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  1. Stein Z, Durkin M, Belmont L
    Ann N Y Acad Sci, 1986;477:8-21.
    PMID: 3468840
    In this paper we first present methods and preliminary results of pilot surveys of "serious" mental retardation (IQ less than or equal to 55); the surveys included screening and diagnostic components and were carried out in the less-developed world. Next we discuss two problems raised by these surveys: one is the diagnosis of a case and its clinical dimensions, and the other is the interpretation of prevalence. In the next section we illustrate epidemiological approaches to the analysis of such data, in particular their relevance to prevention. Lastly, we propose that the two-stage survey approach developed in the course of the pilot work can provide a valuable basis for planning and prevention, if certain key conditions can be met.
    Matched MeSH terms: Intellectual Disability/epidemiology*
  2. Meon R, Majid ZA, Salcedo AH
    Singapore Dent J, 1987 Dec;12(1):75-8.
    PMID: 3509314
    Matched MeSH terms: Intellectual Disability/epidemiology*
  3. George R, Hoi Sen Y, Lim G, Boo LJ
    Med J Malaysia, 1975 Dec;30(2):83-7.
    PMID: 1228386
    Matched MeSH terms: Intellectual Disability/epidemiology
  4. Olusanya BO, Wright SM, Nair MKC, Boo NY, Halpern R, Kuper H, et al.
    Pediatrics, 2020 07;146(1).
    PMID: 32554521 DOI: 10.1542/peds.2019-2623
    BACKGROUND: Estimates of children and adolescents with disabilities worldwide are needed to inform global intervention under the disability-inclusive provisions of the Sustainable Development Goals. We sought to update the most widely reported estimate of 93 million children <15 years with disabilities from the Global Burden of Disease Study 2004.

    METHODS: We analyzed Global Burden of Disease Study 2017 data on the prevalence of childhood epilepsy, intellectual disability, and vision or hearing loss and on years lived with disability (YLD) derived from systematic reviews, health surveys, hospital and claims databases, cohort studies, and disease-specific registries. Point estimates of the prevalence and YLD and the 95% uncertainty intervals (UIs) around the estimates were assessed.

    RESULTS: Globally, 291.2 million (11.2%) of the 2.6 billion children and adolescents (95% UI: 249.9-335.4 million) were estimated to have 1 of the 4 specified disabilities in 2017. The prevalence of these disabilities increased with age from 6.1% among children aged <1 year to 13.9% among adolescents aged 15 to 19 years. A total of 275.2 million (94.5%) lived in low- and middle-income countries, predominantly in South Asia and sub-Saharan Africa. The top 10 countries accounted for 62.3% of all children and adolescents with disabilities. These disabilities accounted for 28.9 million YLD or 19.9% of the overall 145.3 million (95% UI: 106.9-189.7) YLD from all causes among children and adolescents.

    CONCLUSIONS: The number of children and adolescents with these 4 disabilities is far higher than the 2004 estimate, increases from infancy to adolescence, and accounts for a substantial proportion of all-cause YLD.

    Matched MeSH terms: Intellectual Disability/epidemiology*
  5. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, et al.
    Am J Med Genet A, 2019 02;179(2):150-158.
    PMID: 30614194 DOI: 10.1002/ajmg.a.61033
    Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
    Matched MeSH terms: Intellectual Disability/epidemiology
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