scholarly journals Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

2018 ◽  
Vol 212 (5) ◽  
pp. 287-294 ◽  
Author(s):  
Johan H. Thygesen ◽  
Kate Wolfe ◽  
Andrew McQuillin ◽  
Marina Viñas-Jornet ◽  
Neus Baena ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Intellectual Disabilities ◽  
Psychiatric Disorders ◽  
Copy Number ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Comorbid Psychiatric Disorders ◽  
Pathogenic Cnvs ◽  
Adults With Intellectual Disabilities ◽  
Individuals With Intellectual Disabilities

BackgroundCopy number variants (CNVs) are established risk factors for neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused on single disorder populations. The role of CNVs in individuals with intellectual disabilities and psychiatric comorbidities are less well characterised.AimsTo determine the type and frequency of CNVs in adults with intellectual disabilities and comorbid psychiatric disorders.MethodA chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites.ResultsThe yield of pathogenic CNVs was high – 13%. Focusing on established neurodevelopmental disorder risk loci we find a significantly higher frequency in individuals with intellectual disabilities and comorbid psychiatric disorder (10%) compared with healthy controls (1.2%, P<0.0001), schizophrenia (3.1%, P<0.0001) and intellectual disability/autism spectrum disorder (6.5%, P < 0.00084) populations.ConclusionsIn the largest sample of adults with intellectual disabilities and comorbid psychiatric disorders to date, we find a high rate of pathogenic CNVs. This has clinical implications for the use of genetic investigations in intellectual disability psychiatry.Declaration of interestNone.

Physical Activity Benefits and Needs in Adults With Intellectual Disabilities: Systematic Review of the Literature

2011 ◽  
Vol 116 (3) ◽  
pp. 220-232 ◽  
Author(s):  
Pamela Bartlo ◽  
Penelope J. Klein
Keyword(s):  
Physical Activity ◽  
Intellectual Disability ◽  
Intellectual Disabilities ◽  
Inclusion Criteria ◽  
Physical Activity Interventions ◽  
Methodological Rigor ◽  
Electronic Database Search ◽  
Adults With Intellectual Disabilities ◽  
Individuals With Intellectual Disabilities

Abstract Regular physical activity is vital for adult individuals with intellectual disabilities. The purpose of this review was to assess critically the evidence on effectiveness of physical activity interventions for adults with intellectual disability. An electronic database search was conducted. Research was then assessed for methodological rigor, and strength of the evidence was determined. Eleven clinical studies met inclusion criteria. Interventions studied included a variety of physical activity modes. Critical review revealed moderate to strong evidence that physical activity positively affected balance, muscle strength, and quality of life in individuals with intellectual disability. The authors also found that the research in this area needs to be translated into practice, specifically the development of physical activity programs that are adaptable to the needs of individuals with intellectual disability.

Genomic Syndromes in Schizophrenia

2013 ◽  
pp. 247-255
Author(s):  
George Kirov ◽  
Michael C. O’Donovan ◽  
Michael J. Owen
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Individual Risk ◽  
Genomic Deletions ◽  
Pathogenic Cnvs ◽  
Cognition And Learning

Several submicroscopic genomic deletions and duplications known as copy number variants (CNVs) have been reported to increase susceptibility to schizophrenia. Those for which the evidence is particularly strong include deletions at chromosomal segments 1q21.1, 3q29, 15q11.2, 15q13.3, 17q12 and 22q11.2, duplications at 15q11.2-q13.1, 16p13.1, and 16p11.2, and deletions atthe gene NRXN1. The effect of each on individual risk is relatively large, but it does not appear that any of them is alone sufficient to cause disorder in carriers. These CNVs often arise as new mutations(de novo). Analyses of genes enriched among schizophrenia implicated CNVs highlight the involvement in the disorder of post-synaptic processes relevant to glutamatergicsignalling, cognition and learning. CNVs that contribute to schizophrenia risk also contribute to other neurodevelopmental disorders, including intellectual disability, developmental delay and autism. As a result of selection, all known pathogenic CNVs are rare, and none makes a sizeable contribution to overall population risk of schizophrenia, although the study of these mutations is nevertheless providing important insights into the origins of the disorder.

A Tool for Supporting Communication in the Workplace for Individuals With Intellectual Disabilities and/or Autism

2016 ◽  
Vol 40 (4) ◽  
pp. 244-249 ◽  
Author(s):  
Danielle M. Pouliot ◽  
Eve Müller ◽  
Nancy F. Frasché ◽  
Ann S. Kern ◽  
Israelle H. Resti
Keyword(s):  
Young Adults ◽  
Intellectual Disabilities ◽  
Electronic Communication ◽  
Autism Spectrum ◽  
Language Impairments ◽  
Support Staff ◽  
Pragmatic Communication ◽  
Spectrum Disorders ◽  
Adults With Intellectual Disabilities ◽  
Individuals With Intellectual Disabilities

Speech and language impairments can pose significant challenges to the successful workplace inclusion of young adults with intellectual disabilities (IDs) and/or autism spectrum disorders (ASD). Breakdowns are most likely to occur when support staff, workplace supervisors, or co-workers are unsure how to support effective communication. “Communication Stories” offer an innovative means of helping young adults with ID/ASD advocate for themselves by teaching others about the expressive, receptive, and social/pragmatic communication strategies they use. This article provides guidelines for how to develop customized, electronic “Communication Stories” for young adults with ID/ASD to use in the workplace. Suggestions are also given for use in other contexts, and for low-tech options.

Relationship between psychiatric disorders and adaptive functioning in adults with intellectual disabilities

2016 ◽  
Vol 10 (1) ◽  
pp. 92-101
Author(s):  
Marco O. Bertelli ◽  
Michele Rossi ◽  
Niccolò Varrucciu ◽  
Annamaria Bianco ◽  
Daniela Scuticchio ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Psychiatric Disorders ◽  
Adaptive Functioning ◽  
Negative Impact ◽  
Interpersonal Relationship ◽  
Autism Spectrum ◽  
Vineland Adaptive Behavior Scales ◽  
Content Type ◽  
Adults With Intellectual Disabilities ◽  
The Impact

Purpose – Though the very high prevalence of psychiatric disorders (PD) in people with intellectual disability (PwID), the impact of these disorders on adaptive functioning has been minimally investigated. The few contributions present in the literature focussed on children, adolescents, and individual with autism spectrum disorders (ASD). There are no studies concerning the evaluation of any kind of impact on individual skills. Comparison studies between PD and organic disorders, including neurological disorders (ND), was also underexplored. The purpose of this paper is to assess the impact of the presence of a PD on the adaptive functioning of adults with intellectual disability (ID). Design/methodology/approach – In total, 107 adults with ID living in residential facilities or attending day care centers in Tuscany were consecutively assessed with the Psychiatric Instrument for the Intellectually Disabled Adult (SPAID-G), the Diagnostic Manual-Intellectual Disability (DM-ID) criteria, and the Vineland Adaptive Behavior Scales (VABS). The scores were statistically compared and results were controlled for level of ID and other background variables. Findings – The presence of a PD resulted to have a significant negative impact on individual adaptive skills. Participants with PD scored significantly lower than those without PD in communication and socialization areas of VABS. Participants with ND scored significantly lower than people without ND in daily living and motor skills. The average scores of participants with only PD and those of participants with PD and ND showed no significant differences. Significant differences were found between participants with only ND and participants with ND and PD in the interpersonal relationship subscale. Originality/value – As far as the best knowledge, this is the first study on the evaluation of the impact of any kind of PD on the abilities of PwID. This paper suggests that the presence of a PD seems to have a relevant negative impact on functioning of PwID higher than that of ND, particularly in communication and socialization skills.

scholarly journals Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability

2018 ◽  
Vol 08 (01) ◽  
pp. 001-009
Author(s):  
Pinar Arican ◽  
Berk Ozyilmaz ◽  
Dilek Cavusoglu ◽  
Pinar Gencpinar ◽  
Kadri Erdogan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
De Novo ◽  
Copy Number Variants ◽  
Autism Spectrum ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Genetic Syndromes ◽  
Pathogenic Cnvs ◽  
Spectrum Disorders

AbstractChromosomal microarray (CMA) analysis for discovery of copy number variants (CNVs) is now recommended as a first-line diagnostic tool in patients with unexplained developmental delay/intellectual disability (DD/ID) and autism spectrum disorders. In this study, we present the results of CMA analysis in patients with DD/ID. Of 210 patients, pathogenic CNVs were detected in 26 (12%) and variants of uncertain clinical significance in 36 (17%) children. The diagnosis of well-recognized genetic syndromes was achieved in 12 patients. CMA analysis revealed pathogenic de novo CNVs, such as 11p13 duplication with new clinical features. Our results support the utility of CMA as a routine diagnostic test for unexplained DD/ID.

scholarly journals High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

2018 ◽  
Vol 48 (4) ◽  
pp. 323-336 ◽  
Author(s):  
Marina Viñas-Jornet ◽  
Susanna Esteba-Castillo ◽  
Neus Baena ◽  
Núria Ribas-Vidal ◽  
Anna Ruiz ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Psychiatric Disorders ◽  
Copy Number ◽  
Copy Number Variants ◽  
High Incidence

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

2016 ◽  
Vol 170 (4) ◽  
pp. 986-991 ◽  
Author(s):  
Karen G. Scheps ◽  
Liliana Francipane ◽  
Julián Nevado ◽  
Nora Basack ◽  
Myriam Attie ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Pediatric Patient ◽  
Copy Number ◽  
Copy Number Variants ◽  
Multiple Copy ◽  
Hb H Disease

scholarly journals Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Ying Qiao ◽  
Eloi Mercier ◽  
Jila Dastan ◽  
Jane Hurlburt ◽  
Barbara McGillivray ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Copy Number Variants
Sign in / Sign up

Export Citation Format

Share Document