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Transcript of Causes, diagnosis, characteristics and interventions Karen Stewart EMR 6052 University of South...
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/