Hans Erik Frölander1, Claes Möller2, Jan D Marshall3, Annette Sundqvist4, Berit Rönnåsen5, Lil Falkensson6, Björn Lyxell4. 1. Health Academy, Örebro University, Örebro SE 701 82, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro SE 701 85, Sweden; The Swedish Institute for Disability Research, Linköping, Sweden; Research on Hearing and Deafness (HEAD) Graduate School, Linköping, Sweden. Electronic address: hans-erik.frolander@spsm.se. 2. Health Academy, Örebro University, Örebro SE 701 82, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro SE 701 85, Sweden; Department of Audiology, Örebro University Hospital, Örebro SE 701 85, Sweden; The Swedish Institute for Disability Research, Linköping, Sweden; The Linnaeus Centre HEAD, Linköping, Sweden. 3. The Jackson laboratory, Bar Harbor, ME, USA. 4. Department of Behavioral Science and Learning, Linköping University, Linköping SE 581 83, Sweden; The Swedish Institute for Disability Research, Linköping, Sweden; The Linnaeus Centre HEAD, Linköping, Sweden. 5. Health Academy, Örebro University, Örebro SE 701 82, Sweden; Audiological Research Centre, Örebro University Hospital, Örebro SE 701 85, Sweden; The Swedish Institute for Disability Research, Linköping, Sweden; Research on Hearing and Deafness (HEAD) Graduate School, Linköping, Sweden. 6. The Swedish National Expert Team for the Diagnoses of Deafblindness, National Resource Centre, Lund, SE 223 50, Sweden.
Abstract
OBJECTIVE: The study focuses on theory-of-mind in adolescents and young adults with Alström syndrome (ALMS). ALMS, an autosomal recessive syndrome causes juvenile blindness, sensorineural hearing loss, cardiomyopathy, endocrinological disorders and metabolic dysfunction. Theory-of-mind (ToM) refers to the ability to impute mental states to one self and to others. Clinical observations have revealed an increased occurrence of deviances in mental state understanding in ALMS. In the present study ToM will be examined and related to working memory (WM), verbal ability and sensory loss. METHODS: Twelve young individuals (16-37 years) with ALMS and 24 nondisabled individuals matched on age, gender and educational level participated. ToM was assessed by means of a multiple task that taxes the ability to understand thoughts and feelings of story characters'. WM was examined by means of a reading span task and verbal ability by means of a vocabulary test. RESULTS: The ALMS group performed at significantly lower levels in ToM tasks and displayed a higher variability in performance than the control group. Individuals with ALMS and a relatively poor level performance provided fewer correct mental state inferences in ToM tasks than ALMS individuals with relatively higher performance levels. ALMS individuals with relatively high performance levels made as many correct inferences in ToM tasks as the control group, but their inferences were more often incomplete. Vocabulary skills and educational level, but not WM-capacity predicted ToM performance. Degree of deafblindness did not have an impact on ToM. Age of onset of visual loss but not hearing loss related to ToM. CONCLUSIONS: The individuals with ALMS display a high degree of heterogeneity in terms of ToM, where some individuals reached performance levels comparable to nondisabled individuals. The results are discussed with respect to how cognitive and verbal abilities and factors related to the disability affect ToM.
OBJECTIVE: The study focuses on theory-of-mind in adolescents and young adults with Alström syndrome (ALMS). ALMS, an autosomal recessive syndrome causes juvenile blindness, sensorineural hearing loss, cardiomyopathy, endocrinological disorders and metabolic dysfunction. Theory-of-mind (ToM) refers to the ability to impute mental states to one self and to others. Clinical observations have revealed an increased occurrence of deviances in mental state understanding in ALMS. In the present study ToM will be examined and related to working memory (WM), verbal ability and sensory loss. METHODS: Twelve young individuals (16-37 years) with ALMS and 24 nondisabled individuals matched on age, gender and educational level participated. ToM was assessed by means of a multiple task that taxes the ability to understand thoughts and feelings of story characters'. WM was examined by means of a reading span task and verbal ability by means of a vocabulary test. RESULTS: The ALMS group performed at significantly lower levels in ToM tasks and displayed a higher variability in performance than the control group. Individuals with ALMS and a relatively poor level performance provided fewer correct mental state inferences in ToM tasks than ALMS individuals with relatively higher performance levels. ALMS individuals with relatively high performance levels made as many correct inferences in ToM tasks as the control group, but their inferences were more often incomplete. Vocabulary skills and educational level, but not WM-capacity predicted ToM performance. Degree of deafblindness did not have an impact on ToM. Age of onset of visual loss but not hearing loss related to ToM. CONCLUSIONS: The individuals with ALMS display a high degree of heterogeneity in terms of ToM, where some individuals reached performance levels comparable to nondisabled individuals. The results are discussed with respect to how cognitive and verbal abilities and factors related to the disability affect ToM.
Authors: Jan D Marshall; Jean Muller; Gayle B Collin; Gabriella Milan; Stephen F Kingsmore; Darrell Dinwiddie; Emily G Farrow; Neil A Miller; Francesca Favaretto; Pietro Maffei; Hélène Dollfus; Roberto Vettor; Jürgen K Naggert Journal: Hum Mutat Date: 2015-05-18 Impact factor: 4.878
Authors: Hans-Erik Frölander; Claes Möller; Mary Rudner; Sushmit Mishra; Jan D Marshall; Heather Piacentini; Björn Lyxell Journal: Front Psychol Date: 2015-09-23
Authors: Natascia Tahani; Pietro Maffei; Hélène Dollfus; Richard Paisey; Diana Valverde; Gabriella Milan; Joan C Han; Francesca Favaretto; Shyam C Madathil; Charlotte Dawson; Matthew J Armstrong; Adrian T Warfield; Selma Düzenli; Clair A Francomano; Meral Gunay-Aygun; Francesca Dassie; Vincent Marion; Marina Valenti; Kerry Leeson-Beevers; Ann Chivers; Richard Steeds; Timothy Barrett; Tarekegn Geberhiwot Journal: Orphanet J Rare Dis Date: 2020-09-21 Impact factor: 4.123