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The institute is a consortium of scientists, educators, physicians and parents dedicated to researching the causes of and treatments for autism spectrum disorders, fragile X syndrome, and other neurodevelopmental disorders. The director of the MIND institute is Dr. Leonard Abbeduto. [1]
She is an internationally recognized researcher in the field of genetics of autism spectrum disorder with special focus on genomic instability. Along with her husband Paul Hagerman , she discovered the Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurological disorder that affects older male and rare female carriers of fragile X. [ 3 ...
Fragile X syndrome co-occurs with autism in many cases and is a suspected genetic cause of the autism in these cases. [ 12 ] [ 23 ] This finding has resulted in screening for FMR1 mutation to be considered mandatory in children diagnosed with autism. [ 12 ]
Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms. Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. [2] [3] It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. [4]
It was so named because one part of the X chromosome has a defective piece that appears pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. [40] If one child has Fragile X, there is a 50% chance that boys born to the same parents will have Fragile X (see Mendelian genetics ...
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes.The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability. [1]
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Relationship Development Intervention (RDI) – a trademarked proprietary treatment program for autism spectrum disorders (ASD), based on the belief that the development of dynamic intelligence is the key to improving the quality of life for individuals with autism. Son-Rise – a therapy encouraging adults to connect with autistic children.