نتایج جستجو برای: developmental disability

تعداد نتایج: 186117  

Journal: :Canadian journal of health technologies 2023


 No evidence was identified regarding the diagnostic test accuracy or clinical utility of copper and ceruloplasmin tests compared to other criteria detect Wilson disease Menkes in children with global development delay intellectual disability that met for this review.
 evidence-based guidelines were found on use developmental

2016
Emily Webster Megan T. Cho Nora Alexander Sonal Desai Sakkubai Naidu Mir Reza Bekheirnia Andrea Lewis Kyle Retterer Jane Juusola Wendy K. Chung

Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mut...

Journal: :Intellectual and developmental disabilities 2007
Robert L Schalock Ruth A Luckasson Karrie A Shogren Sharon Borthwick-Duffy Val Bradley Wil H E Buntinx David L Coulter Ellis M Craig Sharon C Gomez Yves Lachapelle Alya Reeve Martha E Snell Scott Spreat Marc J Tassé James R Thompson Miguel A Verdugo Michael L Wehmeyer Mark H Yeager

There is considerable and intense discussion in the field of intellectual disability/mental retardation about the construct of disability, how intellectual disability fits within the general construct of disability, and the use of the term intellectual disability (Glidden, 2006; Greenspan, 2006; MacMillan, Siperstein, & Leffert, 2006; Schalock & Luckasson, 2004; Switzky & Greenspan, 2006b). Thi...

Journal: :American journal of medical genetics. Part A 2012
Anna Kostanecka Lindsey B Close Kosuke Izumi Ian D Krantz Mary Pipan

Pallister-Killian syndrome is a sporadic disorder caused by the presence of mosaic tetrasomy of the short arms of chromosome 12. Case reports of children with Pallister-Killian syndrome have described a range of developmental and behavioral outcomes, but no systematic studies of these outcomes exist. The objective of this study was to describe developmental and behavioral characteristics of ind...

2012
Maroufou Jules Alao Blaise Ayivi Didier Lacombe

Disability is an umbrella term, covering impairments, activity limitations, and participation restrictions. Impairment is a problem in body function or structure; an activity limitation is a difficulty encountered by an individual in executing a task or action; while a participation restriction is a problem experienced by an individual in involvement in life situations. Thus disability is a com...

2017
Martina Busè Helenia C Cuttaia Daniela Palazzo Marcella V Mazara Salvatrice A Lauricella Michela Malacarne Mauro Pierluigi Simona Cavani Maria Piccione

BACKGROUND Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism and congenital anomalies. The 1q21.1 reciprocal duplication has been associated with macrocephaly or relative macrocephaly, frontal bossing, hypertelorism, de...

Journal: :Indian pediatrics 2009
M K C Nair Babu George J Padmamohan R M Sunitha V R Resmi G L Prasanna M L Leena

We conducted this study to assess the prevalence of developmental delay, deformity and disability among 0-5 age group childrenn in Pattanakkad rural ICDS block, selected at random from among the ICDS blocks in Alappuzha District, Kerala, India. Of 12520 children upto 5 years in this block, there were a total of 311 children with developmental delay, deviation, deformity or disability giving a p...

Journal: :Research in developmental disabilities 2014
Brian Reichow Nicholas W Gelbar Keri Mouradjian Allison Shefcyk Isaac C Smith

The Internet often serves as a primary resource for individuals seeking health-related information, and a large and growing number of websites contain information related to developmental disabilities. This paper presents the results of an international evaluation of the characteristics and content of the top 10 ranked results (i.e., not including sponsored results - pay-per-click) returned whe...

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