Prevalence, Clinical Characteristics, and Management of Neurocutaneous Syndromes in Children
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 100
- 主要终点
- Prevalence of Neurocutaneous Syndromes Among Pediatric Neurology Patients
研究概览
简要总结
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.
详细描述
Neurocutaneous syndromes are congenital multisystem disorders that mainly affect the skin, nervous system, and other organs. This observational study will include children from birth to 18 years diagnosed with neurocutaneous syndromes according to established clinical and/or genetic diagnostic criteria.
Data will be collected on demographic characteristics, clinical manifestations, laboratory and radiological findings, and current management practices.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age from birth to 18 years
- •Diagnosis of neurocutaneous syndrome according to established clinical and/or genetic diagnostic criteria
- •Written informed consent from parents or legal guardians
排除标准
- •Uncertain diagnosis
- •Incomplete medical records
- •Refusal of parents or legal guardians to participate
研究组 & 干预措施
Single cohort: Children with neurocutaneous syndromes
Children from birth to 18 years diagnosed with neurocutaneous syndromes who will undergo clinical, laboratory, radiological, and management assessment.
结局指标
主要结局
Prevalence of Neurocutaneous Syndromes Among Pediatric Neurology Patients
时间窗: Baseline
Proportion of children diagnosed with neurocutaneous syndromes among all patients attending the Pediatric Neurology Unit during the study period. Prevalence calculated as number of NCS cases divided by total number of pediatric neurology attendees during the same period.
Distribution of Neurofibromatosis Type 1
时间窗: Baseline
Frequency and percentage of Neurofibromatosis type 1 among diagnosed neurocutaneous syndrome cases.
Distribution of Neurofibromatosis Type 2
时间窗: Baseline
Frequency and percentage of Neurofibromatosis type 2 among diagnosed neurocutaneous syndrome cases.
Distribution of Tuberous Sclerosis Complex
时间窗: Baseline
Frequency and percentage of Tuberous Sclerosis Complex among diagnosed neurocutaneous syndrome cases.
Distribution of Sturge-Weber Syndrome
时间窗: Baseline
Frequency and percentage of Sturge-Weber syndrome among diagnosed neurocutaneous syndrome cases.
Distribution of Von Hippel-Lindau Disease
时间窗: Baseline
Frequency and percentage of Von Hippel-Lindau disease among diagnosed neurocutaneous syndrome cases.
Distribution of Incontinentia Pigmenti
时间窗: Baseline
Frequency and percentage of Incontinentia Pigmenti among diagnosed neurocutaneous syndrome cases.
Distribution of Hypomelanosis of Ito
时间窗: Baseline
Frequency and percentage of Hypomelanosis of Ito among diagnosed neurocutaneous syndrome cases.
次要结局
- Cutaneous Manifestations(Baseline)
- Epilepsy(Baseline)
- Developmental Delay(Baseline)
- Intellectual Disability(Baseline)
- CNS Tumors(Baseline)
- Ophthalmological Manifestations(Baseline)
- Cardiovascular Manifestations(Baseline)
- Renal Manifestations(Baseline)
- Musculoskeletal Manifestations(Baseline)
- Management Patterns - Antiepileptic Medications(Baseline)
- Management Patterns - mTOR Inhibitors(Baseline)
- Management Patterns - Surgical Interventions(Baseline)
- Management Patterns - Laser Therapy(Baseline)
- Management Patterns - Physiotherapy(Baseline)
- Management Patterns - Occupational Therapy(Baseline)
- Management Patterns - Speech Therapy(Baseline)
- Management Patterns - Multidisciplinary Follow-Up(Baseline)
研究者
Eman mahmoud zaghloul
Resident Physician
Assiut University