Molly verses Diagnostic Criteria

The following is a list directly relating to diagnostic criteria for Angelman Syndrome; it does not list everything about Molly. The goal is to illustrate that the nature of a "syndrome" is that just because all the boxes are not checked does not mean that an individual does not have Angelman Syndrome, and of course the opposite - just because someone has Angelman Syndrome doesnt mean that all the criteria will apply!

  • Molly started sitting unaided at 14mths, she started "bum shuffling" shortly after her second birthday.
  • Molly can feed herself finger food, she can get solid food to her mouth on a fork or spoon but cannot load the utensil herself. She started to drink from a straw cup at around 3yrs old.
  • Paired with her walking frame "Forrest" Molly started moving upright at 39mths, she has
    • AFOs (Ankle Foot Orthotics) to help stretch her calf muscles and control her foot alignment
    • regular chiro to ward off scoliosis
    • bowen therapy and
    • annual hip xrays to watch for potential problems
  • Mollys says "dad" and "nanna"on a daily basis "Mum" and "more" make appearances and other words have come and gone. We have no doubt that Molly knows the words she wants to say but has trouble articulating at the appropriate time.
  • Molly has recently started using an iPad with some success, we have a variety of applications including Proloquo2Go
  • Molly used to have an ever so slight tremor in her hands when she was young and really tired or concentrating hard, we do not see this now.
  • Behaviour
    • Is Molly normally Happy? Yes
    • Is she easily excitable (accompanied by hand waving)? Yes
    • Hypermotoric, or moving alot? Yes (while I was pregnant Molly didn't stop moving!). 
    • Short attention span? I think this needs improvement..Molly is a busy girl, I think that her inability to complete a complex task makes her move to the next one this is a work in progress.
  • Mollys head circumference goes against typical AS features & is right on the 50th percentile! (I think other genetics come into play here – her mum has a big head!)
  • Molly had a tonic clonic (Grand Mal) febrile convulsion at 18 mths and stayed seizure free until 33mths when again it was febrile. A month later we medicated her when she was diagnosed with epilepsy after a cluster of complex partial seizures (as of today 31/10/2010 we have been seizure free with Frisium for 5mths)
  • Abnormal EEG, characteristic pattern with large amplitude slow-spike waves
  •  Flat occiput & Occipital groove (Flat back of the head) but then she didnt sit until 14mths so I suspect this is the reason!
  • Protruding tongue when concentrating - but only very rarely & I think mums might do this some times also!
  • Swallowing disorders in the early months of solid food (Reflux as a small baby that turned out to be a dairy intolerance)
  • Failure to thrive which resulted in Molly having a feeding peg inserted at 14mths, she was fed an allergy free formula by pump overnight in addition to her daytime meals until 30mths). Molly still has her GTube (peg) but is no longer fed using it, her weight is approaching the 50 percentile and we will evaluate having it removed soon.
  • Excessive chewing/mouthing behaviors – check! Robbed of a large majority of her sensory experiences Molly gets a great deal of feedback from her mouth. Chewy tubes and other sensory toys enable Molly to concentrate much better on the task at hand and are a handbag essential!
  • Light hair, skin and eye color. Molly definitely has this colouring. Concerned, we took her for an eye examination revealing no hyper pigmentation in her eyes. With two blue eyed uncles and grandparents and some Scottish bloodlines who knows!
  • Hyperactive lower limb deep tendon reflexes? Definatly. I would say its an effort to control muscle movement that may slow.
  • Increased sensitivity to heat (she sleeps better with the air conditioner on low)
  • Sleep disturbance  - Molly has a problem with nocturnal waking! Her sleep has improved dramatically with liquid melatonin. For a long time she woke 2-3 times a night was disturbed easily and her sleep was not managed properly until recently! There are a range of measures (too lengthy to put on this page) put into place to get Molly's sleep under control. Please contact us if you would like to know more. Sleep deprivation is used as torture for a reason – it is! 
  • Molly loves water, like her sister Eva. We see no evidence of any unusual attraction as yet.