Angelman Syndrome

This has been a new disability area that I have never heard of, until I started working with a wonderful boy who has it.  Everyday can be a challenge, but that's what makes the fun.  Since, I was unaware of this type of disability, I wanted to share some information about it with you guys.

What is Angelman Syndrome?

Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter."

What are the characteristics, signs, and symptoms of Angelman syndrome?

• Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months.
• Seizures often begin between 2 and 3 years of age.
• Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits.
• Angelman syndrome results from absence of a functional copy of theUBE3A gene inherited from the mother.

Is there any treatment for Angelman syndromes

There is no specific therapy for Angelman syndrome. Medical therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.

What is the prognosis for Angelman syndrome?

Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.

Some Facts:

Angelman syndrome is a genetic disorder with characteristic features that include severe speech impairment, developmental delay, intellectual disability, and ataxia (problems with movement and balance)

Angelman syndrome is named after the physician Harry Angelman who first delineated the syndrome in 1965.

Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.

Most children with Angelman syndrome have microcephaly (small head size) and epilepsy (recurrent seizures)

The developmental delay of Angelman syndrome generally becomes noticeable by the age of 6 to 12 months

Adults with Angelman syndrome have facial features that are distinct and are often described as "coarse.

Some of the characteristic features of Angelman syndrome are a result from the loss of function of a gene called UBE3A

The life expectancy for individuals with Angelman syndrome appears to be nearly normal.

Best Practices in Education

What does the term “Best Practices” mean?  It can be defined as “what works” in a particular environment or situation.   Grover J. Whitehurst, as assistant secretary for Educational Research and Improvement at the U.S. Department of Education in 2001, defined evidence-

BEST PRACTICES                                                                                                               

based education as “the integration of professional wisdom with the best available empirical evidence in making decisions about how to deliver instruction.”  The application of educational theory and research to make decisions for a child’s education involves more than how to deliver instruction, it also involves decision making for assessments and placement not just instruction.

            According to the State Education Resource Center (www.ctserc.org) there are nine standards to assess Best Practices:

1.       A Clear and Common Focus;  Administrators, teachers, students, and parents share and commit to clearly articulated and understood common goals based on the fundamental belief that all students can learn and improve their performance.  There is clear evidence of school practices to support this belief

2.      High Standards and Expectations:  Each teacher believes “all students can learn and I can teach them.” Staff members are dedicated to helping every student achieve challenging state and local standards.  All students are engaged in an appropriately ambitious and rigorous course of study in which the high standards of performance are clear and consistent and the conditions for learning are modified and differentiated.  This results in all students being prepared.

3.      Strong Leadership: School leadership is focused on enhancing the skills, knowledge, and motivation of the people in the organization and creating a common culture of high expectations based on the use of skills and knowledge to improve the performance of all students. Leadership fosters a collaborative atmosphere between the school and the community while establishing positive systems to improve leadership, teaching, and student performance.

4.      Supportive, Personalized Relevant Learning:  Supportive learning environments provide positive personalized relationships for all students while engaging them in rigorous and relevant learning.

5.      Parent/Community Involvement:  Parents and community members help develop, understand, and support a clear and common focus on core academic, social, and personal goals contributing to improved student performance and have a meaningful and authentic role in achieving these goals. The school community works together to actively solve problems and create win-win solutions. Mentoring and outreach programs provide for two-way learning between students and community/business members.

6.      Monitoring, Accountability, and Assessment:  Teaching and learning are continually adjusted on the basis of data collected through a variety of valid and reliable methods that indicate student progress and needs. The assessment results

BEST PRACTICES                                                                                                               

7.      are interpreted and applied appropriately to improve individual student performance and the instructional program

8.      Curriculum and Instruction:  Align curriculum with core learning expectations to improve the performance of all students. Students achieve high standards through rigorous, challenging learning. Staff delivers an aligned curriculum and implements research-based teaching and learning strategies. Students are actively involved in their learning through inquiry, in-depth learning, and performance assessments.

9.      Professional Development:  Ongoing professional development aligned with the school’s common focus and high expectations to improve the performance of all students is critical in high-performing schools. These professional development offerings are focused and informed by research and school/classroom-based assessments. Appropriate instructional support and resources are provided to implement approaches and techniques learned through professional development.

10.  Time and Structure:  Flexibly structured to maximize the use of time and accommodate the varied lives of their students, staff, and community in order to improve the performance of all students. The structure of programs extends beyond the traditional school day and year as well as beyond the school building. The program draws on the entire community’s resources to foster student achievement.

Also, another book I have found to be very helpful is:  "Angelman Syndrome" by: Bernard Dan