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

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.

Drug use in adolescents with mild intellectual disability in different living arrangements

2013 ◽  
Vol 20 (5) ◽  
pp. 399-407 ◽  
Author(s):  
Vesna Žunić-Pavlović ◽  
Miroslav Pavlović ◽  
Nenad Glumbić
Keyword(s):  
Intellectual Disability ◽  
Drug Use ◽  
Living Arrangements ◽  
Mild Intellectual Disability

WED 202 Lamb-shaffer syndrome: importance of snp array in diagnosing neurodevelopmental syndromes

2018 ◽  
Vol 89 (10) ◽  
pp. A29.4-A30 ◽  
Author(s):  
Ela M Akay ◽  
Ian S Schofield ◽  
Ming H Lai ◽  
Rhys H Thomas
Keyword(s):  
Intellectual Disability ◽  
Language Impairment ◽  
Cervical Vertebrae ◽  
Snp Array ◽  
Global Developmental Delay ◽  
Prior History ◽  
Loss Of Function ◽  
Mild Intellectual Disability ◽  
Gene Encoding ◽  
Original Cohort

We describe the seizure phenotype of a 26 year old lady who presented with a probable photic-induced convulsion on a background of mild intellectual disability, facial dysmorphia, fused cervical vertebrae and ventricular septal defect. There was no prior history of seizures.Routine EEG was polyrhythmic with a prominent photoparoxysmal response at 14 Hz and 40 Hz. CT head was normal. A SNP array demonstrated a rare 51 kb deletion at 12 p12.1 which disrupts the SOX5 gene.SOX5 is a developmentally important gene encoding a transcription factor that plays a role in multiple developmental pathways including of the nervous system. Loss of function of this gene is associated with Lamb-Shaffer syndrome, first characterised in 2012 with global developmental delay, intellectual disability, mild dysmorphic facies, language impairment and variable skeletal abnormalities.3 of the original cohort of 16 patients described experienced seizures and the nature of their epilepsy was not further defined. Only a further 7 cases have been reported to date, none of whom experienced seizures. Our case helps to broaden the phenotype of Lamb-Shaffer syndrome, highlights the importance of looking for copy number variation and poses questions regarding the neurobiology of photo-sensitivity.

scholarly journals Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

2020 ◽  
Vol 8 ◽  
Author(s):  
Raffaele Falsaperla ◽  
Xena Giada Pappalardo ◽  
Catia Romano ◽  
Simona Domenica Marino ◽  
Giovanni Corsello ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Conduct Disorder ◽  
Facial Features ◽  
Mild Intellectual Disability

scholarly journals Evaluating the effectiveness of psychological assistance to primary schoolchildren with cognitive health disorders aimed at developing their self-regulation skills

2021 ◽  
Vol 11 (4) ◽  
pp. 91-111
Author(s):  
Elena Aleksandrovna Chereneva ◽  
◽  
Estate (Tato) M. Sokhadze ◽  
Irina Yakovlevna Stoyanova ◽  
◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Extracurricular Activities ◽  
Intellectual Development ◽  
Self Regulation ◽  
Statistical Processing ◽  
Psychological Support ◽  
Mild Intellectual Disability ◽  
Cognitive Health ◽  
Primary Schoolchildren ◽  
Psychological Assistance

Introduction. The authors investigate the problem of developing self-regulation skills in primary schoolchildren with cognitive impairments within the education system. The purpose of the article is to evaluate the effectiveness of implementing the program of psychological support aimed at developing self-regulation as a way of enhancing adaptive strategies of behavior and components of self-regulation. Materials and Methods. The study employs a formative psychological and educational experiment (the action research). The collected empirical data were analyzed and summarized. The sample consisted of 456 students, aged between 8 to 11 years, who were divided into three groups: NID (normal intellectual development), ID (intellectual disability), and MID (mild intellectual disability). The data obtained were interpreted and subjected to statistical analysis using various methods of mathematical and statistical processing: the reliability of differences according to statistical criteria, the F * angular transformation, the criterion for comparing the distribution of Pearson χ2 levels, correlation analysis, the method of correlation pleiades. Results. The research findings have shown that program of psychological support aimed at formation of self-regulation developed and implemented by the authors has proven to be effective. It contributes to successful formation of self-regulation in children with cognitive impairment. The program is a socio-psychological resource for improving cognitive health in primary schoolchildren. Conclusions. The article concludes that the implementation of the program of psychological support has led to a significant increase in the indicators of self-regulation components in the subjects. The obtained data can be used by educational settings teaching children with cognitive disabilities to increase the effectiveness of classroom and extracurricular activities and their successful integration into society.

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