Fragile X Syndrome

**Fragile X Syndrome** ====================== **[Fragile X Syndrome (FXS)]** ------------------------------------------ - Genetic disorder caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1) - FMR1 makes a protein called FMRP that is needed for brain deve...

**Fragile X Syndrome** ====================== **[Fragile X Syndrome (FXS)]** ------------------------------------------ - Genetic disorder caused by changes in a gene called Fragile X Messenger Ribonucleoprotein 1 (FMR1) - FMR1 makes a protein called FMRP that is needed for brain development and individuals with FXS do not make this protein ***Prevalence:*** - FXS affects both males and females, although females typically have milder symptoms than males - The exact number of people who have FXS is unknown, but a review of research studies estimated that about 1 in 7,000 males about 1 in 11,000 females have been diagnosed with FXS - Developmental delays (not sitting, walking, or talking at the same time as other children the same age) - Learning disabilities (trouble learning new skills) - Social and behavior problems (such as not making eye contact, anxiety, trouble paying attention, hand flapping, acting and speaking without thinking, and being very active) - Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. - Females with FXS can have normal intelligence or some degree of intellectual disability. - Autism spectrum disorder (ASD) also occur more frequently among people with FXS **[Physical Features and Behavioral Characteristics]** - Macroorchidism (large testes) - Facial features: prominent ears, macrocephaly (large head), long face, prominent jaw and forehead, and high arched palate - Hyperextensible joints, flat feet, and soft skin - Speech delay - Motor delay - Behavioral difficulties, ADHD, anxiety, and/or academic delay **[Developmental Milestones]** People with FXS may have the following developmental delays: - Walking - Talking - Toilet training - Problems with learning - Trouble making eye contact - Sensory difficulties (trouble with what a person sees, hears, smells, tastes, and touches) **[Associated Medical Complications]** - Frequent otitis media - Strabismus (crossed eyes) - Seizures - Sleep disorder - GE reflux - Sleep apnea - Loose stools **[Diagnosis]** - FXS can be diagnosed by testing a person's DNA from a blood test. - Diagnosed by a Doctor or Genetic counselor - A diagnosis of FXS can be helpful to the family because it can provide a reason for a child's intellectual disabilities and behavior problems - Typically genetic testing would be done in response to behavioral difficulties and possible physical features. - Prenatal testing include amniocentesis at 16 to 20 weeks or by chorionic villus sampling (CVS) at 10 to 13 weeks (comes with risk factors and is not routine) **[Developmental and Behavioral Concerns]** - Cognitive difficulties: visuospatial skill, working memory, processing of sequential information and attention - Cognitive strengths: visual memory, simultaneous processing, and long-term memory - Full Scale IQ and adaptive function decreases with age; this reflects a difficulty in keeping up developmentally; scores stable in adulthood - ADHD: 73% of males; 30%--63% of females - Anxiety: 86.2% males; 76.9% females - Hyperarousal with overreaction to sensory input - Self-injurious behavior beginning in 1--3 age group and aggression as adolescent - Autism: 50%--66% males and 20% females **[Treatment Approaches]** - Early identification is important - Supportive therapies - Educational intervention - Treatment of medical problems (e.g., otitis media) - Behavioral modification/Applied Behavior Analysis - Psychopharmacology for behavior dysfunction (Stimulants) - Occupational therapy, physical therapy, and speech therapy should be included as part of a comprehensive intervention program based on the specific needs of the individual child