Retts Syndrome - Amanda Fleming Rothenbecker

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Primary Health Care of Children in the Family
NURS 640
Dr. D. Raley
By:
Kenyatta Hough, Natasha Lomax, Tamika Missouri, Amanda
Rothenbecker, Monique Veney
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).
Most cases are caused by random mutation on the Xchromosome 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).
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).
Females 6-18 months
Slowing of head growth
Loss of speech and hand skills
Gait abnormalities
Repetitive hand movements
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
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
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 spoken
language, repetitive hand movement, and gait
abnormalities
Scoliosis, small cold hands and feet, abnormal
sleep patterns, abnormal muscle tone,
inappropriate crying, screaming, or laughing;
intense eye communication and inappropriate
response to pain
Rules out a diagnosis of Rett syndrome. They
include brain injury, metabolic disorders, and
severe infection.
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: PreschoolAdulthood)
Duration- Decades
Stage 4-Late Motor
Deterioration Stage
(Age: When
Ambulation is lost:
5-25 years)
Duration: Up to
decades
Stage 1: cerebral palsy vs. fetal alcohol
syndrome vs. Trisomy 13 vs. Benign congenital
hypotonia
Stage 2: Autism spectrum disorders vs. LandauKlenffer syndrome vs. Psychoses vs. Metabolic
disorders
Stage 3: cerebral palsy, spastic ataxia vs.
Angelman syndrome
Stage 4: degenerative disorders
Caregivers:
Feeding
Hygiene
Toilet
Help with Walking or Lifting and Carrying
Assist with Communication devices
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
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
Guaifenesin Clinical Trial
-Placebo Controlled Trial of Dextromethorphan in
Rett Syndrome (PCTDMRTT)
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)
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
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