Smith Magenis Syndrome

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 • 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 • 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 • Assistive Technology • 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 • http://www.smithmagenis.org • Genetics Home Reference • http://ghr.nlm.nih.gov • Disorder Zone Archives • http://www.specialchild.com/archives/dz-027.html