Causes, diagnosis, characteristics and interventions Karen Stewart EMR 6052 University of South Florida, St. Petersburg

 Fragile X Syndrome (FXS)  Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)  Fragile X-associated Primary Ovarian Insufficiency (FXPOI)

 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

 FXS  Identification of a mutation in the FMR1 in an individual with developmental delay or intellectual disability  FXTAS  Premutation 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  FXPOI  Menopause before age 40 in a woman who has one FMR1 premutation

 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 males  Found in 1/3 of females

 Seizures  15% of males  5% of females  Physical features (Exhibited by most males and half of females)  Long & narrow face  Large ears  Prominent jaw & forehead  Very flexible fingers  Flat feet  Enlarged testicles after puberty (males)

FXTASFXPOI  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

 Early intervention is key  Special education services  Speech Therapy  Language Therapy  Occupational Therapy  Daily living skills  Social skills  Sensory Diet  intervention/therapy/sensory-diet/ intervention/therapy/sensory-diet/  Transition planning for adulthood

 _content&view=article&id=496&Itemid=729 _content&view=article&id=496&Itemid=729  syndrome# syndrome#  associated-disorders/ associated-disorders/