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Year : 2017  |  Volume : 22  |  Issue : 2  |  Page : 129-131

A case report of Usher's syndrome with psychosis: Challenges in diagnosis and management

1 Department of Psychiatry, Govind Ballabh Pant Institute of Medical Education and Research, New Delhi, India
2 Department of Psychiatry, Hamdard Institute of Medical Sciences and Research, New Delhi, India

Date of Web Publication2-Apr-2018

Correspondence Address:
Deeksha Elwadhi
Department of Psychiatry, Hamdard Institute of Medical Sciences and Research, Jamia Hamdard, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmhhb.jmhhb_31_17

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Usher's syndrome is a heterogeneous autosomal recessive disorder characterized by dual sensory impairment in the form of profound congenital hearing loss and progressive visual loss due to retinal degeneration. There are only a few reports describing patients with Usher's syndrome presenting with psychotic features, and the exact etiology of its psychiatric manifestation is not clearly known. Herein, the authors report a case of Usher's syndrome with psychotic symptoms. Furthermore, the authors discuss the possible etiologies of psychotic symptoms in such cases and the challenges faced while assessing these symptoms in patients with sensory impairment.

Keywords: Hearing loss, psychotic disorder, sensory impairment, usher's syndrome

How to cite this article:
Kamran A, Elwadhi D, Bhoi R, Malhotra M. A case report of Usher's syndrome with psychosis: Challenges in diagnosis and management. J Mental Health Hum Behav 2017;22:129-31

How to cite this URL:
Kamran A, Elwadhi D, Bhoi R, Malhotra M. A case report of Usher's syndrome with psychosis: Challenges in diagnosis and management. J Mental Health Hum Behav [serial online] 2017 [cited 2023 Jun 9];22:129-31. Available from: https://www.jmhhb.org/text.asp?2017/22/2/129/229102

  Introduction Top

The prevalence rate of Usher's syndrome may range from 2 to 6.2/100,000[1],[2] and 23.3% of patients of Usher's syndrome have been found to have psychosis.[3]

Research on hearing-impaired psychiatric patients is mostly from the west. Epidemiological studies report varying prevalence rates of mental disorders in these patients between 15% and 60%.[4] Most of the psychiatrists are not trained in the sign language to understand the psychopathology and rely on behavioral observations.

Herein, we report a case of a young girl with Usher's syndrome with psychosis, and try to highlight the challenges that may be encountered in assessment and management of such patients.

  Case Report Top

Miss V, a 20-year-old female patient presented to psychiatry OPD of a tertiary care institute with behavioral changes since 1½ years. The patient was delivered by cesarean section at 40 weeks gestation, and the mother had one episode of generalized tonic-clonic seizure during the second-trimester pregnancy. As per patient's mother, motor milestones were achieved at the appropriate age. However, there was a delay in language milestones with patient communicating in mono- and bi-syllables only even by the age of 3 years. Nonresponse to verbal cues and delay in speech acquisition in the patient prompted an Ear Nose Throat workup, which revealed profound sensorineural hearing loss on pure tone audiometry. The patient started complaining of decreased vision, especially at night at the age of 5; visual acuity has progressively decreased since then. In the past 3 years, the patient has been having difficulty in maintaining balance with frequent falls.

She presented with withdrawn behavior and fearfulness for initial 1 year followed by exacerbation in behavioral changes, disturbed sleep, and appetite over the past 6 months. In the past 2 months, her mother also noticed the patient muttering and smiling to self. Miss V would report that she could hear and see people who would grope her, slap her, and give her commands to kill herself. The patient was not able to explain clearly regarding the “auditory” component of voices and sometimes would report of seeing or feeling them. She had two self-harm attempts, which she attributed to these “voices.” There is history of obsessive compulsive disorder and seizure disorder in the mother; depression and suicide in father.

Since patient could not communicate with doctors and was not professionally trained in any sign language, history of illness was mainly gathered from the mother and behavioral observation. Furthermore, patient was able to communicate with some sounds, hand gestures that were deciphered by the mother and drawing pictures. ENT workup revealed profound sensorineural hearing loss by pure tone audiometry. Ophthalmological check-up revealed bilateral horizontal nystagmus, diminished visual acuity and macular scar. Patient's noncontrast computed tomography head, magnetic resonance imaging (MRI) brain, electroencephalogram and MRI orbit revealed no abnormality. Other blood investigations were within normal limits.

Taking into consideration, the triad of symptoms of hearing loss, vestibular dysfunction, and retinal degeneration a diagnosis of Usher's syndrome 1 was made with a psychiatric diagnosis of other nonorganic psychotic disorders (ICD-10 code F28).[5]

She was started on risperidone 2 mg, increased to 6 mg in 3 weeks. She started showing improvement within 1 month of initiating treatment with minimal side effects. Her brief Psychiatric Rating Scale score decreased from 68 at the time of admission to 30 at discharge. Activity scheduling, yoga and occupational therapy was started. However, the patient could cooperate minimally due to multiple sensory deficits.

  Discussion Top

Three subtypes of Usher's syndrome are reported as follows:[6] Usher I presents with congenital deafness, early loss of vision and balance difficulties due to problems of the vestibular system, type II patients experience hearing loss but are not profoundly deaf, with no noticeable problems in their balance and individuals with type III are not congenitally deaf, but gradually lose their sense of hearing and vision.[7],[8] Genetic testing is proposed; however, due to the nonspecificity of genetic loci has not been found to be of much use.

Various mechanisms can be proposed to explain the high incidence of behavioral problems in these patients. A progressive loss of vision in addition to multiple sensory impairments leads to extreme stress and development of mental disorders. There is a dynamic interplay of multiple disabilities leading to social isolation and communication barriers which increases disorganization and may present with a psychotic picture.[9] A common soil hypothesis needs to be tested regarding the genetic loci associated with Usher's and mental disorders. Neurological abnormalities like smaller brain volume are found in both Usher's and schizophrenia which may be the cause or consequence of the syndrome leading to mental disorders.[10] Psychosis of Usher's syndrome might be secondary to a metabolic degeneration involving the brain more diffusely with reports of focal and diffuse atrophic changes in the supratentorial brain. Studies have shown a significant decrease in intracranial volume and size of the brain and cerebellum with an increase in the size of the subarachnoid spaces in such patients.[11] Prelingually deaf patients have been found to have a deficient development of the theory of mind abilities and affect recognition which contributes to the development of delusional beliefs.[12]

This case highlights many issues of the hearing impaired with minimal speech, especially related to assessment, diagnosis and management which mainly arise due to limited communication and inability to use sign language by examiners. There is no universally accepted method of mental status examination in hearing impaired with minimal speech, and use of available scales may increase the risk of false positive psychotic symptoms. Miss V communicated with only gestures as she did not attend school teaching sign language. It was challenging for the patient to give elaborate descriptions of the phenomenon she experienced as well as for the examiner to discern the special qualities of the patient's inner experience.

Assessment of psychiatric disorders offsets methodological challenges in relation to verbal communication and diagnostic process. The immature language understanding, verbal disfluency and poor vocabulary exhibited by many hearing-impaired hamper accurate psychiatric evaluation.[13]

Barriers in communication are a challenge for patients, mental health workers as well as caregivers with difficulty in assessment, diagnosis, management, and rehabilitation of such patients. Antipsychotic medications are helpful for associated psychotic symptoms, but the rehabilitation services need to be updated for the inclusion of the mentally ill hearing impaired patients. Furthermore, more specialized scales and questions focusing on the behavioral correlates might improve the diagnostic process, particularly in this subpopulation of patients. Training of mental health workers in communication with such patients continues to be a challenge that adversely affects the ability for deaf people to recover from mental health problems.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understand that names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Keats BJ, Corey DP. The usher syndromes. Am J Med Genet 1999;89:158-66.  Back to cited text no. 1
Hallgren B. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study. Acta Psychiatr Scand Suppl 1959;34:1-01.  Back to cited text no. 2
Dammeyer J. Children with usher syndrome: Mental and behavioral disorders. Behav Brain Funct 2012;8:16.  Back to cited text no. 3
Bailly D, Dechoulydelenclave MB, Lauwerier L. Hearing impairment and psychopathological disorders in children and adolescents. Review of the recent literature. Encephale 2003;29:329-37.  Back to cited text no. 4
ICD-10 Classifications of Mental and Behavioural Disorder: Clinical Descriptions and Disgnostic Guidelines. Geneva: World Health Organisation; 1992.  Back to cited text no. 5
Keats BJ, Savas S. Genetic heterogeneity in usher syndrome. Am J Med Genet A 2004;130A: 13-6.  Back to cited text no. 6
Yan D, Liu XZ. Genetics and pathological mechanisms of usher syndrome. J Hum Genet 2010;55:327-35.  Back to cited text no. 7
Williams DS. Usher syndrome: Animal models, retinal function of usher proteins, and prospects for gene therapy. Vision Res 2008;48:433-41.  Back to cited text no. 8
Mangotich M, Misiaszek J. Atypical psychosis in usher's syndrome. Psychosomatics 1983;24:674-5.  Back to cited text no. 9
McDonald C, Kenna P, Larkin T. Retinitis pigmentosa and schizophrenia. Eur Psychiatry 1998;13:423-6.  Back to cited text no. 10
Schaefer GB, Bodensteiner JB, Thompson JN Jr., Kimberling WJ, Craft JM. Volumetric neuroimaging in usher syndrome: Evidence of global involvement. Am J Med Genet 1998;79:1-4.  Back to cited text no. 11
Peterson CC, Slaughter VP. Telling the story of 'theory of mind': Deaf and hearing children's narratives and mental state understanding. Br J Dev Psychol 2006;24:151-79.  Back to cited text no. 12
Landsberger SA, Diaz DR. Identifying and assessing psychosis in deaf psychiatric patients. Curr Psychiatry Rep 2011;13:198-202.  Back to cited text no. 13


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