More than one thousand genetic disorders that lead to abnormalities of brain structure and function have now been identified.
They include a large number of neurometabolic disorders such as Adrenoleukodystrophy (ALD), Barth Syndrome, birth defects, brain malformations, epilepsy, Fragile-X, HPE,, mitochondrial disorders, Rett Syndrome and Smith-Lemli-Opitz Syndrome (SLOS), in which the precise biochemical disturbance has been identified. Other disorders such as Down Syndrome, in which abnormalities in the number or structure of chromosomes occurs, have also been identified.
Recent improvements in techniques, such as liquid and high performance chromatography, mass spectrometry, enzymatic, cytogenetics and molecular analyses and studies in animal models of human disease states have led to better understanding of how these disorders damage the nervous system and have also led to new treatments. These treatments may involve diet, special dietary supplements, pharmacological agents and transplants.
Therapies are most effective when offered early in life when symptoms are absent or still mild, adding to the continued need to refine diagnostic methods. Another priority is to conduct carefully supervised therapeutic trials in order to determine as quickly as possible which treatments are most effective.
Fundamental to these ambitious goals is the frequent and effective collaboration between experts in a wide range of disciplines, such as pediatrics, neurology, psychiatry, rehabilitation, genetics, biochemistry, neuroimaging, psychology, nutrition, occupational therapy, physical therapy, speech and language education. Such collaborations have been a tradition at the Kennedy Krieger Institute for 35 years.