scholarly journals IQ in children with autism spectrum disorders: data from the Special Needs and Autism Project (SNAP)

2010 ◽  
Vol 41 (3) ◽  
pp. 619-627 ◽  
Author(s):  
T. Charman ◽  
A. Pickles ◽  
E. Simonoff ◽  
S. Chandler ◽  
T. Loucas ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Block Design ◽  
Epidemiological Studies ◽  
Autism Spectrum ◽  
Social Impairment ◽  
Severe Intellectual Disability ◽  
Average Intelligence ◽  
Sample Weighting ◽  
Clinically Significant ◽  
Few Data

BackgroundAutism spectrum disorder (ASD) was once considered to be highly associated with intellectual disability and to show a characteristic IQ profile, with strengths in performance over verbal abilities and a distinctive pattern of ‘peaks’ and ‘troughs’ at the subtest level. However, there are few data from epidemiological studies.MethodComprehensive clinical assessments were conducted with 156 children aged 10–14 years [mean (s.d.)=11.7 (0.9)], seen as part of an epidemiological study (81 childhood autism, 75 other ASD). A sample weighting procedure enabled us to estimate characteristics of the total ASD population.ResultsOf the 75 children with ASD, 55% had an intellectual disability (IQ<70) but only 16% had moderate to severe intellectual disability (IQ<50); 28% had average intelligence (115>IQ>85) but only 3% were of above average intelligence (IQ>115). There was some evidence for a clinically significant Performance/Verbal IQ (PIQ/VIQ) discrepancy but discrepant verbalversusperformance skills were not associated with a particular pattern of symptoms, as has been reported previously. There was mixed evidence of a characteristic subtest profile: whereas some previously reported patterns were supported (e.g. poor Comprehension), others were not (e.g. no ‘peak’ in Block Design). Adaptive skills were significantly lower than IQ and were associated with severity of early social impairment and also IQ.ConclusionsIn this epidemiological sample, ASD was less strongly associated with intellectual disability than traditionally held and there was only limited evidence of a distinctive IQ profile. Adaptive outcome was significantly impaired even for those children of average intelligence.

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.

scholarly journals Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

2013 ◽  
Vol 22 (16) ◽  
pp. 3306-3314 ◽  
Author(s):  
Lionel Van Maldergem ◽  
Qingming Hou ◽  
Vera M. Kalscheuer ◽  
Marlène Rio ◽  
Martine Doco-Fenzy ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Neurite Outgrowth ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Loss Of Function ◽  
Severe Intellectual Disability

scholarly journals Lesson study as a way of improving school-day navigation for pupils with severe intellectual disability and autism

2021 ◽  
Vol ahead-of-print (ahead-of-print) ◽  
Author(s):  
Kamilla Klefbeck
Keyword(s):  
Learning Disabilities ◽  
Intellectual Disability ◽  
Lesson Study ◽  
Autism Spectrum ◽  
Central Coherence ◽  
Variation Theory ◽  
Content Type ◽  
Severe Intellectual Disability ◽  
School Day

PurposeThis research explores lesson study as a way to enhance the quality of teaching for pupils with learning disabilities and autism spectrum disorder by observing changes to one pupil's (Wilma) active educational participation. The study also investigates if and in what ways the professional development impacted teaching practices.Design/methodology/approachFive teachers met with the author on four occasions. Between these meetings, the teachers delivered the lessons they had planned together. The author video recorded the meetings to discern how the teachers' expressions developed. The author shared their thoughts with another researcher to enable an interrater validity examination.FindingsThe implementation of the lesson study vehicle enabled the teachers to transform their thinking from mainly focusing on pupils' deficiencies to instead focusing on their strengths. A relationship was found between teachers' understanding of central coherence, their skills in adapting received instructions and pupils' abilities to process and contextualize information or discern the whole picture.Research limitations/implicationsResearch that involves teachers in the learning process emphasizes the relation between teachers’ thinking and their potential to enable the contextualized inclusion of pupils with learning disabilities.Originality/valueThis research offers important insights into how school-day navigation for pupils with severe intellectual disability and autism can be understood through the lens of variation theory; the teachers' repeated and adjusted use of the frame on the schedule strip enabled Wilma to discern what would happen next during the school day.

scholarly journals Association of Autism Onset, Epilepsy, and Behavior in a Community of Adults with Autism and Severe Intellectual Disability

2020 ◽  
Vol 10 (8) ◽  
pp. 486
Author(s):  
Stefano Damiani ◽  
Pietro Leali ◽  
Guido Nosari ◽  
Monica Caviglia ◽  
Mariangela V. Puci ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Autism Spectrum ◽  
P Value ◽  
Adults With Autism ◽  
Behavioral Profiles ◽  
Severe Intellectual Disability ◽  
Spectrum Disorders ◽  
Farm Community ◽  
Clinical Conditions ◽  
And Behavior

Autism spectrum disorders (ASDs) are hard to characterize due to their clinical heterogeneity. Whether epilepsy and other highly prevalent comorbidities may be related to specific subphenotypes such as regressive ASD (i.e., the onset of symptoms after a period of apparently typical development) is controversial and yet to be determined. Such discrepancies may be related to the fact that age, level of cognitive functioning, and environmental variables are often not taken into account. We considered a sample of 20 subjects (i) between 20 and 55 years of age, (ii) with severe/profound intellectual disability, (iii) living in the same rural context of a farm community. As a primary aim, we tested for the association between epilepsy and regressive ASD. Secondly, we explored differences in behavioral and pharmacological profiles related to the presence of each of these conditions, as worse behavioral profiles have been separately associated with both epilepsy and regressive ASD in previous studies. An initial trend was observed for associations between the presence of epilepsy and regressive ASD (odds ratio: 5.33; 95% CI: 0.62–45.41, p-value: 0.086). Secondly, subjects with either regressive ASD or epilepsy showed worse behavioral profiles (despite the higher pharmacotherapy they received). These preliminary results, which need to be further confirmed, suggest the presence of specific associations of different clinical conditions in subjects with rarely investigated phenotypes.

scholarly journals 0974 Family-Based Study Of Sleep In Autism Spectrum Disorder Without Intellectual Disability

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A370-A370
Author(s):  
S D Elkhatib Smidt ◽  
A Ghorai ◽  
B Gehringer ◽  
H C Dow ◽  
Z Smernoff ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Inverse Correlation ◽  
Social Function ◽  
Autism Spectrum ◽  
Social Impairment ◽  
Relative Amplitude ◽  
University Of Pennsylvania ◽  
Daytime Activity ◽  
The University

Abstract Introduction Sleep problems are a common concern in children with autism spectrum disorder (ASD) that can persist into adulthood. This study aims to further explore sleep in ASD without intellectual disability (ASD w/o ID). Methods We recruited individuals with ASD w/o ID (probands) and relatives as part of the Autism Spectrum Program of Excellence (ASPE) at the University of Pennsylvania. Actimetry data were collected via a wrist-worn tri-axial accelerometer for 21 days. Data from 212 participants were considered. We analyzed sleep data using the algorithms GGIR, ChronoSapiens, and PennZzz. The sleep traits of proband and sibling pairs were compared using paired t-test or Wilcoxon signed-rank test. We used the Social Responsiveness Scale, Second Edition (SRS-2) to assess social impairment and restricted/repetitive traits. We compared SRS-2 scores to sleep traits using partial Spearman or Pearson correlations adjusting for age (171 participants). Results Probands demonstrated later sleep onset (p = 0.03), decreased M10 average (10-hour period of highest activity/day; p = 0.006), decreased relative amplitude (measure of rest-activity rhythm; p&lt;0.001), and decreased total daytime activity (p = 0.005) compared to siblings. Regarding social function and restricted/repetitive traits, adult males showed an inverse correlation between SRS-2 total score and sleep efficiency (r = -0.2, p= 0.04) and a positive correlation between SRS-2 total score and intradaily variability (r = 0.3, p = 0.02). Adult females showed an inverse correlation between SRS-2 total score and M10 average (r = -0.3, p = 0.02) and between SRS-2 total score and relative amplitude (self-report r = -0.4, p = 0.001; informant r = -0.3, p = 0.005). Conclusion This study focuses on the analysis of sleep traits in ASD including the relationship between social function and sleep. Thus far, the most robust findings are decreased daytime activity and relative amplitude in individuals with ASD w/o ID compared to siblings. We have also shown that ASD social impairment may be related to sleep dysfunction. Support NIH T32HL07713, anonymous donor, and the Institute for Translational Medicine and Therapeutics of the Perelman School of Medicine at the University of Pennsylvania.

scholarly journals A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report

2021 ◽  
Vol 49 (11) ◽  
pp. 030006052110583
Author(s):  
Tong Qiu ◽  
Qian Dai ◽  
Qiu Wang
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Developmental Delay ◽  
De Novo ◽  
Clinical Symptoms ◽  
Genetic Diagnosis ◽  
Epileptic Seizures ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Severe Intellectual Disability

ARHGEF9 encodes collybistin, a brain-specific guanosine diphosphate-guanosine-5′-triphosphate exchange factor that plays an important role in clustering of gephyrin and γ-aminobutyric acid type A receptors in the postsynaptic membrane. Overwhelming evidence suggests that defects in this protein can cause X-linked intellectual disability, which comprises a series of clinical phenotypes, including autism spectrum disorder, behavior disorder, intellectual disability, and febrile seizures. Here, we report a boy with clinical symptoms of severe intellectual disability, epilepsy, and developmental delay and regression. Trio exome sequencing ( trio-clinical exome sequencing) identified a novel hemizygous deletion, c.656_c.669delACTTCTTTGAGGCC (p. His219Leu fs*9), in exon 5 of ARHGEF9. This variant was not reported in either the Genome Aggregation Database or our database of 309 patients with neurodevelopmental disorders. Oxcarbazepine and levetiracetam reduced the frequency of the patient’s epileptic seizures to a certain extent, but psychomotor developmental delay and developmental regression became more obvious with age. This case study seeks to report a de novo loss-of-function mutation of ARHGEF9, aiming to emphasize the genetic diagnosis of X-linked intellectual disability and further improve knowledge of the ethnic distribution of ARHGEF9 mutations.

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