Clinical Research Directory

Mindful Movement And GAME BASED Training In Developmental Delay

Developmental delay in children is characterized by delayed acquisition of cognitive, motor, language, and social skills and is commonly associated with conditions such as cerebral palsy, autism spectrum disorder, and genetic disorders. Children with developmental delay frequently experience impairments in motor skills, balance, and gait, which negatively a ffect their functional independence and social participation. Addressing these motor deficits is essential to enhance their quality of life. Mindful movement and game-based training are two therapeutic approaches that have shown potential in improving motor performance in this population. Mindful movement emphasizes slow, controlled movements, body awareness, emotional regulation, imaginative play, and biomechanical warm-up exercises to enhance motor control. In contrast, game-based training employs engaging and interactive activities to improve motor coordination, balance, strength, and social interaction. This randomized clinical trial aims to compare the effects of mindful movement and game-based training in children with developmental delay. The study will be conducted at Acme Hospital over a 10-month period and will include 36 children aged 9-11 years selected through non-probability convenient sampling. Participants will be assigned into two groups: Group A will receive mindful movement therapy, and Group B will undergo game-based training. Outcomes will be assessed using validated tools, including the Bruininks-Oseretsky Test of Motor Proficiency (BOT-2), Pediatric Berg Balance Scale (PBS), Functional Reach Test (FRT), Observational Gait Scale (OGS), and Edinburgh Visual Gait Score (EVGS), to evaluate motor skills, balance, gait, and overall motor proficiency.

Genotype/Phenotype Correlation of MORC2 Mutations

The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Recently, MORC2 mutation have been shown to be responsible for more complex phenotypes like DIFGAN: developmental delay, impaired growth, dysmorphic facies and axonal neuropathy. Different mutations are responsible from a diverse spectrum of phenotype, from CMT to DIFGAN. MORC2 is involved, through its ATPase activity, in DNA repair, chromatin remodeling and epigenetic silencing via the Human silencing hub (HUSH) complex. Our hypothesis is that the hypo- or hyper-activation of the HUSH complex by different MORC2 mutations could be responsible for different phenotypes in patients. The aim of this study is to perform a genotype-phenotype correlation study in patients presenting MORC2 mutations.

Behavioral Parent Training to Address Early Childhood Disruptive Behavior Using the Helping Our Toddlers, Developing Our Children's Skills (HOT DOCS) Program and the Developing Our Children's Skills Kindergarten-5th Grade (DOCS K-5) Program

HOT DOCS and DOCS K-5 are group-delivered behavioral parent training interventions for caregivers of children ages 0-12 years.

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.

Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)

Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity. These conditions present with a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, and vary widely in severity. These disorders are complex, and they remain poorly understood and lack effective treatments. Natural history and clinical genetic studies are crucial for mapping how these disorders progress, improving diagnostic accuracy, and guiding therapy development. A major focus is identifying reliable biomarkers (genetic, imaging, and physiological) to track disease severity and support clinical trials. This study will securely collect and analyze data to better understand disease impact, develop patient-derived model systems, and build resources to support future treatments.

Promoting Playfulness

Health inequalities, social isolation, and family adversity impact a child's development. Play is the context for child development in all areas. A parent's ability to support children at play while being playful contributes to their psychological adjustment. The proposed tier 1, strengths-based educational program for parents of children aged 2 to 5 years with and without disabilities combines elements of a play-based approach and tips on effective parenting to support children's development by equipping parents with knowledge and empowering them to become change agents in their children's lives.