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Rett Syndrome

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Christina Vargo-Sanchez

on 24 November 2014

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Transcript of Rett Syndrome

Rett Syndrome
Christy Vargo-Sanchez, OTS
Key Features

Braces for Scoliosis
Splints to modify hand movements
Toileting equipment may include a bedside commode, raised toilet seat, and grab bars in the restroom
Ankle-foot orthoses, canes, crutches, wheelchairs may be recommended for ambulation and functional mobility
What is Rett Syndrome?
A progressive postnatal neurological disorder
Primarily affects
DX typically in early development years.
A child will generally be born with normal development & at
6-18 months
it becomes stagnant or slows down
It is an
Often misdiagnosed with CP or ASD
Stages of Rett Sydrome
Etiology & Prevalence
Signs & Symptoms
Common Functional Impairments
Medical Management
OT Role
Medical Management
More than 99.5% of RS occurs 1x in families.
Interdisciplinary Treatment:
Occupational Therapy
Physical Therapy
Speech Therapy
Registered Dietician
Medical Doctor
Psychologist/Social Worker
Additional TX's: Hydrotherapy, Hippotherapy, Music Therapy, Massage Therapy
Taken to help with the symptoms like breathing irregularities, seizures and muscle stiffness.
Bromocriptine: test trials with patients have been used to improve relaxation and communication skills
L- carnitine: which may help improve language skills, muscle mass, alertness, energy and quality of life while decreasing constipation and daytime sleepiness
L-dopa: for motor rigidity in later stages of the disease

Signs & Symptoms
Common Functional Impairments
Sensory Approach:
Berryman D and Barrett L. (2002). Hand management in Rett Syndrome. Rett Syndrome Association of Australia (RSAA) Newsletter July 2002.
Kubas E (1992). Use of splints to develop hand skills in a woman with Rett Syndrome. The American Journal of Occupational Therapy 46(4); 364 – 368.
Naganuma G and Billingsley F (1988). Effect of hand splints on stereotypic hand behaviours of three girls with Rett Syndrome. Physical Therapy 68 (5), 664-671
Tuten H and Miednaer J (1989). Effect of hand splints on stereotypic behaviour of girls with Rett Syndrome: A replication study. Physical Therapy 69 (12), 1099 – 1103.
Woodyatt, G., & Sigafoos, J. (2000). Effects of amount and type of social interaction/activity on stereotyped hand mannerisms in individuals with Rett syndrome. Australasian Journal of Special Education, 23, 15-24.
Encourage functional hand use:
Sensory input for hands (massage, exposure to a variety of textures)
Apraxia and ataxia
Weighted vests can be calming and can decrease ataxia
Use of a therapy ball
Rotation and weight-shift activities
Vestibular movement activities (if tolerated)
Positioning for safety (eg during mealtimes) and tone reduction
Tone reduction activities such as rotation, weight-shift, vibration can temporarily reduce spasticity
Positioning to ensure a symmetrical and erect posture in sitting (as far as possible)
Swallowing/ Feeding
referral to certified OT for dysphagia
can address appropriate positioning for feeding and posture
caregiver may need training on feeding tubes (if needed)
OT Suggestions & Ideas
Assistive Devices/ Adaptive Equipment
Splints can position thumb for grasp
Wheel chairs for functional mobility
Adapt materials to make easier to grasp
Consider cuffs and loops to assist with grasp, cut-out cups
Eye-Gaze Technology for communication
Switches for independence and leisure / pleasure
It is determined by the



severity of the mutation

Diagnostic Criteria:
period of

normal development

until 6-18 months
slowing in rate of
head growth

after birth
purposeful hand use is replaced with
stereotypical hand movements
(flapping, patting, squeezing)
loss of


may lose in ability to


(if able to walk, gait is usually wide-based and stiff)
"The pathologic process in Rett syndrome is a failure of
neuronal maturation
, involving the structural, chemical, and functional aspects of maturation."
(Kerr & Burford, 2001).
(Renieri, et al., 2013).
RS strikes all racial and ethnic groups.
Sex-linked but not hereditary.
children and women are affected within the United States .
(Anderson, Wong, Jacoby, Downs, & Leonard, 2014).
(Moeschler, Charman, Berg, & Graham, 1988).
Abnormal sleep patterns
Ataxia & Apraxia
Biting/Chewing difficulties & Dysphagia
GI issues (reflux, constipation, bowel/bladder incontinence, poor nutrient absorption)
Irregular breathing patterns (breath holding, apnea)
Irritability & agitation
Self-injurious behavior
Severe to profound intellectual disability
Stereotypic hand movements: hand-wringing & washing
Unusual eye movements

Occupational Profile
Evaluation & Assessment
Include family in goal-making
Increase independence by enhancing and maintaining movement
Preventing decline in their functional abilities by maximizing hand use
Address meaningful occupations
ADL's/ IADL's: dressing, feeding, grooming, self-care
Sensory diet for home & school
Recommendations or AE & AT
Play & Social engagement
Address Psychosocial
Caregiver training
(Downs et al., 2013).
(Kerr & Burford, 2001)
Bathing & Showering
Toileting & Toilet Hygiene
Functional Mobility
Feeding & Eating
Personal Hygiene & Grooming
Play Exploration & Participation
Leisure Participation
Communication Management
Safety & Emergency Maintenance
Education Participation
Social Participation

Many girls with RS expect to live into
middle age. (40-50 years)

Researchers are still following women with the disease, which was only widely recognized in the

past 20 years.

Rett syndrome is a lifelong condition.

Girls and women with Rett syndrome will

rarely be able to live independently.

• Support System • Tips from Families • Equipment Exchange • Diet/Nutrition Resources • Events/Fundraisers • Research updates for a cure

improved ability to emotionally regulate
decreased need to self- injury
emotional regulation
improved attention
spontaneous expression of new skills
improved social skills
decreased fear and anxiety
improved ability to experience joy & fun

A vibrator or hand massage can help reduce stereotyped hand movements and reduce spasticity temporarily and increase functional hand use to prepare for an activity.

Sensory Box
Get a plastic sandbox from store. Fill with millet, or short grain rice. Put a variety of sensory items in box. Helps with tactile discrimination, stereognosis, facilitates and encourages exploration & play.

Shaving Cream Play
Tactile & fine motor activity and can also be done in the bathtub for easier cleanup.

Integrate music with activities that your child enjoys to help keep her attention for longer periods of time & motivate her. Will help increase level of awareness, can promote relaxation, and help facilitate hand movement to rhythm or beat.

Neoprene Vests/Wraps
These are vests are stretchy, fit snuggly, and can have the calming effect of weighted vests without the added weight for proprioceptive input.
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