FRAGILESYNDROME Gopal Singh Charan Lecturer, SGL Nursing Institutes Semi, Jalandhar X-linked diseases: X-linked diseases are

e those for which the gene is present on the X chromosome. X-linked diseases show inheritance patterns that differ from autosomal diseases. This occurs because males only have one copy of the X chromosome (plus their Y chromosome) and females have two X chromosomes. X-linked genes are never passed from father to son. The Y chromosome is the only sex chromosome that passes from father to son. Males are never carriers if they have a mutated gene on the X chromosome, it will be expressed. Males are termed hemizygous for genes on the X chromosome. FXS DEFINITION: Fragile X syndrome (Marker X syndrome ) is a genetic condition involving changes in the long arm of the X chromosome. It is characterized by mental retardation. INCIDENCE Affects 1 in 3,600 males & 1 in 4,000- 6,000 females 1 in 260 women are carriers 1 in 800 men are carriers Fragile X appears in all socioeconomic background In Alabama, carriers and full mutations are estimated at 15,978 Second only to Downs Syndrome as a genetic cause of mental retardation Unlike Downs Syndrome, maternal age is not a factor The most common known cause of autism About 30% of individuals with Fragile X Syndrome have autism 2-6% of individuals with autism have Fragile X Syndrome Both Males and Females Can Have Fragile X Syndrome BOYS Approximately 85% of boys with F.M. have cognitive defects in the MR range (below 70) . The production of FMR1 protein is usually shut down GIRLS Approximately 70% of girls with F.M. have cognitive defects in borderline to M.R. range (below 70). Girls with more protein-producing cells tend to have higher IQs

CAUSES OF 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 CLINICAL FEATURES Macrotia (Large ears) Long, narrow face Prominent forehead Prominent, square chin High palate (roof of mouth) Hand calluses Mitral valve prolapse (a leaky heart valve) Seizures Eye problems Macroorchidism Ear infections Flat feet Hyper extensible joints Eye problems in 20%-25%: Refractive errors Strabismus Astigmatisms Seizures Missing developmental milestones COMMON DIFFICULTIES Sleeping Toilet training Socialization Play Cognitive The Fragile X mutation affects brain development and leads to a range of cognitive delays.

 Developmental delays Mental impairment Learning disabilities Difficulties with frontal lobe functions (executive functions): Organization of information: Acting on that information in an effective manner Focusing attention Forming a plan and carrying it out Behavior: Attention deficits Hyperactivity Impulsivity Autistic-like behaviors Repetitive behaviors Hand flapping Hand biting Gaze aversion Extreme anxiety, shyness Transition problems, difficulty adjusting to change Cognitive/ Behavioral Strengths Strong visual memory Long term memory Good verbal imitative skills Desire to be social Strong appreciation of humor Often receptive to helping or working cooperatively Speech and Language : Sensory Processing: Sensory processing often seen in infants and young children: Gross Motor problems. Fine Motor problems. Early/ Preschool Interventions: Speech and language therapy Occupational therapy Occasional physical therapy Settings with consistency, structure and routine Total communication program Simultaneous not sequential Visual learners Incidental learners

Suggested Recreational Opportunities Medications Attention-related problems Hyperactivity/ impulsivity Mood disorders/ depression Anxiety/ panic Aggression Obsessive/ compulsive symptoms Bedwetting Sleep disorders Seizures Self injury Trampolines Bicycling Swimming Bowling Soccer Gym/Fitness Center Softball Martial Arts Scouts Choirs or other musical venues Special Olympics Challenger sports