Angelman Syndrome

Angelman Syndrome is often missed diagnosed as Autism.

What is Angelman Syndrome?
Angelman syndrome is a chromosomal (gene-linked) disease that causes
neurological problems. The physician Harold Angelman first identified the
syndrome in 1965, when he described several children in his practice as
having "flat heads, jerky movements, protruding tongues, and bouts of
laughter." Infants with Angelman syndrome appear normal at birth, but begin
to have feeding problems at 1-2 months and noticeable developmental
delays by 6 to 12 months. Seizures may often begin before the age of 3
years. Speech impairment is pronounced, with little to no use of words. The
syndrome is also characterized by hyperactivity, small head size, and
movement and balance disorders that can cause severe functional deficits.
Angelman syndrome is the result of the deletion or inactivation of a particular
series of genes that regulate a protein called ubiquitin (UBE3A) on
chromosome 15q11-13. The majority of cases of Angelman syndrome are
inherited (via maternal transmission of an abnormal chromosome) but others
appear to be the result of genetic mutations from unknown causes. The
extent and variety of symptoms vary depending on the specific gene(s)
involved.
(Source: National Institute of Neurological Disorders & Strokes)

Characteristics
Angelman Syndrome (AS) is characterized by severe developmental delay or
mental retardation, severe speech impairment, gait ataxia and/or
tremulousness of the limbs, and a unique behavior with an inappropriate
happy demeanor that includes frequent laughing, smiling, and excitability.
Microcephaly (mi·cro·ceph·a·ly, Abnormal smallness of the head). Also called
nanocephaly and seizures are common. Developmental delays are first
noticed at around six months of age. Rate of occurrence about one in 12,000
- 20,000. May also be misdiagnosed as Rhetts syndrome, Cerebral palsy,
autism, or Prader-Willi Syndrome.

Issues you might face
Many newborns may require special nipples due to feeding problems.
Although many of us did not realize it was an issue at the time. Physical and
Occupational Therapy may be required. The early you start therapy the
better the out come. Speech therapy is equally as important. Work on muscle
tones and jaw function. A good speech therapy will work on stretching the
muscles, tongue, and decrease the sensitivity in the mouth. Will help with any
eating issues. A good therapist will also ask you about communication
options. We strongly encourage the use of PECS (Picture Exchange
Communication System) www.pecs.com Boardmaker is another good option.
www.mayer-johnson.com The sooner you can start using a program like
these the easily life will be for your child.
An augmentative device is another option. Remember, that many school
systems offer the augmentative device. Try out many. They all have their
pros and cons.Sign language is also an option. Just remember that many
people do not use it, including police, fire, EMS. So
they wouldn't be able to communicate with your child. Many AS children have
problems with walk, their feet, and even muscle tone. A good Physical
therapist (PT) will let you know if an orthotic is necessary. These are nothing
more than braces for the feet. A PT should also be able to tell you if your
child has or is developing scoliosis. This is extremely important to keep an
eye on. Scoliosis is a curvature in the spine. If left alone can cause a lifetime
of problems. A yearly visit to an orthopedic doctor is never a bad idea for
kids with AS. Make sure they take x-rays, even if the doctor say there are no
problems. This way you will have a way to compare in the years to come.

Diet
Many AS children find benefit from a special diet. We strongly urge parents
to have an allergy test done both for environmental allergens as well as
foods. Either by a Licensed M.D., or allergist, or by a homeopathic. Once this
is done omit all of those foods. Many AS children benefit from following a diet
such as the GFCF (Gluten Free/Casin Free) that many autistic children
follow. There is a page on out website about the diet. A great website
is www.gfcfdiet.com. The woman who runs that site knows much more than I
do.

Diagnosis
Parents usually notice something is "different" about their children around six
months of age. At this point you should see a pediatrician and request a
referral to a genetics specialist. Many test will need to be run. These test
may include, but are not limited to: Fish annalist,(Fluorescent in Situ
Hybridization) this will identify a depletion in gene 15. Chromosome study,
Fragile X chromosome testing. (This will rule out fragile X syndrome) A
comprehensive metabolic test, DNA methylation analysis, heavy metal testing
(many children both with autism and AS have high levels of chemicals and
heavy metals such a mercury in their bodies), full blood work up. Again, a
doctor may order other test.

Traits individuals might have:
~Normal pregnancy, and birth.
~Delayed developmental milestones without loss of skills
~Normal MRI
~Notable developmental delays by six months to twelve months of age
~Minimal speech or no speech, receptive language skills and nonverbal
communication skills are higher than
~Expressive language
~May laugh or smile for no reason, very happy, social, excitable
~May have issues with movement, walking, sitting
~Slow head growth
~Poor sleeping habits
~Attracted to water
~Arms are up when walking
~Sucking, or swallowing issues, excessive chewing, mouthing, drooling
~Seizures

Prognosis
The Alexis Foundation refuses to give any grim out looks. No one can tell
what the future holds. All children no matter what the disability will have
different outcomes. I can tell you from years of working with my own child as
well as others that like anything...the more you put into it, the more you get
back. A parent who is determined benefits a child more than one who throws
in the towel. It is hard work, but what you get back in return is priceless!

Links that might be useful:
For current information about current and past clinical trials.
Clinical Trials

Info on research papers.
Research Literature

Angelman Syndrome Foundation
3015 E. New York Street
Suite A2265
Aurora, IL 60504
info@angelman.org
Angelman Syndrome
Tel: 630-978-4245
Fax: 630-978-7408

Prader-Willi Syndrome Association
5700 Midnight Pass Road
Suite #6
Sarasota, FL 34242-3000
national@pwsausa.org
Prader-Willi Syndrome
Tel: 941-312-0400 800-926-4797
Fax: 941-312-0142

Angelman Syndrome Electronic Mailing List

Yahoo! Group for Angelman


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Angelman Syndrome

Incidence Rate
estimates.estimates.

Things to watch for:

Developmental delay evident by
6 - 12 months of age

Delayed but forward progression
of development (no loss of skills)

Normal metabolic, hematologic
and chemical laboratory profiles

Overly happy child. Laughs a lot.

~ IEP ~ GFCF Diet ~ Vitamins&Minerals~
~ Florida Medwaiver ~ Florida Resources ~ Links ~