View clinical trials related to Brain Disorders.
Filter by:Background: - Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally. It can also cause speech, swallowing or breathing difficulties and affect parts of the body, such as the limbs, jaw, muscles, or the heart. Some individuals with Moebius can have intellectual impairment or behavior problems. Researchers want to study the clinical features of individuals with Moebius or related disorders and explore the genetic and/or environmental causes of these conditions. Objective: - To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders. Eligibility: - People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members. Design: - Participants with Moebius syndrome or other congenital facial weakness disorder will be evaluated at the NIH Clinical Research Center over 3 to 5 days and undergo the following procedures: - Medical and family history and physical examination, including body measurements and vital signs. - Blood or saliva will be collected for genetic tests and to evaluate liver, kidney, heart and hormonal functions. - Eye examination, including having a video taken of their eyes moving. - Hearing evaluation. - Speech and language assessment, including swallowing studies. - Dental exam. - Detailed neurological evaluation, including electromyogram/nerve conduction and blink reflex study. - Rehabilitation medicine evaluation, including muscle and tongue strength testing and assessment of balance. - Neurocognitive and behavioral testing and questionnaires to assess quality of life and copying mechanisms. - Imaging studies of their head, by magnetic resonance and diffusion tensor imaging -MRI/DTI. Participants will lie on a table that slides into a metal cylinder that takes images of internal body structures using magnets. Child participants may be sedated. - Some adults may have additional X-rays of their head or limbs, if there are abnormal findings. - Medical photographs of the face and affected body parts may be taken. - Other specialized tests or consultations, as indicated. - Participants can choose to have a skin biopsy taken. - A follow-up visit will be offered to participants for review of genetic test findings and possibly additional clinical tests, as indicated. Family members of the patients will have a medical and family history and physical examination. Blood or saliva will be obtained for genetic studies.
This study will examine how holoprosencephaly (HPE) affects people, how they change over time, and what genes may be involved in the cause of the disorder. HPE is a defect of brain development in utero in which the forebrain fails to sufficiently divide into two hemispheres, resulting in a single-lobed brain and skull and facial malformations. In most cases, the defects are so severe that babies die before birth. There are three classifications of HPE. In alobar HPE the brain does not divide at all; this form is usually associated with severe facial deformities. In semilobar HPE the hemispheres divide somewhat, causing an intermediate form of the disorder. In lobar HPE, the mildest form, separation of hemispheres is nearly normal. Patients with HPE and their direct blood relatives may participate in this study. Patients are seen by a team of medical specialists at the NIH Clinical Center for the following procedures: - Physical and neurological examination - Eye examination - Imaging studies, such as echocardiogram, abdominal ultrasound, brain MRI - Electroencephalogram (EEG) - Hearing evaluation - Blood and urine samples for genetic and endocrine studies, routine blood chemistries, urinalysis, and urine electrolytes - Other consultations as needed - Possibly photographs, including front and side views of the face and other body parts that may be involved in HPE, such as the eyes, teeth, hands, and feet Parents will be asked questions about the child's prenatal, birth, newborn, and past medical history, growth, behavior and development, and therapy and medication. Because HPE is a genetic disorder and gene changes can be passed on in a family, parents will also be asked to undergo the following procedures: - Completion of a medical and family history form - Physical and neurological examination - Blood and urine samples (for mothers only) - Specialty consultations as indicated - Possibly photographs, including front and side views of the face and other body parts that may be involved in HPE, such as the eyes, teeth, hands, and feet - Psychosocial study. Some parents will be asked to participate in a telephone interview or complete a questionnaire, or both, about their attitudes, beliefs, and concerns about how they and their family cope with their child's condition. Some questionnaires may include questions about aspects of their marriage and personal feelings and experiences. Parents will meet with a doctor and a genetics nurse to discuss the results of the tests and answer questions. Parents may be asked to bring their child back to the NIH after 2 years for follow-up examination and possible additional or repeat testing. ...