Behavioural and psychiatric phenotypes in men and boys with X-linked ichthyosis: Evidence from a worldwide online survey

PLoS ONE

Volumn 11, Issue 10, 2016, Pages

  Chatterjee, Sohini ^a   Humby, Trevor ^a,b   Davies, William ^a,b  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTISM; BEHAVIOR DISORDER; BROTHER; CHILD; COMPARATIVE STUDY; CONTROLLED STUDY; DEMOGRAPHY; DEVELOPMENTAL DISORDER; DISRUPTIVE BEHAVIOR; DISTRESS SYNDROME; HEALTH SURVEY; HUMAN; IMPULSIVENESS; MALE; MENTAL DISEASE; MOOD DISORDER; PHENOTYPE; QUESTIONNAIRE; RATING SCALE; RISK ASSESSMENT; SCHOOL CHILD; SCORING SYSTEM; SELF REPORT; X LINKED ICHTHYOSIS; AUTISTIC DISORDER; BEHAVIOR; COMPLICATION; ICHTHYOSIS, X-LINKED; INTERNET; MOOD DISORDERS; NEURODEGENERATIVE DISEASES; PHYSIOLOGY; PSYCHOLOGY; PSYCHOMETRY; YOUNG ADULT;

ADULT; AUTISTIC DISORDER; BEHAVIOR; CHILD; HUMANS; ICHTHYOSIS, X-LINKED; INTERNET; MALE; MOOD DISORDERS; NEURODEGENERATIVE DISEASES; PHENOTYPE; PSYCHOMETRICS; SURVEYS AND QUESTIONNAIRES; YOUNG ADULT;

EID: 84991255113     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0164417     Document Type: Article

References (40)

1. Fernandes NF, Janniger CK and Schwartz RA (2010) X-linked ichthyosis: an oculocutaneous genodermatosis. J Am Acad Dermatol 62: 480-485. doi: 10.1016/j.jaad.2009.04.028 PMID: 20080321
2. Kent L, Emerton J, Bhadravathi V, Weisblatt E, Pasco G, Willatt LR, et al. (2008) X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet 45: 519-524. doi: 10.1136/jmg.2008.057729 PMID: 18413370
3. Hand JL, Runke CK and Hodge JC (2015) The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray. J Am Acad Dermatol 72: 617-627. doi: 10.1016/j.jaad.2014.12.020 PMID: 25659225
4. Craig WY, Roberson M, Palomaki GE, Shackleton CH, Marcos J and Haddow JE (2010) Prevalence of steroid sulfatase deficiency in California according to race and ethnicity. Prenat Diagn 30: 893-898. doi: 10.1002/pd.2588 PMID: 20715120
5. Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, et al. (2007) Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet 50: 301-308. doi: 10.1016/j.ejmg.2007.04. 005 PMID: 17591464
6. Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, et al. (2003) An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits. Epilepsia 44: 1529-1535. PMID: 14636323
7. Tobias ES, Bryce G, Farmer G, Barton J, Colgan J, Morrison N, et al. (2001) Absence of learning difficulties in a hyperactive boy with a terminal Xp deletion encompassing the MRX49 locus. J Med Genet 38: 466-470. doi: 10.1136/jmg.38.7.466 PMID: 11474655
8. Stergiakouli E, Langley K, Williams H, Walters J, Williams NM, Suren S, et al. (2011) Steroid sulfatase is a potential modifier of cognition in attention deficit hyperactivity disorder. Genes Brain Behav 10: 334-344. doi: 10.1111/j.1601-183X.2010.00672.x PMID: 21255266
9. Brookes KJ, Hawi Z, Kirley A, Barry E, Gill M and Kent L (2008) Association of the steroid sulfatase (STS) gene with attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet 147B: 1531-1535. doi: 10.1002/ajmg.b.30873 PMID: 18937300
10. Davies W, Humby T, Kong W, Otter T, Burgoyne PS and Wilkinson LS (2009) Converging pharmacological and genetic evidence indicates a role for steroid sulfatase in attention. Biol Psychiatry 66: 360-367. doi: 10.1016/j.biopsych.2009.01.001 PMID: 19251250
11. Davies W, Humby T, Trent S, Eddy JB, Ojarikre OA and Wilkinson LS (2014) Genetic and pharmacological modulation of the steroid sulfatase axis improves response control; comparison with drugs used in ADHD. Neuropsychopharmacology 39: 2622-2632. doi: 10.1038/npp.2014.115 PMID: 24842408
12. Trent S, Dean R, Veit B, Cassano T, Bedse G, Ojarikre OA, et al. (2013) Biological mechanisms associated with increased perseveration and hyperactivity in a genetic mouse model of neurodevelopmental disorder. Psychoneuroendocrinology 38: 1370-1380. doi: 10.1016/j.psyneuen.2012.12.002 PMID: 23276394
13. Trent S, Cassano T, Bedse G, Ojarikre OA, Humby T and DaviesW(2012) Altered serotonergic function may partially account for behavioral endophenotypes in steroid sulfatase-deficient mice. Neuropsychopharmacology 37: 1267-1274. doi: 10.1038/npp.2011.314 PMID: 22189290
14. Trent S, Dennehy A, Richardson H, Ojarikre OA, Burgoyne PS, Humby T, et al. (2012) Steroid sulfatase- deficient mice exhibit endophenotypes relevant to attention deficit hyperactivity disorder. Psychoneuroendocrinology 37: 221-229. doi: 10.1016/j.psyneuen.2011.06.006 PMID: 21723668
15. Mendlowicz MV, Jean-Louis G, Gillin JC, Akiskal HS, Furlanetto LM, Rapaport MH, et al. (2000) Sociodemographic predictors of temperament and character. J Psychiatr Res 34: 221-226. doi: 10.1016/s0022-3956(00)00014-5 PMID: 10867117
16. Kessler RC, Adler L, Ames M, Demler O, Faraone S, Hiripi E, et al. (2005) The World Health Organization Adult ADHD Self-Report Scale (ASRS): a short screening scale for use in the general population. Psychol Med 35: 245-256. doi: 10.1017/s0033291704002892 PMID: 15841682
17. Adler LA and Newcorn JH (2011) Administering and evaluating the results of the adult ADHD Self- Report Scale (ASRS) in adolescents. J Clin Psychiatry 72: e20. doi: 10.4088/JCP.10081tx2c PMID: 21733473
18. Patton JH, Stanford MS and Barratt ES (1995) Factor structure of the Barratt impulsiveness scale. J Clin Psychol 51: 768-774. doi: 10.1002/1097-4679(199511)51:6%3C768::aid-jclp2270510607%3E3. 0.co;2-1 PMID: 8778124
19. Baron-Cohen S, Wheelwright S, Skinner R, Martin J and Clubley E (2001) The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. J Autism Dev Disord 31: 5-17. PMID: 11439754
20. Baron-Cohen S, Hoekstra RA, Knickmeyer R and Wheelwright S (2006) The Autism-Spectrum Quotient (AQ)-adolescent version. J Autism Dev Disord 36: 343-350. doi: 10.1007/s10803-006-0073-6 PMID: 16552625
21. Kessler RC, Andrews G, Colpe LJ, Hiripi E, Mroczek DK, Walters EE, et al. (2002) Short screening scales to monitor population prevalences and trends in non-specific psychological distress. Psychol Med 32: 959-976. doi: 10.1017/s0033291702006074 PMID: 12214795
22. Silva RR, Alpert M, Pouget E, Silva V, Trosper S, Reyes K, et al. (2005) A rating scale for disruptive behavior disorders, based on the DSM-IV item pool. Psychiatr Q 76: 327-339. doi: 10.1007/s11126- 005-4966-x PMID: 16217627
23. Unknown author. Frequency of personality types [cited 24 June 2016]. Available: http://www.mypersonality.info/personality-types/population-gender/
24. Stanford MS, Matthias CW, Dougherty DM, Lake SL, Anderson NE and Patton JH (2009) Fifty years of the Barratt Impulsiveness Scale: An update and review. Personality and Individual Differences 47: 385-395. doi: 10.1016/j.paid.2009.04.008
25. Gatta M, Spoto A, Serena L, Penzo M, Paolo TC and Battistella PA (2014) Impulsiveness, Behavioral Disorders and Alcohol Misuse in Teenage Students in Northern Italy Journal of Psychological Abnormalities in Children 3: 122.
26. Ruzich E, Allison C, Chakrabarti B, Smith P, Musto H, Ring H, et al. (2015) Sex and STEM Occupation Predict Autism-Spectrum Quotient (AQ) Scores in Half a Million People. PLoS One 10: e0141229. doi: 10.1371/journal.pone.0141229 PMID: 26488477
27. Slade T, Grove R and Burgess P (2011) Kessler Psychological Distress Scale: normative data from the 2007 Australian National Survey of Mental Health and Wellbeing. Aust N Z J Psychiatry 45: 308-316. doi: 10.3109/00048674.2010.543653 PMID: 21332432
28. Peiper N, Clayton R, Wilson R and Illback R (2015) The performance of the K6 Scale in a large school sample. Psychol Assess 27: 228-238. doi: 10.1037/pas0000025 PMID: 25222434
29. Evans SW, Brady CE, Harrison JR, Bunford N, Kern L, State T, et al. (2013) Measuring ADHD and ODD symptoms and impairment using high school teachers' ratings. J Clin Child Adolesc Psychol 42: 197-207. doi: 10.1080/15374416.2012.738456 PMID: 23215533
30. DuPaul GJ, Anastopoulos AD, Power TJ, Reid R, Ikeda MJ and McGoey KE (1998) Parent Ratings of Attention-Deficit/Hyperactivity Disorder Symptoms: Factor Structure and Normative Data. Journal of Psychopathology and Behavioral Assessment 20: 83-102.
31. Bjornsdotter A, Enebrink P and Ghaderi A (2013) Psychometric properties of online administered parental strengths and difficulties questionnaire (SDQ), and normative data based on combined online and paper-and-pencil administration. Child Adolesc Psychiatry Ment Health 7: 40. doi: 10.1186/1753- 2000-7-40 PMID: 24325882
32. Trent S and DaviesW(2013) Cognitive, behavioural and psychiatric phenotypes associated with steroid sulfatase deficiency. World Journal of Translational Medicine 2: 1-12.
33. Ong AD and Weiss DJ (2000) The Impact of Anonymity on Responses to Sensitive Questions. Journal of Applied Social Psychology 30: 1691-1708. doi: 10.1111/j.1559-1816.2000.tb02462.x
34. Developmental Disabilities Monitoring Network Surveillance Year Principal I, Centers for Disease C and Prevention (2014) Prevalence of autism spectrum disorder among children aged 8 years-autism and developmental disabilities monitoring network, 11 sites, United States, 2010. MMWR Surveill Summ 63: 1-21. PMID: 24670961
35. Thapar A and Cooper M (2016) Attention deficit hyperactivity disorder. Lancet 387: 1240-1250. doi: 10.1016/S0140-6736(15)00238-X PMID: 26386541
36. Perou R, Bitsko RH, Blumberg SJ, Pastor P, Ghandour RM, Gfroerer JC, et al. (2013) Mental health surveillance among children-United States, 2005-2011. MMWR Suppl 62: 1-35.
37. Steel Z, Marnane C, Iranpour C, Chey T, Jackson JW, Patel V, et al. (2014) The global prevalence of common mental disorders: a systematic review and meta-analysis 1980-2013. Int J Epidemiol 43: 476-493. doi: 10.1093/ije/dyu038 PMID: 24648481
38. Brugha TS, McManus S, Bankart J, Scott F, Purdon S, Smith J, et al. (2011) Epidemiology of autism spectrum disorders in adults in the community in England. Arch Gen Psychiatry 68: 459-465. doi: 10. 1001/archgenpsychiatry.2011.38 PMID: 21536975
39. Happe F and Frith U (2006) The weak coherence account: detail-focused cognitive style in autism spectrum disorders. J Autism Dev Disord 36: 5-25. doi: 10.1007/s10803-005-0039-0 PMID: 16450045
40. Gatt JM, Burton KL, Williams LM and Schofield PR (2015) Specific and common genes implicated across major mental disorders: a review of meta-analysis studies. J Psychiatr Res 60: 1-13. doi: 10. 1016/j.jpsychires.2014.09.014 PMID: 25287955