Learning Disabilities Are a Fundamental Hallmark of the Disease
Incontinentia Pigmenti:
Learning Disabilities Are a Fundamental Hallmark of the Disease
Complete Article Download is available located at below file name within
files of this Facebook group or 
athttp://www.plosone.org/article/info:doi/10.1371/journal.pone.0087771
Simone Graziani uploaded a file.
March 20 at 2:01pm
FILE NAME,  Pizzamiglioetal2014.pdf
“A very interesting article about IP written by Doctor Maria Rosa Pizzamiglio, member of the
scientific committee of the Italian IP association and her colleagues” Simone G.

Abstract (borrowed from File Name Pizzamiglioetal2014.pdf) 
Studies suggest that genetic factors are associated with the etiology of learning
disabilities. Incontinentia Pigmenti (IP, OMIM#308300), which is caused by
mutations of the IKBKG/NEMO gene, is a rare X-linked genomic disorder
(1:10000/20:000) that affects the neuroectodermal tissues. It always affects
the skin and sometimes the hair, teeth, nails, eyes and central nervous system (CNS).
 Data from IP patients demonstrate the heterogeneity of the clinical phenotype;
about 30% have CNS manifestations. This extreme variability suggests that IP patients
might also have learning disabilities. However, no studies in the literature have
evaluated the cognitive profile of IP patients. In fact, the learning
disability may go unnoticed in general neurological analyses, which focus on
major disabling manifestations of the CNS. Here, we investigated the
neuropsychological outcomes of a selected group of IP-patients by focusing on
learning disabilities. We enrolled 10 women with IP (7 without mental
retardation and 3 with mild to severe mental retardation) whose clinical diagnosis
had been confirmed by the presence of a recurrent deletion in the IKBKG/NEMO
gene. The participants were recruited from the Italian patients’ association
(I.P.A.SS.I. Onlus). They were submitted to a cognitive assessment that included
the Wechsler Adult Intelligence scale and a battery of tests examining reading,
arithmetic and writing skills. We found that 7 patients had deficits in
calculation/arithmetic reasoning and reading but not writing skills; the
remaining 3 had severe to mild intellectual disabilities. Results of this
comprehensive evaluation of the molecular and psychoneurological aspects of IP
make it possible to place ‘‘learning disabilities’’ among the CNS
manifestations of the disease and suggest that the IKBKG/NEMO gene is a genetic
determinant of this CNS defect. Our findings indicate the importance of an
appropriate psychoneurological evaluation of IP patients, which includes early
assessment of learning abilities, to prevent the onset of this deficit.
For full copy of artical see FILE NAME,  Pizzamiglioetal2014.pdf 
orhttp://www.plosone.org/article/info:doi/10.1371/journal.pone.0087771

Woop Woop, well iv just seen this on facebook. The Tshirt sale has passed its target.

96 t-shirts sold worldwide with only 3 days left to order yours athttps://fabrily.com/ip-biobank Did you know October is IP Awareness Month? These t-shirts are a wonderful way to spread awareness and to give IP HOPE. All proceeds from the sales of these shirts will help fund a much needed IP BioBank Please join us.
and help fight IP.

Come on guys its not to late to buy your Tshirts. to help raise funds for a bio bank. the Bio Bank will help us hopfully find a cure and help stop future children  from being born with IP 

October IP Awareness and Remembrance Month

Could everyone share one of these badges and maybe use one of them as a profile picture on all your social networks, for the month of October so show your support for IP.

There are ONLY 7 DAYS LEFT to order your Limited Edition IP Awareness T-Shirt ! https://fabrily.com/ip-biobank
All efforts made with this campaign will give IP families a brighter future Please help us with our IP BioBank and order yours today. If you would like to make a donation towards the IP BioBank please visit our website atwww.ipif.org and click the donate button to help our efforts through paypal. (IPIF is a 501(c)3 foundation and all donations are tax deductible)
Currently we have 92 shirts sold!

Incontinentia Pigmenti BioBank

fabrily.com

Please Help Us Help IP Families. Incontinentia Pigmenti (IP) is a Rare Genetic disorder with NO Cure and Not many answers. IP affects the skin, teeth, eyes, hair, nails and centra...

JEANS FOR GENES DAY 2014

Well today here in the UK its jeans for genes day. its a day where everyone has to wear jeans to show support of people born with rare genetic conditions. My little girl was born with a rare genetic condition called incontinentia pigmenti and her and others like her have a very rough ride. To find out more about Incontinentia pigmenti click the link below.

INCONTINENTIA PIGMENTI.



we have loads of people joining in even some stars. so why dont you join in and wear jeans for genes.

If you want to fine out more about Jeans for genes day then please click the link below.


JEANS FOR GENES DAY.




SOME PICTURES  OF FAMILY AND FRIENDS WEARING THEIR  JEANS.

SOME STARS WEARING JEANS FOR GENES.

I would love to see you all wearing your jeans today, dont forget that by making people aware of rare genetic conditions, your helping the people living with them.

our small bit of good news. xx

Just thought I would up date with some good news, Yesterday little miss went to the Dentist and like a really big girl that she is, she sat in the chair all by herself. when the Dentist looked at her he told me that her teeth were coming in beautifuly and she had no problems. as many people know one of the major problems with IP is teeth problems, so you can imagine my joy at finding out that we have nothing to worry about just yet. She hasnt got to go back for 6 month as its just a waiting game to see how the others come in.  So we are going to sit back and enjoy this little bit of good news while we have it.