Rett Syndrome

1. Rett Syndrome Primary Health Care of Children in the Family NURS 640 Dr. D. Raley By: Kenyatta Hough, Natasha Lomax, Tamika Missouri, Amanda Rothenbecker, Monique Veney

2. Video: Living with Rett Syndrome https://www.youtube.com/watch?v=FMEOz1Ul82o

3. What is Rett Syndrome? Rett Syndrome is a rare, neuro- developmental genetic disorder , characterized by developmental reversals in babies that previously exhibited normal growth and development patterns (National Institute of Neurological Disorders and Stroke [NINDS], 2014).

4. What causes Rett Syndrome? Most cases are caused by random mutation on the X- chromosome on the methyl CpG binding protein 2, or MECP2 gene on the X- chromosome, which is needed for brain development and normal nerve function. The MECP2 protein is responsible for increasing or decreasing gene expression in other genes (NINDS, 2014).

5. Who gets Rett Syndrome? • 1 in every 10,000 live female births world wide (NINDS, 2014). • All ethnic/ racial groups at risk (NINDS, 2014). • Less than 1% related to inherited disorder (NINDS, 2014).

6. Clinical Presentation • Females 6-18 months • Slowing of head growth • Loss of speech and hand skills • Gait abnormalities • Repetitive hand movements

7. Rett vs. Autism • Rett: Prefer people to objects, Decelerated head growth, Loss of purposeful hand skills, Enjoys affection • Autism: Normal head growth, Hand flapping, Prefers objects to people

8. Diagnosis Currently, Rett Syndrome is diagnosed if the patient meets defined clinical criteria, and is supported by genetic testing The diagnostic guidelines are divided into three types of clinical criteria: main, supportive, and exclusion

9. Main Criteria • Main diagnostic criteria include normal growth and development in the first 5-6 months of life. Normal head circumference at birth with a decrease through infancy • Partial or complete loss of purposeful hand skills, partial or complete loss of spoke language, repetitive hand movement, and gait abnormalities

10. Supportive Criteria • Scoliosis, small cold hands and feet, abnormal sleep patterns, abnormal muscle tone, inappropriate crying, dreaming, or laughing; intense eye communication and inappropriate response to pain

11. Exclusion Criteria • Rules out a diagnosis of Rett syndrome. They include brain injury, metabolic disorders, and severe infection.

12. Stages • Stage 1- Early Onset Stage (Age: 6 months to 1.5 years) Duration: Months • Stage 2- Rapid Destructive Stage (Age: 1-4 years) Duration: Weeks-Months Stage 3- Plateau Stage (Age: Preschool-Adulthood) Duration- Decades Stage 4-Late Motor Deterioration Stage (Age: When Ambulation is lost: 5-25 years) Duration: Up to decades

13. Differential Diagnosis • Stage 1: cerebral palsy vs. fetal alcohol syndrome vs. Trisomy 13 vs. Benign congenital hypotonia • Stage 2: Autism spectrum disorders vs. Landau-Klenffer syndrome vs. Psychoses vs. Metabolic disorders • Stage 3: cerebral palsy, spastic ataxia vs. Angelman syndrome • Stage 4: degenerative disorders

14. Daily Life with Rett Syndrome Caregivers: • Feeding • Hygiene • Toilet • Help with Walking or Lifting and Carrying • Assist with Communication devices

15. What will she be able to do? Learn independent skills: • Toileting with assistance • Learn to feed themselves by hand or utensils • Learn to use communication devices • Can express full range of emotions • Participate in social, educational, and recreational activities at home or in the community

16. What will she be able to do? Learn independent skills: • Toileting with assistance • Learn to feed themselves by hand or utensils • Learn to use communication devices • Can express full range of emotions • Participate in social, educational, and recreational activities at home or in the community

17. Life Expectancy • 95% will reach Age: 20-25 years • 69% will reach Age: 25-40 years • Average life expectancy may exceed 47 years • Males- Fatal • Death is sudden and unexplained

18. Rett Syndrome Research • Guaifenesin Clinical Trial -Placebo Controlled Trial of Dextromethorphan in Rett Syndrome (PCTDMRTT)

19. Rett Syndrome Resources • International Rett Syndrome Foundation - Cincinnati, OH • National Institute of Child Health and Human Development (NICHD)- Bethesda, MD • Office of Rare Diseases (National Institutes of Health) - Bethesda, MD • Easter Seals - Chicago, IL • National Institutes of Mental Health - Bethesda, MD • Rett Syndrome Research Trust - Trumbull, CT • Kennedy Krieger Institute Baltimore, MD • (Dr. SakkuBai Naidu)

20. References Gray, R. M., Johnston, M. V., Kaufman, W. E., Speedie, L. J., & Tierney, E. (n.d.). Rett Syndrome. Retrieved December 8, 2014, from http://gcbcenter.kennedykrieger.org/rett.jsp Kastanotis, T. [tomkastanotis ]. (2014, Feb. 4). Boca raton family shows effects of rett syndrome on their daughter while urging more research [Video file]. Retrieved from http:/ www.youtube.com/watch?v=FMEOz1Ul82o National Institute of Neurological Disorders and Stroke. (2014). Rett syndrome fact sheet. Retrieved from www.ninds.nih.gov/disorders/rett/detail_rett.htm Rett syndrome. (n.d.). Retrieved December 8, 2014, from http://Rettsyndrome.org