Macarena Lizama

Síndrome de Ramsay-Himt en Pediatría: Reporte de cuatro casos y revisión de la literatura

El sindrome de Ramsay-Hunt (SRH) corresponde a una inusual afeccion caracterizada por paralisis facial periferica (PFP), erupcion en el pabellon auricular ipsilateral y compromiso cocleo-vestibular. Es producida por reactivacion del virus varicela zoster (VVZ) a nivel del ganglio geniculado. Se reporta una serie de cuatro pacientes entre 3 y 17 anos de edad con SRH. La otalgia fue el primer sintoma en dos casos, tres de ellos presentaron sintomatologia vestibular periferica y uno deficit cocleo-vestibular. La inmunofluorescencia directa de hisopado de lesion vesicular fue positiva para VVZ en dos ninos. Todos recibieron tratamiento con aciclovir y tres recibieron ademas corticoesteroides. Tres ninos tuvieron recuperacion clinica completa. El SRH es una entidad poco frecuente en pediatria y debe sospecharse en ninos con PFP, eritema, vesiculas y/o dolor auricular, ya que el tratamiento precoz con aciclovir pudiera mejorar la evolucion de la PFP.

Association of isolated preauricular tags and nephrourological anomalies: case-control study.

Isolated preauricular tags (IPT) are considered minor malformations whereas nephrourological anomalies (NUA) are considered major malformations. Their incidences fluctuate between 5 and 10 per 1,000 and 1–3 per 100 live births, respectively. There is contradictory evidence regarding the incidence of NUA in infants with IPT. The objective of this study is to determine if there is a clinical association between IPT and NUA. A case-control study was made in a Pediatric hospital in Santiago, Chile, with infants born between April 2000 and April 2005, considering as cases those with IPT, and controls those infants born following the cases, paired by sex and without IPT. All subjects had a complete physical examination and a renal ultrasound to assess for the presence of congenital anomalies and NUA, respectively. One hundred cases and an equal number of controls were included. There were 41 females in each group. In the case group, two infants presented renal anomalies in the RUS: one left hydronephrosis and one case of left kidney agenesis. In the control group, two infants with anomaly were found: one with a left ureterocele and one case of bilateral duplex kidney. The observed incidence of NUA was similar in both groups to that reported in the literature for the general population. No significant statistical difference was found in the incidence of these abnormalities between patients who presented with IPT and those who did not. From our study, we suggest that RUS is not necessary in the routine evaluation of infants with IPT.

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.

El proceso de transición de servicios pediátricos a adultos: visión de adolescentes hospitalizados portadores de enfermedades crónicas

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.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.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.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.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.

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.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.

Good health indicators in children with Down syndrome: High frequency of exclusive breastfeeding at 6 months

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, childs 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.Aim: To describe the frequency of exclusive breastfeeding at 6 months in binomial of mother and infants with Down Syndrome (DS) attending at the Health net UC CHRISTUS (PSSPSD-UC), and identify 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 breastfeeding. 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 malformation 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.

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.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.

The transition process from paediatric to adult services: A perspective from hospitalised adolescent sufferers of chronic diseases

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.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.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.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.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.

Perfil de morbilidad en adolescentes chilenos con síndrome de Down

Background: There 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.

International Perspectives: Chile

In the past 50 years, Chile has transitioned from an underdeveloped to a developing country with important improvements in health indicators. The creation of a National Health Service with hospitals and health centers across the country, in addition to national health programs are the main factors behind this achievement. The decrease of infant mortality has led to an increase in the number of vulnerable infants with disorders that evolve to chronic conditions and compromised quality of life. In Chile, 12.9 % of the population has some degree of disability and 9 % has intellectual and developmental disability (IDD). Since 1994 several policies and laws have been enacted to protect children and adults with disabilities. Also, in 2008 Chile ratified the “Convention on the Rights of Persons with Disabilities” of the United Nations. During the past 10–20 years, governmental health programs for health promotion and protection of children’s rights have been created. These programs are aimed at underprivileged groups, including children with IDD. In Chile there are health surveillance programs for preterm children (PT) and for children with Down syndrome (DS). The growing group of children with autism spectrum disorder (ASD) needs more attention; at the time of writing, there is no special health program for them. Currently a National Health Program for Children has been developed including new recommendations for the care of children with IDD. However there are still inequities in the access to quality health care attention and therapies especially in regions far from the capital city. Some rehabilitation services are available for children with IDD, they mostly consist of physical and occupational therapy, and there is a big need of early intervention services.