Smith Magenis Syndrome

Report
Smith Magenis
Syndrome
By: Shannon Miller
What is SMS?
• Smith-Magenis syndrome (or SMS) is a
chromosomal disorder characterized by a
recognizable pattern of physical, behavioral, and
developmental features.
• It is caused by a missing piece of genetic
material from chromosome 17.
SMS Info.
• Incidence
– It is estimated that SMS occurs in 1 out of 25,000 births.
• Diagnosing
– Cytogenetics labs perform blood tests called chromosome analysis
and utilize a technique called FISH.
• FISH is a technique or process which paints chromosomes or portions
of chromosomes with fluorescent molecules.
• Fact
– SMS usually does not run in families
– Not inherited by either parent
Physical Characteristics
• Facial Appearance
– Flattened mid-face
– Turned down mouth
– Prominent jaw
• Other Characteristics
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Low Muscle Tone
Oral-sensory motor dysfunction
Middle ear problems
Hoarse voice
Short fingers and toes
Flat feet
Distinct, broad-based gait (walking pattern)
Decreased sensitivity to pain
Developmental Features
• Developmental Characteristics
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Developmental Delays
Mental retardation (mild - moderate)
Mouthing objects or hands that persists beyond early childhood
Speech delay and articulation problems
Sensory integration issues
Teeth grinding
Delayed toileting skills
Sleep Disturbances
• Frequent night time awakenings
• Increased day time sleepiness
• Early morning awake times
Behavioral Characteristics
• Self-injurious behaviors
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Head banging
Hand biting
Picking at skin, sores and nails pulling off finger
Inserting foreign object into ears, nose or other body orifices.
• Maladaptive Behaviors
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Hyperactivity
Impulsivity
Attention seeking (especially from adults)
Easy excitability or distractibility
Sudden mood shifts
Explosive outbursts
– Prolonged tantrums; and aggressive or destructive behavior
Other Features
• More Common Features 50%-75% (affected individuals)
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Hearing impairment
Short stature (especially in early childhood)
Scoliosis
Eye problems
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Strabismus (an eye that turns in or out)
Myopia (nearsightedness)
Small cornea
Iris anomalies
• Less Common Features 25%-50% (affected individuals)
– Congenital heart defects / murmurs
– Lowered immune function
– Seizures
– Thyroid function abnormalities
Social Characteristics
• Thrives on interacting with adults. (Especially 1 on 1)
• Loves meeting new people however struggles making friendships.
• Easily agitated by others and stressful situations.
• Negative Behaviors get in the way of forming long term
friendships/relationships.
• Anxiety about upcoming events or things going on around them can
trigger explosive behaviors.
Education
• Attributes that negatively affect
learning
• Attention seeking
• Aggression toward others
• Tantrums
• Self-injurious behavior
• Poor impulse control
• Negative reaction to changes in routine
• Attention deficit disorder
• Perseveration
• Sleep Disturbance
Education Cont.
• Attributes that positively affect learning
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Engaging and enduring personality
Appreciative of attention, excitable
Responsive to structure and routine
Motivated by a variety of reinforcers
Eager to please
Communicative
Enjoys a variety of activities
Fascination with electronics
Well developed sense of humor
Identifiable causes of tantrums and aggression
Contraindicators
• Things to Avoid
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Stressful Situations.
Activities that are complicated or have many instructions.
Change
Quick instruction
Contact Activities
Bully’s
Social put downs
Injury to self
Managing Behaviors
• Prevention
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Learning the triggers
Remain non-confrontational
Positive feedback is a must
Use pictures if needed to help avoid frustration
• Redirection
– Focus on anything other than what is upsetting
them.
– Must take place before behavior escalates
– Using humor seems to be very affective
• Physical Attention
– Hugs
– Sensory
• Brushing
• Warm baths
• Spinning in an office chair
Managing Behaviors Cont.
• Switching Out
• Visual Cues
– Often times very visual learners.
• Reasoning and Behavior Modification
– Rewards for doing something or for good behavior
• Important Note
– Children with SMS, regardless of age or developmental level,
are notoriously clever. They quickly learn how to manipulate
others and “push our buttons.”
Treatments
• Treatments are linked to
experimental findings.
• The use of psychotropic
medication may help to
increase attention and/or
decrease hyperactivity.
•Common Medications
•Melatonin
•Trazadone
•Risperdal
•Depakote
•Ambien
• Other medications are
sometimes used for behavior
modification.
Assistive Technology/Modifications
• Assistive Technology
•Modifications
•Modify equipment to fit students
needs.
•Activities should be modified
based on the ability of the
student.
•Lessons should be modified to
avoid frustration and also to
allow the student to be
successful.
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Pictographs
Glasses
Hearing aids
Wedges
Activities
• Students should participate in the
mainstream class as much as possible as
long as they are able to be successful.
• They should receive Adapted Physical
Education to work on basic fundamental
skills.
Resources
• Prisms Website
– http://www.smithmagenis.org
• Genetics Home Reference
– http://ghr.nlm.nih.gov
• Disorder Zone Archives
– http://www.specialchild.com/archives/dz-027.html

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