Can you help me compile a list of 'What's What' - a brief description of 'SN diagnoses'?

[morningpaper]

Hello,

Gerry is making me do some work.

I need to compile a list of What's What for the SN area, which comprises a list of diagnoses and brief descriptions and a link to relevant charities/orgs.

They can be common or otherwise - hopefully, as it will be googleable, it might bring people to the SN boards, so to be honest, even if a diagnoses is not common it would be worth including because they are probably 'experts' here who might be able to help people out, IYKWIM.

Any suggestions would be welcome.

Perisylvian polymicrogyria

how long do you want the list to be?
if you take CP there are loads of different kinds.

You are very right, 2shoes. Kinds such as perisylvian polymicrogyria

let's all bring out our big words to confuse mp

I think it needs to come somewhere between a Full Index and a Vague Content

ermm

I guess about 30 - 50 diagnoses?

Don't scare me too much with your big words though

I have no more words to scare you with

though 2shoes is right, CP is such a huge area, I don't know where to start

there's not really a typical brief description I can give you without just describing my own child, and her situation is going to be very different to the next one iyswim

sorry I am not being alkward but..
you have athetoid cp, spastic cp, athetoid cp with ataxic(sorry can't spell it) tendencys)
you can have athetoid cp with spastic tendencys.........
what I am trying to say(badly) is it isn't as simple as saying
cerable palsey

Cappster/2shoes I understand your points I think, but I suppose I am thinking of parents who might have just been given a diagnoses, and they might be looking it up, and so I want to put together a Useful Paragraph summarising the diagnoses (e.g. for CP I could put: This encompasses the following variants' or sommat and then link to a CP org. Would that work do you think?) It doesn't have to be comphensive, just a Useful Signpost.

pmsl at 'cerable palsey' when you spelt everyting else right

and even children with spastic cp are going to have very different prognoses

we're not trying to be difficult mp

The problem with googling for symptoms with a dx is that you get generic information that can scare the living crap out of you

google perisylvian polymicrogyria, like I did 8 years ago, and you'll get a woeful description of a child with learning disabilities who can barely walk or speak

not a child who won her class trophy this morning and collected it, grinning, on a pair of crutches

internet information that is too glib or general can make a terrible time in your life even worse

Yes I don't want to be vague but the list of What's What was suggested on the SN boards as something that would be useful so you can't change your mind now, it's on Gerry's List Of Things To Keep Morningpaper Away From Cristine Odone

It's more of a signposting thing really

TheCappster 14 years later and I still can't spell it(well done to your dd)

MP trouble is you would have to keep it short and then leave out loads as it could be scarey.
CP and DS to name but 2 DX's
are such broad DX'S where do you begin?

OK well here is an example which is my summary under Down's Syndrome:

Down?s Syndrome: Down's syndrome is a genetic condition caused by an extra chromosome in a person?s DNA. Down's syndrome is not hereditary, or a disease, but instead occurs by chance at conception. There are around 60,000 people with Down's syndrome in the UK. Link to: Down Syndrome Association www.downs-syndrome.org.uk/

I need you to throw some more conditions at me or you won't be allowed to complain when it's put up

Aspergers, ASD, Sensory Processing Disorder, Developmental Coordination Disorder, Dyspraxia, Dyslexia..

Selective Mutism is an anxiety disorder regarding speaking in certain environments or to certain people. Sufferers will find in hard to speak in certain situations although they can speak normally when they are comfortable. Around 8 in a 1000 people are known to suffer from this although these figures may be much higher as it is a under recognized condition often mistaken for shyness. It affects both adults and children.www.selectivemutism.co.uk

oh MP you can have translocation DS - that is hereditary

not very common though

like my dd has cri du chat syndrome. Usually that is sporadic deletion on chromosome 5p, but in her case it is inherited, caused by unbalanced chromosome translocation. Not so common though - only about 5 - 10 % of cases are usually caused by translocation

sorry - not wanting to be a pendant

oooh herjazz my mate's dd has that

Kanner/classic autism, Asperger syndrome, High fonctioning autism, Tourettes'syndrome, ADHD/ADD, Dyspraxia, Dyslexia, Sensory processing disorder, Semantic/pragmatic disorder, CP, Donws syndrome, Angelman syndrome, Soto syndrome, Rett syndrome, ...
There are hundreds

really? I've only ever met 1 other person in flesh with it. How is yr mate's dd getting on?

My dd has partial trisomy 14q, glycogen synthase deficiency and leukodystrophy as well so isn't v typical of cdc

sorry for sabotage.

MP - I think a top level list of disorders would be better really. Maybe have it split into chromosomal, metabolic, hormonal, neurophysical, social communication etc with links to main organisations within that - eg down syndrome association and unique for chromosomal, climb for metabolic, ASD links under social communication etc, neurophysical can link to cerebra and scope. Obv there will be overlaps but at least by pointing to other places with more exhaustive list of links you're getting stuff covered without being responsible for it

Global Developmental Disorder
Cortical Dysplasia
Epilepsy

can you then just put as many disorders as you can pick out from all the other links into the metadata or hide them in page code somewhere to get search engine traffic?

Hypomelanosis of Ito. Diagnosis is anything but brief. Support group here

Global Developmental Delay - it's so often given to parents but really it means nothing and everything. My DS has CP and we knew from fairly early on (although I did keep getting it confused with Cysctic Fibrosis - another one for you list!)
GDD means that there is something wrong - it may go away, it may get worse, it may become obvious that it is actually something else, Genetic testing may show a syndrome or a deletion but no one really knows. That type of lack of clarity is very disconcerting, it's only after you have been around Dr's for a while while dealing with an SN child that you realise how little Dr's really know about the human body, even less about the human brain. They really have no idea so what is told to you by the Dr's in the early days is no more than and educated guess. What is more important is getting access to early intervention, Physio, OT, SALT, signing, etc etc. However it's very hard to take that on board when you are dealing with everything else and the emotional side as well.

I don't really know what I am saying here but In any 'guide to SN' I would have liked to see that highlighted.

oh god, sorry about spellings.

That is so true HM. TBH I'd rather have an ASD dx, because I would know where we were. Instead we've got GDD, epilepsy & cortical dysplasia - roughly translated "all a bit squiffy" by the paed. Try using that to explain why DD is the way she is

Joint Hypermobility Syndrome: Joint Hypermobility Syndrome is a genetic connective tissue disorder. In a person with this syndrome, the connective tissue of the body (such as ligaments) will be soft and floppy instead of tight. This causes hypermobile (bendy) joints, resulting in frequent dislocations and subluxations (mini-dislocations), falls, ligament damage, chronic pain and fatigue. It is often associated with poor proprioception (knowing where your limbs are) and poor balance, sometimes also with incontinence and skin damage. Some doctors now think that Hypermoblity Syndrome is a form of Ehlers Danlos Syndrome. It is thought to be caused by an autosomal dominant gene.

Muscular Dystrophy. Approx 60 - 70 different types. People would mostly likely hear of Duchenne Muscular Dystrophy (usually affects just boys) and Spinal Muscular Atrophy. Muscular Dystrophy Campaign website really useful. it is generally under neuromuscular disorders. Good luck with this index!!