We receive referrals from all children's hospitals in the Dallas/Ft. Worth metroplex, as well as from more distant areas. The division’s clinical activities at Children’s Medical Center are focused in three areas:
Down Syndrome Clinic
Faculty and staff have more than fifty collective years of experience in caring for children with Down Syndrome and provide comprehensive treatment for children and their families, including medical management, genetic counseling, physical, speech and motor development evaluation and recommendations, psychosocial support, screening and referral for behavioral and psychiatric problems, and referral to community agencies for educational intervention or therapies.
Children with conditions involving birth defects, developmental delay or mental retardation, metabolic disorders, or known or suspected genetic disorders receive evaluation and testing in the Genetics Clinic. Chromosomal metabolic and DNA analysis for diagnosis of genetic disease is provided, as well as psychosocial assessment, nutritional evaluation and counseling, and comprehensive case management with referral to medical specialists, community resources, and support groups. Family history analysis and genetic counseling to discuss reproductive options also are available.
Metabolic Disease Clinic
The Metabolic Disease Service provides evaluation and testing for children with known or suspected inborn errors of metabolism, as well as education about specific inborn errors of metabolism. Blood, urine, enzyme, and DNA analyses for diagnosis are performed for diagnosis and treatment, and nutritional evaluation and counseling and psychosocial assessment and counseling are provided.
The Metabolic Disease Service also functions as a major referral center for the Texas Newborn Screening Program. This statewide program seeks to identify newborn babies with any of 29 different treatable diseases, many of which are genetic/metabolic in nature. A large fraction of the more than 400,000 babies born in Texas each year are evaluated at Children’s Medical Center. When a baby in North Texas is found to have a metabolic abnormality on the newborn screen, the family is referred to our team for definitive diagnosis, treatment, and long-term care if necessary. Through the Texas Newborn Screening Program, more than 75 children with metabolic diseases are identified each year, and the coordinated care of these children by the Metabolic Disease Service at Children’s significantly improves their development and survival.
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