This document provides information about Angelman syndrome, including what it is, its symptoms, diagnosis, and characteristics. Angelman syndrome is a rare genetic disorder occurring in about 1 in 15,000 births that is often misdiagnosed as cerebral palsy or autism due to lack of awareness. It causes developmental delays, lack of speech, seizures, and walking/balance issues. A blood test can diagnose around 80-85% of individuals by identifying issues with the UBE3A gene. Consistent characteristics include developmental delay, lack of speech, movement disorders, and a happy demeanor.

1. DOES DIAGNOSES
MATTER?
PRESUME COMPETENCE! ALWAYS!

2. ANGELMAN
SYNDROME

3. 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.
SYMPTOMS
Developmental delays – vary from
individual to individual
Seizures
A happy demeanor – frequent laughing,
smiling and excitability
In infants 0-24 months:Lack of cooing or
babbling
Inability to support one’s head, pull
oneself up to stand, and delayed motor
skills
In young children:
Lack of speech, although some develop
the ability to speak a few words
Delayed ability to walk, unstable gait or
balance issues
DIAGNOSIS
A 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.

5. 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

6. 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

7. 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

10. Rosa's Law
Intellectual 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”

11. 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.

12. 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

13. UNCONDITIONAL POSITIVE REGARD
(UPR)
CONTINGENT VS NONCONINGENT INTERACTIONS

14. 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

15. 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”)

18. 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.

19. 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.

20. 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

22. 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

23. THANK YOU!
CONTACT INFORMATION
RITA MOLINO
716-380-5515
RITASELL3@YAHOO.COM
RESOURCES:
CUREANGELMAN.NET
ANGELMAN.ORG
ritamolino.blogspot.com