DOES DIAGNOSES MATTER?PRESUME COMPETENCE! ALWAYS!

ANGELMAN SYNDROME

ANGELMAN SYNDROME (AS)

WHAT IS IT?Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy or autism due to lack of awareness. Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

SYMPTOMSDevelopmental delays – vary from individual to individualSeizuresA happy demeanor – frequent laughing, smiling and excitabilityIn infants 0-24 months:Lack of cooing or babblingInability to support one’s head, pull oneself up to stand, and delayed motor skillsIn young children:Lack of speech, although some develop the ability to speak a few wordsDelayed ability to walk, unstable gait or balance issues

DIAGNOSISA blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene is functioning properly.

For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis.

Consistent Characteristics (100%)

Developmental delay, functionally severe Speech impairment, none or minimal use of words;

receptive and non-verbal communication skills higher than verbal ones

Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs

Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span

Frequent Characteristics (more than 80%)

Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2

Seizures, onset usually < 3 years of age Abnormal EEG, characteristic pattern with large amplitude slow-

spike waves (usually 2-3/s), facilitated by eye closure

Associated Characteristics (20 - 80%) Flat occiput (back of head)

Protruding tongue

Tongue thrusting; suck/swallowing disorders

Feeding problems during infancy

Prognathia (projecting jaw)

Hypopigmented skin and eyes

Wide mouth, wide-spaced teeth

Frequent Drooling

Excessive chewing/mouthing behaviors

Strabismus

Hypopigmented skin, light hair and eye color (compared to family), seen only in deletion cases

Hyperactive lower limb deep tendon reflexes

Uplifted, flexed arms during walking

Increased sensitivity to heat

Sleep disturbance

Attraction to/fascination with water

Rosa's LawIntellectual Disability Terminology Changes. May

29, 2013 By. On October 5, 2010, President Obama signed legislation requiring the federal

government to replace the term “mental retardation” with “intellectual disability”

The diagnostic term 'mental retardation' is finally being eliminated in the upcoming international classifications of diseases and disorders. The term 'mental retardation' was introduced by the American Association on Mental Retardation in 1961 and soon afterwards was adopted by the American Psychiatric Association (APA) in its Diagnostic and Statistical Manual for Mental Disorders (DSM-5).[1,2] Mental retardation replaced older terms such as feeblemindedness, idiocy, and mental subnormality that had become pejorative. Now, over 5 decades later, the term 'mental retardation' is being eliminated for similar reasons.

PRESUME COMPETENCE!ALWAYS!!

RECEPTIVE LANGUAGE VS. EXPRESSIVE LANGUAGE FIND THE BALANCE OF PUSHING BEYOND AND KNOWING WHEN

TO STOP… SET HIGHER EXPECTATIONS LISTEN AND PAY ATTENTION TO ALL FORMS OF COMMUNICATION OFFER AND EXPECT MORE THAN YES/NO AND MAKING CHOICES

WITH AAC START A CONVERSATION MY SON MAY NOT SPEAK BUT HE HAS MUCH TO SAY

UNCONDITIONAL POSITIVE REGARD

(UPR)CONTINGENT VS NONCONINGENT INTERACTIONS

UNCONDITIONAL POSITIVE REGARD (UPR)

CONTINGENT Great job making a choice Thank you for putting your

listening ears on Wonderful job lining up for gym

today Way to go on getting every

problem correct

Human Doing

NONCONTINGENT How was your trip to Florida? How is your mom? What’s your dog’s name? Have a great weekend Say hello to your brothers for me I saw the game Friday, your

brother did a great job! Great game last night. I had fun

watching you get that hit! Human Being

Learning Through Many Kinds of Intelligence

INTELLIGENCE IS NOT ONE DIMENSIONAL Dr. Howard Gardner has created a Theory of Multiple Intelligence

Naturalist Intelligence (“Nature Smart”) Musical Intelligence (“Musical Smart”) Logical-Mathematical Intelligence (Number/Reasoning Smart) Existential Intelligence Interpersonal Intelligence (People Smart”) Bodily-Kinesthetic Intelligence (“Body Smart”) Linguistic Intelligence (Word Smart) Intra-personal Intelligence (Self Smart”) Spatial Intelligence (“Picture Smart”)

FIVE COMPONENTS OF EMOTIONAL INTELLIGENCE

Self-awareness. The ability to recognize and understand personal moods and emotions and drives, as well as their effect on others. Hallmarks* of self-awareness include self-confidence, realistic self-assessment, and a self-deprecating sense of humor. Self-awareness depend on one's ability to monitor one's own emotion state and to correctly identify and name one's emotions.

Self-regulation. The ability to control or redirect disruptive impulses and moods, and the propensity to suspend judgment and to think before acting. Hallmarks include trustworthiness and integrity; comfort with ambiguity; and openness to change.

FIVE COMPONENTS OF EMOTIONAL INTELLIGENCE

Internal motivation. A passion to work for internal reasons that go beyond money and status -which are external rewards, - such as an inner vision of what is important in life, a joy in doing something, curiosity in learning, a flow that comes with being immersed in an activity. A propensity to pursue goals with energy and persistence. Hallmarks include a strong drive to achieve, optimism even in the face of failure, and organizational commitment.

Empathy. The ability to understand the emotional makeup of other people. A skill in treating people according to their emotional reactions. Hallmarks include expertise in building and retaining talent, cross-cultural sensitivity, and service to clients and customers. (In an educational context, empathy is often thought to include, or lead to, sympathy, which implies concern, or care or a wish to soften negative emotions or experiences in others.) See also Mirror Neurons.

FIVE COMPONENTS OF EMOTIONAL INTELLIGENCE

Social skills. Proficiency in managing relationships and building networks, and an ability to find common ground and build rapport. Hallmarks of social skills include effectiveness in leading change, persuasiveness, and expertise building and leading teams

PUTTING IT ALL TOGETHER

YES DX MATTERS. However, be careful to not fall into the ‘if only’ syndrome. What is the If Only syndrome? Glad you asked!

PRESUME COMPETENCE! ALWAYS! PUT SUPPORTS IN PLACE. MEET THE NEEDS OF THE CHILD AND

WATCH HIM/HER SHINE! INTELLIGENCE IS NOT ONE DIMENSIONAL. LOOK AT TREATING THE WHOLE CHILD! UPR DON’T EVER GIVE UP BE FEARLESS

THANK YOU!CONTACT INFORMATION

RITA MOLINO716-380-5515

RITASELL3@YAHOO.COM

RESOURCES:

CUREANGELMAN.NETANGELMAN.ORG

ritamolino.blogspot.com