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A Machine Learning Approach to Design an Efficient Selective Screening of Mild Cognitive Impairment
Published on: January 11, 2020
A population-based study on the causes of mild and severe mental retardation
R Matilainen1, E Airaksinen, T Mononen
1Department of Pediatrics, Kuopio University Hospital, Finland.
Abstract:
The causes of mental retardation (MR) were studied as part of a multidisciplinary epidemiological case-control study in 151 mentally retarded patients identified by screening four age cohorts (12,882 children) at 8-9 years of age in the province of Kuopio, Finland. The causes of MR in 77 severely retarded (SD < or = -3 SD) and 74 mildly retarded (-2 > SD > -3) children were divided into pre-, peri-, postnatal and unknown groups according to the probable time of onset. The causes were pre-, peri-, postnatal and unknown in 60%, 9%, 8% and 23%, and 22%, 1%, 3% and 74%, in the two populations, respectively. Genetic causes were found in 28% of all 151 cases; the three most common subgroups were trisomy 21, fragile X syndrome and aspartylglycosaminuria (13%, 4% and 2% respectively). The study design used provided reliable information on the causes of MR and also demonstrated those forms of genetic metabolic diseases typical of Finnish inheritance.
Insights
This study investigated the causes of mental retardation (MR) in Finnish children. Genetic factors, including trisomy 21 and fragile X syndrome, were significant contributors, highlighting unique Finnish inheritance patterns.
Area of Science:
- Epidemiology
- Genetics
- Pediatrics
Background:
- Mental retardation (MR) etiology is complex and multifactorial.
- Understanding the causes of MR is crucial for early intervention and prevention strategies.
- Finnish populations may exhibit unique genetic predispositions to certain conditions.
Purpose of the Study:
- To identify and categorize the causes of mental retardation in a defined Finnish cohort.
- To determine the prevalence of pre-, peri-, and postnatal factors contributing to MR.
- To investigate the role of genetic causes, including specific inherited metabolic diseases.
Main Methods:
- A multidisciplinary, population-based epidemiological case-control study.
- Screening of 12,882 children aged 8-9 years in Kuopio, Finland.
- Classification of MR causes into pre-, peri-, postnatal, and unknown groups based on probable onset time.
Main Results:
- Genetic causes accounted for 28% of all 151 MR cases.
- The most frequent genetic causes were trisomy 21 (13%), fragile X syndrome (4%), and aspartylglycosaminuria (2%).
- Pre-, peri-, and postnatal causes were identified in 60%, 9%, and 8% of severely retarded children, respectively, with unknown causes in 23%.
Conclusions:
- The study provides reliable etiological information on mental retardation in the studied population.
- Genetic factors, particularly specific inherited metabolic diseases, play a significant role in Finnish MR cases.
- The findings underscore the importance of genetic counseling and screening for conditions with typical Finnish inheritance patterns.
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