I was pawing through the various syndrome descriptions linked to at the
bottom of
http://en.wikipedia.org/wiki/Chromosome_abnormalities
reminding myself of the various developmental disasters that can occur
during pregnancy that our new American Republican Vice-Presidential
candidate believes we should legislate be carried to term (depending on
which story you believe, she herself either knowingly carried or forced
her unmarried teenage daughter to carry a Down's Syndrome pregnancy to
term), and was struck by something more than reinforcement of my firm
conviction of the criminal irresponsibility of such policy.
I was struck in particular by two descriptions:
"Williams syndrome (WS; also Williams-Beuren syndrome or WBS) is a rare
neurodevelopmental disorder caused by a deletion of about 26 genes from
the long arm of chromosome 7. It is characterized by a distinctive,
'elfin' facial appearance, along with a low nasal bridge; an unusually
cheerful demeanor and ease with strangers, coupled with unpredictably
occurring negative outbursts; a predisposition to violent outbursts;
mental retardation coupled with unusual (for persons who are diagnosed as
mentally retarded) language skills; a love for music . . . .
"Individuals with Williams syndrome are highly verbal and sociable, but
lack common sense and typically have low intelligence. The condition has
been contrasted with autism, who lack social interests. Individuals with
WS hyperfocus on the eyes of others in social engagements. There also
appears to be a higher prevalence of left-handedness and left-eye
dominance in those with Williams, and cases of absolute pitch appear to
be significantly higher amongst those with the condition. People with
Williams syndrome often have hyperacusis and phonophobia which resembles
noise-induced hearing loss, but this may be due to a malfunctioning
auditory nerve. Individuals with Williams syndrome also report
higher levels of fears, which may be associated with hyperacusis."
http://en.wikipedia.org/wiki/Williams_syndrome
and by
"Angelman syndrome (AS) is a neuro-genetic disorder characterized by
intellectual and developmental delay, sleep disturbance, seizures, jerky
movements especially hand-flapping, frequent laughter or smiling, and
usually a happy demeanour. AS is a classic example of genetic imprinting
in that it is usually caused by deletion or inactivation of genes on the
maternally inherited chromosome 15 . . . .
"AS is named after a British pediatrician, Dr. Harry Angelman, who first
described the syndrome in 1965. An older, alternative term for AS, happy
puppet syndrome, is generally considered pejorative and stigmatizing so it
is no longer used, though it remains useful as a diagnostic heuristic.
"People with AS are sometimes known as 'Angels', both because of the
syndrome's name and because of their youthful, happy appearance . . . .
"Absent or little speech (not in all cases - some children have a
vocabulary of up to 50 words)
"Receptive and non-verbal communication skills higher than verbal ones
"Poor attention span and hyperactivity
"Severe learning disabilities
"Epilepsy (80%%) and an abnormal EEG
"Unusual movements (fine tremors, hand flapping, jerking movements)
"Affectionate nature and frequent inappropriate laughter
"Wide-based stiff-legged gait, with tendency to hold arms up and flexed
while walking.
"Below average head size, often with flattening at the back
"Subtle, but sometimes characteristic facial features (wide mouth, widely
spaced teeth, prominent chin, tendency to tongue thrust)
"Poor sleeping pattern
"Strabismus (Squint - crossed eye/s) in 40%%
"Scoliosis (abnormal curvature of the spine) in 10%%
"Increased sensitivity to heat
"Attraction to/fascination with water"
http://en.wikipedia.org/wiki/Angelman_syndrome
Given a pre-scientific interpretation of such developmental disasters, I
conclude that we probably have here (and in some other syndromes) the
classic "changelings" of folklore.
--
tinmimus99@
hotmail.com
smeeter 11 or maybe 12
mp 10
The best piece of logic I ever heard, Mr Larynx; the very best,
I assure you.
< _Nightmare Abbey_