study

We took part in a study in 2008, run by Addenbrooke's Hospital.
And was run by Prof Yates, Dr Kent and Dr Weisblatt.
Out of 25 familys that took part it was down to 3, and we were one of the 3.
Here is an Abstract from that study.

X-Linked Ichthyosis (XLI) is an inherited disorder affecting 1 in 2000 males and in characterised by scaly skin on the scalp, trunk and limbs usually from birth.
The conditionis due to deficiency of the enzyme steroid sulfatase (STS).
In obstetric practice this disorder is known as placental sulfatase deficiency and can be associated with longer gestation and complications in labour due to poor cervical dilataion.
The majority (approx 90%) of individuals with XLI have a complete deletion of the STS gene at Xp22.32.
This deletion is usually the result of aberrant recombination between homologous sequences in the VCX (variably charged, X chromosome) genes flanking the STS locus.
More extensive STS deletions give rise to contiguous gene deletion syndromes which can include the genes for short stature (SHOX), Kallmann sydrome (KAL), X-linked chondrodysplasis punctata (ARSE), and the X-linked ocular albinism (0A1).
Several case reports of patients with Xp deletions and XLI include cognitive behavioural features such as attention deficit hyperactivity disorder (ADHD), mental retardation and autism.
The VCX3A gene (variably charged, X chromosome, 3A; also known as VCX-A) has been proposed to have a role in the occurrence of mental retardation in some XLI individuals.
The neuroligin 4 (NLGN4) gene, which is included in the deleted region in some XLI patients, may have a role in autism and social communication difficulties since mutations in this gene have associated with autism.
In this study, we therefore sought to systematically examine the frequency of the attention deficit hyperactivity symptoms and disorder (ADHD) and autism in boys with XLI.