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Rett's Disorder Research

(Also Known As: Retts Disorder Research, Rett's Research, Retts Research, Autism Research, Pervasive Development Disorder Research, Mental Retardation Research, Neurological Disorder Research)

(Reviewed by: Paul Peterson, Licensed Therapist)

Rett’s Disorder related research

Mosaicism:

Until 2000, Rett's disorder was thought to mainly occur in girls, but there have been two reported cases in boys as well. Since RS is caused by a mutation on the X chromosome that affects the production of a vital brain development protein, and the Y chromosome that determines male sex cannot compensate for a damaged X chromosome, a male fetus with a defective X chromosome does not usually survive. The two known cases of RS in boys involve one child who has two X chromosomes as well as a Y, and a child whose X chromosome is faulty in some of the cells in his body but not all. This condition is known as mosaicism. 12

Therapies for MECP2 disorders:

According to recent research studies, neurological disorders due to loss or deficiency of MeCP2 can be reversed, based on the principle of gene function restoration. This entails that neurons which were affected by deficiency or impairment of MeCP2 function can regain their functionality once MeCP2 is provided gradually and in the correct spatial distribution. This provides hope for restoring neuronal function in patients with Rett’s disorder. However, the challenge in this method is providing the critical factors that function downstream of MeCP2, because of the importance of delivering the correct MeCP2 dosage only to neurons that lack it, considering that the slightest change in MeCP2 level will be deleterious.13

Could You Have Rett's Disorder?

Rett's Disorder Topics

Related Conditions

Asperger's Syndrome – autism, delayed development in motor, communication and social skills, cognitive impairment, clumsiness
Autism – brain development disorder, Asperger’s disorder, impaired social interaction, restricted and repetitive behavior
Childhood Disintegrative Disorder - late onset of delayed development, impaired social, motor and communication skills
Pervasive Developmental Disorder NOS - delayed development in social, communication and motor skills