Clinical Research Directory

Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders

This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program. The program is designed for children with neurodevelopmental disorders, including but not limited to cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy (HIE), and chromosomal or genetic abnormalities. Participants receive individualized therapy sessions for approximately 2.5 hours per day over a two week period. The intervention is not standardized but is tailored to each child's specific needs and may include components such as sensory integration, motor planning, reflex integration, oculomotor training, executive functioning activities, communication support, and other brain based therapeutic approaches. The purpose of this study is to observe changes in functional abilities, including attention, motor coordination, emotional regulation, communication, and activities of daily living. Outcomes are assessed using clinician observation and parent reported changes before and after the intensive program, with limited follow-up when available. This study does not assign participants to a specific treatment as part of a research protocol. Instead, it collects real world data from children already participating in a clinical therapy program to better understand potential benefits of intensive, individualized neurorehabilitation approaches.

Chromosomal Abnormalities in Patients With Congenital Heart Disease at Assiut University Children's Hospital

Congenital heart disease (CHD) is one of the most common birth defects and an important cause of infant morbidity and mortality. Many children with CHD also have underlying genetic abnormalities, particularly chromosomal abnormalities, which may affect their prognosis, management, and counseling. This study aims to determine the incidence and pattern of chromosomal abnormalities among children with CHD attending Assiut University Children's Hospital and Elmabara Insurance Hospital. Children with a confirmed diagnosis of CHD will undergo a detailed clinical assessment, including dysmorphic evaluation, followed by chromosomal analysis (karyotyping). The study will help identify the frequency and type of chromosomal abnormalities associated with CHD and their correlation with specific cardiac defects and phenotypic features. Understanding these genetic associations may improve diagnosis, early intervention, and family counseling, and provide useful information for risk stratification and prevention strategies in the Egyptian population.

Prevalence of Translocation Phenotyping in Children With Down Syndrome and Their Parents

This research study will investigate a special type of Down syndrome called translocation Down syndrome. While most children with Down syndrome have an extra copy of chromosome 21, about 3-4% have this extra chromosome material attached to another chromosome, known as a translocation. This form can sometimes be inherited from a parent who carries a balanced translocation. The aim of the study is to find out how common translocation Down syndrome is among children with confirmed Down syndrome in Assiut, Egypt, and to check whether their parents are carriers of a balanced translocation. Understanding this will help improve family counseling, estimate the chance of recurrence in future pregnancies, and guide genetic screening and prevention strategies.