Fragile X syndrome

Fragile X syndrome

Defenition: A genetic disorder which can cause cognitive impairment and a number of other physical and behavioural characteristics. Some of these behaviours, such as poor eye contact, hand flapping, and poor social skills, also occur in children with autism. While most children with Fragile X Syndrome do not have all the characteristics of autism, about 15% to 33% are diagnosed as autistic. Individuals can be tested for "Fragile X" by having a blood test and having their chromosomes examined by a geneticist.

Presentation by: Michael Garrett Logan

What is Fragile X Syndrome?

* According to the National Fragile X foundation, “fragile X syndrome is the most common cause of mental impairment”
* Impairments range from learning disabilities to severe cognitive disabilities to intellectual disabilities.
* Fragile X is the most common known cause of autism and autism like behaviors.

http://www.fragilex.org

What causes Fragile X Syndrome
* Fragile X syndrome is a genetic disorder passed from parent to offspring through DNA.
* It is caused by mutation of the FMR1 gene (Fragile X mental retardation 1) on the X chromosome.
* This mutation is the result of a trinucleotide repeat disorder.
* A section of the FMR1 DNA usually repeats a sequence known as CGG (cytosine, guanine & guanine) 30-55 times. For someone with Fragile X syndrome, this section repeats itself 200-800 times.
* This causes the FMR1 gene not to produce the FMRP (Fragile X mental retardation protein).
* Mutation of this gene can vary between premature mutation and full mutation.

Other disorders associated with this gene mutation:
* fragile x associated tremor/ataxia
* fragile x associated POF (premature ovarian failure)

Demographics
Characteristics

* Fragile X Syndrome (FXS) affects people in a variety of ways. In some carriers these characteristics are hardly noticeable, while in others these characteristics are extremely evident.
* FXS can affect physical appearance, cognitive abilities, behavior, sensory capabilities; and speech and language.

Physical Characteristics
* Distinctive facial features.
* Connective tissue problems
* Macroorchidism (enlarging of the testicles)


Cognitive Development in Males
Cognitive Development in Girls
Behavioral Characteristics
Positive: sweet, loving, desire for social interaction
Behavioral difficulties: ADHD symptoms, hand flapping, chewing/biting (skin, clothes), sensory defensiveness, anxiety, coprolalia (repetitive bursts of swearing), autistic related behaviors, psychosis, schizophrenia, tics
Sensory Processing Problems
* Many behavioral problems are associated with sensory processing disorders common in FXS patients
* Sensitive to light, sound and touch.
* High difficulty maintaining eye contact

Speech and language difficulties
Impact on The Individual
Daily Impact
* Daily living skills are a challenge for FXS patients and their families.
* Sleep: infants struggle to go to sleep, bedding is irritating, children and adults awaken in the middle of the night and wander
* Eating: Breast feeding for infants is difficult, children over fill their mouths when eating, they have trouble chewing and are extremely picky about what they eat.
* Dressing: Parents or caregivers must pay attention to what fabrics FXS patients wear. They may need extra assistance at young ages due to low muscle tone.
* Hygiene: bathing, shaving and brushing teeth are difficult due to hyper stimulation.
* Toilet training: difficult due to developmental delays.

Diagnoses
Treatments
* There is no cure for FXS
* Treatments include: specialized education, speech & occupational therapy, sensory integration training, behavior modification and possible corrective heart surgery, ADHD medications and folic acid.
* Genetic Counseling

Educational Interventions

Fragile X syndrome.ppt