Scores on the Autism Quotient (AQ) in adult and younger male XLI samples, and normative samples.

<p>Scores on the Autism Quotient (AQ) in adult and younger male XLI samples, and normative samples.</p

Behavioural and Psychiatric Phenotypes in Men and Boys with X-Linked Ichthyosis: Evidence from a Worldwide Online Survey

<div><p>Background</p><p>X-linked ichthyosis (XLI) is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at increased risk of developmental disorders and associated traits. However, the behavioural profile of children with XLI is poorly-characterised, and the behavioural profile of adults with XLI has not yet been documented at all.</p><p>Materials and Methods</p><p>Using an online survey, advertised worldwide, we collected detailed self- or parent-reported information on behaviour in adult (n = 58) and younger (≤18yrs, n = 24) males with XLI for comparison to data from their non-affected brothers, and age/gender-matched previously-published normative data. The survey comprised demographic and background information (including any prior clinical diagnoses) and validated questionnaires assaying phenotypes of particular interest (Adult ADHD Self-Report Scale v1.1, Barrett Impulsiveness Scale-11, adult and adolescent Autism Quotient, Kessler Psychological Distress Scales, and Disruptive Behaviour Disorder Rating Scale).</p><p>Results</p><p>Individuals with XLI generally exhibited normal sensory function. Boys with XLI were at increased risk of developmental disorder, whilst adults with the condition were at increased risk of both developmental and mood disorders. Both adult and younger XLI groups scored significantly more highly than male general population norms on measures of inattention, impulsivity, autism-related traits, psychological distress and disruptive behavioural traits.</p><p>Conclusions</p><p>These findings indicate that both adult and younger males with XLI exhibit personality profiles that are distinct from those of males within the general population, and suggest that individuals with XLI may be at heightened risk of psychopathology. The data are consistent with the notion that STS is important in neurodevelopment and ongoing brain function, and with previous work suggesting high rates of developmental disorders in boys with XLI. Our results suggest that individuals with XLI may require medical care from multidisciplinary teams, and should help to inform genetic counselling for the condition.</p></div

Existing diagnoses of evelopmental, psychiatric or neurodegenerative disorders for adult and younger male XLI samples.

<p>Existing diagnoses of evelopmental, psychiatric or neurodegenerative disorders for adult and younger male XLI samples.</p

Scores on the Disruptive Behaviour Disorder Rating Scale (DBD-RS) in the younger male XLI sample, and normative samples.

<p>Scores on the Disruptive Behaviour Disorder Rating Scale (DBD-RS) in the younger male XLI sample, and normative samples.</p

Scores on the Barratt Impulsiveness Scale Version 11 (BIS-11) in adult and younger male XLI samples, and normative samples.

<p>Scores on the Barratt Impulsiveness Scale Version 11 (BIS-11) in adult and younger male XLI samples, and normative samples.</p

Demographic and diagnostic information for adult and younger male XLI samples.

<p>Demographic and diagnostic information for adult and younger male XLI samples.</p

Anxiety-related, activity and exploratory measures in the light-dark box test.

<p>Mice with an XY karyotype spent a greater proportion of time in the dark compartment of the apparatus than mice with an XX karyotype, irrespective of gonadal type (<b>A</b>, *p<0.05). The four experimental groups displayed equivalent numbers of transitions between the two boxes (B). Gonadally male mice tended to take longer than gonadally female mice to enter the aversive light box (C) irrespective of karyotype (*p<0.05). The four experimental groups demonstrated equivalent degrees of exploratory behaviour as indexed by rearing (<b>D</b>).</p

Anxiety-related and activity measures in the elevated zero maze.

<p>Gonadally female mice spent significantly less time than gonadally male mice on the aversive open quadrants of the elevated zero maze irrespective of karyotype (<b>A</b>, *p=0.05), and made fewer entries into these zones (<b>B</b>, *p<0.05).</p

Anxiety-related and activity measures in the open field test.

<p>All four experimental groups from the FCG cross spent an equal amount of time in the aversive central portion of the arena (<b>A</b>), made equal numbers of entries into this area (<b>B</b>), and showed equal latencies in making the first entry into this zone (<b>C</b>). There was a significant interaction between SRY DEPENDENCE and SEX CHROMOSOME COMPLEMENT on activity within the open field, consistent with gonadally female mice with an XX karyotype being more active than gonadally female mice with an XY karyotype, and gonadally male mice with an XY karyotype being more active than gonadally male mice with an XX karyotype (<b>D</b>).</p

Anxiety-related and activity measures on the elevated plus maze.

<p>The four groups of mice from the FCG cross spent equal time in the open arms of the elevated plus maze (<b>A</b>), and made equivalent numbers of entries into these zones (<b>B</b>). Gonadally female mice spent significantly longer time in the relatively unaversive closed arms than gonadally male mice irrespective of karyotype (<b>C</b>, *p<0.05), but all four groups made equal numbers of entries into these zones (<b>D</b>).</p