mother-child binomial of Chilean infants with (DS) aged 6-24 months, who attend the PSSPSD-UC. An on-line questionnaire was conducted, which included demographic data, child's background and experience in breastfee ding. RESULTS: The total sample consisted of 73 binomials. Forty-six percent (34/73) of the mothers exclusively breastfed until 6 months or longer, 67.1% (49/73) of the infants had a disease or malfor mation that interfere with breast feeding. Among the 39 mothers who did not exclusively breastfeed until 6 months, 25 (64.1%) referred child factors. Hospitalization during the first 6 months was the most significant factor affecting the cessation of breastfeeding (OR = 6,13). CONCLUSIONS: First study in Chile that describes the frequency of exclusive breastfeeding at 6 months of age in children with DS, which shows a large rate of exclusively breastfeeding in the studied sample. The adequate support and education in breastfeeding could allow to achieve a better rate of exclusive breastfeeding in this vulnerable group.

Buenos indicadores de salud en niños con síndrome de Down: Alta frecuencia de lactancia materna exclusiva a los 6 meses / Good health indicators in children with Down syndrome: High frequency of exclusive breastfeeding at 6 months

Resumen: Objetivos: Describir la frecuencia de lactancia materna exclusiva (LME) hasta los 6 meses en bino mio madre-hijo/a de niños con síndrome de Down (SD) en control en Programa de Seguimiento de Salud de Personas con SD de la Red de Salud UC CHRISTUS (PSSPSD-UC), e identificar los factores que influyen en el abandono de la LME. Pacientes y Método: Estudio de prevalencia de LME hasta los 6 meses, en el cual se estudió al binomio madre-hijo/a de niños chilenos con SD, entre 6 meses y 2 años, que se controlan en el PSSPSD-UC. Se utilizó un cuestionario on-line que incluyó datos de mográficos, antecedentes del hijo/a y experiencia en LM. Resultados: El total de la muestra obtenida fue de 73 binomios. El 46,6% (34/73) de las madres dieron LME hasta los 6 meses o más. El 67,1% (49/73) de los hijos presentó alguna patología o malformación asociada que influía en la lactancia. De las 39 madres que no dieron LME hasta los 6 meses, 25 (64,1%) fue por motivos del hijo/a. La hospitalización durante los primeros 6 meses de vida fue el factor más significativo en el cese de LME antes de los 6 meses (OR = 6,13). Conclusión Primer estudio en Chile que describe la frecuencia de LME a los 6 meses en niños con SD, en el que se obtuvo una alta frecuencia de LME en la población estudiada. El apoyo y educación adecuada sobre lactancia permitiría lograr una mayor tasa de LME en este grupo más vulnerable.

Abstract: Aim: To describe the frequency of exclusive breastfeeding at 6 months in binomial of mother and in fants with Down Syndrome (DS) attending at the Health net UC CHRISTUS (PSSPSD-UC), and iden tify the main factors associated with exclusive breastfeeding cessation. Patients and Methods: Prevalence study of exclusively breastfeeding at 6 months of age that includes mother-child binomial of Chilean infants with (DS) aged 6-24 months, who attend the PSSPSD-UC. An on-line questionnaire was conducted, which included demographic data, child's background and experience in breastfee ding. Results: The total sample consisted of 73 binomials. Forty-six percent (34/73) of the mothers exclusively breastfed until 6 months or longer, 67.1% (49/73) of the infants had a disease or malfor mation that interfere with breast feeding. Among the 39 mothers who did not exclusively breastfeed until 6 months, 25 (64.1%) referred child factors. Hospitalization during the first 6 months was the most significant factor affecting the cessation of breastfeeding (OR = 6,13). Conclusions: First study in Chile that describes the frequency of exclusive breastfeeding at 6 months of age in children with DS, which shows a large rate of exclusively breastfeeding in the studied sample. The adequate support and education in breastfeeding could allow to achieve a better rate of exclusive breastfeeding in this vulnerable group.

[High frequency of dyslipidemia in children and adolescents with Down Syndrome]. / Alta frecuencia de dislipidemias en niños y adolescentes con Síndrome de Down.

Down Syndrome (DS) shows an increased risk of chronic diseases, associated to higher morbidity and mortality for cardiovascular disease. Some studies have shown a worse lipid profile in children with DS, however, until now there is no recommendation for screening for dyslipidemia in these subjects. OBJECTIVE: To describe the frequency of dyslipidemia in a population of Chilean children and adolescents with DS. PATIENTS AND METHOD: Retrospective study, including patients with DS, aged 2 to 18 years, who participated in a special health care program for people with DS in Health Net UC CHRISTUS, between 2007 and 2015. Patients who had a lipid profile between their routine laboratory tests were included. Clinical characteristics, relevant comorbidities, malformations, medications, nutritional status and pubertal development were obtained from medical records. Diagnosis of dyslipidemia was considered according to the criteria of the NHLBI 2011. RESULTS: The medical records of 218 children with DS were revised, 58,3% had some type of dyslipidemia. The most frequent single dyslipidemias were low HDL Chol (15,1%) and hypertriglyceridemia (12,8%). Atherogenic dyslipidemia (low HDL plus hypertriglyceridemia) was the most frequent combined dyslipidemia (13,3%). The occurrence of atherogenic dyslipidemia was not associated with overnutrition and obesity. CONCLUSIONS: A high frequency of dyslipidemia was found in Chilean children and adolescents with DS. Our results make us suggest that lipid profile should be performed early in all patients with DS, independent of the presence of risk factors for dyslipidemia.

Alta frecuencia de dislipidemias en niños y adolescentes con Síndrome de Down / High frequency of dyslipidemia in children and adolescents with Down Syndrome

El síndrome de Down (SD) presenta mayor riesgo de desarrollar enfermedades crónicas asociadas a mayor morbimortalidad por enfermedad cardiovascular. Algunos estudios han mostrado un peor perfil lipídico en niños con SD, sin embargo, hasta el momento no existen recomendaciones de tamizaje para dislipidemia en estos pacientes. Objetivo: Describir la frecuencia de dislipidemia en una población chilena de niños y adolescentes con SD. Pacientes y Método: Estudio retrospectivo, que incluyó pacientes con SD entre 2 y 18 años, participantes de un programa de salud para personas con SD en la Red de Salud UC CHRISTUS, entre los años 2007 y 2015. Se incluyeron pacientes que tuvieran perfil lipídico tomado entre sus exámenes de rutina. Se registraron características clínicas, comorbilidades relevantes, malformaciones, medicamentos, estado nutricional y estado puberal. El diagnóstico de dislipidemias se realizó de acuerdo a los criterios de la NHLBI 2011. Resultados: Se revisaron las fichas clínicas de 218 niños con SD, 58,3% tenía algún tipo de dislipidemia. Las más frecuentes fueron colesterol HDL bajo (15,1%) e hipertrigliceridemia (12,8%). La dislipidemia aterogénica (C-HDL bajo más hipertrigliceridemia) fue la dislipidemia combinada más frecuente (13,3%), la cual no se asoció a sobrepeso u obesidad. Conclusiones: Se encontró una alta frecuencia de dislipidemia en niños y adolescentes chilenos con SD. Nuestros resultados nos hacen sugerir la realización de un perfil lipídico de forma temprana a todos los pacientes con SD, independiente de la presencia de factores de riesgo de dislipidemia.

Down Syndrome (DS) shows an increased risk of chronic diseases, associated to higher morbidity and mortality for cardiovascular disease. Some studies have shown a worse lipid profile in children with DS, however, until now there is no recommendation for screening for dyslipidemia in these subjects. Objective: To describe the frequency of dyslipidemia in a population of Chilean children and adolescents with DS. Patients and Method: Retrospective study, including patients with DS, aged 2 to 18 years, who participated in a special health care program for people with DS in Health Net UC CHRISTUS, between 2007 and 2015. Patients who had a lipid profile between their routine laboratory tests were included. Clinical characteristics, relevant comorbidities, malformations, medications, nutritional status and pubertal development were obtained from medical records. Diagnosis of dyslipidemia was considered according to the criteria of the NHLBI 2011. Results: The medical records of 218 children with DS were revised, 58,3% had some type of dyslipidemia. The most frequent single dyslipidemias were low HDL Chol (15,1%) and hypertriglyceridemia (12,8%). Atherogenic dyslipidemia (low HDL plus hypertriglyceridemia) was the most frequent combined dyslipidemia (13,3%). The occurrence of atherogenic dyslipidemia was not associated with overnutrition and obesity. Conclusions: A high frequency of dyslipidemia was found in Chilean children and adolescents with DS. Our results make us suggest that lipid profile should be performed early in all patients with DS, independent of the presence of risk factors for dyslipidemia.

[Morbidity profile among adolescents with Down syndrome]. / Perfil de morbilidad en adolescentes chilenos con síndrome de Down.

BACKGROUND: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). AIM: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. MATERIAL AND METHODS: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. RESULTS: The mean age at the last consultation was 13 ± 3 years. Ninety-eight percent of patients had a chronic condition: 37.1% where overweight or obese, 58.2% had a congenital heart disease, 11.9% where being evaluated or had the diagnosis of autism and 44.8% had hypothyroidism. Pubertal development was consistent with chronologic age in 93.7% of patients. In three patients puberty had been suppressed. In women, average age of menarche was 12.2 ± 1.1 years. There were no deaths reported. CONCLUSIONS: There was a high rate of comorbidities in this group of adolescents with DS, most of them with frequencies comparable to those reported in literature.

Perfil de morbilidad en adolescentes chilenos con síndrome de Down / Morbidity profile among adolescents with Down syndrome

Background: There is a paucity of information about morbidity and mortality of adolescents with Down syndrome (DS). Aim: To describe morbidity and mortality of a cohort of Chilean adolescents with DS. Material and Methods: Review of electronic clinical records of 67 ambulatory patients with DS aged 10 to 20 years (37 women), seen between the years 2007 and 2014 in outpatient clinics of a University hospital. Results: The mean age at the last consultation was 13 ± 3 years. Ninety-eight percent of patients had a chronic condition: 37.1% where overweight or obese, 58.2% had a congenital heart disease, 11.9% where being evaluated or had the diagnosis of autism and 44.8% had hypothyroidism. Pubertal development was consistent with chronologic age in 93.7% of patients. In three patients puberty had been suppressed. In women, average age of menarche was 12.2 ± 1.1 years. There were no deaths reported. Conclusions: There was a high rate of comorbidities in this group of adolescents with DS, most of them with frequencies comparable to those reported in literature.

El proceso de transición de servicios pediátricos a adultos: visión de adolescentes hospitalizados portadores de enfermedades crónicas / The transition process from paediatric to adult services: a perspective from hospitalised adolescent sufferers of chronic diseases

INTRODUCCIÓN Las enfermedades crónicas durante la adolescencia son un gran desafío para el paciente, su familia y los proveedores de salud. La transición desde los servicios de salud pediátricos a adultos involucra el proceso de traspaso programado y planificado, de adolescentes portadores de enfermedades crónicas, para mantener una buena calidad de vida y desarrollo biopsicosocial. No existe, actualmente, un modelo único de transición. El objetivo del estudio es comprender el proceso de transición desde la perspectiva de adolescentes hospitalizados, para colaborar al diseño de un modelo acorde a las necesidades estudiadas. PACIENTES Y MÉTODO Incluye entrevistas semiestructuradas a 13 adolescentes portadores de enfermedades crónicas, hospitalizados en 2 centros asistenciales de Santiago de Chile, en un estudio analítico-relacional, sostenido por una metodología de carácter cualitativo. RESULTADOS En el análisis destacan 5 temas principales: experiencia de la vivencia de la enfermedad, importancia de la relación médico-paciente, concepto de autonomía limitado a lo farmacológico, ausencia de un proceso de transición propiamente dicho y la identificación de barreras y necesidades para una transición adecuada. CONCLUSIONES Este estudio es pionero en Chile en explorar el fenómeno de la transición en adolescentes con enfermedades crónicas. Enfatiza la necesidad de reforzar el concepto de autocuidado y autonomía desde etapas tempranas del cuidado y la importancia de la planificación temprana de un proceso de transición saludable, de acuerdo a las necesidades detectadas por los propios adolescentes.

INTRODUCTION Chronic illnesses during adolescence are a big challenge for the patient, his or her family, and health care providers. The transition from paediatric health services to adult health services involves a programmed and planned transfer process of adolescent sufferers of chronic illnesses, in order to maintain a high quality of life and bio-psycho-social development. There is currently no transition model. The objective of the study is to understand the transition process from the perspective of hospitalised adolescents to collaborate towards the design of a model that meets the needs studied. PATIENTS AND METHOD Semi-structured interviews with 13 adolescent sufferers of chronic illnesses, hospitalised in two healthcare centres in Santiago, Chile, in one analytical-relational study, supported by qualitative methodology. RESULTS In the analysis, 5 major themes stand out: experience of living with the illness, the importance of the doctor-patient relationship, the concept of limited autonomy to the pharmacology, the absence of the transition process as such, and the identification of barriers and needs for an adequate transition. CONCLUSIONS This study is new in Chile in that it explores the phenomenom of the transition of adolescents with chronic illnesses. It emphasises the need to reinforce the concept of self-care and autonomy from early stages of care, and the importance of early planning of a healthy transition process, in accordance to the detected needs of the adolescents themselves.

Sleep-disordered breathing in children with Down syndrome: Usefulness of home polysomnography.

OBJECTIVE: To investigate the technical feasibility of unattended home polysomnography (HPSG) in children with Down syndrome. METHODS: Data from children with Down syndrome under 10 years of age referred to a diagnostic sleep study was analyzed. A full sleep-lab based polysomnography (PSG) or a HPSG with a portable device was performed. Uninterpretable HPSGs were defined as: recordings with (i) loss of ≥2 of the following channels: nasal flow, or thoracoabdominal sensors, or (ii) HPSG with less than 4h of artifact-free recording time or (iii) less than 4h SpO2 (peripheral capillary oxygen saturation) signal. RESULTS: A total of 44 children (68% males) were included in the study, with a mean age of 3.6 (0.1-10) years. PSG was performed in 8 cases and HPSG in 36 cases. Six HPSG recordings were classified as uninterpretable and had to be repeated. Age, gender and BMI were no significant predictors of uninterpretability of the HPSG. Obstructive sleep apnea (OSA) was present in 61% (n=27) of all subjects, and classified as mild, moderate, and severe in 43% (n=19), 11% (n=5), and 7% (n=3) of cases, respectively. Interpretable and technically acceptable HPSGs were obtained in 30 subjects (83%). Age, gender and BMI were no significant predictors for interpretability of the HPSG. DISCUSSION: This study demonstrates that a portable polysomnographic home device may be helpful for diagnosing OSA in children with Down syndrome. Considering the potential consequences of untreated OSA, this screening test may be helpful for early diagnosis of OSA in children with Down syndrome.

[The transition process from paediatric to adult services: A perspective from hospitalised adolescent sufferers of chronic diseases]. / El proceso de transición de servicios pediátricos a adultos: visión de adolescentes hospitalizados portadores de enfermedades crónicas.

INTRODUCTION: Chronic illnesses during adolescence are a big challenge for the patient, his or her family, and health care providers. The transition from paediatric health services to adult health services involves a programmed and planned transfer process of adolescent sufferers of chronic illnesses, in order to maintain a high quality of life and bio-psycho-social development. There is currently no transition model. The objective of the study is to understand the transition process from the perspective of hospitalised adolescents to collaborate towards the design of a model that meets the needs studied. PATIENTS AND METHOD: Semi-structured interviews with 13 adolescent sufferers of chronic illnesses, hospitalised in two healthcare centres in Santiago, Chile, in one analytical-relational study, supported by qualitative methodology. RESULTS: In the analysis, 5 major themes stand out: experience of living with the illness, the importance of the doctor-patient relationship, the concept of limited autonomy to the pharmacology, the absence of the transition process as such, and the identification of barriers and needs for an adequate transition. CONCLUSIONS: This study is new in Chile in that it explores the phenomenom of the transition of adolescents with chronic illnesses. It emphasises the need to reinforce the concept of self-care and autonomy from early stages of care, and the importance of early planning of a healthy transition process, in accordance to the detected needs of the adolescents themselves.

[High rates of overweight and obesity in Chilean children with Down syndrome]. / Malnutrición por exceso: alta frecuencia de sobrepeso y obesidad en escolares chilenos con síndrome de Down.

BACKGROUND: Overweight and obesity in Down syndrome (DS) is a common problem. Chile has a high prevalence of DS. AIM: To determine overweight and obesity rates in students with DS and evaluate the concordance of three different growth charts. MATERIAL AND METHODS: Seventy nine students with DS aged between 6 and 18 years (56% males), from three different schools, were included. Weight and height were measured and their body mass index (BMI) was calculated. The nutritional diagnosis was made according to BMI. Myrelid SDM/2002, National Center for Health Statistics (NCHS)/2000, World Health Organization (WHO)/2007 charts for people with DS were used. RESULTS: Thirty percent of participants had hypothyroidism, 22.8% congenital heart disease and 5% asthma. Overweight and obesity rates according to SDM/2002, NCHS/2000 and WHO/2007 were 43, 57 and 66% respectively. The concordance between WHO/2007 and NCHS/2000 was almost perfect, but not with SDM/2002. CONCLUSIONS: A high rate of overweight and obesity was found in this group of children with DS, independent of the charts used or their comorbidities.

Malnutrición por exceso: alta frecuencia de sobrepeso y obesidad en escolares chilenos con síndrome de Down / High rates of overweight and obesity in Chilean children with Down syndrome

Background: Overweight and obesity in Down syndrome (DS) is a common problem. Chile has a high prevalence of DS. Aim: To determine overweight and obesity rates in students with DS and evaluate the concordance of three different growth charts. Material and Methods: Seventy nine students with DS aged between 6 and 18 years (56% males), from three different schools, were included. Weight and height were measured and their body mass index (BMI) was calculated. The nutritional diagnosis was made according to BMI. Myrelid SDM/2002, National Center for Health Statistics (NCHS)/2000, World Health Organization (WHO)/2007 charts for people with DS were used. Results: Thirty percent of participants had hypothyroidism, 22.8% congenital heart disease and 5% asthma. Overweight and obesity rates according to SDM/2002, NCHS/2000 and WHO/2007 were 43, 57 and 66% respectively. The concordance between WHO/2007 and NCHS/2000 was almost perfect, but not with SDM/2002. Conclusions: A high rate of overweight and obesity was found in this group of children with DS, independent of the charts used or their comorbidities.

[Receiving the diagnosis of Down syndrome: what do the parents think?]. / ¿Cómo reciben los padres la noticia del diagnóstico de su hijo con síndrome de Down?

BACKGROUND: Having a child with Down syndrome (DS) is usually unexpected and stressful. AIM: To describe the experiences of parents of children with DS at the time of diagnosis. MATERIAL AND METHODS: A self-administered survey was answered by 345 parents (62% women) with an offspring with DS. RESULTS: Eighty four percent of parents received a postnatal diagnosis of DS, 32.3% were informed of the diagnosis in the presence of his or her partner and 19.3%o received some form of printed material regarding DS. Fifty six percent of respondents considered that the delivery of the diagnosis was inadequate. Factors associated with an overall positive experience were prenatal diagnosis (Odds Ratio (OR) 3.91 (95% Confidence Intervals (CI) 2.06-7.44)) and the presence of both parents at the time of the delivery of the diagnosis (OR 1.84 (95%> CI 1.16-2.91)). Fifty three percent of respondents believe that prenatal diagnosis of DS is preferable. CONCLUSIONS: The majority of parents are unsatisfied with the way the diagnosis of DS is delivered. Efforts should be made to educate health personnel regarding the delivery of the diagnosis of SD, to foster opportunities for prenatal diagnosis and to improve the delivery of printed material.

¿Cómo reciben los padres la noticia del diagnóstico de su hijo con síndrome de Down?: what do the parents think? / Receiving the diagnosis of Down syndrome

Background: Having a child with Down syndrome (DS) is usually unexpected and stressful. Aim: To describe the experiences of parents of children with DS at the time of diagnosis. Material and Methods: A self-administered survey was answered by 345 parents (62% women) with an offspring with DS. Results: Eighty four percent of parents received a postnatal diagnosis of DS, 32.3% were informed of the diagnosis in the presence of his or her partner and 19.3%o received some form of printed material regarding DS. Fifty six percent of respondents considered that the delivery of the diagnosis was inadequate. Factors associated with an overall positive experience were prenatal diagnosis (Odds Ratio (OR) 3.91 (95% Confidence Intervals (CI) 2.06-7.44)) and the presence of both parents at the time of the delivery of the diagnosis (OR 1.84 (95%> CI 1.16-2.91)). Fifty three percent of respondents believe that prenatal diagnosis of DS is preferable. Conclusions: The majority of parents are unsatisfied with the way the diagnosis of DS is delivered. Efforts should be made to educate health personnel regarding the delivery of the diagnosis of SD, to foster opportunities for prenatal diagnosis and to improve the delivery of printed material.