Active clinical trials for "Developmental Disabilities"

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. ...

To evaluate, in primary care, the sensitivity of Heterophory-Vertical-Labile (HV-Labile) in ambulatory screening for Specific Learning Disabilities (SLD) and Developmental Coordination Disorder (DCD). in children aged 8 to 12 years.

We have been asked to participate in the Pediatric Anesthesia NeuroDevelopmental Assessment Study (PANDAS), which is a study to compare neurocognitive functions in sibling pairs: one of whom had exposure to anesthesia during inguinal hernia surgery before three years of age (exposed) and the other who was not exposed to anesthesia or surgery in the first three years of life (unexposed). A consortium of approximately 6 hospitals is doing this feasibility study to determine if there is an adequate number of subjects for each of the two age groups before the formal study begins.

After birth, the mother-child dyad can be impacted by issues which are usually under-detected or detected at early stage. Among these issues, neurodevelopmental disorders (NDD) such as autism spectrum disorder are common and affect 1 in 59 children but are detected after 4 years of age although it could be detected using parent report screens as early as 12 or 18 months of age. Moreover, parents are the main contributors of the screening of NDD in their children. In a recent French survey, the identification of the first symptoms was done by parents in 61% of cases and a health professional in only 14% and the mean age of disease detection was 6.8 years for autism spectrum disorder. Other troubles that deserve early screening are hearing disorders which are observed in 1 child in 300 at 3 years of age and the main visual trouble in toddlers such as amblyopia which is observed with a prevalence of 3%. Another issue that deserves improvement is the rate of mandatory or recommended vaccines in toddler which is only 71% for C-meningococcus and 79% for measles or rubella. Concerning the mother, postnatal depression is defined as an episode of minor or major depression occurring during the first year postpartum with a pooled prevalence of 17.7%. Despite the high prevalence of this disorder and its potential impact on child development it remains underdetected and undertreated in daily practice. The common point between all these disorders is that they can benefit from early detection by questionnaires intended for parents for their children or for themselves, because early treatment improves prognosis or prevent diseases. An "all-in-one" multi-domain familial digital health record Patient reported outcomes application has been developing to help for early screening of neurodevelopmental disorders of toddler after birth to 3 years of age and mother's postnatal depression, to improve vaccinations rate of toddlers and to provide advice to parents for child development. The aim of the study is to assess in a real-world data-based the performances of this application.

Background: Williams Syndrome (WS) is a genetic disorder. People with WS have less of a protein that allows parts of the body to stretch than other individuals. Researchers are interested in the stretchiness of the skin of people with WS and how it may relate to cardiovascular problems some people with WS develop. They are also interested in identifying exposures such as medications that may change the elasticity of the skin and vessels. Objective: To learn more about the skin and blood vessels in individuals with WS and how those tissues change over time. Eligibility: People ages 5-70 with WS. People ages 1-70 with a medical condition that affects connective tissue. Design: Participants will be screened with a review of their medical records. Participants will have 1 visit. Participants with WS may do so at a Williams Syndrome Association family meeting or camp, or at NIH. Other participants will be seen at NIH. During the visit, participants will have height, weight, and blood pressure measured. Researchers will listen to the participant s chest and abdomen. Participants skin will be examined. It may be photographed. Participants will have photos of their eyes and face taken. Researchers will use a DermaLab Suction Cup Probe. A small suction cup will be placed on the arm with a sticker. It will pull lightly on the skin. This allows a computer to measure skin flexibility. Researchers will use a SphygmoCor. A probe that looks like a dull pencil will be placed on the wrist, neck, and groin area. A computer will measure how fast the pulse is moving and will estimate blood vessel flexibility. Participants may be invited to have these procedures repeated at a later date (2 years from now or more). ...

A retrospective chart review to assess feeding tolerance in children who had been switched from an intact protein formula to a Peptide based formula due to feeding intolerance in a pediatric facility for the developmentally delayed.

This study investigates physical changes in children with Dyslexia and Intellectual Disability. Participants divided into three groups and Body Posture, Postural Control and Hand Grip Strengths was evaluated.

The primary aims of this study are to assess: The inter-rater and test-retest reliability of the MINI-KID The validity of the standard MINI-KID interview in relation to the parent rated pencil/paper version (MINI-KID-P) and th longer clinician rated "Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version (K-SADS-PL) and "expert opinion" (when available). Secondary aims will include evaluating the concordance between: The Children's Global Assessment Scale (a required part of the K-SADS) with the clinician-rated Sheehan Disability Scale (to be administered with the MINI-KID) as a measure of illness severity.

The specific is to study the MR morphologic and spectroscopic brain correlates and predictors of development in children with severe developmental disorders (autistic spectrum disorders and/or mental retardation and/or language disorders). Given the frequently observed association of autism with known medical conditions, particularly in cases with comorbid mental retardation and in cases with atypical autism (Rutter et al., 1994; Gillberg, 1995), children with suspected autism or related developmental disorders will be asked to participate in an extensive state of the art laboratory work-up which includes T1 and T2 weighted MRI of the brain. MRI data will be analyzed both qualitatively, looking for focal abnormalities and degree of myelination, and quantitatively, measuring volumes of total brain, cerebellum, ventricles and grey and white matter. For research purposes, the work-up will be supplied with proton Magnetic Resonance Spectroscopy (MRS) of the brain. This data set provides the opportunity to chart brain-behavior relationships in young children with suspected autism and related PDD cross-sectionally.

In this study workers are trying to test the correlation between Hammersmith Infant Neurological Examination and MRI brain/cranial ultrasound with early prediction of neurological developmental outcome of preterm neonates. This study is prospective cross-sectional collecting the data of patients according to daily standard medical practice