Presence Of Intellectual Disability Research Articles

SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.

The aim of this study was to characterize the genotype and phenotype heterogeneity of patients with SCN1A gene mutations in the Polish population, fulfilling the criteria for the diagnosis of Dravet syndrome (DRVT). Particularly important was the analysis of the clinical course, the type of epileptic seizures and the co-occurrence of additional features such as intellectual disability, autism or neurological symptoms such as ataxia or gait disturbances. Based on their results and the available literature, the authors discuss potential predictors for DRVT. Identifying these early symptoms has important clinical significance, affecting the course and disease prognosis. 50 patients of the Pediatric Neurology Clinic of the Institute of Mother and Child in Warsaw clinically diagnosed with DRVT and carriers of SCN1A pathogenic variants were included. Clinical data were retrospectively collected from caregivers and available medical records. Patients in the study group did not differ significantly in parameters such as type of first seizure and typical epileptic seizures from those described in other studies. The age of onset of the first epileptic seizure was 2-9 months. The co-occurrence of intellectual disability was confirmed in 71% of patients and autism in 18%. The study did not show a correlation between genotype and phenotype, considering the severity of the disease course, clinical symptoms, response to treatment, the presence of intellectual disability, autism symptoms or ataxia. From the clinical course, a significant problem was the differentiation between complex febrile convulsions and symptoms of DRVT. The authors suggest that parameters such as the age of the first seizure, less than one year of age, the onset of a seizure up to 72 h after vaccination and the presence of more than two features of complex febrile seizures are more typical of DRVT, which should translate into adequate diagnostic and clinical management. The substantial decrease in the age of genetic verification of the diagnosis, as well as the decline in the use of sodium channel inhibitors, underscores the growing attention of pediatric neurologists in Poland to the diagnosis of DRVT.

The Prevalence and Correlates of Self-restraint in Individuals with Autism and/or Intellectual Disability: a Systematic Review and Meta-analysis

Abstract Purpose Self-restraint, purposeful restriction of one’s own bodily movements is observed in individuals with neurodevelopmental conditions. Case studies and cross-sectional investigations have reported that self-restraint co-occurs with self-injurious behaviour; however, small sample sizes limit understanding of prevalence and function. We aimed to synthesise the existing literature and estimate the pooled prevalence of self-restraint in autistic individuals and/or individuals with intellectual disability, and the pooled effect size with self-injury. Methods Six databases were systematically searched in accordance with PRISMA guidelines. Results A total of 21,567 papers were retrieved, with 15 samples from 13 records included in the analyses. The pooled prevalence estimate of self-restraint in individuals with autism and/or intellectual disability was 39%, 95% CI [26.25, 51.59]. Age and presence of autism significantly increased prevalence rates. Pooled prevalence estimates were consistent across gender, presence of intellectual disability, and type of measurement of self-restraint. Meta-analyses of 31 topographies of self-restraint revealed ‘holds or squeezes objects’ and ‘holding onto others, holding onto others’ clothing’ were the most prevalent behaviours amongst those who self-restrained (both 32%). The least prevalent behaviour was ‘chooses mechanical restraint’ (1%). Pooled prevalence estimates of self-restraint in individuals known to self-injure were 34%, 95% CI [21.36, 46.97], and 13%, 95% CI [5.01, 21.43], in individuals who did not self-injure. Self-restraint and self-injurious behaviour were positively correlated, r = 0.21, 95% CI [0.14, 0.27], K = 13. Conclusions Findings highlight that on average, over one third of individuals with autism and/or intellectual disability show self-restraint. Clinical and theoretical implications of findings are discussed.

Real-world evidence of epidemiology, patient characteristics, and mortality in people with drug-resistant epilepsy in the United Kingdom, 2011-2021.

A third of people with epilepsy are drug resistant. People with drug-resistant epilepsy (DRE) have a higher risk of mortality and physical injuries than those who respond to anti-seizure medication (ASM). This study describes patient characteristics, comorbidities, and mortality in people with DRE in the UK. The Clinical Practice Research Datalink was utilised to select people with DRE prescribed a third ASM between 1 January 2011 and 31 March 2021. Annual incidence and prevalence of DRE, patient characteristics, comorbidities, and mortality rates were analysed. Subgroup analysis was performed by age, sex, presence of intellectual disabilities and time from epilepsy diagnosis to DRE. A total of 34,647 people with DRE were included (mean ± SD age 42.68 ± 23.59years, 52.6% females). During the study period, annual DRE incidence ranged from 1.99% to 3.12%. As of 31 March 2021, DRE prevalence was 26.6% (95% confidence interval [CI] 26.3%-26.8%). A greater proportion of people with DRE resided in the most deprived regions, with 21.1% and 16.7% in the top two quintiles of the Index of Multiple Deprivation respectively, compared to < 15% in the three less deprived regions. All-cause mortality ranged from 3,687 to 4,802 per 100,000 persons with DRE, four times higher than that in the general population in the UK. Variations existed across subgroups. Considerable disease burden was observed in people with DRE in the UK. The findings emphasise the importance of early DRE diagnosis and appropriate disease management in people who develop DRE.

Prevalence of Psychotropic Medication Use and Psychotropic Polypharmacy in Autistic Adults With or Without Intellectual Disability.

The aim of this study was to compare the rates of psychotropic medication use and psychotropic polypharmacy between autistic adults with and without intellectual disability (ID) and to examine factors associated with psychotropic medication use and psychotropic polypharmacy in autistic adults, stratified by the presence of ID. We conducted a retrospective medical chart review of outpatients with an autism diagnosis aged 18years and older. The rates of psychotropic medication use and psychotropic polypharmacy were compared between autistic adults with and without ID. Subsequently, logistic regression analyses were performed to identify factors associated with psychotropic medication use and psychotropic polypharmacy in autistic adults with ID and those without ID, respectively. The rates of prevalence of psychotropic medication use and polypharmacy were significantly higher in participants with ID than those without ID (78.6% vs. 58.8% and 49.3% vs. 31.2%; p-values < 0.05). Age, gender, race, residence, presence of mood disorders, presence of schizophrenia, absence of anxiety disorder, number of psychiatric comorbidities, and presence of behaviors that challenge were significantly associated with these outcomes, depending on the presence/absence of ID. The need to optimize pharmacotherapy in autistic adults, stratifying by the presence of ID, is highlighted.

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.

Targeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation sequencing in epilepsy patients, contemporary large-scale research focuses on factors such as the size of TNGSP, the comparative advantages of exome or genome-wide sequencing over TNGSP, and the impact of clinical, electrophysiological, and demographic variables on genetic test performance. This study aims to elucidate the demographic and clinical factors influencing the performance of TNGSP in 138 Polish patients with epilepsy, recognizing the pivotal role of genetic testing in guiding patient management and therapy. A retrospective analysis was conducted on patients from a genetic clinic in Poznań, Poland, who underwent commercial gene panel studies at Invitae Corporation (USA) between 2020 and 2022. Patient groups were defined based on the age of onset of the first epileptic seizures, seizure type, gender, fever dependence of seizures, presence of intellectual disability or developmental delay, abnormalities in MRI, and the presence of dysmorphic features or congenital malformations. Seizure classification followed the 2017 ILAE criteria. Among the 138 patients, 30 (21.7%) exhibited a pathogenic or likely pathogenic variant, with a distribution of 20.7% in males and 22.5% in females. Diagnostic performance correlated with the patient's age at the onset of the first seizure and the type of seizure. Predominant variants were identified in the SCN1A, PRRT2, CDKL5, DEPDC5, TSC2, and SLC2A1 genes. Additionally, 12 genes (CACNA1A, SCN2A, GRIN2A, KCNQ2, CHD2, DYNC1H1, NEXMIF, SCN1B, DDX3X, EEF1A2, NPRL3, UBE3A) exhibited single instances of damage. Notably, novel variants were discovered in DEPDC5, SCN1A, TSC2, CDKL5, NPRL3, DYNC1H1, CHD2, and DDX3X. Identified variants were present in genes previously recognized in both European and non-European populations. A thorough examination of Variants of Uncertain Significance (VUSs), specifically focusing on gene copy number changes, may unveil more extensive chromosomal aberrations. The relatively frequent occurrence of pathological variants in X chromosome-linked genes in girls warrants further investigation, challenging the prevailing notion of male predominance in X-linked epilepsy.

Prognostic factors in epilepsy with eyelid myoclonia (Jeavons syndrome)

PurposeTo describe the prognostic factors of drug resistance in 40 patients with epilepsy with eyelid myoclonia or Jeavons syndrome. MethodRetrospective analysis from two French tertiary centers. ResultsForty patients were enrolled (31 females and 9 males; mean age at epilepsy onset: 6.2±3.4 years [range: 1–15 years]). Half of the patients (20/40) achieved at least a one-year remission from all seizure types. In the responders, seizure freedom was achieved after a mean 13.85±13.43 years from the onset of epilepsy (range: 1–44). The presence of intellectual disability and an earlier onset of the disease (≤5 years) were the most powerful predictors of poor seizure control (P=0.003 and P=0.005, respectively). When considering the age of onset, patients with early-onset seizures (≤5 years) presented more frequently with intellectual disabilities, psychiatric comorbidities, absences, and a major risk of refractoriness (70% versus 30%, P=0.01) than patients with onset after 5 years. At the last follow-up, 15 patients (37.5%) were taking a single drug, 16 (40%) were taking two, and seven (17.5%) were taking more than two. The most frequent drugs were valproate (23/40, 57.7%), followed by levetiracetam (16/40, 40%), and lamotrigine (14/40, 35%). ConclusionPatients with Jeavons syndrome present a high rate of pharmaco-resistance with the need for long-term treatment. Early onset of epilepsy and the presence of intellectual disability appeared to be the most relevant predictors of poor seizure control, suggesting the use of genetic tests to individualize specific etiologies and perhaps adapt the therapeutic strategy.

Interference effect of food and emotional stimuli in Stroop-like tasks for children and adults with Prader-Willi Syndrome

ABSTRACT Interference effect of food and emotional stimuli in Stroop-like tasks for children and adults with Prader-Willi Syndrome. The aim of this work was to study the way items related to food or emotion are processed by a population known to have difficulties with dietary restriction, namely individuals with Prader-Willi Syndrome (PWS). Given the presence of intellectual disability (ID) in PWS, our experiments were designed to examine whether these difficulties were specific to PWS or linked with their ID. Two modified Stroop tasks (i.e., a food version and an emotional version) were administered to seventy-four children (aged between 6 and 16 years old) divided into three groups (one with PWS, one with ID matched on age and Intellectual Quotient (IQ), and one healthy group matched on age) and to eighty-four adults (aged between 18 and 48 years old) distributed in the same three groups. For both tasks, a picture version was used for the children and a word version for the adults. For the food Stroop task, (Experiment 1), materials were composed of low or high-caloric food items and stimuli not related to food. The results show a food Stroop effect for children and adults with PWS that was absent in the group of healthy participants. Moreover, a food Stroop effect was also significant for adults with ID. For the emotional Stroop task (Experiment 2), materials were composed of negative, positive and neutral stimuli. The emotional Stroop effect was also obtained for children and adults with PWS as well as for the healthy group, but not for the age- and IQ-matched group. For the PWS groups, results show a preservation to process positive pictures for children and difficulties to process negative stimuli for both age-groups. These results suggest that people with PWS have difficulties in disengaging their attention when food stimuli are present in their environment and poorer abilities to process negative ones. These difficulties endure in adulthood.

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India

BackgroundDyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondyloepimetaphyseal dysplasias with identical radiological findings. The presence of intellectual disability in DMC and normal intellect in...

Multidimensional motor performance in children with autism mostly remains stable with age and predicts social communication delay, language delay, functional delay, and repetitive behavior severity after accounting for intellectual disability or cognitive delay: A SPARK dataset analysis.

When motor difficulties continue into adolescence/adulthood, they could negatively impact an individual with autism spectrum disorder (ASD)'s daily living skills, physical fitness, as well as physical and mental health/well-being. Few studies have examined motor difficulties in children with ASD as a function of sex or age; however, greater cognitive challenges are associated with worse general motor performance. Based on the Developmental Coordination Disorder-Questionnaire (DCD-Q) data from the SPARK study sample, 87%-88% children with ASD were at-risk for a general motor impairment that persisted until 15 years and was related to their core and co-occurring difficulties. Bhat et al. confirmed motor difficulties in children with ASD on multiple motor dimensions that predicted core and co-occurring conditions after accounting for age and sex. However, presence of intellectual disability (ID) or cognitive delay was not controlled in the previous analysis. Additionally, the effects of age, sex, and cognitive ability on multidimensional motor difficulties of the SPARK sample have not been discussed before. Therefore, this analysis examines the effects of age, sex, and cognitive ability (presence of ID or level of cognitive delay) on the motor performance of children from the SPARK sample using the DCD-Q. Except fine motor skills, multiple motor domains did not change with age in children with ASD. Females without ID improved their fine motor scores with age, and performed better compared to males without ID. Children with ASD and ID had greater motor difficulties across multiple motor domains than those without ID. Even after controlling for age, sex, and presence of ID/cognitive delay; motor performance was predictive of social communication skills, repetitive behavior severity, as well as language and functional delays. Gross motor skills contributed more than fine motor and general motor competence skills in predicting social communication delay. However, fine motor and general motor competence skills contributed more than gross motor skills in predicting repetitive behavior severity and language delay. Both, fine and gross motor skills predicted functional delay. In light of consistent findings on motor difficulties in children with ASD, adding motor issues as a specifier within the ASD definition could provide a clear clinical route for movement clinicians to address motor difficulties of individuals with ASD.

The role of intellectual disability with autism spectrum disorder and the documented cooccurring conditions: A population-based study.

Previous research has identified that patterns of cooccurring conditions (CoCs) associated with autism spectrum disorder (ASD) differ based on the presence of intellectual disability (ID). This study explored the association of documented CoCs among 8-year-old children with ASD and ID (ASD+ID, n=2416) and ASD without ID (ASD-ID, n=5372) identified by the Autism and Developmental Disabilities Monitoring Network, surveillance years (SYs) 2012 and 2014. After adjusting for demographic variables, record source, surveillance site, and SY, children with ASD+ID, as compared with children with ASD-ID, were more likely to have histories of nonspecific developmental delays and neurological disorders documented in their records but were less likely to have behavioral and psychiatric disorders. ID plays a key role on how children with ASD would experience other CoCs. Our results emphasize how understanding the pattern of CoCs in ASD+ID and ASD-ID can inform comprehensive and multidisciplinary approaches in assessment and management of children in order to develop targeted interventions to reduce possible CoCs or CoCs-related impairments.

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.

Drosophila multiple epidermal growth factor-like domains 8 (dMegf8) is a homolog of human MEGF8 MEGF8 encodes a multidomain transmembrane protein which is highly conserved across species. In humans, MEGF8 mutations cause a rare genetic disorder called Carpenter syndrome, which is frequently associated with abnormal left-right patterning, cardiac defects, and learning disabilities. MEGF8 is also associated with psychiatric disorders. Despite its clinical relevance, MEGF8 remains poorly characterized; and although it is highly conserved, studies on animal models of Megf8 are also very limited. The presence of intellectual disabilities in Carpenter syndrome patients and association of MEGF8 with psychiatric disorders indicate that mutations in MEGF8 cause underlying defects in synaptic structure and functions. In this study, we investigated the role of Drosophila dMegf8 in glutamatergic synapses of the larval neuromuscular junctions (NMJ) in both males and females. We show that dMegf8 localizes to NMJ synapses and is required for proper synaptic growth. dMegf8 mutant larvae and adults show severe motor coordination deficits. At the NMJ, dMegf8 mutants show altered localization of presynaptic and postsynaptic proteins, defects in synaptic ultrastructure, and neurotransmission. Interestingly, dMegf8 mutants have reduced levels of the Type II BMP receptor Wishful thinking (Wit). dMegf8 displays genetic interactions with neurexin-1 (dnrx) and wit, and in association with Dnrx and Wit plays an essential role in synapse organization. Our studies provide insights into human MEGF8 functions and potentially into mechanisms that may underlie intellectual disabilities observed in Carpenter syndrome as well as MEGF8-related synaptic structural and/or functional deficits in psychiatric disorders.SIGNIFICANCE STATEMENT Carpenter syndrome, known for over a century now, is a genetic disorder linked to mutations in Multiple Epidermal Growth Factor-like Domains 8 (MEGF8) gene and associated with intellectual disabilities among other symptoms. MEGF8 is also associated with psychiatric disorders. Despite the high genetic conservation and clinical relevance, the functions of MEGF8 remain largely uncharacterized. Patients with intellectual disabilities and psychiatric diseases often have an underlying defect in synaptic structure and function. This work defines the role of the fly homolog of human MEGF8, dMegf8, in glutamatergic synapse growth, organization, and function and provide insights into potential functions of MEGF8 in human central synapses and synaptic mechanisms that may underlie psychiatric disorders and intellectual disabilities seen in Carpenter syndrome.

Efficacy and Safety of Q10 Ubiquinol With Vitamins B and E in Neurodevelopmental Disorders: A Retrospective Chart Review.

Increased oxidative stress and defective mitochondrial functioning are shared features among many brain disorders. The aim of this study was to verify retrospectively the clinical efficacy and safety of a metabolic support therapy with Q10 ubiquinol, vitamin E and complex-B vitamins in various neurodevelopmental disorders. This retrospective chart review study included 59 patients (mean age 10.1 ± 1.2 y.o., range 2.5–39 years; M:F = 2.47:1), diagnosed with Autism Spectrum Disorder (n = 17), Autism Spectrum Disorder with co-morbid Intellectual Disability (n = 19), Intellectual Disability or Global Developmental Delay (n = 15), Attention-Deficit/Hyperactivity Disorder (n = 3) and Intellectual Disability in Phelan-McDermid syndrome due to chr. 22q13.33 deletion (n = 5). After a minimum of 3 months of therapy, a positive outcome was recorded in 45/59 (76.27%) patients, with Clinical Global Impression—Improvement scores ranging between 1 (“very much improved”) and 3 (“minimally improved”). The most widespread improvements were recorded in cognition (n = 26, 44.1%), adaptative functioning (n = 26, 44.1%) and social motivation (n = 19, 32.2%). Improvement rates differed by diagnosis, being observed most consistently in Phelan-McDermid Syndrome (5/5, 100%), followed by Intellectual Disability/Global Developmental Delay (13/15, 86.7%), Autism Spectrum Disorder with co-morbid Intellectual Disability (15/19, 78.9%), Autism Spectrum Disorder (11/17, 64.7%) and ADHD (1/3, 33.3%). No significant adverse event or side effect leading to treatment discontinuation were recorded. Mild side effects were reported in 18 (30.5%) patients, with the most frequent being increased hyperactivity (9/59, 15.3%). This retrospective chart review suggests that metabolic support therapy with Q10 ubiquinol, vitamin E and complex-B vitamins is well tolerated and produces some improvement in the majority of patients with neurodevelopmental disorders, especially in the presence of intellectual disability. Randomized controlled trials for each single neurodevelopmental disorder are now warranted to conclusively demonstrate the efficacy of these mitochondrial bioenergetic and antioxidant agents and to estimate their therapeutic effect size.

Agreement Between Caregivers' Concerns of Children's Developmental Problems and Professional Identification in Taiwan.

ObjectiveEarly detection of developmental delays relies on the accuracy of the caregivers' concerns of children's developmental problems. The aim of this study was to investigate the agreement between the caregivers' awareness of children's developmental problems and professional identification.MethodsCaregivers of 1,963 children (age range: 5–71 months; mean: 38.4 months) younger than 6 years old who were at risk of developmental delays and referred to the center for a comprehensive evaluation were enrolled in this study. Children were identified by a transdisciplinary team including a pediatric neurologist, a pediatric psychiatrist, two psychologists, two occupational therapists, two physical therapists, two speech therapists, a social worker, and a special instructor. A series of standardized developmental assessments were used to identify children with developmental delay. Retrospective chart reviews were conducted on all children to confirm specific developmental disorders.ResultsThe caregivers' initial concerns of cognitive, speech/language, emotional/behavioral, and motor and global development showed low agreement with the results of professional identification. The major disagreement was observed in the cognitive domain. Speech/language developmental concern was an important red-flag indicator of cognitive and emotional/behavioral developmental delays. The presence of intellectual disability, autism spectrum disorder, and attention deficit hyperactivity disorder was high in this study. When having caregivers' concerns about speech/language and emotional/behavioral development, the odds of children with autism spectrum disorder was 2.37 and 2.17 times greater than those without autism spectrum disorder, respectively. The presence of attention deficit hyperactivity disorder was significantly associated with concerns about cognitive and emotional/behavioral developmental delays. Child's age and mothers' level of education were significant indicators for detecting the child's developmental problems.ConclusionIt is recommended that assessing the cognitive developmental status is essential for all children in the identification process. Practitioners should not overlook caregivers' concern about speech/language and emotional/behavioral development. Transdisciplinary practitioners provide educational guidance to caregivers, especially in the domains of cognitive, speech/language, and emotional/behavioral development.

The role of physical environmental characteristics and intellectual disability in conduct problem trajectories across childhood: A population-based Cohort study

BackgroundThe paucity of research investigating the role of the physical environment in the developmental progression of conduct problems and the potential moderating effects of intellectual disability (ID) is surprising, given the clinical relevance of elucidating environmental determinants of disruptive behaviours. AimsTo use data from a large UK cohort study to assess associations between physical environmental exposures, ID, and conduct problem trajectories. MethodThe sample included 8168 Millennium Cohort Study children (1.9% with ID). Multilevel growth curve modelling was used to examine the role of physical environment characteristics in the developmental trajectories of conduct problems after adjustments for ID status. ResultsExposure to external environmental domains was not associated with differences in children's conduct problems across development. Alternatively, internal aspects of the household environment: spatial density (b = 0.40, p < .001) and damp problems (b = 0.14, p < .001) were both significantly associated with increased trajectories. Various individual and familial covariates were positively associated with conduct problems over time, including: presence of ID (b = 0.96, p < .001), autism spectrum disorder (b = 1.18, p < .001), male sex (b = 0.26, p < .001), poverty (b = 0.19, p < .001), maternal depression (b = 0.65, p < .001), and non-nuclear family structure (b = 0.35, p < .001). Positive ID status appeared to moderate the effects of internal household spatial density, reporting a non-linear negative association with spatial density and conduct problems across development (b = −1.08, p < .01). ConclusionsOur findings highlight the potential harmful consequences of poor internal residential conditions on children's development of disruptive behaviours.

59.1 ADHD IN AUTISM SPECTRUM DISORDER

The objective of this presentation is to assess the evidence for the comorbidity, impact, and treatment of ADHD in populations with autism spectrum disorder (ASD). A database search of peer-reviewed literature was conducted. Selected studies examining the prevalence, characteristics, and impact of ASD in ADHD were reviewed. Controlled trials published in English with sample sizes ≥10 examining the safety and efficacy of anti-ADHD medication in populations with ASD were analyzed. Data were extracted on relevant variables of study design, demographics, associated psychopathology, medication dose, efficacy, and tolerability. Because of the previous prohibition of the diagnosis of ASD and ADHD, most studies are contemporary. Up to three-quarters of young people with ASD have ADHD. Conversely, ASD traits are noted in up to 30% of youth with ADHD and are associated with poorer socialization and functioning. Nine controlled trials met the criteria: 5 with methylphenidate, 3 with atomoxetine, and 1 with guanfacine. Sample sizes ranged from 10 to 128, with a total (N) of 430 children. In all of the trials, the treatment response was significantly superior to placebo. However, almost all trials assessed only hyperactivity, and most included only participants with intellectual disability with high levels of irritability. While the response on hyperactivity for methylphenidate and atomoxetine was less than that observed in the neurotypical population, the response for guanfacine surpassed the results observed in neurotypical populations. More traditional response rates were noted in patients with normal IQ. Treatment-emergent mood effects were associated with methylphenidate and guanfacine treatments. Worse treatment outcomes were associated with lower intellectual capability compared to higher IQs, for both efficacy and adverse outcomes. There is an important bidirectional overlap between ADHD and ASD. Individuals with both disorders manifest more functional impairment necessitating treatment. There is a scarcity of controlled trials examining ADHD treatments in populations with ASD, particularly in intellectually capable individuals with ASD and in adults. Response to ADHD medications in ASD appears similar to neurotypical ADHD samples with higher IQs; however, it was adversely moderated by the presence of intellectual disability and mood lability.

The role of mentorship on social engagement among adolescents with autism spectrum disorders

BackgroundOne primary component of autism spectrum disorder (ASD) is difficulty with social communication and interaction. These challenges may impede upon postsecondary education and/or employment outcomes of young adults with ASD. Prior to the postsecondary transition, programming for adolescents mainly focuses on social skills training, although there are limitations in the generalizability of skills. Emerging work is beginning to explore the use of peer and adult mentors in benefiting social functioning among adolescents with ASD. Despite the benefits of adult mentorship among other populations, limited work has been conducted with students with ASD. MethodThis study utilized National Survey of Children’s Health data on 27,417 adolescents with an assessed diagnosis of ASD. The data also accounted for the presence of adult mentorship, and the level of social engagement. The current study sought to examine the moderating role of adult mentorship in the association between ASD status and social engagement. ResultsAs expected, adolescents with ASD had significantly lower levels of social engagement compared to peers. Adult mentorship was found to moderate the association between ASD status and social engagement when controlling for the adolescent’s age, ASD severity, family income level, presence of intellectual disability, and sex. Importantly, adolescents with ASD who had an adult mentor demonstrated a level of social engagement higher than their non-mentored typically-developing peers. ConclusionsFindings support the implementation of formal adult mentors to facilitate improvements in social functioning prior to the postsecondary transition.

Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.

Intellectual disability (ID) encompasses a clinically and genetically heterogeneous group of neurodevelopmental disorders that may present with psychiatric illness in up to 40% of cases. Despite the evidence for clinical utility of genetic panels in pediatrics, there are no published studies in adolescents/adults with ID or autism spectrum disorder (ASD). This study was approved by our institutional research ethics board. We retrospectively reviewed the medical charts of all patients evaluated between January 2017 and December 2019 in our adult neuropsychiatric genetics clinic at the McGill University Health Centre (MUHC), who had undergone a comprehensive ID/ASD gene panel. Thirty-four patients aged > 16years, affected by ID/ASD and/or other neuropsychiatric/behavioral disorders, were identified. Pathogenic or likely pathogenic variants were identified in one-third of our cohort (32%): 8 single-nucleotide variants in 8 genes (CASK, SHANK3, IQSEC2, CHD2, ZBTB20, TREX1, SON, and TUBB2A) and 3 copy number variants (17p13.3, 16p13.12p13.11, and 9p24.3p24.1). The presence of psychiatric/behavioral disorders, regardless of the co-occurrence of ID, and, at a borderline level, the presence of ID alone were associated with positive genetic findings (p = 0.024 and p = 0.054, respectively). Moreover, seizures were associated with positive genetic results (p = 0.024). One-third of individuals presenting with psychiatric illness who met our red flags for Mendelian diseases have pathogenic or likely pathogenic variants which can be identified using a comprehensive ID/ASD gene panel (~ 2500 genes) performed on an exome backbone.

Social impairment in children with epilepsy assessed by the social responsiveness scale.

Children with epilepsy are at risk for impaired social cognition and autism. We aimed at evaluating the utility of the social responsiveness scale (SRS) for assessment of social impairment in these children. Prospective study; the SRS was applied to a group of children with epilepsy and a healthy control group. Intellectual disability in the epilepsy group was assessed utilizing adapted versions of the Wechsler Intelligence and adaptive behavior scales. One hundred and one children with epilepsy and 92 healthy children were included. The majority of children in both groups had normal SRS scores. Significant differences were identified in children with high total scores indicating significant deficiencies in reciprocal social behavior; high scores were found in 16% of children with epilepsy versus 7% of normal children, p < .05, particularly involving social communication, p < .05. Intellectual disability was identified in 42% of children with epilepsy, particularly processing speed index, p < .001. Intellectual disability had a significant effect on total scores, p = .016. Children with epilepsy have increased risk of social impairments. Social impairments are more likely in the presence of intellectual disability. The SRS is a quick identification tool that can be employed in the outpatient setting.

Predictors of an earlier diagnosis of Autism Spectrum Disorder in children and adolescents: a systematic review (1987-2017).

Autism Spectrum Disorder (ASD) is an early onset neurodevelopmental disorder in which the first signs generally emerge at approximately 12months of age but its diagnosis is feasible only from the age of 18months. According to the literature, the average age of diagnosis ranges from 2.7 to 7.2years, which raises the question of factors associated with early diagnosis as a condition for early intervention. In this systematic review, we aim to identify clinical, social, and environmental factors associated with the age at which the diagnosis of ASD is confirmed in children. A literature search was performed in the Pubmed, Web of Sciences, PsycInfo, and Cochrane databases. Among the 530 publications identified, 50 were selected according to the inclusion criteria. This review focuses on studies conducted in 21 countries using data collected over a period from 1987 to 2017. These studies were published before December 31st, 2019. The results suggest that the diagnosis of ASD occurs earlier if there is a delay in social communication or the presence of intellectual disability. There is a low level of evidence concerning associations between the age at diagnosis and sex, race, parental education, or socioeconomic status and accessibility to health care. Further studies using large and well-characterized data sets are needed to simultaneously explore clinical and socio-environmental factors involved in early diagnosis.

Does rapid withdrawal of antiseizure medication increase risk of seizure recurrence in epilepsy? A Cochrane Review summary with commentary.

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