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Early developmental screening tools constructed in Latin American countries: umbrella review
(Publicidad Permanyer, SLU, 2025-04-09)
SCHONHAUT BERMAN, LUISA
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Antonia Valdés
;
Ilan Oppenheimer
;
Antonio Rizzoli-Córdoba
;
Rolando Rivera
2Scopus© Citations 2
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Test de Aprendizaje y Desarrollo Infantil (TADI): Evidencia adicional de su validez a nivel poblacional
(Sociedad Chilena de Pediatria, 2025-02-18)
Marta Edwards
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Iván Armijo
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SCHONHAUT BERMAN, LUISA
;
Marcela Pardo
;
Antonia Valdés
El “Test de Aprendizaje y Desarrollo Infantil” (TADI) es una escala de tamizaje del desarrollo para niños/as de 6 a 72 meses construida en Chile.Objetivo: Determinar la validez de la primera edición de TADI muestra nivel poblacional.Metodología:Análisis psicométrico secundario de una muestra de 11.283 niños/as chilenos que participaron de la Encuesta Longitudinal de Primera Infancia (ELPI) 2012. Se evaluó validez convergente mediante el Análisis Factorial Confirmatorio (AFC), verificado mediante Análisis Factorial Exploratorio (AFE). Se consideraron variables sociales para la validez de constructo. Para la validez concurrente, sensibilidad, especificidad y correlación se tomaron como referencias las pruebas Battelle Developmental Inventory Segunda Edición (BDI-2) y el Test de Vocabulario en Imágenes Peabody (TVIP).Resultados: De los niños evaluados, 12,6% se categorizó en Retraso o Riesgo de Retraso, y 17,3% en categoría Alerta. El AFC arrojó buenos niveles de ajuste del modelo propuesto para los datos de la escala, en particular a edades mayores. El AFE reveló patrones diferentes para distintos rangos etarios. El TADI se correlacionó significativamente con los factores socioeconómicos, como la presencia de materiales de aprendizaje en el hogar, el nivel educativo del cuidador principal, el ingreso económico y la respuesta emocional de la madre. Se encontró correlación moderadamente positiva del TADI con el BDI-2 y el TVIP, con sensibilidad y especificidad cercanos a 0,70 al incluir la categoría Alerta.Conclusiones: Los adecuados valores psicométricos del TADI en una muestra poblacional ratifican su validez como instrumento de tamizaje del desarrollo de niños/as pequeños en Chile.
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<i>PUF60</i>‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic <i>PUF60</i> variants
(2023)
H. Grimes
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M. Ansari
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T. Ashraf
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Anna Mª. Cueto‐González
;
A. Calder
<jats:title>Abstract</jats:title><jats:p><jats:italic>PUF60</jats:italic>‐related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of <jats:italic>PUF60</jats:italic>, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with <jats:italic>PUF60</jats:italic>‐related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with <jats:italic>PUF60</jats:italic> gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel <jats:italic>PUF60</jats:italic> variants. The addition of a further patient with a reported c449‐457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in <jats:italic>PUF60</jats:italic>‐related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in <jats:italic>PUF60</jats:italic>‐related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with <jats:italic>PUF60</jats:italic>‐related developmental disorder which has important genetic counseling implications for families.</jats:p>
Scopus© Citations 5 1
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Comparison between Ages & Stages Questionnaire and Bayley Scales, to predict cognitive delay in school age
(2020)
SCHONHAUT, LUISA
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Marcela Pérez
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Iván Armijo
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MATURANA PEREA, ANDRES
3 1Scopus© Citations 41
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A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
(2020)
Masamune Sakamoto
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Den Kouhei
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Muzhirah Haniffa
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Sebastián Silva
;
Mónica Troncoso
9Scopus© Citations 16
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Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
(2021)
Francesco Saettini
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POLI HARLOWE, MARIA CECILIA BERTA
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Jaime Vengoechea
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Sonia Bonanomi
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Julio C. Orellana
<jats:title>Abstract</jats:title> <jats:p>Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1−/− animal model. Moreover, we identified either uniparental disomy or copy-number variants (CNVs) in 2 patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.</jats:p>
Scopus© Citations 28 2
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Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies
(2015)
GUILLERMO ROBERTO LAY SON RODRIGUEZ
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Karena Espinoza
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VIAL COX, MARIA CECILIA
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Juan C. Rivera
;
María L. Guzmán
Scopus© Citations 13 1

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