1. Smith Magenis Syndrome
By: Shannon Miller

2. 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.

3. SMS Info. Incidence Diagnosing Fact
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

4. Physical Characteristics
Facial Appearance
Flattened mid-face
Turned down mouth
Prominent jaw
Other Characteristics
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

5. Developmental Features
Developmental Characteristics
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

6. Behavioral Characteristics
Self-injurious behaviors
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
Hyperactivity
Impulsivity
Attention seeking (especially from adults)
Easy excitability or distractibility
Sudden mood shifts
Explosive outbursts
Prolonged tantrums; and aggressive or destructive behavior

7. Other Features More Common Features 50%-75% (affected individuals)
Hearing impairment
Short stature (especially in early childhood)
Scoliosis
Eye problems
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

8. 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.

9. 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

10. Education Cont. Attributes that positively affect learning
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

11. Contraindicators Things to Avoid Stressful Situations.
Activities that are complicated or have many instructions.
Change
Quick instruction
Contact Activities
Bully’s
Social put downs
Injury to self

12. Managing Behaviors Prevention Redirection Physical Attention
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

13. 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.”

14. Treatments Treatments are linked to experimental findings.
The use of psychotropic medication may help to increase attention and/or decrease hyperactivity.
Other medications are sometimes used for behavior modification.
Common Medications
Melatonin
Trazadone
Risperdal
Depakote
Ambien

15. Assistive Technology/Modifications
Pictographs
Glasses
Hearing aids
Wedges
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.

16. 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.

17. Resources Prisms Website Genetics Home Reference
Genetics Home Reference
Disorder Zone Archives