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Children with Usher syndrome: mental and behavioral disorders

Children with Usher syndrome: mental and behavioral disorders Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders. Keywords: Deafblindness, Dual sensory loss, Mental and behavioral disorders, Usher syndrome, Psychiatry Background been associated with Usher syndrome. To date, seven Usher syndrome is characterized by deafness and a gra- genetic loci for Usher I (USH1B-H) have been mapped dual loss of vision. The hearing loss is sensorineural, on chromosomes 14q32, 11q13.5, 11p15.1, 10q22.1, whereas the vision loss is associated with retinitis pig- 21q21 and 10p-22, 17q24-25. Usher II is associated with mentosa (RP), a degeneration of the retinal cells. Three mutations in three genes (USH2A, C-D). Mutations in subtypes of Usher syndrome have been found [1]. Peo- the USH2A gene on chromosome 1q41 are the most ple with Usher I are congenitally deaf, and start to lose common (85% of all cases with Usher II). Only one vision early in life. They also face balance difficulties gene has been linked to Usher III. Usher III is caused by due to vestibular system problems. Individuals with mutations in the USH3A (clarin-1) gene, mapped on Usher II also experience hearing loss but are not pro- 3q21-q25 [2]. foundly deaf. They have no noticeable problems with A large amount of gene research has been conducted their balance. Individuals with Usher syndrome III are on Usher Syndrome [2], but only a small amount of notcongenitallydeaf,but graduallylosetheir senseof research has focused on psychiatric and psychological issues. Different mental and behavioral disorders have hearing and vision. Some individuals with Usher III experience balance difficulties while others do not [2,3]. been reported among adults. Psychosis (schizophrenic Because of the balance difficulties many children with type picture) has been discussed in some case studies Usher take longer to learn to walk. Several genes have [4-12] and Hallgren [13] reported that 23% of 114 indi- viduals with Usher syndrome were psychotic. However, Grøndahl and Mjøen [14] reported only one case of psy- Correspondence: jesper.dammeyer@psy.ku.dk chosis among 28 individuals with Usher syndrome and Department of Psychology, University of Copenhagen, Øster Farimagsgade Nuutila [15] reported mere 4.5% of individuals with 2A, 1353 København K, Denmark Full list of author information is available at the end of the article © 2012 Dammeyer; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Dammeyer Behavioral and Brain Functions 2012, 8:16 Page 2 of 5 http://www.behavioralandbrainfunctions.com/content/8/1/16 Usher syndrome to be psychotic in a study of 133 indi- parents. The consultants had close contact to the chil- viduals. Mental retardation [16], anorexia nervosa [17] dren and their families. Informed consent was obtained and ADHD [4] have also been discussed or reported from parents or legal guardians. All agreed to upon in case-studies investigating Usher syndrome. participate. Stress, anxiety, social isolation and depression are other Included in this study is information about the chil- mental health related issues that are proposed to be dren regarding age, gender, language modality (oral lan- associated with Usher syndrome and the loss of hearing guage, sign-language, or preverbal communication), type and vision [18,19]. Although a number of studies indi- of school/institution (school for deaf, blind or deafblind, cate that Usher syndrome might be associated with dif- special school not specialized for sensory loss, or main- ferent mental and behavioral disorders, most of the stream school), mental and behavioral diagnoses as well studies are only based on case studies. Very few survey as other medical diagnoses. Information about the men- studies have been made and none within the last two tal and behavioral disorders was obtained from the case decades. records. To ensure data validity, the case records were In Scandinavia some clinical professionals have analyzed by the author to confirm that all diagnoses observed that children with Usher Syndrome face differ- were made by medical specialists (psychiatrists) with ent kinds of mental and behavioral difficulties from knowledge of assessing children with dual sensory loss. early childhood. Until now no systematic studies have The case records were also analyzed for whether stan- been reported on the prevalence of mental and beha- dardized assessment procedures and tools had been vioral disorders among children with Usher syndrome. used (Leiter-R [23] or a similar instrument for assessing The aim of this study is to investigate the prevalence mental retardation, Autism Diagnostic Observation and characteristics of mental and behavioral disorders Schedule-Generic (ADOS-G) [24] or a similar instru- among all children known to be suffering from Usher ment for assessing autism spectrum disorders, etc.). syndrome in Denmark. The Strengths and Difficulties Questionnaire (SDQ) [25] was also included. The SDQ is a short and easy Methods behavioral screening questionnaire that asks about chil- Participants dren’s and teenagers’ psychosocial difficulties. SDQ has All children and adolescents, 0-17 years of age, known been translated into Danish [26]. The version for tea- to have Usher syndrome through the national service chersand parentswas used.The SDQcontainsitems system in Denmark (Center for Deafblindness and Hear- like “has at least one good friend,”“often loses temper,” ing Impairment in the city of Aalborg offer services for and “often lies or cheats”. The teacher or the parent is able to answer: “not true,”“somewhat true,” or “certainly children with Usher syndrome in Denmark) were included in the study. This amounted to 26 children true.” The SDQ is designed for children from 4 to 16 with Usher syndrome. All Usher syndrome diagnoses years. The SDQ gives an overall score from 0 to 40, were clinically confirmed; RP by electroretinography where 0 indicates no problems and 40 indicates a signif- (ERG) and hearing loss by standard hearing tests com- icant number of problems. Hintermair [27] has evalu- pleted by a clinical audiologist. In 12 of the cases Usher ated the psychometric properties of the SDQ and found syndrome was also confirmed by gene tests. Given an it to be reliable and valid to use among children who estimated prevalence of Usher syndrome at 3.5 to 6.2 are deaf or hard-of-hearing. per 100,000 inhabitants [20-22] the 26 children repre- sent 36% to 65% of the total population of children with Results Usher syndrome in Denmark. About the population The children were between 3 and 17 years of age (M Seventeen of the children went to a school for the deaf =11, SD =4.2) and12 were boys. Twenty caseswere or hearing impaired, 5 to mainstream schools (including diagnosed with Usher type I, and 4 cases with type II. 3 of the 4 children with Usher type II), and 4 to special There were no cases with type III. No real conclusions schools without a specialization for children with sen- could be made for the remaining 2 cases (Usher type III sory impairment (2 children at schools for children with was excluded because of stationary congenital hearing autism, 1 at a school for children with mental retarda- loss). tion, and 1 at a school for children with speech- and language disorder). Four children used sign language, 20 Method and procedure oral language, and 2 preverbal communication. The chil- Information was obtained from the medical case records dren using preverbal communication were the two chil- using a questionnaire form completed by deafblind con- dren attending schools for children with autism. sultants from the national service (Center for Deafblind- One child was known to have Kartagener Syndrome ness and Hearing Impairment) in collaboration with the and one Polycystic Ovary Syndrome. Dammeyer Behavioral and Brain Functions 2012, 8:16 Page 3 of 5 http://www.behavioralandbrainfunctions.com/content/8/1/16 Table 1 Nine cases with Usher syndrome and current or previous diagnosed mental or behavior disorders Age Gender Usher type Mental or behavioral diagnose (age at diagnose) 16 Girl I (type unknown) Schizophrenia, mild mental retardation (8-) 15 Boy I (type unknown) Atypical autism, severe mental retardation (2-) 11 Boy I (type unknown) Atypical autism, mild mental retardation (3-) 12 Boy I (type unknown) Mild mental retardation (4-) 14 Girl IIA Conduct disorder (5-) 13 Boy I (type unknown) Conduct disorder (10-) 15 Boy IB Atypical autism (3-6) 16 Boy I (type unknown) Eating disorder (10-11) 11 Boy (type unknown) Conduct disorder (4-8) Another 17 children had never had any mental or behavioral disorders Mental and behavioral disorders and psychosocial congruent with results reported by Nuutila [15] and difficulties Grøndahl and Mjøen [14] using samples of 133 and 89 As listed in Table 1 six (23%) of the children with Usher adults with Usher syndrome, respectively. Among the Syndrome had a mental and behavioral disorder: 1 with children without mental and behavioral disorders around schizophrenia and mild mental retardation (girl 16 years one third was found to have psychosocial difficulties. All of age Usher type I), 1 with atypical autism and severe together, 11 children (42%) faced neither mental and mental retardation (boy 15 years of age Usher type I), 1 behavioral disorder nor psychosocial difficulties. with atypical autism and mild mental retardation (boy Two major explanations for a higher incidence of 11 years of age Usher type I), 1 with mild mental retar- mental and behavioral difficulties among children and dation (boy 12 years of age Usher type I), and 2 with adults with Usher syndrome can be stated. 1) Some conduct disorder (girl 14 years of age Usher type II, boy argue that the progressive loss of vision results in severe 13 years of age Usher type I). Among the remaining 20 stress and symptoms of mental and behavioral disorder. children, 3 (12%) had previous a mental or behavioral Case-studies report that mental and behavioral symp- disorder: 1 previous atypical autism (boy Usher type I), toms in patients with Usher syndrome developed simul- 1 previous eating disorder (boy Usher type I), and 1 pre- taneously to the loss of vision. It has been suggested vious conduct disorder (boy Usher type unknown). that they are reactive symptoms to severe stress Seventeen children (65%) had never had any mental or [5,12,13]. In addition to stress-related responses imposed behavioral disorders. by progressive loss of vision, dual sensory loss may be The SDQ was completed for each of the 20 children associated with a higher prevalence of mental and beha- with-out any current mental or behavioral disorder vioral disorders because of severe communicative diffi- except for two children (1 was younger than 4 years of culties [29]. Among adults with acquired deafblindness age, 1 older than 16 years of age). Since the SDQ McDonnall [30] found that communication and social reflects symptoms of mental and behavioral disorders support was important in order to avoid the experience [25] it was not administered to the children with current of depression. The communicative difficulties caused by mental or behavioral disorders. The mean score of the the dual sensory loss, increase the risk of depression. SDQ was 11.4 (SD = 5.7) with the lowest score of 2 and Intervention by means of communication and language the highest of 25. In a normal Swedish population of rehabilitation is found to be important in preventing 900 children, Smedje et al. [28] selected a cut-off score mental and behavioral disorders and psychosocial diffi- th of 14 (90 percentile) on the SDQ for both boys and culties. This rehabilitation is also important among chil- girls. Using the cut-off score of 14 in this study shows dren with hearing impairment alone [31-36] and people that 5 children (27%) experienced psychosocial with deafblindness [29,37,38]. difficulties. 2) The second possible explanation for an association between Usher syndrome and mental and behavioral Discussion disorders is that some genes are predisposed to both Mental and behavioral disorders were found among a Usher syndrome and for example schizophrenia [8]. Stu- quarter (23%) of the children with Usher syndrome. The dies of families with more than one member with Usher types of disorders observed were not uniform and syndrome and schizophrenia support this hypothesis included atypical autism, mental retardation, schizophre- [11,16,39]. But until now, no specific genes or mutations nia, and conduct disorder. The number of individuals have been reported as being suspected candidates. Men- found with schizophrenia in this study (1 child) is tal and behavioral disorders may also be a consequence Dammeyer Behavioral and Brain Functions 2012, 8:16 Page 4 of 5 http://www.behavioralandbrainfunctions.com/content/8/1/16 of brain abnormalities associated with Usher syndrome from early childhood and throughout adolescence includ- [8]. Schaefer and colleagues [40] found that the mea- ing social, cognitive and communicative functioning in sured volume of the brain was significantly smaller com- addition to vision, hearing, and balance problems. In Den- pared to normal controls and Koizumi et al. [10] found mark 3-4 deafblind consultants work full time supporting a global degeneration of the brain in one case with children with Usher syndrome, their families, and profes- Usher syndrome and schizophrenia. Similar to the sur- sionals at the schools where the children attend. The ser- veys by Nuutila [15] and Grøndahl and Mjøen [14] this vice is financed by the Danish government. study found that only some individuals with Usher syn- drome had mental and behavioral disorders and the Limitations nomenclature of disorders was not uniform. Either dif- As estimated this study only included 36% to 65% of the ferent Usher genes are associated with different kinds of total population of children with Usher syndrome in Den- mental and behavioral disorders, or another explanation mark, this may result in sampling error. Children with may be the necessary. Usher type II and III, with both good vision and hearing, A developmental psychopathology perspective [41] of in mainstream schools may not be diagnosed with Usher the dynamic interplay of physiological, genetic, social, syndrome before they reach late adolescence and are cognitive, and cultural influences across time may be use- thereforenot knownbythe national servicesystemfor ful to understand the heterogenic picture of mental and children with Usher syndrome and are not included in behavioral disorders among children with Usher syn- this study. These children are probably without any ser- drome. Given the combination and number of disabilities ious psychological disturbances. Similarly, some children (hearing, vision and balance), children with Usher syn- with Usher syndrome and severe mental retardation may drome may face more barriers to language, social and not be assessed for vision and hearing impairment and cognitive development compared to children with hear- therefore also not diagnosed or known by the national ser- ing loss alone. Even minor vision impairment may in vice system and thereby not included in this study. Given combination with congenital hearing loss increase the this possible sample error the population of this study may child’s difficulties developing useful language abilities. not be comparable with other populations. Due to the sum of barriers, children with Usher syn- This is a first study of mental and behavior disorders drome may become more vulnerable towards developing among children and adolescence with Usher syndrome. mental and behavioral disorders. More research is needed More research is needed in other populations, using to learn more about this dynamic interplay. other assessment tools and a control group. Several authors have asserted that there is an over- diagnosis of autism in persons with sensory impairments Conclusion [42-44]. Communicative impairment in the case of indi- Different kinds of mental and behavioral disorders were viduals with dual sensory loss is similar to symptoms of found among children with Usher syndrome. Some dif- autism or mental retardation [45]. Such symptoms ferent mechanisms that can influence the development among children with sensory disabilities sometimes dis- of mental and behavioral disorders can be stated: Genes appear, when visual, tactile or oral communication has associated both with Usher syndrome and mental disor- adequately been developed. This was the case for one of ders, reaction to stress due to progressive loss of vision, the children in this study. and the dynamic interplay of hearing, vision, and lan- guage impairment. Monitoring the child’s social, cogni- Assessment and support tive and communicative development is important for Like any other organic or somatic cause to mental and reducing the risk of developing mental and behavioral behavioral disorders (for example head trauma, tumour, disorders. Clinical support to individuals with Ushers drug abuse) assessing and treating the vision and hear- syndrome may be needed in childhood before the mani- ing impairment is the first step in the case of Usher syn- festation of vision impairment. drome. Treatment of mental and behavioral disorders among children with Usher syndrome starts with devel- Abbreviations ADOS-G: Autism Diagnostic Observation Schedule-Generic; ERG: oping the child’s communication to reduce the negative Electroretinography; RP: Retinitis pigmentosa; SDQ: Strengths and Difficulties impact of dual sensory loss [29]. Questionnaire. Assessing mental and behavioral disorders among chil- Acknowledgements dren with Usher syndrome using traditional tests and The author wants to thank Bente Ramsing and the deafblind consultants at diagnostic procedures is often difficult due to the chil- The Centre for Deafblindness and Hearing Impairment for data retrieval. dren’s dual sensory loss and communication deficiencies Thanks to the children with Usher syndrome and their parents. No financial support or conflict of interest. [6,46,47]. Monitoring of the child’s development is needed Dammeyer Behavioral and Brain Functions 2012, 8:16 Page 5 of 5 http://www.behavioralandbrainfunctions.com/content/8/1/16 Author details 23. Roid GH, Miller LJ: Examiner’s Manual, Leiter International Performance Scale - Revised Wheat Lane, IL: Stoelting Company; 1997. Department of Psychology, University of Copenhagen, Øster Farimagsgade 24. Lord C, Risi S, Lambrecht L, Cook EH Jr, Leventhal BL, DiLavore PC, 2A, 1353 København K, Denmark. Centre for Deafblindness and Hearing Pickles A, Rutter M: The Autism Diagnostic Observation Schedule-Generic: Impairment, Aalborg, Denmark. A Standard Measure of Social and Communication Deficits Associated with the Spectrum of Autism. J Autism Dev 2000, 30(3):205-223. Authors’ contributions 25. Goodman R: The Strengths and Difficulties Questionnaire: a research JD carried out the survey study, all data analysis and drafted the manuscript. note. J Child Psychol Psychiatry 1997, 38(5):581-586. 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Hindley PA: Child and Adolescent Psychiatry. In Mental health and Deafness. 6. Hess-Röver J, Crichton J, Byrne K, Holland AJ: Diagnosis and treatment of a Edited by: Hindley P, Kitson N. London, Philadelphia: Whurr; 2000:42-74. severe psychotic illness in a man with dual severe sensory impairments 34. Hindley PA: Mental health problems in deaf children. Curr Paediatr 2005, caused by the presence of Usher syndrome. J Intellect Disabil Res 1999, 15(2):114-119. 43(Pt 5):428-434. 35. Meadow KP: Early manual communication in relation to the deaf child’s 7. Jumaian A, Fergusson K: Psychosis in a patient with Usher syndrome: a intellectual, social, and communicative functioning. J Deaf Stud Deaf Educ case report. East Mediterr Health J 2003, 9:215-218. 2005, 10(4):321-329. 8. McDonald C, Kenna P, Larkin T: Retinitis pigmentosa and schizophrenia. 36. Bond D: Mental Health in Children who are Deaf and have multiple Eur Psychiatry 1998, 13:423-426. Disabilities. In Mental Health and Deafness. Edited by: Hindley P, Kitson N. 9. Viala A, Nicot T, Levy F, Vacheron MN: A case of Usher’s syndrome London, Philadelphia: Whurr; 2000:127-148. associated with psychotic symptoms: diagnosis and follow-up in a 37. Janssen M, Rødbroe I: Communication and Congenital Deafblindness II: psychiatric unit. Encephale 2009, 35:286-291. Contact and Social interaction Aalborg, Denmark: Materialecentret; 2007. 10. Koizumi J, Ofuku K, Sakuma K, Shiraishi H, Iio M, Nawano S: CNS changes in 38. Rødbroe I, Souriau J: Communication. In A guide to planning and support Usher’s syndrome with mental disorder: CT, MRI and PET findings. J individuals who are deafblind. Edited by: McInnes JM. Toronto: University of Neurol Neurosurg Psychiatry 1988, 51:987-990. Toronto Press; 1999:119-165. 11. Wu CY, Chiu CC: Usher syndrome with psychotic symptoms: two cases in 39. Karjalainen S, Teräsvirta M, Kärjä J, Kääriäinen H: An unusual otological the same family. 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Hobson RP, Brown R, Minter ME, Lee A: ’Autism’ revisited: the case of Genet 1986, 30:14-28. congenital blindness. In Blindness and Psychological Development in Young 15. Nuutila A: Dystrophia retinae pigmentosa-dysacusis syndrome (DRD): a Children. Edited by: Lewis V, Collis GM. Leicester: British Psychological study of the Usher- or Hallgren syndrome. J Genet Hum 1970, 18:57-88. Society; 1997:99-115. 16. Sharp CW, Muir WJ, Blackwood DH, Walker M, Gosden C, St Clair DM: 43. Andrews R, Wyver S: Autistic tendencies: Are there different pathways for Schizophrenia and mental retardation associated in a pedigree with retinitis blindness and Autism Spectrum Disorder? Bri J Vis Impair 2005, 23(2):52-57. pigmentosa and sensorineural deafness. Am J Med Genet 1994, 54:354-360. 44. Cass H: Visual Impairment and Autism. Autism 1998, 2(2):117-138. 17. Chapman V, Valmana A, Lacey JH: A case report of Usher’s syndrome and 45. Hoevenaars-van Boom den MA, Antonissen AC, Knoors H, Vervloed MP: anorexia nervosa. Int J Eat Disord 1998, 23:223-226. Differentiating characteristics of deafblindness and autism in people 18. Miner ID: Psychosocial implications of Usher syndrome, Type 1, with congenital deafblindness and profound intellectual disability. J throughout the life cycle. J Visual Impair Blin 1995, 89:287-297. Intellect Disabil Res 2009, 53(6):548-558. 19. Damen GWJA, Krabbe PFM, Kilsby M, Mylanus EAM: The Usher lifestyle 46. Carvill S: Sensory impairments, intellectual disability and psychiatry. J survey: maintaining independence: a multi-centre study. Int J Rehabil Res Intellect Disabil Res 2001, 45(Pt 6):467-483. 2005, 28(4):309-328. 47. Ronnberg J, Borg E: A review and evaluation of research on the deaf- 20. Hope CI, Bundey S, Proops D, Fielder AR: Usher syndrome in the city of blind from perceptual, communicative, social and rehabilitative Birmingham - prevalence and clinical classification. Br J Ophthalmol 1997, perspectives. Scand Audiol 2001, 30(2):67-77. 81(1):46-53. 21. Rosenberg T, Haim M, Hauch AM, Parving A: The prevalence of Usher doi:10.1186/1744-9081-8-16 syndrome and other retinal dystrophy-hearing impairment associations. Cite this article as: Dammeyer: Children with Usher syndrome: mental Clin Genet 1997, 51(5):314-321. and behavioral disorders. Behavioral and Brain Functions 2012 8:16. 22. Spandau UH, Rohrschneider K: Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol 2002, 240(6):495-498. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Behavioral and Brain Functions Springer Journals

Children with Usher syndrome: mental and behavioral disorders

Dammeyer, Jesper
Behavioral and Brain Functions , Volume 8 (1) – Mar 27, 2012
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Copyright © 2012 by Dammeyer; licensee BioMed Central Ltd.
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Biomedicine; Neurosciences; Neurology; Behavioral Therapy; Psychiatry
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Abstract

Background: Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome. Methods: This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome. Results: Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood. Conclusion: Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders. Keywords: Deafblindness, Dual sensory loss, Mental and behavioral disorders, Usher syndrome, Psychiatry Background been associated with Usher syndrome. To date, seven Usher syndrome is characterized by deafness and a gra- genetic loci for Usher I (USH1B-H) have been mapped dual loss of vision. The hearing loss is sensorineural, on chromosomes 14q32, 11q13.5, 11p15.1, 10q22.1, whereas the vision loss is associated with retinitis pig- 21q21 and 10p-22, 17q24-25. Usher II is associated with mentosa (RP), a degeneration of the retinal cells. Three mutations in three genes (USH2A, C-D). Mutations in subtypes of Usher syndrome have been found [1]. Peo- the USH2A gene on chromosome 1q41 are the most ple with Usher I are congenitally deaf, and start to lose common (85% of all cases with Usher II). Only one vision early in life. They also face balance difficulties gene has been linked to Usher III. Usher III is caused by due to vestibular system problems. Individuals with mutations in the USH3A (clarin-1) gene, mapped on Usher II also experience hearing loss but are not pro- 3q21-q25 [2]. foundly deaf. They have no noticeable problems with A large amount of gene research has been conducted their balance. Individuals with Usher syndrome III are on Usher Syndrome [2], but only a small amount of notcongenitallydeaf,but graduallylosetheir senseof research has focused on psychiatric and psychological issues. Different mental and behavioral disorders have hearing and vision. Some individuals with Usher III experience balance difficulties while others do not [2,3]. been reported among adults. Psychosis (schizophrenic Because of the balance difficulties many children with type picture) has been discussed in some case studies Usher take longer to learn to walk. Several genes have [4-12] and Hallgren [13] reported that 23% of 114 indi- viduals with Usher syndrome were psychotic. However, Grøndahl and Mjøen [14] reported only one case of psy- Correspondence: jesper.dammeyer@psy.ku.dk chosis among 28 individuals with Usher syndrome and Department of Psychology, University of Copenhagen, Øster Farimagsgade Nuutila [15] reported mere 4.5% of individuals with 2A, 1353 København K, Denmark Full list of author information is available at the end of the article © 2012 Dammeyer; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Dammeyer Behavioral and Brain Functions 2012, 8:16 Page 2 of 5 http://www.behavioralandbrainfunctions.com/content/8/1/16 Usher syndrome to be psychotic in a study of 133 indi- parents. The consultants had close contact to the chil- viduals. Mental retardation [16], anorexia nervosa [17] dren and their families. Informed consent was obtained and ADHD [4] have also been discussed or reported from parents or legal guardians. All agreed to upon in case-studies investigating Usher syndrome. participate. Stress, anxiety, social isolation and depression are other Included in this study is information about the chil- mental health related issues that are proposed to be dren regarding age, gender, language modality (oral lan- associated with Usher syndrome and the loss of hearing guage, sign-language, or preverbal communication), type and vision [18,19]. Although a number of studies indi- of school/institution (school for deaf, blind or deafblind, cate that Usher syndrome might be associated with dif- special school not specialized for sensory loss, or main- ferent mental and behavioral disorders, most of the stream school), mental and behavioral diagnoses as well studies are only based on case studies. Very few survey as other medical diagnoses. Information about the men- studies have been made and none within the last two tal and behavioral disorders was obtained from the case decades. records. To ensure data validity, the case records were In Scandinavia some clinical professionals have analyzed by the author to confirm that all diagnoses observed that children with Usher Syndrome face differ- were made by medical specialists (psychiatrists) with ent kinds of mental and behavioral difficulties from knowledge of assessing children with dual sensory loss. early childhood. Until now no systematic studies have The case records were also analyzed for whether stan- been reported on the prevalence of mental and beha- dardized assessment procedures and tools had been vioral disorders among children with Usher syndrome. used (Leiter-R [23] or a similar instrument for assessing The aim of this study is to investigate the prevalence mental retardation, Autism Diagnostic Observation and characteristics of mental and behavioral disorders Schedule-Generic (ADOS-G) [24] or a similar instru- among all children known to be suffering from Usher ment for assessing autism spectrum disorders, etc.). syndrome in Denmark. The Strengths and Difficulties Questionnaire (SDQ) [25] was also included. The SDQ is a short and easy Methods behavioral screening questionnaire that asks about chil- Participants dren’s and teenagers’ psychosocial difficulties. SDQ has All children and adolescents, 0-17 years of age, known been translated into Danish [26]. The version for tea- to have Usher syndrome through the national service chersand parentswas used.The SDQcontainsitems system in Denmark (Center for Deafblindness and Hear- like “has at least one good friend,”“often loses temper,” ing Impairment in the city of Aalborg offer services for and “often lies or cheats”. The teacher or the parent is able to answer: “not true,”“somewhat true,” or “certainly children with Usher syndrome in Denmark) were included in the study. This amounted to 26 children true.” The SDQ is designed for children from 4 to 16 with Usher syndrome. All Usher syndrome diagnoses years. The SDQ gives an overall score from 0 to 40, were clinically confirmed; RP by electroretinography where 0 indicates no problems and 40 indicates a signif- (ERG) and hearing loss by standard hearing tests com- icant number of problems. Hintermair [27] has evalu- pleted by a clinical audiologist. In 12 of the cases Usher ated the psychometric properties of the SDQ and found syndrome was also confirmed by gene tests. Given an it to be reliable and valid to use among children who estimated prevalence of Usher syndrome at 3.5 to 6.2 are deaf or hard-of-hearing. per 100,000 inhabitants [20-22] the 26 children repre- sent 36% to 65% of the total population of children with Results Usher syndrome in Denmark. About the population The children were between 3 and 17 years of age (M Seventeen of the children went to a school for the deaf =11, SD =4.2) and12 were boys. Twenty caseswere or hearing impaired, 5 to mainstream schools (including diagnosed with Usher type I, and 4 cases with type II. 3 of the 4 children with Usher type II), and 4 to special There were no cases with type III. No real conclusions schools without a specialization for children with sen- could be made for the remaining 2 cases (Usher type III sory impairment (2 children at schools for children with was excluded because of stationary congenital hearing autism, 1 at a school for children with mental retarda- loss). tion, and 1 at a school for children with speech- and language disorder). Four children used sign language, 20 Method and procedure oral language, and 2 preverbal communication. The chil- Information was obtained from the medical case records dren using preverbal communication were the two chil- using a questionnaire form completed by deafblind con- dren attending schools for children with autism. sultants from the national service (Center for Deafblind- One child was known to have Kartagener Syndrome ness and Hearing Impairment) in collaboration with the and one Polycystic Ovary Syndrome. Dammeyer Behavioral and Brain Functions 2012, 8:16 Page 3 of 5 http://www.behavioralandbrainfunctions.com/content/8/1/16 Table 1 Nine cases with Usher syndrome and current or previous diagnosed mental or behavior disorders Age Gender Usher type Mental or behavioral diagnose (age at diagnose) 16 Girl I (type unknown) Schizophrenia, mild mental retardation (8-) 15 Boy I (type unknown) Atypical autism, severe mental retardation (2-) 11 Boy I (type unknown) Atypical autism, mild mental retardation (3-) 12 Boy I (type unknown) Mild mental retardation (4-) 14 Girl IIA Conduct disorder (5-) 13 Boy I (type unknown) Conduct disorder (10-) 15 Boy IB Atypical autism (3-6) 16 Boy I (type unknown) Eating disorder (10-11) 11 Boy (type unknown) Conduct disorder (4-8) Another 17 children had never had any mental or behavioral disorders Mental and behavioral disorders and psychosocial congruent with results reported by Nuutila [15] and difficulties Grøndahl and Mjøen [14] using samples of 133 and 89 As listed in Table 1 six (23%) of the children with Usher adults with Usher syndrome, respectively. Among the Syndrome had a mental and behavioral disorder: 1 with children without mental and behavioral disorders around schizophrenia and mild mental retardation (girl 16 years one third was found to have psychosocial difficulties. All of age Usher type I), 1 with atypical autism and severe together, 11 children (42%) faced neither mental and mental retardation (boy 15 years of age Usher type I), 1 behavioral disorder nor psychosocial difficulties. with atypical autism and mild mental retardation (boy Two major explanations for a higher incidence of 11 years of age Usher type I), 1 with mild mental retar- mental and behavioral difficulties among children and dation (boy 12 years of age Usher type I), and 2 with adults with Usher syndrome can be stated. 1) Some conduct disorder (girl 14 years of age Usher type II, boy argue that the progressive loss of vision results in severe 13 years of age Usher type I). Among the remaining 20 stress and symptoms of mental and behavioral disorder. children, 3 (12%) had previous a mental or behavioral Case-studies report that mental and behavioral symp- disorder: 1 previous atypical autism (boy Usher type I), toms in patients with Usher syndrome developed simul- 1 previous eating disorder (boy Usher type I), and 1 pre- taneously to the loss of vision. It has been suggested vious conduct disorder (boy Usher type unknown). that they are reactive symptoms to severe stress Seventeen children (65%) had never had any mental or [5,12,13]. In addition to stress-related responses imposed behavioral disorders. by progressive loss of vision, dual sensory loss may be The SDQ was completed for each of the 20 children associated with a higher prevalence of mental and beha- with-out any current mental or behavioral disorder vioral disorders because of severe communicative diffi- except for two children (1 was younger than 4 years of culties [29]. Among adults with acquired deafblindness age, 1 older than 16 years of age). Since the SDQ McDonnall [30] found that communication and social reflects symptoms of mental and behavioral disorders support was important in order to avoid the experience [25] it was not administered to the children with current of depression. The communicative difficulties caused by mental or behavioral disorders. The mean score of the the dual sensory loss, increase the risk of depression. SDQ was 11.4 (SD = 5.7) with the lowest score of 2 and Intervention by means of communication and language the highest of 25. In a normal Swedish population of rehabilitation is found to be important in preventing 900 children, Smedje et al. [28] selected a cut-off score mental and behavioral disorders and psychosocial diffi- th of 14 (90 percentile) on the SDQ for both boys and culties. This rehabilitation is also important among chil- girls. Using the cut-off score of 14 in this study shows dren with hearing impairment alone [31-36] and people that 5 children (27%) experienced psychosocial with deafblindness [29,37,38]. difficulties. 2) The second possible explanation for an association between Usher syndrome and mental and behavioral Discussion disorders is that some genes are predisposed to both Mental and behavioral disorders were found among a Usher syndrome and for example schizophrenia [8]. Stu- quarter (23%) of the children with Usher syndrome. The dies of families with more than one member with Usher types of disorders observed were not uniform and syndrome and schizophrenia support this hypothesis included atypical autism, mental retardation, schizophre- [11,16,39]. But until now, no specific genes or mutations nia, and conduct disorder. The number of individuals have been reported as being suspected candidates. Men- found with schizophrenia in this study (1 child) is tal and behavioral disorders may also be a consequence Dammeyer Behavioral and Brain Functions 2012, 8:16 Page 4 of 5 http://www.behavioralandbrainfunctions.com/content/8/1/16 of brain abnormalities associated with Usher syndrome from early childhood and throughout adolescence includ- [8]. Schaefer and colleagues [40] found that the mea- ing social, cognitive and communicative functioning in sured volume of the brain was significantly smaller com- addition to vision, hearing, and balance problems. In Den- pared to normal controls and Koizumi et al. [10] found mark 3-4 deafblind consultants work full time supporting a global degeneration of the brain in one case with children with Usher syndrome, their families, and profes- Usher syndrome and schizophrenia. Similar to the sur- sionals at the schools where the children attend. The ser- veys by Nuutila [15] and Grøndahl and Mjøen [14] this vice is financed by the Danish government. study found that only some individuals with Usher syn- drome had mental and behavioral disorders and the Limitations nomenclature of disorders was not uniform. Either dif- As estimated this study only included 36% to 65% of the ferent Usher genes are associated with different kinds of total population of children with Usher syndrome in Den- mental and behavioral disorders, or another explanation mark, this may result in sampling error. Children with may be the necessary. Usher type II and III, with both good vision and hearing, A developmental psychopathology perspective [41] of in mainstream schools may not be diagnosed with Usher the dynamic interplay of physiological, genetic, social, syndrome before they reach late adolescence and are cognitive, and cultural influences across time may be use- thereforenot knownbythe national servicesystemfor ful to understand the heterogenic picture of mental and children with Usher syndrome and are not included in behavioral disorders among children with Usher syn- this study. These children are probably without any ser- drome. Given the combination and number of disabilities ious psychological disturbances. Similarly, some children (hearing, vision and balance), children with Usher syn- with Usher syndrome and severe mental retardation may drome may face more barriers to language, social and not be assessed for vision and hearing impairment and cognitive development compared to children with hear- therefore also not diagnosed or known by the national ser- ing loss alone. Even minor vision impairment may in vice system and thereby not included in this study. Given combination with congenital hearing loss increase the this possible sample error the population of this study may child’s difficulties developing useful language abilities. not be comparable with other populations. Due to the sum of barriers, children with Usher syn- This is a first study of mental and behavior disorders drome may become more vulnerable towards developing among children and adolescence with Usher syndrome. mental and behavioral disorders. More research is needed More research is needed in other populations, using to learn more about this dynamic interplay. other assessment tools and a control group. Several authors have asserted that there is an over- diagnosis of autism in persons with sensory impairments Conclusion [42-44]. Communicative impairment in the case of indi- Different kinds of mental and behavioral disorders were viduals with dual sensory loss is similar to symptoms of found among children with Usher syndrome. Some dif- autism or mental retardation [45]. Such symptoms ferent mechanisms that can influence the development among children with sensory disabilities sometimes dis- of mental and behavioral disorders can be stated: Genes appear, when visual, tactile or oral communication has associated both with Usher syndrome and mental disor- adequately been developed. This was the case for one of ders, reaction to stress due to progressive loss of vision, the children in this study. and the dynamic interplay of hearing, vision, and lan- guage impairment. Monitoring the child’s social, cogni- Assessment and support tive and communicative development is important for Like any other organic or somatic cause to mental and reducing the risk of developing mental and behavioral behavioral disorders (for example head trauma, tumour, disorders. Clinical support to individuals with Ushers drug abuse) assessing and treating the vision and hear- syndrome may be needed in childhood before the mani- ing impairment is the first step in the case of Usher syn- festation of vision impairment. drome. Treatment of mental and behavioral disorders among children with Usher syndrome starts with devel- Abbreviations ADOS-G: Autism Diagnostic Observation Schedule-Generic; ERG: oping the child’s communication to reduce the negative Electroretinography; RP: Retinitis pigmentosa; SDQ: Strengths and Difficulties impact of dual sensory loss [29]. Questionnaire. Assessing mental and behavioral disorders among chil- Acknowledgements dren with Usher syndrome using traditional tests and The author wants to thank Bente Ramsing and the deafblind consultants at diagnostic procedures is often difficult due to the chil- The Centre for Deafblindness and Hearing Impairment for data retrieval. dren’s dual sensory loss and communication deficiencies Thanks to the children with Usher syndrome and their parents. No financial support or conflict of interest. [6,46,47]. 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