Brain Excitability in Patients With Succinic Semialdehyde Dehydrogenase Deficiency
Succinic SemialdehydeDehydrogenase Deficiency1 moreThis study will measure brain excitability in patients with succinic semialdehyde dehydrogenase (SSADH) deficiency, and in their parents. SSADH is a rare inherited disease in which changes in certain brain chemicals affect brain cell activity. Symptoms vary greatly among patients, and may include mental retardation, impaired ability to coordinate movements, and delays in language and speech development. Other symptoms may include poor muscle tone, uncontrolled seizures and other neurological or behavioral abnormalities. Test findings in patients and their parents will be compared with those of healthy normal volunteers. The following individuals may be eligible for this study: patients with SSADH who are between 5 and 24 years of age; parents of patients who are between 18 and 55 years of age; healthy normal children who are between 10 and 17 years of age; and healthy normal adults who are between 18 and 55 years of age. Candidates are screened with blood and urine tests. All participants undergo the following: Transcranial magnetic stimulation (TMS): This procedure maps brain function. A wire coil is held on the scalp, and a brief electrical current is passed through the coil, creating a magnetic pulse that stimulates the brain. During the stimulation, the subject may be asked to tense certain muscles slightly or perform other simple actions to help position the coil properly. The stimulation may cause a twitch in muscles of the face, arm, or leg, and the subject may hear a click and feel a pulling sensation on the skin under the coil. During the test, electrical activity of muscles is recorded with a computer or other recording device, using electrodes attached to the skin with tape. Magnetic resonance imaging (MRI): This test combines a powerful magnet with an advanced computer system and radio waves to produce accurate, detailed pictures of organs and tissues. During the scan, the subject lies on a table in a narrow cylinder containing a magnetic field, wearing ear plugs to muffle loud noises that occur with electrical switching of the magnetic fields. He or she can speak with a staff member via an intercom system at all times during the procedure. In addition to standard MRI, subjects may have newer MRI tests, such as diffusion tensor MRI and magnetic resonance spectroscopy. In addition to the above, patients and their parents may also undergo the following tests: Electroencephalography (EEG): This test records brain waves (electrical activity of the brain). Electrodes are placed on the scalp and brain electrical activity is recorded while the subject lies quietly, breathes deeply, watches flashes of light, or sleeps. Some patients may also have video-EEG monitoring, which involves simultaneous clinical recording using a video camera along with brain wave recording. Sleep study and multiple sleep latency onset testing (MSLT): Electrodes are placed on the subject's scalp and remain there while the subject sleeps in the hospital overnight. MSLT is done the next day, starting 2 hours after the subject wakes up from the night's sleep. A total of five 20- to 30-minute naps are recorded, each every 2 hours, to access daytime sleepiness. Nerve conduction studies: This test measures the speed with which nerves conduct electrical impulses and the strength of the connection between the nerve and the muscle. A probe is placed on the skin to deliver a small electrical stimulus, and wires taped on the skin record the impulses.
A Speech Sound and Phonemic Awareness Intervention in Flemish Early Childhood Education
Other Developmental Disorders of Speech and LanguageThe language intervention 'Kaatje Klank' is designed for stimulating the speech production and speech perception skills of 4-year-olds in an early childhood educational setting, in order to stimulate early literacy skills. These skills are crucial skills for technical reading in later ages. Good reading skills are an important condition for academic success. To measure the effect of the language intervention 'Kaatje Klank', the intervention will be applied in six Dutch preschool classes (n = 100 children, 50% native speakers of Dutch, 50% non-native speakers) during 12 weeks (daily). Teachers will be trained and observed using a coaching trajectory.To measure the effect on speech production and perception skills, a pre- and posttest and a comparison with a matched control group (n = 100 children, 50% native speakers of Dutch, 50% non-native speakers) will be used. The control group will receive a different language intervention which focuses on vocabulary development (World-project).
Using a New Calibrated Tool in Specific Language and Learning Disorders : the BMTi
Learning DisordersSpecific1 moreThe group of experts at HAS has defined the places of first and second-line workers in specific disorders of development and learning, as defined in the international diagnostic classifications International Classification of Diseases (CIM) CIM 11 and Diagnostic and Statistical Manual of Mental Disorders (DSM) DSM 5. The referral to a second-level structure, a multidisciplinary structure in charge of carrying out the different cognitive assessments, requires a preliminary evaluation. This orientation is based on a medical consultation, carried out by a doctor specialized in the field, with an exploration tool adapted to the different fields concerned. The BMTi, a battery of third-generation tests (after the Rapid battery of evaluation of the cognitive functions (BREV) and then the Evaluation of cognitive functions and learning of the child (EDA)) will enable the doctor, from 2018, to carry out this orientation in a relevant way in response to children with a complaint about neurodevelopment and learning. . The research project aims to validate this hypothesis, by comparing the diagnoses posed in a conventional way with the various multidisciplinary assessments, with the results of the transfer of all or part of the subtests of the BMTi by a doctor of second resort.
Developing an Interdisciplinary Pharmacogenomic Treatment Approach to Reduce Medication Burden and...
Developmental DisabilitiesThere is no common rule as to how a drug will affect patients. This is due to the effect specific DNA sequences of genes have on drug response, by the effect they have on how medications are metabolized. The primary objective of this research is to optimize medication therapy and to reduce the number of medications used, specifically medications for people with developmental disabilities and co-occuring psychiatric illnesses.
Prolonged Outcomes After Nitric Oxide (PrONOx)
Lung DiseasesBronchopulmonary Dysplasia3 moreThe purpose of this study is to look at the long term consequences of prematurity in infants treated with inhaled nitric oxide (iNO) while in the neonatal intensive care unit.
Self-identified Participation and Environment of Children With Disabilities
Developmental DisabilityPicture My Participation (PmP) is a child self-report tool for children and adolescents with disabilities. The PmP uses pictures that enable children to identify participation frequencies, participation goals, and environmental supports/barriers to a home, school, and community activities. The PmP has been translated to different languages and cultures, including Traditional Chinese for the use in Taiwan. Given the advances and popularity of mobile technologies, the PmP-Traditional Chinese version has been developed into App software (PmP-C App) to provide a fun and user-friendly interface to promote communication and active engagement in the assessment process. The PmP-C App version would be need to establish the usability, reliability and validity in children with various types of disabilities. The purposes of this study are to: establish usability, reliability, and validity using the PMP App version, and characterize child-identified participation goals and identify environmental supports and barriers in children with and without disabilities. Data will be collected by examination and interviews using the PmP-C App and other measures for validation.
Enhancing Social Communication and Emotional Development in Under 5 Children
Early Childhood Developmental Disability (Disorder)In the United Nation's Sustainable Development Goals (SDGs), the conversation has shifted from the complexity of ensuring decrease in infant mortality to that of holistic wellbeing of children from conception onwards by ensuring early learning opportunities along with nutrition, security and safety. About 13 - 23 percent children in Bangladesh present symptoms of diagnosable and preventable mental health conditions in early childhood. The aim of this effectiveness-implementation hybrid type 2 cluster randomized trial is to implement training program to enhance parental understanding of child's social communication and emotional development, ways to support positive behavior management skills, and to enhance parents' cognizance about when professional help may be sought. Shuchona Foundation's module-based training manual on Social Communication and Emotional Skill Development (SCESD) is designed to sensitize and educate parents/ caregivers on child development. This module will be implemented in Sonargaon, Gojaria and Raiganj Upazilas. The administrative wards in the unions will serve as clusters for the study's first phase. The first phase of six months duration will explore qualitatively the adaptability of existing health system, train field level health workers, training of the data collectors on administering Ages and Stages Questionnaire (ASQ), enrol mothers for equipping them with knowledge and skill to stimulate Early Childhood Development (ECD) and identify delayed childhood development, followed by assessment of ability of mothers to note secondary outcomes or delay at the earliest. The sessions for mother will be conducted using the existing health system of Bangladesh. A mixed-methods approach comprising of process mapping, qualitative and quantitative data analyses will be used to assess implementation of the intervention with focus on identifying failures in implementation, why they exist and how to reduce them for future implementation and scale-up.
Collaborative Consultation for Participation Among Students With IDD
Mental Retardation and Developmental Disabilities With Organic ConditionObjective: Developing and corroborating the Collaborative Consultation for Participation of Students with Intellectual Disability (Co-PID) program, for enhancing classroom participation among students with moderate Intellectual and Developmental Disability (IDD). Method: study took place in two special education schools and included students with moderate IDD (n=60) and their teachers (n=11). The settings were randomly assigned to intervention or control group. In the intervention group, Co-PID program was employed; in the control group an In-Service (IS) was employed. Participation was evaluated at pre-test and post-test.
PET Imaging of GABA Receptors in Succinic Semialdehyde Dehydrogenase Deficiency
Succinic Semialdehyde Dehydrogenase DeficiencySSADH DeficiencyThis study will use brain imaging to map brain cell receptors for a chemical called GABA, a chemical that inhibits the activities of nerve cells. The study includes patients with succinic semialdehyde dehydrogenase deficiency, or SSADH (a disorder in which an enzyme deficiency disrupts GABA metabolism), their parents, and healthy volunteers. SSADH deficiency causes various neurological and neuromuscular problems, including mild to severe mental retardation, delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation), delays in language and speech development, and other symptoms. Healthy volunteers 18-55 years of age, patients with SSADH between 5 and 24 years of age, and parents of patients 18-55 years of age may be eligible for this study. Participants undergo magnetic resonance imaging (MRI) and positron emission tomography (PET) scanning as follows: Magnetic resonance imaging MRI uses a magnetic field and radio waves to produce images of body tissues and organs. For this procedure, the subject lies on a table that is moved into the scanner (a narrow metal cylinder surrounded by a magnetic field) wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. Scanning time varies from 20 minutes to 3 hours, with most scans lasting between 45 and 90 minutes. Participants may be asked to lie still for up to 90 minutes at a time. In addition to standard MRI, participants may also have new types of MRI that may detect brain abnormalities when regular MRI is normal, such as diffusion tensor MRI and magnetic resonance spectroscopy. There are no noticeable differences from ordinary MRI scans. Positron Emission Tomography A catheter (plastic tube) is placed in a vein in the subject's wrist. The subject lies on a table with his or her head placed in the scanner. A mask, used to help keep the head still in the scanner, is placed over the head. The mask is not uncomfortable and has holes for the subject to see through. A radioactive compound called flumazenil is injected into a vein. The scan takes about 90 minutes. Some children need to be sedated for PET or MRI scans. In these cases, chloral hydrate, a standard drug for pediatric diagnostic procedures, is used. ...
Teaching Math Skills to Individuals With Fragile X Syndrome
Developmental DisabilitiesFragile X SyndromeChildren with FXS are predisposed to manifesting a particular profile of intellectual strengths and weaknesses, including specific deficits in math, visual-spatial skills, executive functioning, and social skills. Until now, intensive behavioral interventions have not been targeted to syndrome-specific weaknesses. In the present study we will develop and evaluate behavioral strategies to aid skill acquisition in children with FXS.