scholarly journals Hypothalamic Hamartomas: Evolving Understanding and Management

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012773
Author(s):  
Nathan T. Cohen ◽  
J. Helen Cross ◽  
Alexis Arzimanoglou ◽  
Samuel F. Berkovic ◽  
John F. Kerrigan ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Refractory Epilepsy ◽  
Externalizing Disorders ◽  
Current Understanding ◽  
Future Research ◽  
Endocrine Disorders ◽  
Genetic Studies ◽  
Prenatal Detection ◽  
Hypothalamic Hamartomas ◽  
Behavioral Disruption

Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in GLI3 and other patterning genes are involved in HH pathogenesis. About 50-80% of children with HH suffer from severe rage and aggression and a majority of cases exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep and endocrine disorders are typical. The purpose of this paper is to provide a summary of the current understanding of HH, and to highlight opportunities for future research.

scholarly journals Endocrine Disrupting Chemicals: Current Understanding, New Testing Strategies and Future Research Needs

2021 ◽  
Vol 22 (2) ◽  
pp. 933
Author(s):  
Maria E. Street ◽  
Karine Audouze ◽  
Juliette Legler ◽  
Hideko Sone ◽  
Paola Palanza
Keyword(s):  
Endocrine Disrupting Chemicals ◽  
Endocrine System ◽  
Current Understanding ◽  
Future Research ◽  
Developmental Origins ◽  
Research Needs ◽  
Important Class ◽  
Testing Strategies ◽  
Endocrine Disrupting ◽  
Health And Disease

Endocrine disrupting chemicals (EDCs) are exogenous chemicals which can disrupt any action of the endocrine system, and are an important class of substances which play a role in the Developmental Origins of Health and Disease (DOHaD) [...]

scholarly journals Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yousra Benmakhlouf ◽  
Renaud Touraine ◽  
Ines Harzallah ◽  
Zeineb Zian ◽  
Kaoutar Ben Makhlouf ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Sample Size ◽  
Mutational Analysis ◽  
Homeobox Gene ◽  
Recurrent Mutation ◽  
Neuropsychiatric Disorder ◽  
Good Tool ◽  
Genetic Studies ◽  
Exon 2 ◽  
Moroccan Patients

Abstract Objective Intellectual Disability (ID) represents a neuropsychiatric disorder, which its etiopathogenesis remains insufficiently understood. Mutations in the Aristaless Related Homeobox gene (ARX) have been identified to cause syndromic and nonsyndromic (NS-ID). The most recurrent mutation of this gene is a duplication of 24pb, c.428-451dup. Epidemiological and genetic studies about ID in the Moroccan population remain very scarce, and none study is carried out on the ARX gene. This work aimed to study c.428–451dup (24 bp) mutation in the exon 2 of the ARX gene in 118 males’ Moroccan patients with milder NS-ID to evaluate if the gene screening is a good tool for identifying NS-ID. Results Our mutational analysis did not show any dup(24pb) in our patients. This is because based on findings from previous studies that found ARX mutations in 70% of families with NS-ID, and in most cases, 1.5–6.1% of individuals with NS-ID have this duplication. Since 1/118 = 0.0084 (0.84%) is not much different from 1.5%, then it is reasonable that this could a sample size artifact. A complete screening of the entire ARX gene, including the five exons, should be fulfilled. Further investigations are required to confirm these results.

Children With Intellectual Disability and Victimization: A Logistic Regression Analysis

2021 ◽  
pp. 107755952199417
Author(s):  
Katherine R. Brendli ◽  
Michael D. Broda ◽  
Ruth Brown
Keyword(s):  
Logistic Regression ◽  
Regression Analysis ◽  
Intellectual Disability ◽  
Logistic Regression Analysis ◽  
District Of Columbia ◽  
The Other ◽  
Future Research ◽  
Common Assumption ◽  
Research And Practice ◽  
Demographic Correlates

It is a common assumption that children with disabilities are more likely to experience victimization than their peers without disabilities. However, there is a paucity of robust research supporting this assumption in the current literature. In response to this need, we conducted a logistic regression analysis using a national dataset of responses from 26,572 parents/caregivers to children with and without disabilities across all 50 states, plus the District of Columbia. The purpose of our study was to acquire a greater understanding of the odds of victimization among children with and without intellectual disability (ID), while controlling for several child and parent/adult demographic correlates. Most notably, our study revealed that children with ID have 2.84 times greater odds of experiencing victimization than children without disabilities, after adjusting for the other predictors in the model. Implications for future research and practice are discussed.

The prevalence and co-morbidity of subthreshold psychiatric conditions

2004 ◽  
Vol 34 (4) ◽  
pp. 613-622 ◽  
Author(s):  
PETER M. LEWINSOHN ◽  
STEWART A. SHANKMAN ◽  
JEFFREY M. GAU ◽  
DANIEL N. KLEIN
Keyword(s):  
Clinical Practice ◽  
Adolescent Depression ◽  
Internalizing Disorders ◽  
Externalizing Disorders ◽  
Diagnostic Interview ◽  
Future Research ◽  
Co Morbidity ◽  
Psychiatric Conditions ◽  
Dsm Iv ◽  
Males And Females

Background. In previous studies of subthreshold conditions, co-morbidity has been largely ignored. The purpose was to examine rates of co-morbidity among subthreshold disorders and between subthreshold and full-syndrome disorders for the major non-psychotic classes of disorders from DSM-IV.Method. Participants came from the Oregon Adolescent Depression Project (mean age=16·6 years; females=52·1%). On the basis of a diagnostic interview (K-SADS), participants were assigned to eight subthreshold disorders (MDD, bipolar, eating, anxiety, alcohol use, substance use, conduct, ADHD).Results. Of the 1704 adolescents in the analyses, 52·5% had at least one subthreshood disorder. Of those, 40·0% had also experienced a co-morbid subthreshold condition, and 29·9% of those had a second co-morbid subthreshold condition. Of those with a subthreshold, 36·4% also had a full syndrome. The subthreshold forms of externalizing disorders were co-morbid with each other. As expected, subthreshold anxiety was co-morbid with subthreshold MDD but subthreshold anxiety was also co-morbid with subthreshold alcohol, conduct, and ADHD. The pattern of co-morbidities was nearly identical for males and females.Conclusions. The hypotheses that externalizing disorders would be co-morbid with other externalizing disorders and that internalizing disorders would be co-morbid with other internalizing disorders was partially supported. Co-morbidities between subthreshold disorders and between subthreshold disorders and full syndrome should impact future research and clinical practice. The assessment of subthreshold disorders needs to include the assessment of other subthreshold and full-syndrome conditions.

Epidemiology of Epilepsy in Older Adults With an Intellectual Disability in Ireland: Associations and Service Implications

2014 ◽  
Vol 119 (3) ◽  
pp. 253-260 ◽  
Author(s):  
Mary McCarron ◽  
Marie O'Dwyer ◽  
Eilish Burke ◽  
Eimear McGlinchey ◽  
Philip McCallion
Keyword(s):  
Older Adults ◽  
Intellectual Disability ◽  
Longitudinal Study ◽  
Refractory Epilepsy ◽  
Demographic Variables ◽  
Health Conditions ◽  
Community Settings ◽  
Morbid Conditions

Abstract There are limited studies on the prevalence of epilepsy and co-morbid conditions in older adults with an ID. To begin to address this prevalence of epilepsy was estimated for participants in the Intellectual Disability Supplement to the Irish Longitudinal Study on Ageing. Associations with demographic variables and co morbid health conditions were examined. It was found that prevalence was high (30.7%); but declined as people aged. Those with epilepsy were less likely to live with family, independently or in community settings, rates of refractory epilepsy were high and, despite medication over half of those with epilepsy still reported experiencing seizures. Given these findings, people with ID and their careers have considerable needs for information about epilepsy management, and for support from specialist ID and epilepsy services.

Persons With Histories of Traumatic Brain Injury and Problematic Sexual Behavior: An Exploratory Analysis

2021 ◽  
pp. 0306624X2110668
Author(s):  
Carrie C. LeMay ◽  
Jill D. Stinson
Keyword(s):  
Sexual Behavior ◽  
Intellectual Disability ◽  
Brain Injury ◽  
Childhood Maltreatment ◽  
Brain Injuries ◽  
Exploratory Analysis ◽  
Empirical Literature ◽  
Care Group ◽  
Future Research ◽  
Childhood Experiences

Persons with traumatic brain injuries (TBI) who have engaged in problematic or illegal sexual behavior present with complex assessment and intervention needs yet remain understudied within the empirical literature. In the current exploratory analysis, important differences in adaptive and clinical functioning, adverse childhood experiences, and criminal offense history are examined in 25 persons with previous brain injury, 118 persons with intellectual disability but no known TBI, and 103 persons with no history of brain injury or intellectual disability, all of whom have engaged in problematic sexual behavior and who were residing in secure forensic inpatient care. Group differences were examined using comparisons of means and chi-squares. Results highlight important differences in education and employment experiences, diagnostic presentation, exposure to childhood maltreatment, and justice system involvement and characteristics of their sexual offense victims. Associations with prior literature and future research directions are discussed.

scholarly journals Initiation and Generalization of Self-Instructed Video Activity Schedules for Elementary Students With Intellectual Disability

2018 ◽  
Vol 53 (1) ◽  
pp. 51-62 ◽  
Author(s):  
Sally B. Shepley ◽  
Amy D. Spriggs ◽  
Mark D. Samudre ◽  
Emily C. Sartini
Keyword(s):  
Intellectual Disability ◽  
Elementary Students ◽  
Single Case ◽  
The Self ◽  
Future Research ◽  
Activity Schedules ◽  
Activity Schedule ◽  
Independent Variable ◽  
Self Instruction ◽  
Multiple Probe

This study evaluated the effects of progressive time delay (PTD) to teach four elementary students with intellectual disability on how to self-instruct using a video activity schedule. A single-case multiple probe across participants design with a multiple probe across environments design for each participant was used to assess the generalization of the self-instruction behavior to novel environments. All participants acquired the self-instruction behavior in their target environments. One participant generalized this behavior to a novel environment by the completion of the study, and the other three participants required introduction of the independent variable (PTD) to master acquisition in the two generalization environments. Implications for practitioners and suggestions for effective programming of generalization in future research are discussed.

Multicomponent Reading Interventions for Students With Intellectual Disability

2017 ◽  
Vol 39 (4) ◽  
pp. 229-242 ◽  
Author(s):  
Kemal Afacan ◽  
Kimber L. Wilkerson ◽  
Andrea L. Ruppar
Keyword(s):  
Intellectual Disability ◽  
Literature Review ◽  
General Education ◽  
Reading Instruction ◽  
Reading Skills ◽  
Word Reading ◽  
Reading Interventions ◽  
Future Research ◽  
Sight Word ◽  
The Impact

Reading instruction for students with intellectual disability (ID) has traditionally focused on single skill instruction such as sight word reading. Given that multicomponent reading interventions have been linked to improved reading skills across multiple reading components for students in general education, it is logical to examine the impact of multicomponent reading interventions for students with ID. The purpose of this literature review was to examine characteristics, outcomes, and quality of multicomponent reading interventions for students with ID. In this review, seven empirical articles fit the inclusionary criteria. Findings indicate that students with ID who were exposed to multicomponent reading programs significantly improved their reading skills compared to their peers with ID who received traditional sight word instruction or to their previous reading performance. This literature review highlights effective strategies used to provide multicomponent reading instruction to students with ID. Implications for reading instruction for students with ID are provided, along with implications for future research.

Instructional Practices, Priorities, and Preparedness for Educating Students With Autism and Intellectual Disability

2018 ◽  
Vol 34 (1) ◽  
pp. 3-14 ◽  
Author(s):  
Victoria F. Knight ◽  
Heartley B. Huber ◽  
Emily M. Kuntz ◽  
Erik W. Carter ◽  
A. Pablo Juarez
Keyword(s):  
Intellectual Disability ◽  
Instructional Practices ◽  
Special Educators ◽  
Future Research ◽  
Professional Judgment ◽  
Evidence Based ◽  
Wide Range ◽  
Students With Autism ◽  
Services And Supports ◽  
Instructional Decision

Improving educational outcomes for students with autism and intellectual disability requires delivering services and supports marked by evidence-based practices. We surveyed 535 special educators of students with autism and/or intellectual disability about (a) their implementation of 26 instructional practices, (b) their recent access to training and resources on those practices, (c) the factors they consider when deciding which practices to use, (d) the importance they place on various instructional areas (e.g., social skills, reading), and (e) their preparedness to provide that instruction. Although teachers reported implementing a wide range of evidence-based instructional practices, their recent access to training and resources was fairly limited. Special educators identified a constellation of factors informing their instructional decision making, placing emphasis on student needs and professional judgment. When considering instructional areas, a gap was evident between ratings of importance and preparedness. We address implications for strengthening professional development pathways and offer recommendations for future research.

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