[Music therapy in adults with cochlear implants : Effects on music perception and subjective sound quality]. / Musiktherapie bei erwachsenen CI-Trägern : Effekte auf die Musikwahrnehmung und die subjektive Klangqualität.

BACKGROUND: People with severe hearing impairments and deafness can achieve good speech comprehension using a cochlear implant (CI), although music perception often remains impaired. A novel concept of music therapy for adults with CI was developed and evaluated in this study. METHODS: This study included 30 adults with a unilateral CI following postlingual deafness. The subjective sound quality of the CI was rated using the hearing implant sound quality index (HISQUI) and musical tests for pitch discrimination, melody recognition and timbre identification were applied. As a control 55 normally hearing persons also completed the musical tests. RESULTS: In comparison to normally hearing subjects CI users showed deficits in the perception of pitch, melody and timbre. Specific effects of therapy were observed in the subjective sound quality of the CI, in pitch discrimination into a high and low pitch range and in timbre identification, while general learning effects were found in melody recognition. CONCLUSION: Music perception shows deficits in CI users compared to normally hearing persons. After individual music therapy in the rehabilitation process, improvements in this delicate area could be achieved.

Music therapy as specific and complementary training for adults after cochlear implantation: A pilot study.

OBJECTIVES: Although cochlear implant (CI) users achieve good speech comprehension, they experience difficulty perceiving music and prosody in speech. As the provision of music training in rehabilitation is limited, a novel concept of music therapy for rehabilitation of adult CI users was developed and evaluated in this pilot study. METHODS: Twelve unilaterally implanted, postlingually deafened CI users attended ten sessions of individualized and standardized training. The training started about 6 weeks after the initial activation of the speech processor. Before and after therapy, psychological and musical tests were applied in order to evaluate the effects of music therapy. CI users completed the musical tests in two conditions: bilateral (CI + contralateral, unimplanted ear) and unilateral (CI only). RESULTS: After therapy, improvements were observed in the subjective sound quality (Hearing Implant Sound Quality Index) and the global score on the self-concept questionnaire (Multidimensional Self-Concept Scales) as well as in the musical subtests for melody recognition and for timbre identification in the unilateral condition. Discussion Preliminary results suggest improvements in subjective hearing and music perception, with an additional increase in global self-concept and enhanced daily listening capacities. CONCLUSIONS: The novel concept of individualized music therapy seems to provide an effective treatment option in the rehabilitation of adult CI users. Further investigations are necessary to evaluate effects in the area of prosody perception and to separate therapy effects from general learning effects in CI rehabilitation.

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.

Cerebral folate transport deficiency is an inherited brain-specific folate transport defect that is caused by mutations in the folate receptor 1 gene coding for folate receptor alpha (FRα). This genetic defect gives rise to a progressive neurological disorder with late infantile onset. We screened 72 children with low 5-methyltetrahydrofolate concentrations in the cerebrospinal fluid and neurological symptoms that developed after infancy. We identified nucleotide alterations in the folate receptor 1 gene in 10 individuals who shared developmental regression, ataxia, profound cerebral hypomyelination and cerebellar atrophy. We found four novel pathogenic alleles, one splice mutation and three missense mutations. Heterologous expression of the missense mutations, including previously described mutants, revealed minor decrease in protein expression but loss of cell surface localization, mistargeting to intracellular compartments and thus absence of cellular binding of folic acid. These results explain the functional loss of folate receptor alpha for all detected folate receptor 1 mutations. Three individuals presenting a milder clinical phenotype revealed very similar biochemical and brain imaging data but partially shared pathogenic alleles with more severely affected patients. Thus, our studies suggest that different clinical severities do not necessarily correlate with residual function of folate receptor alpha mutants and indicate that additional factors contribute to the clinical phenotype in cerebral folate transport deficiency.

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited lysosomal storage diseases and the prototype of childhood onset neurodegenerative disorders. To date, 10 NCL entities (CLN1-CLN10) are known and characterized by accumulation of autofluorescent storage material, age of onset and clinical symptoms. CLN8 was first identified as the causative gene for a late-onset form with progressive epilepsy and mental retardation in Finnish patients. In addition, CLN8 phenotypes were described in Turkish, Israeli and Italian patients with a more rapid progression of visual loss, epilepsy, ataxia and mental decline. Here, we report the first mutations in German (c.611G>T) and Pakistani (c.709G>A) patients. Our findings confirm previous assumptions that the CLN8 variant can occur in many ethnic groups. So far, large CLN gene deletions are only known for the CLN3 gene. Here, we also describe a novel, large CLN8 gene deletion c.544-2566_590del2613 in a Turkish family with a slightly more severe phenotype. Our data indicate that patients with clinical signs of late infantile NCL and characteristic ultrastructural inclusions should also be screened for CLN8 mutations independent of their ethnic origin.