ArticleJournal of inherited metabolic disease2010
Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Neuropsychiatric Symptoms and Their Association With Sex, Age, and Enzyme Replacement Therapy in Fabry Disease: A Systematic Review.Frontiers in psychiatry · 2022Pooled it
- Cognitive dysfunction and depression in Fabry disease: a systematic review.Journal of inherited metabolic disease · 2014Pooled it
- Article
- Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse.International journal of molecular sciences · 2023Review
- Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study.Frontiers in medicine · 2023Article
- Attention Deficits and ADHD Symptoms in Adults with Fabry Disease-A Pilot Investigation.Journal of clinical medicine · 2021Article
- Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations.Metabolic brain disease · 2021Article
- Cognitive Impairments and Subjective Cognitive Complaints in Fabry Disease: A Nationwide Study and Review of the Literature.JIMD reports · 2018Article
- The Psychosocial Impact of Fabry Disease on Pediatric Patients.Journal of pediatric genetics · 2016Article
- Cognitive function in adults aging with fabry disease: a case-control feasibility study using telephone-based assessments.JIMD reports · 2015Article
- Cognitive and psychological functioning in Fabry disease.Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists · 2014Article
- The neuropsychiatry of inborn errors of metabolism.Journal of inherited metabolic disease · 2013Review
- Fabry disease.Orphanet journal of rare diseases · 2010Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal storage disorder disease caused by a deficiency in the activity of the alpha-galactosidase enzyme. We investigated neuropsychological and psychiatric function in AFD patients. We studied 16 AFD patients, aged 7 to 61 years. Intelligence, language, vision-spatial abilities, memory, sensorimotor abilities, and attention and executive functions were tested with a computerized test battery as well as standard paper and pencil tests. The results were compared to known age-based norms. In addition, all patients were screened for lifelong DSM-IV Axis-I and Axis-II psychiatric diagnoses, and 4 were interviewed by a psychiatrist. Performance on most cognitive measures was within average range. All measures of information processing speed were significantly reduced, as were some measures of executive functions. Ten out of 16 patients met DSM-IV criteria for Axis I or Axis II diagnoses at some point in their lives. This preliminary study delineates a psychiatric and cognitive phenotype in AFD patients and contributes to the growing field of characterizing behavioral phenotypes of patients with genetic diseases. We suggest that psychiatric and neuro-psychological evaluation be included in the patient's evaluation.
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Registered trials
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