ArticlePloS one2016
Behavioural and Psychiatric Phenotypes in Men and Boys with X-Linked Ichthyosis: Evidence from a Worldwide Online Survey.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 57 citations in OpenAlex.
- Physiological and Behavioural Characterisation of a Novel Steroid Sulfatase-Deficient Mouse.Genes, brain, and behavior · 2026Article
- Case Report: A family with X-linked ichthyosis identified by secondary findings of non-invasive prenatal testing.Frontiers in medicine · 2026Article
- Steroid Sulfatase Deficiency: Clinical Manifestations and Psychological Aspects in Light of Current Evidence.Clinical, cosmetic and investigational dermatology · 2026Review
- Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.Translational pediatrics · 2025Article
- Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study.Archives of dermatological research · 2025Article
- Characterising heart rhythm abnormalities associated with Xp22.31 deletion.Journal of medical genetics · 2023Article
- Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up.BMC medical genomics · 2023Article
- Link between the skin and autism spectrum disorder.Frontiers in psychiatry · 2023Article
- X-linked ichthyosis: New insights into a multi-system disorder.Skin health and disease · 2022Review
- Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.Orphanet journal of rare diseases · 2022Article
- Mood symptoms, neurodevelopmental traits, and their contributory factors in X-linked ichthyosis, ichthyosis vulgaris and psoriasis.Clinical and experimental dermatology · 2022Article
- Comorbid Medical Issues in X-Linked Ichthyosis.JID innovations : skin science from molecules to population health · 2022Article
- A Role for Gene-Environment Interactions in Autism Spectrum Disorder Is Supported by Variants in Genes Regulating the Effects of Exposure to Xenobiotics.Frontiers in neuroscience · 2022Article
- Steroid Sulfation in Neurodegenerative Diseases.Frontiers in molecular biosciences · 2022Review
- The opportunities and challenges of social media in interstitial lung disease: a viewpoint.Respiratory research · 2021Review
- Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.Human molecular genetics · 2020Article
- Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.Journal of medical genetics · 2020Article
- X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.Journal of clinical laboratory analysis · 2020Article
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.BMC medical genetics · 2020Article
- Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis.PloS one · 2019Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundX-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. MATERIALS AND
methodsUsing 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).
resultsIndividuals 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.
conclusionsThese 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.
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