Tuesday, 30 September 2014

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 
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 

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