Skip to main content

Angelman Syndrome

Angelman Syndrome (AS) is a neuro-genetic disorder that occurs in 1 in 15,000 live births. AS is often misdiagnosed as cerebral palsy or autism.  In most cases, AS is not inherited.  A child is born missing a segment of their maternal 15th chromosome.
Characteristics of AS include; developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman Syndrome will require life-long care.

Diagnostic Criteria for
Angelman Syndrome
• Developmental delay, functionally severe (100%)
• Speech impairment, none or minimal use of words; receptive and nonverbal
communication skills higher than verbal ones (100%)
• Movement or balance disorder, usually ataxia of gait and/or tremulous
movement of limbs (100%)
• Behavioral uniqueness: any combination of frequent laughter/smiling;
apparent happy demeanor; easily excitable personality, often with hand
fl apping movements; hypermotoric behavior; short attention span (100%)
• Delayed, disproportionate growth in head circumference, usually resulting
in microcephaly (absolute or relative) by age 2 (80%)
• Seizures, onset usually <3 years of age (80%)
• Abnormal EEG, characteristic pattern with large amplitude slow-spike
waves (usually 2-3/s), facilitated by eye closure (80%)
• Flat occiput (20-80%)
• Occipital groove (20-80%)
• Protruding tongue (20-80%)
• Tongue thrusting; suck/swallowing disorders (20-80%)
• Feeding problems during infancy (20-80%)
• Prognathia (20-80%)
• Wide mouth, wide-spaced teeth (20-80%)
• Frequent drooling (20-80%)
• Excessive chewing/mouthing behaviors (20-80%)
• Strabismus (20-80%)
• Hypopigmented skin, light hair and eye color (compared to family), seen
only in deletion cases (20-80%)
• Hyperactive lower limb deep tendon refl exes (20-80%)
• Uplifted, fl exed arm position especially during ambulation (20-80%)
• Increased sensitivity to heat (20-80%)
• Sleep disturbance (20-80%)
• Attraction to/fascination with water (20-80%)

From: “Angelman syndrome 2005: updated consensus for diagnostic criteria.” Williams CA
et al, Am J Med Genet A. 2006 Mar 1;140(5):413-8. PMID: 16470747

Comments

Popular posts from this blog

Bring on the off-season!

2017 race results:
Xterra Southeast Championships, Pelham, AL- 1st Overall Amateur FemaleUSAT Off-road National Championships at Xterra Gator Terra, AR- 1st Overall FemaleXterra Mountain Championships, Beaver Creek, CO- 5th Overall AmateurITU Cross World Championships, Penticton, Canada- 5th Overall Amateur, 2nd in age groupXterra Pan Am Championships/USA National Championships, Snowbasin Resort, Ogden, UT- 1st Overall AmateurXterra World Championships, Maui, HI- 1st American Amateur Female, 4th OverallAwarded Ms. Xterra 2017USAT ranked 1st overall in the women's 40-44 age group for off-road triathlon for 2017Selected to be part of Pearl Izumi's 2017 Ambador team
Sitting on the couch with my feet up while snow falls outside the window makes me think the race season above and results were just a distant dream rather than only ending a little over a week ago. I don't feel out of shape quite yet, but I have been indulging in chocolate, lattes, beer and wine- a few treats that …

Is injury a bad thing?

By now most of my Facebook and Instagram followers/friends know that a few weeks ago I took a tumble on my bike, or maybe I should call it a side swiping run-in with a tree stump that left me with a cracked rib. Not my best moment, but I had it coming. Had it coming, you may ask? In a way, yes. God is funny that way. After training so hard last year and having more success with racing than I would ever have imagined a few years ago, the voice between my ears got a bit overconfident... some may call the term cockiness. Outwordly, I hopefully kept this attitude in check for I knew that all I have been given -my life, my talents and abilities, home, family, and health could be taken away in an instant... but when on the bike or out for a run, the overconfidence in my strength and abilities was starting to creep out. 

If I saw a girl get a QOM on Strava, I would think "Oh, I could crush that", maybe not on all technical downhill segments riding my little hard tail Scott Scale, bu…

To bib or not to bib?

Hey cycling girlfriends! Let's chat.

I have been told many times, "once you try bibs, you will never go back to spandex cycling shorts again." The idea is that bibs don't have an elastic waist that cuts in to your middle when you are riding your bike, which makes you feel more comfortable and free to move on and off the saddle.

Based on the encouragement of other girls on bikes to try bibs, I bought a pair a few years ago... and while yes, they don't cut into the waist like traditional spandex shorts do, I was absolutely miserable wearing them and vowed never to wear them again. Why??? Because usually I have to "relieve myself" before, during and after a ride. I remember 10 minutes before the start of my first mountain bike race, I ran to the port-a-potty for one last pre-race nervous tinkle and about fell out of the outhouse attempting to take off my jersey which also housed my phone and race nutrition (thank goodness neither fell into the depths of th…