The prevalence of autism among children with albinism

被引：1
作者：
Gunz, Stav [1 ]
Rozen-Knisbacher, Irit [2 ]
Blumenfeld, Anat [2 ]
Hendler, Karen [2 ]
Yahalom, Claudia [1 ,2 ,3 ]
机构：
[1] Hebrew Univ Jerusalem, Fac Med, Jerusalem, Israel
[2] Hadassah Med Ctr, Dept Ophthalmol, Jerusalem, Israel
[3] Hadassah Med Ctr, Dept Ophthalmol, Kiryat Hadassah POB 91120, IL-12000 Jerusalem, Israel
来源：
EUROPEAN JOURNAL OF OPHTHALMOLOGY | 2024年 / 34卷 / 03期
关键词：
genetic disease / congenital abnormalities < PEDIATRIC OPHTHALMOLOGY; genetics < GENETICS; practice management < SOCIOECONOMICS AND EDUCATION IN MEDICINE/OPHTHALMOLOGY; molecular < GENETICS; congenital and stationary retinal disease < RETINA; OCULOCUTANEOUS ALBINISM; DISORDER; ASSOCIATION; TYROSINASE; SUBUNIT;
D O I：
10.1177/11206721231206091
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
Background: The association between Autism spectrum disorders (ASD) and visual impairment has been mentioned in the literature. The aim of our study was to investigate the prevalence of autism among children with albinism compared to the prevalence of ASD in children with visual impairment secondary to other causes.Methods: Retrospective study of children with albinism from January 2015 to December 2020. A control group was created with children with early onset visual impairment of similar visual range and age, secondary to diagnosis other than albinism. Patients with associated Autism were identified in both groups.Results: Seven hundred and eight children aged 1-18 years with visual impairment were included in the study. 401 children had a diagnosis of albinism, of whom 14 were also diagnosed with ASD. In the control group, composed of 307 patients, only 3 had ASD (p: 0 center dot 03).Conclusions: The prevalence of ASD in patients with albinism was 1 in 28, while in children with visual impairment from other causes was 1 in 102. We aim to raise awareness of the higher prevalence of autism in children diagnosed with albinism in order to reach earlier diagnosis and support.
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收藏
页码：666 / 671
页数：6
相关论文
共 25 条
[11]   The relationship between symptoms of autism spectrum disorder and visual impairment among adults with intellectual disability [J].
Kiani, Reza ;
Bhaumik, Sabyasachy ;
Tyrer, Freya ;
Bankart, John ;
Miller, Helen ;
Cooper, Sally Ann ;
Brugha, Traolach Sean .
AUTISM RESEARCH, 2019, 12 (09) :1411-1422
[12]   A linkage disequilibrium map of the 1-Mb 15q12 GABAA receptor subunit cluster and association to autism [J].
McCauley, JL ;
Olson, LM ;
Delahanty, R ;
Amin, T ;
Nurmi, EL ;
Organ, EL ;
Jacobs, MM ;
Folstein, SE ;
Haines, JL ;
Sutcliffe, JS .
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2004, 131B (01) :51-59
[13]   Toward a Better Understanding of Neuronal Migration Deficits in Autism Spectrum Disorders [J].
Pan, Yi-Hsuan ;
Wu, Nan ;
Yuan, Xiao-Bing .
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2019, 7
[14]   Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male [J].
Papoulidis, Ioannis ;
Paspaliaris, Vassilis ;
Siomou, Elisavet ;
Orru, Sandro ;
Murru, Roberta ;
Sifakis, Stavros ;
Nikolaidis, Petros ;
Garas, Antonios ;
Sotiriou, Sotirios ;
Thomaidis, Loretta ;
Manolakos, Emmanouil .
MOLECULAR CYTOGENETICS, 2015, 8
[15]   Tyrosinase and ocular diseases: Some novel thoughts on the molecular basis of oculocutaneous albinism type 1 [J].
Ray, Kunal ;
Chaki, Moumita ;
Sengupta, Mainak .
PROGRESS IN RETINAL AND EYE RESEARCH, 2007, 26 (04) :323-358
[16]   OCULOCUTANEOUS ALBINISM AND MENTAL DISORDER - REPORT OF 2 AUTISTIC BOYS [J].
ROGAWSKI, MA ;
FUNDERBURK, SJ ;
CEDERBAUM, SD .
HUMAN HEREDITY, 1978, 28 (02) :81-85
[17]   Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families [J].
Rosenmann, Ada ;
Bejarano-Achache, Idit ;
Eli, Dalia ;
Maftsir, Genia ;
Mizrahi-Meissonnier, Liliana ;
Blumenfeld, Anat .
PRENATAL DIAGNOSIS, 2009, 29 (10) :939-946
[18]   Genetic Causes and Modifiers of Autism Spectrum Disorder [J].
Rylaarsdam, Lauren ;
Guemez-Gamboa, Alicia .
FRONTIERS IN CELLULAR NEUROSCIENCE, 2019, 13
[19]   DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics [J].
Simeonov, Dimitre R. ;
Wang, Xinjing ;
Wang, Chen ;
Sergeev, Yuri ;
Dolinska, Monika ;
Bower, Matthew ;
Fischer, Roxanne ;
Winer, David ;
Dubrovsky, Genia ;
Balog, Joan Z. ;
Huizing, Marjan ;
Hart, Rachel ;
Zein, Wadih M. ;
Gahl, William A. ;
Brooks, Brian P. ;
Adams, David R. .
HUMAN MUTATION, 2013, 34 (06) :827-835
[20]  
Tief K, 1996, DEV DYNAM, V205, P445, DOI 10.1002/(SICI)1097-0177(199604)205:4<445::AID-AJA8>3.0.CO
123