This column contains some of the recognised genetic disorders which often result in the behaviours associated with autism.
FRAGILE X SYNDROME
In 1943, James Martin and Julia Bell studied a family in which several of the males had mental retardation. They found it was linked to the (FMR1) gene on the X chromosome. More
RETTS SYNDROME
First described by Dr. Andreas Rett in 1966, this mainly affects females who develop normally until 6 to 18 months and then begin to regress significantly: some losing their speech, the ability to walk, and the loss of most basic motor functioning. More
Learning difficulties, autism, seizures, disturbed sleep patterns and periods of irritability are common. Some make spontaneous sounds or repetitive hand movements, hyperventilate and/or hold their breath and grimace or grind their teeth.
TUBEROUS SCLEROSIS (TS)
This genetic disorder that causes benign tumors to form in many different organs - primarily in the brain, eyes, heart, kidney, skin, and lungs. More
It is often first recognized because of two neurologic symptoms - epileptic seizures and varying degrees of learning difficulties but many people with TS also have autism.