Rett Syndrome Case Study 5 year old Girl

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Rett Syndrome Case Study5 year old Girl

• Sara Hanson and Jodie Baunsgard

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The Faces of Rett Syndrome
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Case Study - Lisa

• 5 year 9 month old girl
• with Rett Syndrome
• Ht 107.7 cm
• Wt 12.6kg
• Physical Appearance undernourished with small
  muscle mass and little subcutaneous tissue

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Chief Complaint/Problem

• Lisas parents state she has an excellent
  appetite but are concerned about her low weight
  and slow weight gain

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History of Present Problem

• Born full term weighing 8 lbs 2 ounces and 20.5
  inch long.
• Bottle fed exclusively until 6 months of age.
• At 12 months of age her parents recognized
  delayed progression and development including
  loss of skills such as speaking, using building
  blocks, and sitting up
• She was diagnosed with severe global
  developmental delays at 1 year and 6 months.
• Around 2 years of age, Lisa started constant,
  repetitive hand movements.

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Case Study

• Diagnosed with Rett Syndrome at the age of 3
• Showed delayed growth and weight gain including
  microcephally prior
• Physical exam noted
• wringing of hands and placing them in mouth,
  constipation, shrieking and other loud noises,
  grinding of teeth, seizure disorder, and
  development of spasticity
• Unable to walk, talk, or do any other functioning
  abilities without assistance of parents or older
  brother

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Definition - Rett Syndrome

• A Neurological Disorder that typically occurs
  in girls and is due to a genetic change on the
  MECP2 x chromosome resulting in severe
  neurological delays, causing children to be
  short, thin appearing, and unable to talk.

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Diagnostic Criteria

• Period of normal development until 6-18 months
• (some girls may have an earlier onset of RS with
  no normal period of development)
• slowing in rate of head growth after birth
• Loss of verbal language
• Purposeful hand use is replaced by stereotypical
  hand movements
• If able to walk, gait is usually wide-based and
  stiff legged
• Shakiness of torso and/or limbs, especially when
  upset

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Characteristics

• Irregular Breathing (hyperventilation, breath
  holding, apnea, air swallowing)
• EEG abnormalities
• Seizures
• Scoliosis
• Teeth grinding
• GI issues (reflux, constipation, poor nutrient
  absorption)

• Growth retardation, ?body fat and ? muscle mass
• Biting/Chewing/ Swallowing difficulties
• Poor circulation to legs and feet
• Decreased mobility with age
• Abnormal sleep patterns
• Irritability and agitation

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Etiology

• Sporadic mutations in a gene called MECP2,
  located on the X chromosome
• Studies have shown that more then 95 of
  mutations originate from a mutated sperm
• The MECP2 gene makes a protein, also called MeCP2
• believed to play a pivotal role in silencing
  other genes
• Scientists suspect that the inability to shut
  down specific genes causes the cascade of
  symptoms seen in RS
• lt1 occur more than once in a family
• gt99 are sporadic or spontaneous

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Etiology - severity of the symptoms

• X inactivation patterns play a significant role
• Females 2 X chromosomes
• Males 1 X chromosome
• For males and females to have same amount of
  genetic material, females must silence one of
  their X chromosomes in every cell
• Most Females have random inactivation pattern
• roughly activates 50 of one X and 50 of the
  other

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Etiology

• For reasons unknown, a female will skew one X
  over the other
• In RS, inactivation of the X chromosome with the
  mutated MECP2 will have less severe symptoms
• If the non-mutated X is inactivated will have
  more severe symptoms

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MECP2 Testing

• Initial diagnoses is usually done through
  clinical evaluation and patient history
• Blood tests can be used to screen for mutations
  in the MECP2 gene

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Rett Syndrome in Boys

• For almost all X-linked disorders (dominant or
  recessive), males are generally more severely
  affected than females due to females having a
  second X chromosome
• Females will have the features of Rett syndrome
• Males will either be aborted during the pregnancy
  or will have a very severe disorder leading to
  premature death

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Pathophysiology

• Affects 110,000 to 120,000 Females
• Development appears normal up to 6-18 months of
  age.
• The child typically sits independently and finger
  feeds at expected time
• Some children start the use of single words and
  word combinations
• Many children begin independent walking within
  normal range, while others show significant delay
  or inability to walk altogether

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Treatment

• No Cure For Rett Syndrome Yet
• Symptomatic treatment focusing on management of
  symptoms
• Multidisciplinary Team
• Medical Doctors, Physical Therapist, Registered
  Nurse, Registered Dietitian, Speech and Language
  Pathologist (swallow eval),etc

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Medical Treatment

• Medication may be needed for breathing
  irregularities, motor difficulties, and
  antiepileptic drugs for seizures
• Occupational therapy, physiotherapy, and
  hydrotherapy may prolong mobility
• Some children may require special equipment
• braces to arrest scoliosis, splints to modify
  hand movements, and nutritional programs to help
  them maintain adequate weight.
• Special academic, social, vocational, and support
  services may also be required in some cases.

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Stages of Development Stage I - Early Onset

• 6 months - 18 months
• Duration months
• Often overlooked, symptoms of RS just emerging
• Infant may show less eye contact and reduced
  interest in toys
• Often described as a good baby, calm and placid
• May be delays in gross motor milestones,
  decelerating head growth, and hand wringing

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Stage II - Rapid Destructive Stage

• Age 1 to 4 years
• Duration weeks to months
• Purposeful hand skills and spoken language lost
• Stereotypical hand movements begin (midline hand
  wringing, hand washing) (while awake, not sleep)
• Breathing irregularities
• episodes of breath holding or hyperventilation
  (normal _at_ sleep)

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Stage II - Continued

• May appear Autistic like with loss of social
  interaction and communication
• Irritable
• Sleep Irregularity
• Periods of Tremor
• Gait patterns uneasy
• Initiating motor movements difficult
• Slowing of head growth (Noticeable around 3
  months - 4 years)

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Stage III - Plateau Stage

• Age Preschool to School Years
• Duration years
• Apraxia, motor problems, and seizures more
  prominent
• Improvement seen in behavior
• Less irritability and crying, less autistic
  features
• Shows more interest in surroundings
• Alertness, attention span and communication
  skills improve
• Many remain in this stage for most of lifetime

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Stage IV - Late Motor Deterioration Stage

• Age When stage III ceases, 5-15-25? Years
• Duration up to decades
• Reduced Mobility
• Some girls stop walking (while others have never
  begun walking)
• No decline in cognition, communication, or hand
  skills
• Repetitive hand movements may decrease

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Stage IV - Late Motor Deterioration Stage

• Scoliosis
• Eye gaze improves
• Rigidity (stiffness) and dystonia (increased
  muscle tone with abnormal extremity or trunk
  positions) are characteristic
• Puberty begins at expected age

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Types of Seizures

• Tonic/Clonic (Grand Mal)
• Starts suddently
• Large convulsive, jerking, stiffness
• Tonic - stiffening phase
• Clonic - rhythmic jerking
• Absence Seizures (Petit Mal)
• Starts suddenly
• Brief staring spells
• head bobing blinking
• lasts a few seconds

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Seizures

• Myoclonic Seizures (minor motor)
• abrundt jerks of extremities
• hand or foot may kick out
• Akinetic/Atonic Seizures
• sudden myclonic seizure
• if standing child may become limp

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Medications - Anti-Seizure

• The Benzodiazepines (Valium, Klonipin, Tranzene
  andan Ativan) anticonvulsants
• caution with usage of a variety of herbs,
  chamomile, kava, echinacea
• Phenobarbital (Luminal)
• may cause decreased absorption of Folate,
  B-12,Vitamin D, Vitamin K, Calcium
• side effects are in behavior and learning. Other
  side effects include drowsiness, lethargy and
  hyperactivity, which can result in changes in
  behavior and learning.

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Medications - Anti-Seizure

• Carbamazepine (Tegretol)
• may cause decreased absorption of Vitamin D and
  Calcium
• Side effects include drowsiness, dizziness,
  blurred vision, lethargy, nausea/vomiting,
  incoordination, ? white blood count and
  ?platelets, ? of mood )
• Divalproex Sodium (Depakote) and Valproic Acid
  (Depakene)
• may cause decreased absorption of Vitamin D and
  Calcium
• Side effects include N/V, indigestion, sedation,
  dizziness, hair loss, tremor, incoordination,
  weight loss and/or gain, and changes in liver
  function.

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Medications - Anti-Seizure

• Phenytoin (Dilantin)
• may cause decreased absorption of Vitamin D,
  Vitamin K, Calcium, Magnesium.
• can cause allergic reactions, mood changes,
  lethargy, overgrowth of the gums, coarse facial
  features
• Side effects tremor, anemia, loss of
  coordination, double vision, N/V, confusion,
  slurred speech
• Levetiracetam (Keppra)
• No Drug/Nutrient Interactions
• Side effects include somnolence (sleepiness) and
  dizziness.

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The Ketogenic Diet

• What is the Ketogenic diet?- The ketogenic diet
  is a a high-FAT, low-CHO diet designed to
  increase the bodys reliance on fatty acids
  rather than glucose for energy
• Why would individuals with RS be on a Ketogenic
  Diet? -It has been used as a treatment for
  seizures
• Mechanism- is not widely understood, but it has
  been hypothesized that it may alter
  neurotransmitter levels among other theories
• When its used- It is used when RS individuals
  fail to respond to traditional anticonvulsants
• Problems with the Diet- Requires the
  parent/caregiver to have advanced nutritional
  knowledge and work closely with health care
  providers

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Nutritional Concerns

• When planning a feeding program things to
  consider
• Posture of the neck
• Ability to keep lips closed on food
• Defective chewing and swallowing
• Choking, involuntary obstructing movements
• Vomiting or regurgitation, excessive secretions
• Poor appetite dependence in feeding

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Nutritional Concerns

• Reasons for poor caloric intake
• swallowing difficulties
• Energy balance expenditures
• 90 of people with RS have mechanical feeding
  difficulties.
• 15 of individuals with RS have Gastroesophageal
  reflux (GER).

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Nutritional Concerns

• Gastroesophageal Reflux (GER)
• -reflux of stomach contents into the esophagus
• Complications
• Weight loss
• Minimizing GER
• -lying down or bending over after meals, wearing
  tight-fitting clothes, straining for bowel
  movements, eating the wrong foods at the wrong
  time or exercises.

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Nutritional Concerns

• Ways to improve nutritional status
• (depends on degree of malnutrition)
• Meals set at regular times
• Meals supplemented with frequent high energy
  snacks
• Nasogastric tube- used for temporary means only.
• Gastrostomy (G- button)
• - both Nasogastric and Gastrostomy have been
  associated with increased height, weight and
  alertness.

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Nutritional Concerns

• Vitamins and supplements
• Vitamins
• Vitamin D, Calcium, Iron, and zinc.
• Vitamin D and calcium requirements are increased
  due to medication interaction between anti-
  convulsant (carbamazapine) drug used commonly
  with RS patients. This is related to bone
  metabolism resulting in osteoporosis.
• Supplement formulas
• To increase energy intake
• Ex. Ensure, Pediasure, and Carnation Instant
  Breakfast

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Nutritional Concerns

• Cause of increased nutritional needs
• Abnormal protein metabolism and hormones that
  regulate this process.
• Increased protein catabolism in the body leads
  to
• Muscle wasting, protein insufficiency
• Decreased lean body mass
• Increased rates of AA oxidation
• Increased rates of urea nitrogen
• studies are underway to discover mechanisms
  behind muscle wasting and may help reverse growth
  failure and muscle wasting.

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Nutritional Concerns

• Increased Energy Needs
• Breathing- increased calories needed for
  hyperventilation
• Hand movements- more calories are burned because
  of repetitive hand movements.

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Nutritional Concerns

• Goals for feeding plan
• Improving nutritional status
• Promoting wt. gain and linear growth
• Develop/ enhance feeding skills
• Reduce feeding time
• Decrease constipation

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Fluid Needs

• Difficulties swallowing and sucking, and drooling
  increases fluid needs

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Fluids Ideas

• Distribute fluids evenly throughout day
• Request school to provide minimum amount
• Thicken fluids to make drinking easier for those
  with swallowing problems
• Provide Foods that are liquid at room temperature
• jello, popsicles, ice cream
• Include lots of vegetables and fruits
• Humidifier in bedroom when weather is warm
• Avoid excess salt

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Constipation

• Generally have Chronic Constipation
• Due To
• lack of physical activity, poor muscle tone,
  diet, drugs, inadequate fluids, and scoliosis
• Recommendations
• Increase fluid needs, increase fiber intake,
  provide laxative fruit/veg (pears, prunes,
  apricots, squash),Limit (bananas, white rice,
  carrots), whole grains, have girls sit on the
  toilet at specific time every day, suppositories
  and laxatives

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Group Activity Plan a Meal

• Using the recommendations we have provided
• Develop a meal plan for Lisa!
• Group 1 Breakfast
• Group 2 Lunch
• Group 3 Dinner

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PES

• Low weight and slow-weight gain related to
  characteristics of Rett Syndrome as evidenced by
  excellent appetite but lack of weight gain

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Plan

• Provide 3 meals plus 2 snacks daily
• Provide ample high fat foods
• Provide dietary supplement drinks at meals or
  snack
• Resource, Ensure, CIB, milkshakes
• Increase Fat and CHOs in food
• add oil, creams, butter to food
• Provide Whole Milk
• Provide Easy to Chew Foods

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Plan Continued

• Provide Additional Fiber
• Provide additional Vitamin D, K, B-12, Folate,
  and Calcium to make up for Drug/Nutrient
  Interaction

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Lisas Growth Charts

• Stature for Age is on the 10 tile
• weight for age is gt 5 tile
• BMI gt 5tile
• Head Circumference

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Physical Activity

• Swimming
• Horseback riding
• Walking
• Wheelchair hiking
• Light- aerobic stretching
• Skiing using a uni-ski
• Riding a tricycle
• Swing
• Blowing bubbles
• Music therapy
• Tossing a ball

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International Rett Syndrome Association - Mission

• To support and stimulate biomedical research that
  will determine the cause and find treatments and
  cures for Rett syndrome
• To increase public awareness of Rett syndrome
• To provide informational and emotional support to
  families of children with Rett syndrome

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Summary

• Five year old Lisa was born with a devastating
  syndrome that will effect the rest of her life.
  Treatment of RS is a multidisciplinary approach
  which requires a highly involved
  family/caregivers, the childs physician,
  occupational, physical therapist, and RD that
  specialize in Rett Syndrome. There are many
  nutritional complications related to Rett
  Syndrome such as feeding difficulties, increased
  metabolism, protein catabolism, and increased
  vitamins and minerals needs. Although there have
  been some amazing discoveries such at the MECP2
  Gene in 1999 further research is needed on Rett
  Syndrome, to fully understand the mechanisms of
  this syndrome

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The Heros Path Video

• http//video.google.com/videoplay?docid7014091294
  332456510qTheHero27sPathpltrue

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References

• Hunter, Kathy. The Rett Syndrome Handbook. IRSA,
  1999.
• www. Rettsyndrome.org
• http//www.rettsyndrome.org/content.asp?pl135sl
  795contentid795
• www.rsrf.com
• http//www.ninds.nih.gov/disorders/rett/rett.htm
• www.rsrf.org