Ring 17 syndrome: first clinical report without intellectual disability

2015 ◽  
Vol 17 (1) ◽  
pp. 84-88
Author(s):  
Luca de Palma ◽  
Debora De Carlo ◽  
Elisabetta Lenzini ◽  
Clementina Boniver ◽  
Vincenza Tarantino ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Report

scholarly journals Duplication of 19p13.3 in 11-Year-Old Male Patient with Dysmorphic Features and Intellectual Disability: A Review

2017 ◽  
Vol 06 (04) ◽  
pp. 227-233 ◽  
Author(s):  
Irina Novikova ◽  
Paushpala Sen ◽  
Ann Manzardo ◽  
Merlin Butler
Keyword(s):  
Intellectual Disability ◽  
Male Patient ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Clinical Report ◽  
Intrauterine Growth ◽  
Interstitial Duplication ◽  
Craniofacial Features ◽  
Sparse Hair ◽  
Small Mouth

AbstractWe present a clinical report of an 11-year-old male patient with an interstitial duplication of 19p13.3 (829 kb in size) at genomic coordinates 3,804,495–4,033,722 bp (hg19) identified by chromosomal microarray analysis and review the literature from nine published reports adding knowledge regarding this chromosomal anomaly and clinical outcomes. The size of the duplication ranged from 0.83 to 8.9 Mb in the nine individuals. The young boy in our report was dysmorphic with microcephaly, abnormal craniofacial features, intellectual disability, aggression, and a heart murmur. All patients were found to have a psychomotor developmental delay and/or intellectual disability with the majority having microcephaly, intrauterine growth retardation, and hypotonia. Common craniofacial findings included a tall, prominent forehead, an elongated face, epicanthal folds, hypertelorism, prominent low-set ears, philtrum anomaly, and a small mouth. Other less common features included abnormal digits, sparse hair, and cardiac defects. Clinical features, chromosome duplication sizes, locations, and the number of genes will be summarized in a tabular form.

Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature

2011 ◽  
Vol 155 (4) ◽  
pp. 911-914 ◽  
Author(s):  
Nicola Specchio ◽  
Antonio Carotenuto ◽  
Marina Trivisano ◽  
Simona Cappelletti ◽  
Cristina Digilio ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Report ◽  
Review Of The Literature

Normocentric biases taint cognitive neuroscience and intervention of autism

2019 ◽  
Vol 42 ◽  
Author(s):  
Laurent Mottron
Keyword(s):  
Intellectual Disability ◽  
Cognitive Neuroscience ◽  
Social Motivation ◽  
Repetitive Behaviors ◽  
Restricted Interests ◽  
Autistic People

Abstract Stepping away from a normocentric understanding of autism goes beyond questioning the supposed lack of social motivation of autistic people. It evokes subversion of the prevalence of intellectual disability even in non-verbal autism. It also challenges the perceived purposelessness of some restricted interests and repetitive behaviors, and instead interprets them as legitimate exploratory and learning-associated manifestations.

Receipt of psychotropic medication by people with intellectual disability in residential settings

2000 ◽  
Vol 44 (6) ◽  
pp. 666-676 ◽  
Author(s):  
J. Robertson ◽  
E. Emerson ◽  
N. Gregory ◽  
C. Hatton ◽  
S. Kessissoglou ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Psychotropic Medication ◽  
Residential Settings

Abstract # OR-20: External Validation of the Leicester Self-Assessment Diabetes Risk Score in a Population with Intellectual Disability

2016 ◽  
Vol 22 ◽  
pp. 12
Author(s):  
Laura Gray ◽  
Yogini Chudasama ◽  
Alison Dunkley ◽  
Freya Tyrer ◽  
Rebecca Spong ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Risk Score ◽  
External Validation ◽  
Diabetes Risk ◽  
Self Assessment ◽  
Diabetes Risk Score
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