Percepções de familiares sobre uma rede de cuidados de saúde mental infantojuvenil / Family perceptions about a children's mental health network / Percepciones familiares sobre una red de atención de salud mental infantojuvenil

Este artigo pretende conhecer como a rede de cuidados em saúde tem se operacionalizado a partir da percepção de familiares de crianças com demanda de cuidado em saúde mental (SM). Foram realizados dois grupos focais, um com familiares da Atenção Básica (AB) e outro com familiares do Centro de Atenção Psicossocial Infantojuvenil (CAPSij), totalizando 15 participantes. Seguiu-se com a análise lexical do tipo classificação hierárquica descendente, com o auxílio do software R Interface, a fim de análises multidimensionais de textos e questionários (IRaMuTeQ), resultando em cinco classes: A Pílula Mágica; Forças e Fraquezas dos serviços; Procurando por ajuda; Aceitando o diagnóstico da criança e Onde procurei ajuda. Os resultados apontam para dificuldades presentes na AB em identificar e manejar situações de Saúde Mental Infantojuvenil (SMIJ), por meio de uma lógica ainda medicalizante. Ressalta-se que a escola é apresentada como lugar de destaque na produção da demanda por cuidado e a família ainda é pouco convocada à construção das ações. Conclui-se, então, que avanços ainda são necessários para operacionalização de um cuidado pautado nas diretrizes da política de SMIJ.(AU)

This article aims to know how the healthcare network has been operationalized from the perception of family members of children with demand for mental health care (MH). Two focus groups were held, one with family members from Primary Care (PC) and the other with family members from the Child Psychosocial Care Center (CAPSij), totaling 15 participants. A lexical analysis of the descending hierarchical classification type was performed with the help of the software R Interface for multidimensional analyzes of texts and questionnaires (IRAMUTEQ), resulting in five classes: The Magic Pill; Strengths and Weaknesses of services; Looking for help; Accepting the child's diagnosis; and Where did I look for help. The results point to difficulties present in PC in identifying and managing situations of mental health in children and adolescents (MHCA), with a medicalization logic. Note that the school is presented as a prominent place in producing the demand for care, and the family is still not very much involved in the actions. It is, thus, concluded that advances are still needed for operationalization of care guided by MHCA policy guidelines.(AU)

Este artículo tuvo por objetivo conocer cómo opera una red asistencial a partir de la percepción de familiares de niños con demanda de atención en salud mental (SM). Se realizaron dos grupos focales, uno con familiares de Atención Primaria (AP) y otro con familiares del Centro de Atención Psicosocial Infantojuvenil (CAPSij), totalizando 15 participantes. Se realizó análisis léxico del tipo clasificación jerárquica descendente con la ayuda del software Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires (IRAMUTEQ), lo que resultó en cinco clases: "La píldora mágica"; "Fortalezas y debilidades de los servicios"; "En busca de ayuda"; "Aceptar el diagnóstico del niño" y "¿Dónde busqué ayuda?". Los resultados apuntan las dificultades presentes en AP para identificar y manejar situaciones de salud mental infantojuvenil (SMIJ) mediante una lógica aún medicalizante. La escuela tiene un lugar destacado en la producción de la demanda de cuidados y la familia aún no está muy involucrada en la construcción de acciones. Se concluye que se necesitan avances para ofertar una atención guiada por lineamientos de la política del SMIJ.(AU)

Os sentidos produzidos por cuidadoras escolares de crianças com SCZV / Los sentidos producidos por cuidadores escolares de niños con SCZV / The senses produced by school caregivers of children with SCZV

RESUMO. Este estudo, fundamentado na perspectiva da psicologia cultural-histórica sobre a pessoa com deficiência, teve por objetivo apreender a dimensão subjetiva da realidade (ou as mediações) das crianças com a Síndrome Congênita do Zika Vírus (SCZV) no contexto escolar de desenvolvimento e aprendizagem a partir dos sentidos produzidos por cuidadoras escolares. Para tal, foram realizadas entrevistas semiestruturadas com três cuidadoras escolares que trabalham em três creches pertencentes ao sistema de educação de ensino de Campina Grande/PB. Para análise dos dados, foi realizado o procedimento dos Núcleos de Significação, que visa à apreensão das contradições que constituem as produções de significação discursiva dos sujeitos participantes. Os resultados indicaram que as cuidadoras escolares priorizam a mediação pedagógica na relação estabelecida com as crianças com SCZV, embora não desconsiderem a instância do cuidado em termos das necessidades especiais relacionadas à integridade psicomotora que essas crianças apresentam. Ademais, foi evidenciado que as participantes salientam as potencialidades das crianças em detrimento da falta ou lesão gerada pela deficiência.

RESUMEN. Este estudio, basado en la perspectiva de la psicología cultural-histórica sobre las personas con discapacidad, tenía como objetivo apreciar la dimensión subjetiva de la realidad de los niños con Síndrome Congénito del Virus del Zika (SCVZ). en el contexto escolar del desarrollo y el aprendizaje de los significados producidos por los cuidadores escolares. Para ello, se realizaron entrevistas semiestructuradas con tres cuidadores escolares de guarderías diferentes que pertenecen al sistema educativo de Campina Grande/PB. Para el análisis de datos, se realizó el procedimiento de los núcleos de significación, cuyo objetivo es aprehender las contradicciones que constituyen las producciones de significado discursiva de los participantes. Los resultados indicaron que los cuidadores de la escuela dan prioridad a la mediación pedagógica en la relación establecida con los niños con SCVZ, aunque no descuidan la instancia de cuidado en cuanto a las necesidades especiales relacionadas con la integridad psicomotora que tienen estos niños. Además, se destacó que los participantes ponen de relieve el potencial de los niños en detrimento de la falta o lesión generada por la discapacidad.

ABSTRACT This study is based by the perspective of the cultural-historical psychology on people with disabilities, aimed to apprehend the subjective dimension of the reality (or mediations) of children with Congenital Zika Virus Syndrome (CZVS) on the school context development and learning from the senses produced by school children caregivers. For this reason, semi-structured interviews were conducted with three caregivers working in three daycare centers belonging to the teaching system of education in Campina Grande/PB. For data analysis, was performed the meaning core, which aims to apprehend the contradictions that constitute the productions of discursive meaning in the participating subjects. The results indicated that school caregivers prioritize the mediation in the relationship established with children CZVS, though not disregard the instance of care in terms of the special needs related to psychomotor integrity that these children have. Furthermore, it was evidenced that the participants emphasize the children's potentialities to the detriment of the lack or injury generated by the disability.

Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with ocular anomaly, microcephaly, growth retardation and intrauterine growth restriction.@*METHODS@#The patient underwent ophthalmologic examinations including anterior segment photography, fundus color photography, and fundus fluorescein angiography. The patient and her parents were subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The patient was found to have bilateral persistent pupillary membrane and coloboma of inferior iris, in addition with macular dysplasia and radial pigmentation near the hemal arch of the temporal retina. She was found to have carried compound heterozygous missense variants of the PHGDH gene, namely c.196G>A and c.1177G>A, which were respectively inherited from her father and mother. Bioinformatic analysis suggested both variants to be pathogenic.@*CONCLUSION@#The patient was diagnosed with phosphoglycerate dehydrogenase deficiency. Above finding has enriched the phenotypic spectrum of the disease with ocular manifestations.

Sociodemographic and Maternal Risk Factors Associated with Psychomotor Retardation in Infants under Two Years Old in Tabasco / Factores de riesgo sociodemográficos y maternos asociados al retraso psicomotor en infantes menores de dos años en Tabasco / Fatores de risco sociodemográficos e maternos associados ao atraso psicomotor em crianças menores de dois anos em Tabasco

Abstract Introduction: Adequate psychomotor development during the first years of life significantly impacts the growth of each infant, so the timely detection of risk factors that affect this development is of vital importance. The objective was to determine sociodemographic and maternal factors associated with the presentation of psychomotor retardation in infants under two years old who attended the Centro de Rehabilitación y Educación Especial in Villahermosa (Tabasco, Mexico) in 2017. Materials and methods: An observational, retrospective study of cases and controls in infants under two years old. Data collection was performed using a questionnaire consisting of 45 questions, which included variables such as psychomotor retardation, prenatal, perinatal, and postnatal risk factors, that used Pearson's chi-square test and Fisher's exact test, with a significant correlation of p <.05 being accepted . Results: A low social class showed a significant relationship with psychomotor retardation (p =.000), while the presence of infections at a very young age in the newborn, a family history of psychomotor retardation, and a history of disease during pregnancy showed a value of p <.05. Conclusión: A low socioeconomic status, pregnancy-associated diseases such as malnutrition, high blood pressure, and traumatic accidents, as well as infectious diseases at birth were the main factors that conditioned psychomotor retardation.

Resumen Introducción: el adecuado desarrollo psicomotor en los primeros años de vida influye significativamente en el crecimiento de cada sujeto, por lo que la detección oportuna de factores de riesgo que lo afecten es de vital importancia. El objetivo fue determinar factores sociodemográficos y maternos asociados a la presentación del retraso psicomotor en infantes menores de dos años que acudieron al Centro de Rehabilitación y Educación Especial en Villahermosa (Tabasco, México) en el 2017. Materiales y métodos: estudio observacional, retrospectivo de casos y controles en infantes menores de dos años. Los datos se recolectaron mediante un cuestionario de 45 ítems, que incluyó variables como retraso psicomotor, factores de riesgo prenatales, perinatales y posnatales. Se emplearon las pruebas chi cuadrado de Pearson y la prueba exacta de Fisher. Se aceptó una correlación significativa de p<0.05. Resultados: el estrato social bajo mostró una relación significativa con el retraso psicomotor (p = 0.000), así como la presencia de infecciones a una edad muy temprana en el recién nacido, el historial de antecedente familiar y el antecedente de enfermedad en el embarazo (p<0.05). Conclusión: un estatus socioeconómico bajo, enfermedades asociadas al embarazo como malnutrición, hipertensión arterial y accidentes traumáticos, además de las enfermedades infecciosas al nacer, fueron los principales factores que condicionaron el retraso psicomotor.

Resumo Introdução: o adequado desenvolvimento psicomotor nos primeiros anos de vida impacta significativamente no crescimento de cada sujeito, pelo que a detecção oportuna de fatores de risco que o afetem é de vital importância. O objetivo foi determinar fatores sociodemográficos e maternos associados à apresentação do atraso psicomotor em crianças menores de dois anos que acorrem ao Centro de Reabilitação e Educação Especial em Villahermosa (Tabasco, México) em 2017. Materiais e métodos: estudo observa-cional, retrospectivo de casos e controles em crianças menores de dois anos. A recolecção de dados se realizou mediante um questionário de 45 itens o qual incluiu variáveis como atraso psicomotor, fatores de risco pré-natais, perinatais, e pós-natais, empregando as provas qui-quadrado de Pearson, prova exata de Fisher. Se aceitou uma correlação significativa de p<.05. Resultados: o estrato social baixo mostrou relação significativa com o atraso psicomotor (p=.000); também a presença de infeções a uma idade muito precoce no recém-nascido, o historial de antecedente familiar e antecedente de doença na gravidez (p<.05). Conclusão: o status socioeconómico baixo, doenças associadas à gravidez como subnutrição, hipertensão arterial e acidentes traumáticos, para além das doenças infeciosas ao nascer, foram os principais fatores que condicionaram o atraso psicomotor.

Evaluación funcional del neurodesarrollo a los 24-30 meses de edad, de niños que requirieron terapias complejas durante el período neonatal / Functional assessment of neurodevelopment at 24-30 months of life of children requiring complex interventions in the neonatal period

El objetivo de este trabajo fue la evaluación funcional del neurodesarrollo de niños que requirieron terapias complejas neonatales entre los 24 y 30 meses de vida. Se incluyeron 104 pacientes evaluados en el Servicio de Clínicas Interdisciplinarias del Neurodesarrollo del Hospital de Pediatría Juan P. Garrahan, mediante pruebas estandarizadas; cuestionarios auto administrados y datos extraídos del interrogatorio, el examen físico y la historia clínica. A partir de los mismos los pacientes fueron agrupados según el grado de compromiso de su funcionalidad en dos grupos: el primero sin compromiso o compromiso leve y el segundo con compromiso moderado o severo. La evaluación funcional intenta desde una perspectiva biopsicosocial evaluar las habilidades, las dificultades y las características del entorno, que pueden ser tanto facilitadores como barreras para el desarrollo de la persona. De esta manera, permite un abordaje holístico del paciente y muestra como gran fortaleza frente a los diagnósticos categórico y etiológico, la adecuación de los sistemas de apoyos necesarios para cada paciente particular. En concordancia con la bibliografía sobre el riesgo biológico aumentado de esta población, el 44.2% de los niños de la muestra se encontraron dentro del grupo con compromiso funcional moderado/severo. En el análisis univariado las variables que presentaron asociación significativa con el grado de severidad del funcionamiento fueron la prematurez extrema, la displasia broncopulmonar, las lesiones en las ecografías cerebrales neonatales, internaciones neonatales prolongadas y los síndromes genéticos. Entre los factores medio-ambientales, se encontró asociación con progenitor solo y necesidad básicas insatisfechas (AU)

The aim of this study was the functional assessment of the neurodevelopment of children who require complex neonatal interventions between 24 and 30 months of life. Overall, 104 patients were evaluated at the Department of Interdisciplinary Clinics of Neurodevelopment at Hospital de Pediatría Juan P. Garrahan, with standardized tests, self-administered questionnaires and data gleaned from the interview, physical examination, and clinical records. Based on these data, the patients were divided into two groups according to the degree of functional involvement: a first group without or with mild functional compromise and a second group with moderate or severe compromise. From a biopsychosocial perspective, the purpose of functional assessment is the evaluation of skills, difficulties, and environmental characteristics that may be either facilitators or barriers to personal development. Thereby the assessment allows for a holistic approach of the patient and, unlike categorical and etiologic diagnosis, may lead to the adequate selection of the necessary support systems for each individual patient. In agreement with the literature on the increased biological risk in this population, 44.2% of the children in this sample were in the moderate/severe functional compromise group. In univariate analysis, the variables that were statistically significantly associated with degree of severity of function were extreme prematurity, bronchopulmonary dysplasia, lesion on neonatal ultrasonography, prolonged neonatal hospitalization, and genetic syndromes. Among environmental factors a significant association was found with a single parent and unsatisfied basic needs (AU)

Influência da cardiopatia congênita no desenvolvimento neuropsicomotor de lactentes / Influencia de la cardiopatía congénita en el desarrollo neuropsicomotor de los lactantes / Influence of congenital heart disease on the neuropsychomotor development of infants

RESUMO As cardiopatias congênitas (CC) estão entre as principais causas de morbimortalidade na primeira infância e os lactentes com essa condição podem apresentar atrasos no desenvolvimento neuropsicomotor (DNPM). O objetivo deste estudo foi avaliar a influência da CC no DNPM de lactentes. Trata-se de um estudo observacional com avaliação do desenvolvimento neuropsicomotor realizada pela Bayley Scales of Infant and Toddler Development (BSID-III). As condições maternas e clínicas dos lactentes foram verificadas no relatório de alta médica e na caderneta de saúde da criança, e a condição socioeconômica das famílias pelo Critério da Classificação Econômica Brasil. Para associar as variáveis clínicas e o DNPM foram utilizados o coeficiente de correlação de Spearman e o teste de razão de verossimilhança. Foram avaliados 18 lactentes, com predomínio do sexo feminino (72,2%). A maioria das mães (47,1%) possuía ensino médio completo ou superior incompleto, com média da idade de 27,2±5,5 anos. Houve correlação das escalas do BSID-III com as variáveis quantitativas analisadas: escala motora com o peso (p=0,02 e r=0,54) e com uso de oxigenoterapia (p=0,009 e r=−0,591); já para as variáveis qualitativas as associações foram entre: escala motora e condição socioeconômica (p=0,015), escala motora e comunicação interatrial - (CIA) (p=0,023) e escala da linguagem e CIA (p=0,038). A CC influenciou o DNPM, principalmente no aspecto motor. Além disso peso, diagnóstico de CIA, uso de oxigenoterapia e condição socioeconômica foram considerados como principais fatores de risco para o atraso no DNPM.

RESUMEN Las cardiopatías congénitas (CC) se encuentran entre las principales causas de morbimortalidad en la primera infancia, y los lactantes con esta afección pueden tener retrasos en el desarrollo neuropsicomotor (DNPM). El presente estudio tuvo el objetivo de evaluar la influencia de las CC en el DNPM de los lactantes. Este es un estudio observacional en el cual se evaluó el desarrollo neuropsicomotor utilizando la Bayley scales of infant and toddler development (BSID-III). Las condiciones maternas y clínicas de los lactantes se obtuvieron en el informe de alta médica y en la libreta de salud del niño, y el estado socioeconómico de las familias en el Criterio de Clasificación Económica de Brasil. Para asociar las variables clínicas y el DNPM, se utilizaron el coeficiente de correlación de Spearman y la prueba de razón de probabilidad. Se evaluaron a 18 lactantes, con un predominio del sexo femenino (72,2%). La mayoría de las madres (47,1%) tenían la secundaria completa o la educación superior incompleta, con una edad promedio de 27,2±5,5 años. Hubo una correlación entre las escalas BSID-III y las variables cuantitativas analizadas: escala motora con el peso (p=0,02 y r=0,54) y con el uso de oxigenoterapia (p=0,009 y r=−0,591); para las variables cualitativas, las asociaciones fueron entre: escala motora y estado socioeconómico (p=0,015), escala motora y comunicación interauricular (CIA) (p=0,023) y escala de lenguaje y CIA (p=0,038). Las CC influyeron en el DNPM, principalmente en el aspecto motor. Además, el peso, el diagnóstico de CIA, el uso de oxigenoterapia y el estado socioeconómico fueron considerados los principales factores de riesgo para el retraso en el DNPM.

ABSTRACT Congenital heart defects (CHD) are among the main causes of morbidity and mortality in infants who has this impairment may present delays in neuropsychomotor development (NPMD). This study assesses the influence of CHD on NPMD of infants. This is an observational study assessing neuropsychomotor development performed by Bayley Scales of Infant and Toddler Development - BSID-III. The Brazilian Economic Classification Criteria was used to verify the socioeconomic status of the families and also the maternal and infants' clinical conditions were verified in the medical discharge report and in the child's health handbook. For the association between the quantitative and qualitative variables with the NPMD, the Spearman's correlation coefficient and the likelihood ratio test were used. A total of 18 infants were assessed, with a predominance of females (72.2%). Most mothers (47.1%) had complete high school or incomplete higher education, with a mean age of 27.2±5.5 years. There was a correlation between the BSID-III scales and the quantitative variables analyzed: motor scale with weight (p=0.02 and r=0.54) and oxygen therapy (p=0.009 and r=−0.591); besides that, the qualitative variables correlation were: motor scale and socioeconomic condition (p=0.015), motor scale and Interatrial Communication - IAC (p=0.023) and language with IAC scales (p=0.038). CHD influences the delay of NPMD, mainly for motor aspect. Furthermore, weight, diagnosis of IAC, use of oxygen therapy and socioeconomic status were considered the main risk factors for the delay in NPMD.

Desarrollo psicomotor y cortisol salival en niños que viven juntos a sus madres privadas de libertad / Psychomotor development and cortisol salivary levels in infants that live with their inmate mothers

INTRODUCCIÓN: En Chile el sistema penitenciario cuenta con un programa que permite que las madres privadas de libertad vivan con sus hijos menores de 2 años. Esta modalidad podría implicar que los niños estén más expuestos a condiciones de estrés y a mayor riesgo de retraso en su desarrollo psicomotor (DSM). OBJETIVO: Comparar el DSM y la concentración de cortisol en saliva de los niños que viven en la cárcel junto a sus madres y comparar los resultados con los observados en niños que no están bajo este régimen. SUJETOS Y MÉTODO: Estudio transversal en 42 lactantes, 12 de ellos hijos de madres reclusas en el centro penitenciario de Santiago (CPF), y 30 controles provenientes de un Centro de Salud Familiar de Atención Primaria (CESFAM). Se evaluó DSM de los lactantes mediante la encuesta ASQ-3 y se realizó medición de cortisol salival mediante radioinmunoensayo a los lactantes y madres. RESULTADOS: La mediana de cortisol salival de los hijos de madres del CPF y CESFAM fue de 2,3 ng/ml (IQR 1,1 a 2,7) y de 2,1 ng/ml (IQR 1,6 a 2,9) respectivamente. El cortisol materno fue 4,6 ng/ml (IQR 3,8 a 7,3) en el CPF y 3,7 ng/ml (IQR 2,4 a 4,7) en el CESFAM. El déficit del DSM fue 2,3% y 28,5% para los niños del CPF y del CESFAM, respectivamente, sin diferencia estadística (p = 0,06). CONCLUSIONES: No hubo diferencia en el DSM y tampoco en el cortisol salival entre los niños de ambos grupos.

INTRODUCTION: In Chile, the prison system has a program that allows inmate mothers to live with their children un der two years of age. This could imply that these children are more exposed to stress conditions and a higher psychomotor developmental delay (PDD) risk. OBJECTIVE: To compare the PDD and salivary cortisol concentrations (SCC) of children living in prison with their mothers and to compare the results with control children. SUBJECTS AND METHOD: Cross-sectional study in 42 infants, 12 of them are children of inmate mothers in the penitentiary center (CPF) of Santiago, and 30 controls from a Primary Care Family Health Center (CESFAM). PDD of infants was assessed through the ASQ-3 questionnaire and salivary cortisol was measured in infants and mothers using radioimmunoassay. RESULTS: The median salivary cortisol level of the children of CPF and CESFAM mothers was 2.3 ng/ ml (IQR 1.1 to 2.7) and 2.1 ng/ml (IQR 1.6 to 2, 9) respectively. Maternal cortisol was 4.6 ng/ml (IQR 3.8 to 7.3) in the CPF and 3.7 ng/ml (IQR 2.4 to 4.7) in the CESFAM. The PDD deficit was 2.3% and 28.5% for children from the CPF and the CESFAM respectively, without statistical difference (p = 0.06). CONCLUSIONS: There was no difference in the PDD and salivary cortisol between children of both groups.

Síndrome de Blue Rubber Bled Nevus. Presentación de un caso / Syndrome of Blue Rubber Bled Nevus. Case presentation

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso.

ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.

Efecto de la intervención psicomotriz con participación del cuidador sobre la comunicación gestual de una niña con autismo / Effect of psychomotor intervention with the participation of a caretaker on the gesture communication of a child with autism

Se presenta el caso de una niña de 3 años, con trastorno del espectro autista que mostraba dificultades para relacionarse e integrar los gestos faciales y corporales a su lenguaje verbal; además, se mostraba inflexible a los cambios posturales y presentaba fuerte apego a objetos inanimados. Se brindó una nueva herramienta de intervención en base al movimiento y el afecto a través de las relaciones primarias. El objetivo fue facilitar el gesto motor, de manera que se lograse una comunicación gestual integrada a la verbal y se favoreciese la conexión espontánea de la niña con su cuidador y el entorno. (AU)

We present the case of a 3-year-old girl with autism that showed difficulties to stablish relationships and to integrate facial and body gestures to her verbal language. In addition, she showed inflexibility to postural changes and strong bond to inanimate objects. A new intervention tool was offered based on providing affection and movement through primary relationships. The objective was to facilitate motor gesture to achieve gesture communication integrated to verbal language favoring spontaneous connection of the girl with her caretaker and with her surroundings. (AU)

Child dietary intake of folate and vitamin B12 and their neurodevelopment at 24 and 30 months of age / Ingesta de folato y vitamina B12 en la dieta del niño y su neurodesarrollo a los 24 y 30 meses de edad

Abstract Objective To evaluate whether child dietary intake of folate and vitamin B12, is associated with mental and psychomotor development in Mexican children, respectively, at 24 and 30 months of age. Materials and methods Information about neurodevelopment and dietary intake of folate and vitamin B12 at 24 and 30 months of age among 229 children belonging to a perinatal cohort was analyzed longitudinally. Dietary information was assessed using a semi-quantitative food frequency questionnaire, and neurodevelopment by Bayley Scale of Infant Development II. Results At 30 months of age, dietary folate intake was marginally associated with increased Mental Development Index (MDI) (β=8.33; 95%CI -0.48, 17.14; p=0.06). Non-significant positive associations of vitamin B12 with MDI were found. Psychomotor Development Index (PDI) was not associated with these nutrients. Conclusion Dietary folate intake in early childhood may benefit the mental development of children.

Resumen Objetivo Evaluar si la ingesta dietética infantil de folato y vitamina B12 se asocia con el desarrollo mental y psicomotor en niños mexicanos de 24 y 30 meses de edad. Material y métodos La información del neurodesarrollo y la ingesta dietética de folato y B12 a los 24 y 30 meses de edad de 229 niños pertenecientes a una cohorte perinantal, se analizó longitudinalmente. La información dietética se obtuvo por un cuestionario de frecuencia de alimentos semicuantitativo y el neurodesarrollo mediante la Escala de Desarrollo Infantil de Bayley II. Resultados A los 30 meses de edad, la ingesta dietética de folato se asoció marginalmente con un incremento del Índice de Desarrollo Infantil (IDM) (β=8.33; IC95% -0.48, 17.14; p=0.06). Se observaron asociaciones positivas no significativas entre la B12 y el IDM. El Índice de Desarrollo Psicomotor (IDP) no se asoció con dichos nutrientes. Conclusión La ingesta dietética infantil de folato puede beneficiar el desarrollo mental.

Influence of growth hormone replacement on neurological and psychomotor development. Case report / Influência da reposição do hormônio do crescimento no desenvolvimento neuropsicomotor. Relato de caso

ABSTRACT The height response to the use of growth hormone in short height cases has already been confirmed in the literature. The influence of the insulin-like growth factor 1 (GH-IGF1) axis components on development, function, regeneration, neuroprotection, cognition, and motor functions has been evaluated in experimental studies and in adults with central nervous system lesions. However, there is still little research on the clinical impact of hormone replacement on neurological and psychomotor development. This report presents the case of a patient with excellent weight-height recovery and, even more surprisingly, neurological and psychomotor development in response to use of growth hormone. The result strengthens the correlation between experimental and clinical findings related to cerebral plasticity response to growth hormone in children. A preterm male patient with multiple health problems during the neonatal and young infancy period, who for six years presented with a relevant deficit in growth, bone maturation, and neurological and psychomotor development. At six years of age, he had low stature (z-score −6.89), low growth rate, and low weight (z-score −7.91). He was incapable of sustaining his axial weight, had not developed fine motor skills or sphincter control, and presented with dysfunctional swallowing and language. Supplementary tests showed low IGF-11 levels, with no changes on the image of the hypothalamus-pituitary region, and bone age consistent with three-year-old children — for a chronological age of six years and one month. Growth hormone replacement therapy had a strong impact on the weight-height recovery as well as on the neurological and psychomotor development of this child.

RESUMO A resposta estatural ao uso de hormônio do crescimento na baixa estatura já está comprovada na literatura. A influência dos componentes do eixo fator de crescimento semelhante à insulina tipo 1 (GH-IGF1) sobre desenvolvimento, função, regeneração, neuroproteção, cognição e funções motoras tem sido avaliada em estudos experimentais e em adultos com lesão de sistema nervoso central. No entanto, ainda são poucas as pesquisas sobre o impacto clínico da reposição hormonal no desenvolvimento neuropsicomotor. Este relato apresenta o caso de um paciente com excelente recuperação pôndero-estatural e, de forma ainda mais surpreendente, de desenvolvimento neuropsicomotor, em resposta ao uso de hormônio do crescimento. O resultado observado fortalece a correlação entre achados experimentais e clínicos, no que diz respeito à resposta da plasticidade cerebral ao hormônio do crescimento em crianças. Paciente do sexo masculino nasceu pré-termo com múltiplos agravos no período neonatal e de lactente jovem, e que, por 6 anos, apresentou deficit relevante do crescimento, na maturação óssea e do desenvolvimento neuropsicomotor. Aos 6 anos de idade, apresentava baixa estatura (escore Z de −6,89), baixa velocidade de crescimento e baixo peso (escore Z de −7,91). Era incapaz de sustentar o peso axial, não tinha desenvolvido habilidade motora fina e nem controle esfincteriano, e apresentava também disfunção na deglutição e na linguagem. Exames complementares mostraram IGF1 baixo, sem alterações na imagem da região hipotálamo-hipofisária e idade óssea compatível com 3 anos — para a idade cronológica de 6 anos e 1 mês. A terapia de reposição com hormônio do crescimento promoveu forte impacto na recuperação pôndero-estatural e também do desenvolvimento neuropsicomotor desta criança.

The general movement assessment in non-European low- and middle-income countries

ABSTRACT Abnormal general movements are among the most reliable markers for cerebral palsy. General movements are part of the spontaneous motor repertoire and are present from early fetal life until the end of the first half year after term. In addition to its high sensitivity (98%) and specificity (91%), the assessment of general movements is non-invasive and time- and cost-efficient. It is therefore ideal for assessing the integrity of the young nervous system, most notably in lowresource settings. Studies on the general movements assessment in low- and middle-income countries such as China, India, Iran, or South Africa are still rare but increasing. In Brazil, too, researchers have demonstrated that the evaluation of general movements adds to the functional assessment of the young nervous system. Applying general movements assessment in vulnerable populations in Brazil is therefore highly recommended.

Psychomotor retardation with neutropenia for more than one year in a toddler / 中国当代儿科杂志

A boy was admitted at the age of 17 months. He had psychomotor retardation in early infancy. Physical examination revealed microcephalus, unusual facies, and a single palmar crease on his right hand, as well as muscle hypotonia in the extremities and hyperextension of the bilateral shoulder and hip joints. Genetic detection identified two pathogenic compound heterozygous mutations, c.8868-1G>A (splicing) and c.11624_11625del (p.V3875Afs*10), in the VPS13B gene, and thus the boy was diagnosed with Cohen syndrome. Cohen syndrome is a rare autosomal recessive disorder caused by the VPS13B gene mutations and has complex clinical manifestations. Its clinical features include microcephalus, unusual facies, neutropenia, and joint hyperextension. VPS13B gene detection helps to make a confirmed diagnosis.

Implicaciones de la desnutrición en el desarrollo psicomotor de los menores de cinco años / Implications of malnutrition in the psychomotor development of children under five years

Aim: To describe psychomotor development of children with chronic malnutrition attending a nutritional recovery clinic in Medellin, Colombia. Methodology: descriptive, cross-sectional study. The sample consisted of 60 children under 5 years of age with malnourishment according to height/age index. Informed consent was signed. Risk of delayed psychomotor development was evaluated using the Abbreviated Scale of Development. Univariate analysis was performed to characterize the population. In bivariate analysis Chi2 and Fisher exact test were used to test the relationship between categorical and outcome variables. We used a 95% confidence level and p<0.05 represented statistical significance. Results: The main finding was no association between the degrees of chronic malnutrition with the risk of delayed psychomotor development, however the prevalence of risk of delay was 38.3%, which is clinically relevant. Conclusion: An optimal nutritional status determines the psychomotor development of children, as it has positive neurophysiological effects.

Objetivo: Describir el nivel de desarrollo psicomotriz de niños con desnutrición crónica, que asisten a recuperación nutricional, en Medellín, Colombia. Metodología: Estudio descriptivo, transversal. La muestra fue de 60 niños menores de 5 años con desnutrición según el índice talla/edad, se firmó consentimiento informado. Se evaluó riesgo de retraso en el desarrollo psicomotriz, utilizando la Escala Abreviada del Desarrollo. Se realizó análisis univariado para caracterizar la población. En el análisis bivariado se utilizaron pruebas Chi² y Test Exacto de Fisher relacionando algunas variables categóricas y de resultado. Se utilizó un nivel de confianza 95% y p<0,05. Resultados: Se observó una nula asociación entre el grado de desnutrición crónica con el riesgo del retraso en el desarrollo psicomotriz, sin embargo la prevalencia del riesgo de retraso del 38,3% cobra relevancia desde la clínica. Conclusión: Un óptimo estado nutricional determina el desarrollo psicomotriz de los niños, dado que tiene efectos neurofisiológicos positivos.

Factors associated with the severity of motor impairment in children with cerebral palsy seen in Enugu, Nigeria

Background. Cerebral palsy (CP) is a heterogeneous condition that is well known to cause impairments with varying degrees of severity. The gross motor function classification system (GMFCS) is widely used to assess ambulatory function in CP, but little is known about the factors that account for the variations in gross motor function in children. The purpose of this study was to assess the relation between the severity of gross motor dysfunction (GMD) and certain factors such as the type of CP, aetiology of CP, nutrition, socioeconomic class (SEC), and the frequency of these accompanying impairments like visual, auditory, cognitive and speech impairments.Methods. This was a cross-sectional observational study of 100 consecutively recruited CP patients aged 9 - 96 months, who attended the paediatric neurology clinics (PNCs) in Enugu between April and October 2010. Each patient's clinical history was recorded, a neurological examination conducted and GMFCS level ascertained. Statistical analyses were done to determine the association between the categorical variables.Results. The type of CP (p=0.000), aetiological factors (p=0.016), the presence of malnutrition (p=0.004) and the frequency of accompanying impairments (p=0.001) were significantly associated with the severity of GMD, while SEC (p=0.649) had no significant association.Conclusion. The type of CP, aetiological factors, the presence of malnutrition and the number of accompanying physical, mental or physiological impairments, were positively associated with the severity of GMD and walking ability in children with CP

The effect of triazolam premedication on anxiety, sedation, and amnesia in general anesthesia / 대한마취과학회지

BACKGROUND: Benzodiazepines have been used preoperatively as part of an anesthesia regimen to attenuate the anxiety of patients. In this study, we aimed to examine the effect of oral triazolam, a short-acting benzodiazepine, on anxiety, sedation, and amnesia. METHODS: Ninety patients, aged 20–55 years, were randomly assigned to receive no premedication, or to receive triazolam 0.25 mg or 0.375 mg 1 h before anesthesia. Anxiety score, sedation score, blood pressure, heart rate and psychomotor performance were measured on the evening before surgery and on the day of surgery. Additional tests of psychomotor performance were performed in the postanesthesia care unit and on the next day of surgery. The occurrence of amnesia, bispectral index (BIS), recovery profiles and patient satisfaction with overall anesthesia care were also evaluated. RESULTS: Changes in the anxiety and sedation scores on the day of surgery were not significantly different among groups, whereas the increases in systolic blood pressure and heart rate were significantly less in both triazolam groups. The triazolam groups both showed a higher incidence of high satisfaction scores (≥ 2). The two triazolam groups also showed similar outcomes, except for a dose-dependent increase in the number of patients with amnesia and BIS values < 90. Delayed recovery from general anesthesia and psychomotor impairment were not observed in the triazolam groups. CONCLUSIONS: Triazolam 0.25 mg or 0.375 mg reduced the hemodynamic changes associated with anxiety, produced potent amnesia, and improved patient satisfaction. We suggest that triazolam can be used effectively as anesthetic premedication in adults.

Intermittent convulsions for 1.5 years and psychomotor retardation in a girl / 中国当代儿科杂志

The study reports a girl with pyridoxine-dependent epilepsy. The girl was admitted at the age of 2 years because of intermittent convulsions for 1.5 years and psychomotor retardation. She had a history of "hypoxia" in the neonatal period. At the age of 5 months recurrent epileptic seizures occurred. The child was resistant to antiepileptic drugs, and had many more seizures when she got cold or fever. She also had a lot of convulsive status epilepticus. No discharges were found during several video-EEG monitorings. Cerebral MRI examinations showed normal results. So Dravet syndrome was clinically suspected. ALDH7N1 gene mutation analysis revealed two heterozygote mutations, and pyridoxine-dependent epilepsy was thus confirmed. Seizures were generally controlled after pyridoxine supplementation.

Analysis of psychomotor development and level of physical activity of children with extracurricular physical activities / Análise do desenvolvimento psicomotor e nível de atividade física de crianças em atividades físicas extracurriculares

Objective: The objective was to evaluate the psychomotor development in the areas of global motor skills, balance and body structure and level of school extracurricular physical activity. Method: The sample consisted of 30 individuals of both sexes from 6 to 10 years old, divided into two groups: Active Extracurricular Group and Sedentary Extracurricular Group. Data collection included the characterization of the subjects, anthropometric data, and the tests Development Scale Motor and the IPAQ short version. The variables were expressed as frequencies and proportions, the normality was tested with the Shapiro-Wilk test. Student t test was used to determine the statistical significance of normal data and Mann Whitney test for the non-normal data. Statistical significance was set at p <0.05. Results: The classification of BMI / age of both groups was eutrophic (53.3%) and the remainder (46.6%) were overweight. The sedentary group had better results in overall motor development, and the active group in balance and body scheme. Conclusion: The children who engage in extracurricular physical activity showed better development in balance and body structure, when compared to those that do not

Neurodesarrollo en el hipotiroidismo congénito y sus particularidades electroencefalográficas / Neurodevelopment in congenital hypothyroidism and its electroencephalographic particularities

El hipotiroidismo congénito (HC) es consecuencia de un déficit de la hormona tiroidea (HT) por alteración de la tiroides (hipotiroidismo primario), o por causas hipofisarias (hipotiroidismo secundario), o hipotalámicas (hipo-tiroidismo terciario). La hormona tiroidea a nivel tisular, interviene en la maduración y diferenciación funcional de varios órganos, como el sistema nervioso central (SNC) en desarrollo, en el que un aporte insuficiente de HT en tiempo y lugar, resulta en anomalías permanen-tes, antecedente que destaca el déficit intelectual irreversible. En la población mundial se ha estimado una frecuencia de 1:300 a 1:4 000 recién nacidos. El trata-miento es la suplementación oral con tiroxina. OBJETIVO: Describir el neurodesarrollo en el hipotiroidis-mo congénito y sus particularidades electroencefalográficas. MATERIALES Y MÉTODO: Estudio observacional, descriptivo y transversal, en niños preescolares con diagnóstico de HC, a quienes se les aplicó la escala de Denver II, una evaluación neurológica integral y un electroence-falograma digital.RESULTADOS: Se evaluaron 12 pacientes, 7 (58%) de sexo femenino y 5 (42%) de sexo masculino. Todos los pacientes fueron evaluados por medio de la escala de Denver II, 4 (33%) resultaron con retraso en su desarrollo psicomotor, de predominio en el área del lenguaje. En relación a la valoración neuropediátrica se encontró que 5 pacientes presentaron manifestaciones neurológicas y al realizar el electroencefalograma digital 7 (59%) presentaron alteraciones electroencefalográficas, 5 (71%) registraron inmadurez y 2 (29%c) disfunción. CONCLUSIONES: Luego del análisis realizado a lo largo de esta investigación, se realizan las siguientes conclu-siones:Los resultados del presente estudio muestran un patrón heterogéneo, sin embargo orientan a la posible aso-ciación entre las manifestaciones clínica y los hallazgos electroencefalográficos. Los pacientes con hipotiroidismo congénito presentan afección en el área del lenguaje determinado por me-dio de la aplicación de la escala de Denver II.Las manifestaciones clínicas anormales son principal-mente en el área verbal, pero también se presentan como manifestaciones sutiles o inespecíficas como inatención, irritabilidad y alteraciones de conducta.

Congenital hypothyroidism (CH) is a result of a deficien-cy of thyroid hormone (TH) by altering thyroid (primary hypothyroidism), or pituitary causes (secondary hypo-thyroidism) or hypothalamic (tertiary hypothyroidism). Thyroid hormone at the tissue level, is involved in the maturation and functional differentiation of various or-gans such as the development of the central nervous system (CNS), in which an insufficient supply of HT in time and place, resulting in permanent abnormalities, history highlighting the irreversible intellectual deficit. In the world's population it has been estimated a frequency of 1: 300 to 1: 4000 newborns. The treatment is oral su-pplementation with thyroxin. OBJECTIVE: To describe the neurodevelopmental con-genital hypothyroidism and electroencephalographic characteristics. MATERIALS AND METHOD: It is an observational, des-criptive and cross-sectional study in preschool children diagnosed with HC, who were administered the Denver II scale, a comprehensive neurological evaluation and a digital electroencephalogram.RESULTS: A total of 12 patients, 7 (58%) female and 5 (42%) males were evaluated. All patients were evalua-ted by the scale of Denver II, 4 (33%) were delayed in their psychomotor development, predominantly in the language area. Regarding the neuro-pediatric assess-ment was found that 5 patients had neurological mani-festations and perform digital electroencephalogram 7 (59%) had electroencephalographic changes, 5 (71%) showed immaturity and 2 (29%) dysfunction. CONCLUSIONS: Afer the analysis made throughout this investigation, the conclusions are:The results of this study show a heterogeneous pattern, however target the possible association between clini-cal manifestations and electroencephalographic fin-dings.Patients with congenital hypothyroidism present a con-dition in the area of language which was determined by applying the scale Denver II.The abnormal clinical manifestations are mainly in the verbal area, but they are also presented as subtle ma-nifestations or unspecific as inattention, irritability and behavioral disorders.