واقع استخدام التعليم الإلكتروني في تدريس ذوات الإعاقة الفكرية البسيطة في مدارس مدينة الرياض من وجهة نظر المعلمات = The Fact of Using Electronic Education in Teaching for Who Have Mild Intellectual Disability in Schools of Riyadh from Female Teachers' Perspective

2017 ◽  
Vol 5 (18 Part 2) ◽  
pp. 95-130
Author(s):  
ناصر بن سعد العجمي ◽  
مشيرة بنت عبد الله الحارثي
Keyword(s):  
Intellectual Disability ◽  
Mild Intellectual Disability ◽  
Female Teachers ◽  
Electronic Education

scholarly journals Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

2021 ◽  
Author(s):  
Meena Balasubramanian ◽  
Alexander J. M. Dingemans ◽  
Shadi Albaba ◽  
Ruth Richardson ◽  
Thabo M. Yates ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Protein Function ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Mild Intellectual Disability ◽  
Related Disorder ◽  
Feeding Difficulties ◽  
Facial Phenotype ◽  
Novel Variants ◽  
Common Behaviour

AbstractWitteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10–12.

scholarly journals 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability

2015 ◽  
Vol 60 (12) ◽  
pp. 777-780 ◽  
Author(s):  
Veronica Bertini ◽  
Francesca Cambi ◽  
Rossella Bruno ◽  
Benedetta Toschi ◽  
Francesca Forli ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Mild Intellectual Disability
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