Fragile X Syndrome

Gene carriers can be male or female and although they may not display characteristics of Fragile X they are at risk of having children or offspring with the genetic condition. There may be multiple individuals affected in one family or only one individual may be the first family member to show evidence of the genetic disorder.

Fragile X Syndrome is the most common cause of inherited mental impairment and the only known autism cause portraying the following characteristics⁽¹⁾:

• Physical Features: Flexible joints, large/protruding ears, low muscle tone, long face, large testicles in males, seizure disorders, soft skin, and recurrent otitis media in childhood.

• Behavioral, Intellectual and Social Characteristics: Impulsivity, poor eye contact, autism spectrum disorders, ADHD symptoms, Hand-flapping, hand biting, tactile defensiveness and sensory overload, cognitive impairment, and speech, language and motor delays.

• Difficulties for Adults: Transitions to new environments (e.g. schools and jobs), Learning adult activities of daily living (e.g. money concepts and transportation), managing emotions without aggression, and making/keeping friendships.

• Challenges for Females: Visual and spatial challenges (e.g. reading maps and graphs), mathematics, social anxiety and shyness, poor communication abilities, difficulty noticing social cues, mood swings, and depression.

• Presence of Positive Family History: Family History of learning disabilities, mental impairments, such as autism or other behavioral disorders, family history of female infertility, family history of adults with late onset (after 50) onset neurological difficulties, such as intention tremor, ataxia, memory, or cognitive decline.

Treatments and Interventions

There are also some noticeable characteristics in carriers of the gene (carriers may pass the gene on to children, but do not display all of the above listed symptoms), although you would probably not necessarily notice them unless you knew they were a carrier.

I find that some children I have worked with often display symptoms very similar to Fragile X Syndrome and I wonder if it is actually an under diagnosed condition that may account for the dramatic increase in autism. For more information about Fragile X, you can visit The National Fragile X Foundation.

References