FRAGILE X Causes, diagnosis, characteristics and

interventions

Karen Stewart

EMR 6052

University of South Florida, St. Petersburg

TYPES OF FRAGILE X DISORDERS (FXD)

Fragile X Syndrome (FXS)

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)

Fragile X-associated Primary Ovarian Insufficiency (FXPOI)

CAUSES FXS

Mutation in the fragile x retardation 1 (FMR1) gene as a result of expansions and abnormal repetitions of the CGG trinucleotide. This causes the gene to be turned off and it makes little or none of the protein (FMRP) needed for normal functioning.

FXTAS Premutation of the FMR1 gene caused by

abnormal repetitions of the CGG, causing difficulty in making protein.

FXPOI Premutation of the FMR1 gene found only in

females

DIAGNOSTIC CRITERIA FXS

Identification of a mutation in the FMR1 in an individual with developmental delay or intellectual disability

FXTASPremutation in FMR1 and white matter

lesions on parts of the brain and/or brain stem

Probable or possible diagnosis based on major and minor neuroradiological and clinical signs

FXPOIMenopause before age 40 in a woman who

has one FMR1 premutation

CHARACTERISTICS OF FXS Delayed development of speech and

language by age 2 May have anxiety and hyperactive

behavior such as fidgeting or impulsive actions

May have ADD 1/3 have ASD features that affect

communication and social interactions ID

Moderate to mild in malesFound in 1/3 of females

CHARACTERISTICS OF FXS Seizures

15% of males5% of females

Physical features (Exhibited by most males and half of females)Long & narrow faceLarge earsProminent jaw & foreheadVery flexible fingersFlat feetEnlarged testicles after puberty (males)

OTHER CHARACTERISTICS

FXTAS FXPOI

Later onset and worsens over time

Balance issues Tremors Memory problems Mostly in males Reduced sensation

in lower extremities Milder versions of

FXS features

Found in females Decreased ovarian

function Possible infertility

and early menopause

Abnormal menstrual cycles

INTERVENTIONS Early intervention is key

Special education servicesSpeech TherapyLanguage TherapyOccupational TherapyDaily living skillsSocial skills

Sensory Diethttp://www.fragilex.org/treatment-interventi

on/therapy/sensory-diet/

Transition planning for adulthood

REFERENCES http://

genefacts.org/index.php?option=com_content&view=article&id=496&Itemid=729

http://ghr.nlm.nih.gov/condition/fragile-x-syndrome#

http://www.fragilex.org/fragile-x-associated-disorders/