Tiempo requerido para la administración y evaluación del Cuestionario Prunape Pre-Pesqusia (CPPP) / Time needed for the adminsitration and evaluation of the Prunape Pre- Pesquisia (CPPP) questionnaire

Con el objetivo de evaluar el tiempo que toma la administración de Cuestionario PrunPe Pre-Pesquisa (CPPP), diseñado en Acumar para detectar en forma confiable aquellos niños con alto riesgo de no pasar la Prueba Nacional de Pesquisa (PRUNAPE), se midió en forma ciega a 98 madres con sus niños, el tiempo que lleva su llenado y evaluación de dos formas: autoadministrado (por la madre), y administrado por personal de salud. Se evaluaron dos partes: a) la administración, y b) la evaluación final (pasa / no pasa el cuestionario). El tiempo lo midieron los mismos 11 profesionales de la salud que administraron el cuestionario, con cronómetros de teléfonos celulares, y con la precisión de un segundo. Los cuestionarios son cinco, uno para cada grupo de edad: 6 a 11, 12 a 17, 18 a 29, 30 a 47, 48 a 71 meses. La mediana del tiempo total de toma del cuestionario fue de 7 minutos (´) 33segundos (“), y 4´47” y 12¨19” para los percentiles 10° y 90° respectivamente. Los tiempos no fueron los mismos para los cinco formularios ni para los que pasaron o no pasaron el cuestionario. El análisis de variancia (P 0.01)mostró que las dos variables influyen significativamente en la duración de la toma: si el niño no pasa y el niño es mayor de 30 meses, el tiempo es más largo. El CPPP resulta una herramienta que se administra en poco tiempo, lo que la hace costo-efectiva para seleccionar los niños a quienes es altamente necesario administrarle la Prueba Nacional de Pesquisa en programas de tamizaje en grandes grupos de población.

With the aim to evaluate the time to administer the PrunPe Pre-Pesquisa Questionnaire (CPPP), designed in Acumar to reliably identify those children at high risk of not passing the National Screening Test (PRUNAPE)....

[Osteogenesis imperfecta. Clinical, functional and multidisciplinary evaluation of 65 patients]. / Osteogénesis imperfecta. Evaluación clínica, funcional y multidisciplinaria de 65 pacientes.

INTRODUCTION: Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life. PATIENTS AND METHODS: Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated. RESULTS: Thirty-five were type I OI, and thirty were types III-IV. Median age was 7.8 years (range 1.9-19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was -1.4 sDS and -5.64 sDS in types I and III-IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck's motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases. CONCLUSIONS: Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.

Contribución de la vigilancia del crecimiento a la calidad de atención: un modelo de gestión / Contribution to the monitoring of growth and quality of patient care: a management model

El estudio del crecimiento a largo plazo de niños con raquitismo hipofosfatémico familiar, demostró que 18 de los 30 pacientes estudiados no crecían adecuadamente, y que a su vez este pobre crecimiento estaba asociado a una falta de cumplimiento de la ingesta de fósforo indicada por el médico tratante, medicación que forma parte esencial de la terapia. Entre las principales causas identificadas de falta de cumplimiento se encontró la incapacidad de muchas farmacias del país de preparar la solución de sales de fósforo, las dificultades de transporte y conservación de dichas sales, la inestabilidad de la solución, la falta de recursos de los pacientes sin cobertura, la dificultad de las obras sociales en financiar las sales en los pacientes con cobertura. Luego de reuniones mantenidas entre miembros de un equipo multidiciplinarios formado ad hoc, la farmacia del hospital logró preparar una cápsula con sales de fósforo para ser disuelta en agua en el hogar, se estableció un circuito de entrega gratuita del medicamento al paciente aprobado por las autoridades del Hospital, y un sistema de cobro a los organismos pagadores en los casos que correspondiera. La autorización de la Dirección fue tomada en base a la necesidad de mejorar la calidad de atención en estos pacientes, al relativo bajo costo del medicamento (1180 pesos por pacientes por año), y el escaso número de pacientes bajo tratamiento. La vigilancia del crecimiento en pacientes crónicos probó en este caso ser una herramienta confiable y sencilla para detectar un problema generalizado en el tratamiento de una enfermedad y mejorar la calidad de la atención.

Crecimiento a largo plazo de pacientes con raquitismo hipofosfatémico familiar (RHF) / Long term growth in patients with familial hypophosphatemic rikets

El raquitismo hipofosfatémico familiar (RHF) es una condición genética trasmitida en la mayoría de los casos en forma dominante ligada al sexo, que se asocia a un pérdida renal de fosfatos, con secundaria hipofosfatemia, déficit de osificación, incurvación de miembros inferiores y retraso de crecimiento. Objetivo: describir el crecimiento y su relación con el cumplimiento del tratamiento a largo plazo, en un grupo de pacientes seguidos en el Hospital Garrahan por los servicios de Crecimiento y Desarrollo, Nefrología y Endocrinología. Tiempo de observación de 1.0 a 16.4 años. Población y Métodos: N= 30 pacientes (18 mujeres y 13 varones). Se midió la estatura según técnica estandarizada y se trataron los pacientes en forma uniforme con sales de fósforo 1-25 (HO2) vitamina. Se definió incumplimiento del tratamiento como la discontinuidad de la ingesta de sales de fósforo de más de un mes por año. Resultados: La edad mediana de inicio de tratamiento fue 4.92 años (r: 0.7/12.7), talla media: -2.85 Ds (r. -42/6.7) y a la última consulta: 15.04 años (r: 4.66/20.73), talla media: -3.31 Ds (r: -0.70/-6.6). En promedio, los niños crecieron entre 2.8/3.0 DS. Hubo 12 niños que perdieron estatura durante el seguimiento. La mayor proporción del déficit de talla ya estaba presente al diagnóstico. La regresión logística entre pérdida de talla en puntajes z (0.5 DS o más), y cuatro variables independientes (edad al diagnóstico), cumplimiento del tratamiento, sexo y talla al diagnóstico, cumplimiento al tratamiento, sexo y talla al diagnóstico) reveló que sólo las dos primeras están significativamente relacionadas al déficit de crecimiento (P 0.02 y 0.03 respectivamente). Conclusión: la edad tardía al diagnóstico y el incumplimiento del tratamiento se asocian a déficit de crecimiento.

Validación de la prueba nacional de pesquisa de trastornos de desarrollo psicomotor en niños menores de 6 años / Validation for screening test of detecting psychomotor development problems in children under six

Introducción. El uso de una prueba de pesquisa en los primeros años de vida permite la detección temprana de retrasos en el desarrollo psicomotor y su tratamiento oportuno. En la Argentina contamos con una Prueba Nacional de Pesquisa preparada en base a un estudio nacional. El objetivo del trabajo fue validar la prueba, comparando sus resultados con evaluaciones diagnósticas, realizadas en forma simultánea por varios servicios del Hospital Garrahan. Pacientes y métodos. Se seleccionó una muestra de 106 niños de 0 a 5,99 años que concurrían al área de bajo riesgo del Hospital. Se realizaron los siguientes estudios diagnósticos: evaluación del desarrollo psicomotor (Bayley II), examen neurológico, salud mental, coeficiente intelectual (Wechsler, Terman), conducta adaptativa (Vineland), lenguaje (prueba de Gardner receptiva y expresiva, ITPA), audición (emisiones otoacústicas, audiometría tonal, PEAT), examen visual. Se utilizó el DSM-IV como referencia de trastornos del desarrollo. Se evaluó la sensibilidad y especificidad obtenidas según la aplicación de diferentes puntos de corte (número de ítems fracasados). Resultados. El mejor punto de corte se estableció en un ítem tipo A o 2 tipo B, con una sensibilidad del 80%, especificidad: 93%, valor predictivo positivo: 94%, valor predictivo negativo: 77%, porcentaje de coincidencia: 85%. Fue inesperada la elevada prevalencia de problemas de desarrollo encontrada en la muestra: 57%. La prueba es capaz de detectar problemas en las cuatro áreas del desarrollo, incluidos trastornos del lenguaje. Conclusión. Los resultados confirman a la Prueba Nacional de Pesquisa como un instrumento válido para ser usado en el primer nivel de atención para el reconocimiento de niños con sospecha de sufrir trastornos del desarrollo. Asimismo, el trabajo de información permite establecer diferentes puntos de corte y constituye un instrumento útil para su aplicación en la práctica pediátrica.

The use of a screening test in the first years of life allows the early detection of delays of psychomotor development and its treatment, thus contributing to improve the prognosis of the child with special needs. In Argentina, a screening test for detecting developmental problems in children under 6, made with local children and data is available (PRUNAPE). A validation procedure for this test was carried out on 106 children attending at low risk outpatient clinic in Hospital Garrahan. The test was administered to the children together with a battery of diagnostic examinations and studies, performed by experienced specialists from different Hospital services: psychomotor development, neurology examination, mental health, intellectual quotient (Wechsler, Terman), adaptive behaviour (Vineland), language (Gardner expressive and receptive, ITPA), hearing (otoacustic emissions, audiometry, BERA), vision. The DSM ­IV was used as a reference for developmental problems. Using as a failure criterion to the PRUNAPE, the failure of performing correctly one type A item or two type B item, sensitivity of the test was 80%, specificity, 93%; positive predictive value, 95%; negative predictive value, 77%; overall agreement, 85%. A very high prevalence of developmental problems was found: 57%. PRUNAPE was found to be capable of detecting a wide range of problems. These results confirm PRUNAPE as a valuable instrument for early detection of developmental problems in paediatric practice at the primary care level.

Short-term growth at adolescence in healthy girls.

UNLABELLED: In the last decade, most investigators found that growth measured on a daily or weekly basis is a non-linear process, but its precise pattern has not yet been fully determined. Data are particularly scarce during puberty. On this basis we evaluated the daily growth in 10 healthy girls during their adolescent growth spurt with replicated height measurements over a period of 128-150 days. The technical error of measurement in each girl varied between 0.08 and 0.12 cm. A jump-preserving smoothing technique based on the technical error with a hard rejection criterion was used. Growth was defined as any increment between two consecutive smoothed values greater than 6 times the standard deviation of the difference of two consecutive smoothed values under the non-growth (stasis) assumption. Steep changes in height were conventionally defined as any 1-day increment greater than 0.3 cm. RESULTS: All girls showed stasis periods, steep changes and days with a continuous growth with a wide range of daily increments in height. The number of stasis periods in each girl varied between three and seven, lasting between 7 and 22 consecutive days. The number of steep changes in each girl ranged between one and four with a mean amplitude between 0.37 and 0.52 cm. The sum of these steep changes calculated in each girl as a percentage of total growth during the study period ranged from 15.3 to 42.9%; the remaining growth was due to continuous growth. Rhythms or cycles were not found. CONCLUSION: Short-term growth during the pubertal growth spurt in these healthy girls is an irregular and discontinuous process, composed of three types of events: stasis, steep changes and continuous growth periods with a wide individual range of daily height increments.

Validación de la prueba nacional de pesquisa de trastornos de desarrollo psicomotor en niños menores de 6 años / Validation of the national development disorders screening test in children younger thn 6 years

Introducción.El uso de una prueba de pesquisa en los primeros años de vida permite la detección temprana de retrasos en el desarrollo psicomotor y su tratamiento oportuno.En la Argentina contamos con una prueba Nacional de Pesquisa preparada en base a un estudio nacional.El objetivo del trabajo fue validar la prueba,comparando sus resultados con evaluaciones diagnósticas,realizadas en forma simultanea por varios servicios del Hospital Garrahan.Pacientes y métodos.Se selecciono una muestra de 106 niños de 0 a 5,99 años que concurrián al área de bajo riesgo del Hospital.Se realizaron los siguientes estudios diagnosticos:evaluacion del desarrollo psicomotor(Bayley II)examen neurológico,salud mental,coeficiente intelectual(Wechsler,Terman)conducta adaptativa(Vineland)lenguaje(prueba de Gardner receptiva y expresiva,ITPA)audición(emisiones otoacústicas,audiometría tonal,PEAT)examen visual.Se utilizó el DSM-IV como referencia de trastornos del desarrollo.Se evaluó la sensibilidad y especifidad obtenidas según la aplicación de diferentes puntos de corte(número de ítems fracasados).Resultados:El mejor punto de corte se estableció en un ítem tipo A o tipo B,con una sensibilidad del 80 por ciento,especificidad:93 por ciento,valor predictivo positivo:94 por ciento,valor predictivo negativo:77 por ciento,porcentaje de coincidencia:85 por ciento.Fue inesperada la elevada prevalencia de problemas de desarrollo encontrada en la muestra:57 por ciento.La prueba es capaz de detectar problemas en las cuatro áreas del desarrollo,incluidos trastornos del lenguaje.Conclusión.Los resultados confirman a la prueba Nacional de Pesquisa como un instrumento válido para ser usado en el primer nivel de atención para el reconocimiento de niños con sospechas de sufrir trastornos de desarrollo,Asimismo,el trabajo de información permite establecer diferentes puntos de corte y constituye un instrumento útil para su aplicación en la práctica pediátrica

Height velocity in Argentinean girls with Turner's syndrome.

Height velocities from birth to maturity derived from 1,049 height increments measured over intervals 0.85-1.15 years were studied from a sample of 187 patients with Turner's syndrome (TS) diagnosed on the basis of karyotype. Length of follow up in each girl varied from 1.0 to 11.0 years. Cross-sectional analysis showed a relatively stable growth velocity during pubertal ages. However, longitudinal analysis of individual growth curves showed the existence of a small growth spurt in 37 out of 47 girls with available data during pubertal years. Mean peak height velocity (PHV) of this spurt was 5.7 cm/year, SD 1.34; mean age at PHV was 12.66 years, SD 1.70. Selected percentiles were calculated using the least mean squares (LMS) method. Results show that a small growth spurt in girls with TS may be more frequent than previously thought.

Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement.

A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age.

Normal growth velocity before diagnosis of celiac disease.

BACKGROUND: Clinical experience leads us to believe there may be patients with celiac disease who have not yet been treated, with a normal physical growth. METHODS: To evaluate height velocity of patients with confirmed celiac disease before their diagnosis and treatment, anthropometric measurements taken by the general pediatricians in charge of the primary care of the patients before they were sent to the authors' hospital were studied. Forty-two growth periods (available velocities) were measured at varying intervals (ranging from 6 to 27 months) in 23 patients aged 0.1 to 10.66 years were analyzed. RESULTS: All patients studied during the first semester of life (n = 5) showed normal growth velocity, and 6 of 10 patients showed normal growth velocity during the second semester of life. Ten of 12 patients between the ages of 1.0 and 1.99 years of age showed normal height velocity, and 7 of 9 patients aged 2.0 to 10.66 years showed normal height velocity. Normal height velocities were found not only during the first year of life, but also in children aged 1 to 8 years. CONCLUSIONS: Results should alert pediatricians and those in gastroenterology and growth clinics. In the latter case, norms for studying children who have short stature but are growing at a normal rate should not be a condition for excluding a child from screening for celiac disease.

A countrywide programme of continuing professional development in Argentina. Argentine Society of Paediatrics, Subcommittee of Continuing Paediatric Education.

The Argentinean Society of Paediatrics introduced in 1993 a continuing professional development (CPD) programme to raise standards of clinical practice. The aims of the project were to introduce a structured, distance learning programme accessible to all paediatricians in the country, but especially for those working far from centres of paediatric excellence. The programme is planned on an annual basis. It includes four activities: a written manual designed by a team of medical experts and educationalists comprising 12 topics; field work for participants; annual meetings in several locations in the country for discussion of the subjects; and an evaluation based on centrally designed multiple choice questions distributed by mail. In spite of a registration free of 90 Pounds a year, participation in the programme increased from 3357 in 1993 to 4126 in 1996, from a membership of 10 216 paediatricians in Argentina. The popularity of the programme may result from an appropriate interpretation of professional needs of paediatricians in Argentina, adequate organisational arrangements that reach all colleagues, including those working in remote areas, and a genuine motivation of paediatricians for participating in a learning process.

The organisation of a national survey for evaluating child psychomotor development in Argentina.

A total of 211 selected paediatricians were invited to participate in a national survey designed to evaluate the age of attainment of developmental milestones in children aged 0-5 years. Following a pilot study and a cascade training design, 61.1% of the paediatricians successfully completed the data collection on 139 developmental items. In the pilot study, there were more missing (not performed) items in children over one year of age, thus confirming the impression that paediatricians are more familiar with evaluating development in infants. However, in the age range 1-5 years, there were significantly fewer missing items in the gross motor area than in the other areas. Following a training programme and data editing and cleaning, a final sample of 3573 healthy, normal children was obtained. The impact of the training process was significant, in the sense that 3.5% of the items in children older than one year were not performed by the paediatricians before training, but this percentage was reduced to 1.9% after training (P < 0.01). The sample formed 0.11% of the national population less than 6 years of age and included a sex ratio of 1.01 compared with a national ratio of 1.02. There were no significant differences in the geographical distribution of the sample in comparison with that of the national population. The social composition, assessed by maternal education level, was biased towards a better education level than the national population. Mean Z-scores for height and weight were not significantly different from zero, when calculated on the basis of the national growth standards. In addition to successfully obtaining a representative sample for the analysis of the age of attainment of developmental milestones in Argentinian children, the survey also accomplished an educational objective in the training of paediatricians in developmental paediatrics.

Skeletal maturity of the hand and wrist of healthy Argentinian children aged 4-12 years, assessed by the TWII method.

One previously trained observer assessed skeletal maturity in a representative sample of 388 and 387 healthy girls and boys respectively from La Plata city, a predominantly university and administrative urban centre in Argentina. The staging system used was TWII and the scores were calculated from three sources: British, Spanish and Italian standards. Our sample showed a marked advancement in bone age with regard to chronological age when using British standards and, to a lesser extent, when applying the Spanish standards. Local mean bone ages were very similar to chronological ages when the Italian scores were used. Second-degree polynomials were adjusted to log10 scores for boys and girls, in order to obtain local values for bone age (BA) transformations. The same staging system should be used in clinical work in Argentina, with the corresponding changes in BA transformatons. A marked advancement of carpal BAs with regard to RUS BAs was found, from age 5 onwards, in both sexes. Mean differences and SD of RUS-minus-carpal BA were 1.28, SD 1.08 and 1.18, SD 1.09 years for girls and boys respectively. These differences have not been described before, and require further investigation.

Growth of Argentinian girls with Turner syndrome.

Growth data on 254 patients with Turner syndrome from Argentina-120 with XO karyotype and 134 with other chromosomal abnormalities-were analysed. Birth weight and height were significantly reduced. Ninety patients had received oestrogen treatment from a mean age of 14-0 years (SD 1.2) and 17 patients had spontaneous menarche. Patients who underwent spontaneous menarche had a small growth spurt. Final height was slightly higher (139.8 cm SD 5.6), though not significantly different from the mean adult height of the whole sample (137.9 cm SD 5.7). Mean adult height was 3.73 SD below mean of the normal local population. Mean height velocities from birth to maturity are very similar to those found in other samples. Distance standards were prepared by fitting a fifth-degree polynomial to the interpolated mean heights at each 0.5 year of age, and to the raw SD. Selected centiles were then calculated from the smoothed values. Differences between adult height in local Turner syndrome girls and local normal population are very similar to the same Turner-normal differences described in other communities. Standards presented here are useful for evaluating Turner syndrome patients from Argentina, and may also be used by those with similar growth pattern in their normal population.

Validity of reported parental height in outpatient growth clinics in Buenos Aires city.

Differences between reported and properly measured parental height were evaluated in 82 mothers and 62 fathers attending either of two growth clinics in Buenos Aires city. Measured height was adjusted to its physiological decline with age. A significant trend towards overestimation of mother's and father's self stature and of mothers' report of their husband's stature was found in the private clinic (PRC). Variances of differences between reported and measured height were significantly greater in mothers attending the clinic of the public hospital (PUC), thus suggesting more inaccurate estimations in lower-class families. Ranges of differences were 5.0/-4.8 and 5.6/-5.8 cm for mothers' and fathers' self-estimations in the PRC. Figures for the PUC were 12.2/-6.7 and 5.0/-5.9 cm respectively. Ranges of differences in mothers' report of their husbands' heights were 5.1/-1.7 (PRC) and 9.4/-14.6 cm (PUC). Partial regression and correlation coefficients showed a significant trend of taller parents to be more inaccurate in their reporting. There were neither age nor sex influences on the accuracy or parental estimations. Individual variations in the errors found show the importance of measuring actual parental height for growth assessment in a clinical setting.