Discapacidades del desarrollo

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  • 文章类型: Journal Article
    Child development is a complex biological, psychological, and emotional process. Timely screening for developmental delay allows early interventions. Therefore, this study sought to assess the frequency and characteristics of developmental delay in children < 5 years of age who attended the Pediatric Rehabilitation Service of a referral hospital in Peru.
    We conducted a cross-sectional study. Information was collected from medical records of children < 5 years of age who attended between April and September 2022 at the Rebagliati Hospital\'s Pediatric Rehabilitation Service. The REBA-PED Child Developmental Assessment Profile was used for the developmental assessment, which allows to identify the degree of delay in each area (gross motor, fine motor, hearing and language, intelligence and learning, and personal-social) and the presence of warning signs.
    Of 226 children who attended the service, 49.1% were between 3 and 5 years old, 57.1% were female, only 3.1% were referred for suspected developmental delay, and none had had a previous developmental assessment. Among the children evaluated, 12.4% had a simple developmental delay, 19.5% had a significant developmental delay, and 53.5% had a global developmental delay. In addition, 70.8% presented a warning sign of developmental delay. Hearing and language (86.8%) and intelligence and learning (83.5%) areas had a higher frequency of significant developmental delay.
    We found a high frequency of developmental delay in the children assessed, predominantly in hearing and language. Although all the children were referred, none had had a previous developmental assessment.
    El desarrollo infantil es un proceso complejo de cambios biológicos, psicológicos y emocionales. El despistaje oportuno del retraso del desarrollo permite implementar intervenciones tempranas. Este estudio buscó evaluar la frecuencia y las características del retraso del desarrollo en niños < 5 años atendidos en el Servicio de Rehabilitación Pediátrica de un hospital de referencia de Perú.
    Se llevó a cabo un estudio transversal en el que se recolectó información de niños < 5 años atendidos entre abril y septiembre del 2022 en el Servicio de Rehabilitación Pediátrica del Hospital Rebagliati, para lo cual se revisaron sus historias clínicas. Para la evaluación del desarrollo, se utilizó el Perfil de Evaluación del Desarrollo Infantil REBA-PED, que permite reconocer el grado de retraso por área (motora gruesa, motora fina, audición y lenguaje, inteligencia y aprendizaje, y personal social) y los signos de alarma.
    De 226 niños atendidos, el 49.1% tenía entre 3 a 5 años, el 57.1% era de sexo femenino, solo el 3.1% fue remitido por sospecha de retraso del desarrollo y ninguno había tenido una evaluación previa del desarrollo infantil. Entre los niños evaluados, el 12.4% presentó un retraso simple del desarrollo, el 19.5% presentó un retraso significativo y el 53.5%, un retraso global. Además, el 70.8% presentó algún signo de alarma durante el desarrollo infantil. La frecuencia de retraso significativo fue mayor en las áreas de audición y lenguaje (86.8%) y de inteligencia y aprendizaje (83.5%) tuvieron mayor frecuencia de retraso significativo.
    Se encontró una frecuencia elevada de retraso del desarrollo entre los niños evaluados, con predominio del área de audición y lenguaje. Si bien todos los niños fueron referidos, ninguno había tenido una evaluación previa del desarrollo.
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  • 文章类型: Case Reports
    大多数持续性原发性玻璃体增生(PHPV)的病例是单侧和偶发性的,然而,双侧表现可能存在于少数患者中,必须排除其他遗传疾病。我们描述了一例2个月的儿童,双侧持续性原发性玻璃体增生,经超声证实。此外,神经发育缺陷,小头畸形,面部二象性,轴向低张力,核磁共振没有大脑异常,在遗传研究中发现了CTNNB1基因的从头突变,这解释了这些发现。
    The most cases of persistence hyperplastic primary vitreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vitreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.
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  • 文章类型: Case Reports
    大多数持续性增生性原发性vítreous(PHPV)病例是单侧和零星的,然而,双侧表现可能存在于少数患者中,必须排除其他遗传疾病。我们描述了一例2个月的儿童,经超声证实双侧持续性原发性增生。此外,神经发育缺陷,小头畸形,面部二象性,轴向低张力,核磁共振没有大脑异常,在遗传研究中发现了CTNNB1基因的从头突变,这解释了这些发现。
    The most cases of persistence hyperplastic primary vítreous (PHPV) are unilateral and sporadic, however, bilateral presentation could be present in a small number of patients, in whom other genetic diseases must be ruled out. We describe a case of a 2 months child with bilateral persistence hyperplastic primary vítreous confirmed by ultrasound. In addition, with neurodevelopmental defects, microcephaly, facial dimorphism, axial hypotonia, and without brain abnormalities on MRI, in whom a de novo mutation of the CTNNB1 gene was found during the genetic study, which explains the findings.
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  • 文章类型: Journal Article
    背景:随着脑瘫患者的预期寿命增加,这导致能够评估他们健康的生物-心理-社会层面的变化。
    目的:本研究的目的是描述脑瘫患者的特征并评估其功能状况。
    方法:对26名27至65岁脑瘫患者进行横断面描述性研究。数据是在半结构化访谈中收集的。交叉运动功能分类系统(GMFCS),手动能力分类系统(MACS),和通信功能分类系统(CFCS),用于评估功能情况。
    结果:在布尔戈斯脑瘫协会中看到的成年人的概况,西班牙,是男性,40多岁,单身,文盲,没有专业资格,住在一个住宅里,获得社会福利,并且有很大的功能残疾。
    结论:成人护理中心的脑瘫患者的功能能力较低。它强调文化水平低,缺乏专业资格,所有这些人都有残疾,限制了他们进行日常活动的能力,可能与高平均年龄有关。
    BACKGROUND: As the life expectancy has increased in individuals with cerebral palsy, this has led to being able to assess the changes in the bio-psycho-social dimensions of their health.
    OBJECTIVE: The aim of the study is to describe the characteristics of individuals with cerebral palsy and to evaluate their functional situation.
    METHODS: Cross-sectional descriptive study conducted on a sample of 26 individuals between 27 and 65 years old with cerebral palsy. Data was collected during a semi-structured interview. The Cross Motor Function Classification System (GMFCS), the Manual Ability Classification System (MACS), and the Communication Function Classification System (CFCS), were used to evaluate the functional situation.
    RESULTS: The profile of the adult seen in the Cerebral Palsy Association of Burgos, Spain, is male, over 40 years old, single, illiterate, with no professional qualification, lives in a residence, receives social benefit, and with great functional disability.
    CONCLUSIONS: The functional capacity of people with cerebral palsy who are in adult care centres is low. It emphasises the low cultural level and the lack of professional qualification and all of them have a disability that limits their ability to perform daily activities, possibly related to the high mean age.
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  • 文章类型: Comparative Study
    背景:幼儿严重营养不良可能导致长期并发症,特别是与健康相关生活质量(HRQOL)相关的学习和心理社会障碍。这项研究的目的是评估2岁前有严重营养不良史的儿童的HRQOL,期望在这些患者中找到较低的分数。
    方法:对5至12岁有早期严重营养不良史的学童进行了比较研究,不包括那些患有慢性病的人。对照是患者的健康兄弟姐妹。样本大小估计为每组26名受试者(总计=52)。记录社会人口统计学变量,并使用PedsQL4.0评估HRQOL。采用卡方检验和学生t检验。显著性水平:P<0.05。
    结果:共研究了25名患者和28名对照。从PedsQL获得的有营养不良史儿童的HRQOL评分,与他们健康的兄弟姐妹相比,总计:80.82±1.94vs89.18±1.84P<.0001),身体健康/尺寸:87.75±3.37vs94.75±1.87(P<0.0001),社会心理健康:77.77±2.90vs86.57±1.42(P<0.0001),情感维度:67.80±4.40vs78.75±2.96(P<0.0001),社会维度:88.80±3.05vs95.71±1.52(P<0.0001),学校维度:74.58±3.80vs85.00±3.51(P<0.0001)。
    结论:有早期严重营养不良史的患者,与对照组相比,HRQOL得分显着降低。
    BACKGROUND: Severe malnutrition in young children may lead to long-term complications, in particular learning and psychosocial disorders linked to health related quality of life (HRQOL). The aim of this study was to evaluate HRQOL in children whit a history of severe malnutrition before 2 years of life, expecting to find lower scores in these patients.
    METHODS: A comparative study was performed on schoolchildren between 5 and 12 years with a history of early severe malnutrition, excluding those with chronic diseases. The Controls were healthy siblings of patients. The sample size was estimated as 26 subjects per group (Total=52). Sociodemographic variables were recorded and the HRQOL was assessed with PedsQL4.0. Chi square and Student t test were applied. Significance level: P<.05.
    RESULTS: A total of 25 patients and 28 controls were studied. The HRQOL scores obtained from PedsQL for children with history of malnutrition, compared with their healthy siblings, were: Total: 80.82±1.94 vs 89.18±1.84 P<.0001), physical health/dimension: 87.75±3.37 vs 94.75±1.87 (P<.0001), psychosocial health: 77.77±2.90 vs 86.57±1.42 (P<.0001), emotional dimension: 67.80±4.40 vs 78.75±2.96 (P<.0001), social dimension: 88.80±3.05 vs 95.71±1.52 (P<.0001), and school dimension: 74.58±3.80 vs 85.00±3.51 (P<.0001).
    CONCLUSIONS: Patients with a history of early severe malnutrition, showed significantly lower HRQOL scores compared with controls.
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