Open AccessIntellectual functioning in alpha‐mannosidosis
Author(s) -
Cathey Sara S.,
Sarasua Sara M.,
Simensen Richard,
Pietris Katie,
Kimbrell Gordon,
Sillence David,
Wilson Callum,
Horowitz Lucia
Publication year - 2019
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12073
Subject(s) - intellectual disability , borderline intellectual functioning , alpha (finance) , cognition , intelligence quotient , cognitive skill , intellectual development , disease , medicine , psychology , gerontology , pediatrics , clinical psychology , developmental psychology , psychiatry , psychometrics , construct validity
Alpha‐mannosidosis is a rare inherited metabolic disorder (OMIM #248500) caused by mutations in the enzyme α‐mannosidase encoded by the gene MAN2B1 . Patients have distinct physical and developmental features, but only limited information regarding standardized cognitive functioning of patients has been published. Here we contribute intellectual ability scores (IQ) on 12 patients with alpha‐mannosidosis (ages 8‐59 years, 10 males, 2 females). In addition, a pooled analysis was performed with data collected from this investigation and 31 cases obtained from the literature, allowing a comprehensive analysis of intellectual functioning in this rare disease. The initial and pooled analyses show that patients with alpha‐mannosidosis have variable degrees of intellectual disability but show decline in IQ with age, particularly during the first decade of life. Patients treated with hematopoietic stem cell transplantation tend to show stabilized cognitive abilities.