scholarly journals eHealth in the support of people with mild intellectual disability in daily life: A systematic review

2020 ◽  
Vol 33 (6) ◽  
pp. 1166-1187
Author(s):  
Cathelijn E. M. Oudshoorn ◽  
Noud Frielink ◽  
Sara L. P. Nijs ◽  
Petri J. C. M. Embregts
Keyword(s):  
Systematic Review ◽  
Intellectual Disability ◽  
Daily Life ◽  
Mild Intellectual Disability

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 The effect of exercise on quality of life and activities of daily life in frail older adults: A systematic review of randomised control trials

2021 ◽  
Vol 147 ◽  
pp. 111287
Author(s):  
Evan Campbell ◽  
Fanny Petermann-Rocha ◽  
Paul Welsh ◽  
Carlos Celis-Morales ◽  
Jill P. Pell ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Systematic Review ◽  
Older Adults ◽  
Daily Life ◽  
Frail Older Adults ◽  
Activities Of Daily Life ◽  
Randomised Control Trials
Sign in / Sign up

Export Citation Format

Share Document