Candidate Socioemotional Remediation Program for Individuals with Intellectual Disability

2012 ◽  
Vol 117 (5) ◽  
pp. 368-383 ◽  
Author(s):  
Bronwyn Glaser ◽  
Amelie Lothe ◽  
Mélanie Chabloz ◽  
Daniel Dukes ◽  
Catherine Pasca ◽  
...  
Keyword(s):  
Working Memory ◽  
Intellectual Disability ◽  
Developmental Disabilities ◽  
Emotion Recognition ◽  
Developmental Delay ◽  
Socioemotional Functioning ◽  
Adult Participants ◽  
Remediation Time ◽  
Pediatric Populations ◽  
Nonverbal Reasoning

Abstract The authors developed a computerized program, Vis-à-Vis (VAV), to improve socioemotional functioning and working memory in children with developmental disabilities. The authors subsequently tested whether participants showed signs of improving the targeted skills. VAV is composed of three modules: Focus on the Eyes, Emotion Recognition and Understanding, and Working Memory. Ten children with idiopathic developmental delay completed four 20-min weekly sessions of VAV for 12 weeks with an adult. Participants were evaluated before (Time 0) and after (Time 1) training and 6 months after remediation (Time 2). Subjects improved on all three modules during training and on emotion recognition and nonverbal reasoning post-VAV. These gains were still present at Time 2. VAV is a promising new tool for working on socioemotional impairments in hard-to-treat pediatric populations.

scholarly journals Genetic testing in patients with global developmental delay/intellectual disabilities. A review

2015 ◽  
Vol 88 (3) ◽  
pp. 288-292 ◽  
Author(s):  
Diana Miclea ◽  
Loredana Peca ◽  
Zina Cuzmici ◽  
Ioan Victor Pop
Keyword(s):  
Intellectual Disability ◽  
Genetic Testing ◽  
Developmental Disabilities ◽  
Developmental Delay ◽  
Chromosomal Abnormalities ◽  
Fragile X ◽  
Genetic Disorders ◽  
Global Developmental Delay ◽  
European Guidelines ◽  
High Prevalence

Genetic factors are responsible for up to 40 % developmental disability cases, such as global developmental delay/ intellectual disability (GDD/DI). The American and more recently, the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI. 

scholarly journals Cerebrovascular diseases in two patients with entire NSD1 deletion

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Toshiyuki Itai ◽  
Satoko Miyatake ◽  
Taku Hatano ◽  
Nobutaka Hattori ◽  
Atsuko Ohno ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Brain Imaging ◽  
Developmental Delay ◽  
Movement Disorders ◽  
Subdural Hematoma ◽  
Early Onset ◽  
Cerebrovascular Diseases ◽  
Brain Contusion ◽  
Abnormal Gait

AbstractWe describe two patients with NSD1 deletion, who presented with early-onset, or recurrent cerebrovascular diseases (CVDs). A 39-year-old female showed developmental delay and abnormal gait in infancy, and developed slowly-progressive intellectual disability and movement disorders. Brain imaging suggested recurrent parenchymal hemorrhages. A 6-year-old male had tremor as a neonate and brain imaging revealed subdural hematoma and brain contusion. This report suggests possible involvement of CVDs associated with NSD1 deletion.

scholarly journals Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

2015 ◽  
Vol 18 (2) ◽  
pp. 168-173 ◽  
Author(s):  
Rolph Pfundt ◽  
Kat Kwiatkowski ◽  
Alan Roter ◽  
Anju Shukla ◽  
Eric Thorland ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Clinical Performance

scholarly journals Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

2021 ◽  
Author(s):  
Uirá Souto Melo ◽  
Devon Bonner ◽  
Kevin C. Kent Lloyd ◽  
Ala Moshiri ◽  
Brandon Willis ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Global Developmental Delay ◽  
Loss Of Function

IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep

2021 ◽  
Author(s):  
Evan Jiang ◽  
Mark P. Fitzgerald ◽  
Katherine L. Helbig ◽  
Ethan M. Goldberg
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Synapse Formation ◽  
De Novo ◽  
Interleukin 1 ◽  
Autism Spectrum ◽  
Neurological Dysfunction ◽  
Behavioral Disorder ◽  
Clinical Genetic ◽  
Severe Intellectual Disability

AbstractInterleukin-1 receptor accessory protein-like 1 (IL1RAPL1) encodes a protein that is highly expressed in neurons and has been shown to regulate neurite outgrowth as well as synapse formation and synaptic transmission. Clinically, mutations in or deletions of IL1RAPL1 have been associated with a spectrum of neurological dysfunction including autism spectrum disorder and nonsyndromic X-linked developmental delay/intellectual disability of varying severity. Nearly all reported cases are in males; in the few reported cases involving females, the clinical presentation was mild or the deletion was identified in phenotypically normal carriers in accordance with X-linked inheritance. Using genome-wide microarray analysis, we identified a novel de novo 373 kb interstitial deletion of the X chromosome (Xp21.1-p21.2) that includes exons 4 to 6 of the IL1RAPL1 gene in an 8-year-old girl with severe intellectual disability and behavioral disorder with a history of developmental regression. Overnight continuous video electroencephalography revealed electrical status epilepticus in sleep (ESES). This case expands the clinical genetic spectrum of IL1RAPL1-related neurodevelopmental disorders and highlights a new genetic association of ESES.

Lesions and reduced working memory impair emotion recognition in self and others

2021 ◽  
pp. 1-16
Author(s):  
Roland Neumann ◽  
Juliane Völker ◽  
Zsuzsanna Hajba ◽  
Sigrid Seiler
Keyword(s):  
Working Memory ◽  
Emotion Recognition

scholarly journals Characteristics of seizure frequency among Malaysian children diagnosed with structural– metabolic epilepsy

2012 ◽  
Vol 03 (03) ◽  
pp. 244-250 ◽  
Author(s):  
Muhannad RM Salih ◽  
Mohd Baidi Bahari ◽  
Mohamed Azmi Ahmad Hassali ◽  
Asrul Akmal Shafie ◽  
Omer Qutaiba B Al-lela ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Seizure Frequency ◽  
Substantial Reduction ◽  
Focal Seizure ◽  
Global Developmental Delay ◽  
Neurology Clinic ◽  
Collection Form ◽  
Metabolic Epilepsy

ABSTRACT Introduction: Seizure-free patients or substantial reduction in seizure frequency are the most important outcome measures in the management of epilepsy. The study aimed to evaluate the patterns of seizure frequency and its relationship with demographics, clinical characteristics, and outcomes. Materials and Methods: A retrospective cohort study was conducted at the Pediatric Neurology Clinic, Hospital Pulau Pinang. Over a period of 6 months, the required data were extracted from the medical records using a pre-designed data collection form. Results: Seizure frequency showed no significant association with patient’s demographics and clinical characteristic. However, significant reduction in seizure frequency from the baseline to the last follow-up visit was only seen in certain subgroups of patients including Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability, and patients with focal seizure. There was no significant association between seizure frequency and rate of adverse events. Polytherapy visits were associated with higher seizure frequency than monotherapy visits (27.97 ± 56.66, 10.94 ± 30.96 attack per month, respectively) (P < 0.001). There was a clear tendency to get antiepileptic drugs used at doses above the recommended range in polytherapy (8.4%) rather than in monotherapy (1.4%) visits (P < 0.001). A significant correlation was found between seizure frequency and number of visits per patient per year (r = 0.450, P < 0.001). Conclusion: Among children with structural–metabolic epilepsy, Malays, females, patients <4 years of age, patients with global developmental delay/intellectual disability and patients manifested with focal seizure are more responsive antiepileptic drug therapy than the other subgroups of patients.

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family

2016 ◽  
Vol 371 ◽  
pp. 121-125 ◽  
Author(s):  
Muhammad Imran Naseer ◽  
Mahmood Rasool ◽  
Mohammed M. Jan ◽  
Adeel G. Chaudhary ◽  
Peter Natesan Pushparaj ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Novel Mutation ◽  
Saudi Family
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