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临床试验/NCT06183996
NCT06183996尚未招募不适用

Patterns Of Floppy Infants Attending Assiut University Children Hospital

Assiut University0 个研究点目标入组 50 人开始时间: 2024年1月1日最近更新:
适应症

试验速览

阶段
不适用
状态
尚未招募
入组人数
50
主要终点
Patterns Of Floppy Infants Attending Assiut University Children's Hospital

研究概览

简要总结

The Floppy Infant includes a variety of signs and symptoms: hypotonia, weakness and ligamentous laxity and increased range of joint mobility. Based on clinical criteria hypotonia can be classified in two major groups: central and peripheral hypotonia .The primary objective of the diagnosis is to enable an early identification of the problem to start an effective supportive therapy. Also allows formulating a more accurate prognosis. Last, the identification of forms of neonatal hypotonia with familial transmission is crucial for genetic counseling for future pregnancies.etiology in hypotonic infants is necessary for prognosis prediction and treatment. History taking and physical examination should be supported by the laboratory tests and neuroimaging methods. However, diversity may require a genetic diagnosis.

详细描述

The Floppy Infant includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility. Based on clinical criteria hypotonia can be classified in two major groups: central hypotonia and peripheral hypotonia .

Hypotonia is defined as poor muscle tone in the muscles of the trunk, limbs and face. This means that the muscles provide little resistance when someone else is passively moving them. Hypotonia can be categorized as axial or truncal ,predominantly affecting the neck and spinal muscles; appendicular, affecting predominantly the extremities; or global, affecting the entire body. It is identified early in life when the newborn is unable to obtain a normal posture during movements or at rest.

Regardless of whether the underlying cause of hypotonia is peripheral or central in origin, the presentation of floppy infant syndrome focuses on observing for the presence or absence of specific signs such as 'frog-leg' posture, significant head lag on traction or pull-to-sit maneuver, or the feeling of 'slipping through the hands' when the infant is held under the arms.

The primary objective of the diagnosis is to enable, where possible, an early identification of the problem to start an effective supportive therapy. A precise etiological diagnosis also allows formulating a more accurate prognosis. Last but not least, the identification of forms of neonatal hypotonia with familial transmission is crucial for the formulation of a genetic counseling for future pregnancies.

Inspite of the advances in laboratory diagnosis and imaging, multidisciplinary evaluation by different specialties including genetics, metabolics , pediatric neurology and pediatric neuroradiology is mandatory .

研究设计

研究类型
Observational
观察模型
Other
时间视角
Prospective

入排标准

年龄范围
— 至 12 Months(Child)
性别
All
接受健康志愿者

入选标准

  • Infants presented by generalized hypotonia and hyporeflexia

排除标准

  • Infants with global developmental delay & Central causes of hypotonia

结局指标

主要结局

Patterns Of Floppy Infants Attending Assiut University Children's Hospital

时间窗: 2 years

Evaluate the percentage of floppy infants with peripheral causes in relation to the whole cases of floppy infants attending Assiut university children hospital

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Christina Sameh Youssef Ghaly

Assistant Lecturer

Assiut University

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