Comorbid Intellectual Disability Research Articles

Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.

To examine the refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population. A total of 98 patients with TSC were enrolled in Severance Hospital for a retrospective cohort study. The number of retinal astrocytic hamartoma and retinal achromic patch within a patient, as well as the size, bilaterality, and morphological type were studied. In addition, the refractive status of patients and the comorbidity of intellectual disability and epilepsy were also examined. Retinal astrocytic hamartoma was found in 37 patients, and bilateral invasion was observed in 20 patients (54%). TSC1 mutation was associated with myopia (p=0.01), while TSC2 mutation was associated with emmetropia (p=0.01). Retinal astrocytic hamartoma was categorized into three morphological types and examined as follows: type I (87%), type II (35%), and type III (14%). Single invasion of retinal astrocytic hamartoma was identified in 32% of the patients, and multiple invasions in 68%. The TSC1/TSC2 detection rate was 91% (41/45). Among them, TSC1 variant was detected in 23 patients (54%), whereas TSC2 variant was detected in 18 patients (40%). The results showed that TSC2 mutations are correlated with a higher rate of retinal astrocytic hamartoma involvement (all p<0.05), and multiple and bilateral involvement of retinal hamartomas (all p<0.05). However, the size of retinal astrocytic hamartomas, comorbidity of epilepsy, or intellectual disability did not show correlation with the genetic variant. TSC1 variant patients were more myopic, while TSC2 variant patients showed association with more extensive involvement of retinal astrocytic hamartoma.

Peer mediation in play settings for minimally verbal students with autism Spectrum disorder.

Peer-mediated interventions (PMIs) are effective strategies to foster socialization of children with autism spectrum disorder (ASD) in natural settings. However, research examining the efficacy of peer mediation for students with ASD who have the greatest cognitive and language impairments remains limited. Additionally, previous studies essentially targeted communicative abilities of participants. To address this gap, the present study evaluated the effects of a play-based PMI on three socio-communicative skills (play, social engagement and imitation) of minimally verbal students with ASD who also have a comorbidity of intellectual disability (ID). Seven children with ASD attending ordinary school settings and 14 typically developing (TD) preschoolers participated. Seven single-sex groups were formed, and children played together during two 30 min weekly sessions. TD children were trained according to the principles of the integrated play group model. We used a multiple-baseline design across participants to measure the effects of the intervention on play skills, social engagement and motor imitation of students with ASD. Outcomes revealed an intervention effect for most of the participants, despite some variations across children. After the peer training, four children increased their duration of functional/symbolic play, six children improved their duration of interactive play and five children increased their rates of motor imitation. Concerning maintenance gains, inter-individual differences are also important. These findings suggest that a play-based PMI may be a feasible option for targeting inclusive education and improving socio-communicative skills of some minimally verbal students with ASD who also have an ID. However, variations across children invite further research to clarify how individual factors can moderate the effects of PMIs in children with ASD who are the most impaired.

Migration modulates the prevalence of ASD and ADHD: a systematic review and meta-analysis

BackgroundMigration has been implicated as a risk factor for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), but evidence is still limited and inconsistent. We aim to investigate the relationship between migration status and risk of ASD and ADHD.MethodsElectronic databases including PubMed, EMBASE, Web of Science, and PsychINFO were searched to identify observational studies on this topic, from inception to February 2021. Random-effects meta-analysis models were used to pool the summary odds ratio (OR) and 95% confidence interval (95% CI), and subgroup analyses were conducted to detect possible discrepancies in associations. Certainty of evidence was assessed as per the Grading of Recommendations, Assessment, Development and Evaluations (GRADE) guidelines.ResultsA total of 13 studies (6,532,546 participants) for ASD, five studies (2,875,070 participants) for ADHD, and six studies (31,158 participants) for hyperactivity were included. Overall, the pooled results indicated that migration was associated with increased risk of ASD (pooled OR: 1.32; 95% CI: 1.07–1.63; P for Z test = 0.010), but no association was found between migration and ADHD (pooled OR: 0.84; 95% CI: 0.53–1.32; P for Z test = 0.452) or hyperactivity (pooled standardized mean difference: -0.073; 95% CIs: − 0.383–0.236; P for Z test = 0.642). Subgroup analyses further demonstrated that maternal migration was ASD risk factor (pooled OR: 1.49; 95% CI: 1.19–1.87), and migrant children were more likely to develop ASD with comorbid intellectual disability (ID) (pooled OR: 1.21, P for interaction = 0.006) than ASD without ID. After standardized the origin of migrants, European migrant children from Americas were at higher risk of ASD and ADHD (pooled OR were 4.13 and 1.26), and increased ASD risk was also observed in African children (pooled OR: 2.72). The GRADE of evidence was very low.ConclusionsMaternal migration is a risk factor for ASD, and migrant ASD children are more likely comorbid ID. The role of migration on ADHD remains controversial, more studies are needed to assess the association between migration status and ADHD. Health care practitioners should consider screening and providing extra resources for migrant children.

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.

Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.

Objective: Psychiatric comorbidity is common in fragile X syndrome (FXS) and often addressed through pharmacological management. Here we examine data in the Fragile X Online Registry With Accessible Research Database (FORWARD) to characterize specific symptoms being treated with psychotropic medication, patterns of medication use, as well as the influence of gender, intellectual disability (ID), age, and autism spectrum disorder (ASD) diagnosis. Methods: Data were drawn from the 975 participants who have a completed clinician form. We explored the frequency of psychotropic medication use for the following symptom clusters: attention, hyperactivity, anxiety, hypersensitivity, obsessive-compulsive disorder (OCD), mood swings, irritability/agitation, aggression, and self-injury (IAAS). Results: A majority of participants (617 or 63.3%) were taking a psychotropic medication, including investigational drugs. Medications were often targeting multiple symptoms. Psychotropic medication use was more common in males, adolescents, and those with comorbid ID and ASD. Anxiety was the most frequently targeted symptom, followed by attention-deficit/hyperactivity disorder symptoms and IAAS. Selective serotonin reuptake inhibitors (SSRIs) were the most frequently prescribed medication class among all patients (n = 266, 43%), followed by stimulants (n = 235, 38%), each with no gender difference. Antipsychotics were the third most frequently prescribed medication class (n = 205, 33%), and were more frequently prescribed to males and those with ID and ASD. Conclusions: Anxiety, attention and hyperactivity were the most common symptom targets for psychopharmacologic intervention in FXS. Our results support clinical knowledge that males with comorbid ASD and ID have a more severe presentation requiring more intervention including medications. These results highlight the need for examination of symptom overlap and interaction.

Educational Approaches to Improve Communication Skills of Learners with Autism Spectrum Disorder and Comorbid Intellectual Disability: An Integrative Systematic Review

ABSTRACT Enabling functional communication is critical for accessibility in school and society for all pupils. This systematic review analyzed the results of educational studies on developing communication skills for learners (≤21 years) with autism spectrum disorder and comorbid intellectual disability. Systematic database searches were conducted using ERIC, MEDLINE, and PsycINFO. Seventeen of 208 peer-reviewed articles in English published between 1990 and 2020 met the inclusion criteria. The analysis identified various educational approaches, ranging from using alternative linguistic tools (e.g., signs and gestures) to physical devices (e.g., visual cues), and also examined instructional approaches used by educators. The synthesis shows heterogeneity of methods used, resulting in weak evidence for any model’s impact on this pupil group’s communication skills development and concomitant possibilities to affect their school situation. In addition, the analysis demonstrated that personnel performance crucially affects children’s opportunities to learn regardless of the approach used. Directions for future research are concluded.

Male to female ratios in autism spectrum disorders by age, intellectual disability and attention-deficit/hyperactivity disorder.

To examine the gender distribution in ASD in adults compared with children and the impact of comorbid intellectual disability (ID) and attention-deficit/hyperactivity disorder (ADHD) on the male to female ratio (MFR). We estimated the MFR and the male prevalence ratio (PR) for ASD in adults and children using the Medical Birth Registry of Norway, including all individuals born during 1967-2011. We examined variation with age, comorbid ID and ADHD as defined by diagnoses in the Norwegian Patient Registry during 2008-2015 and/or a dispensed prescription for ADHD medication. The sample included 1,701,206 adults and 804,146 children, including 8,995 (0.5%) adults and 8,056 (1.0%) children with ASD, 53,822 (3.2%) adults and 26,967 (3.4%) children with ADHD and 9,178 (0.5%) adults and 5,038 (0.6%) children with ID. The MFR for ASD was 3.67 in children and 2.57 in adults, corresponding to a male PR in ASD of 1.54 (95% CI 1.53-1.56) and 1.41 (1.39-1.24), respectively. Comorbid ID decreased the MFR and the male PR in both adults and children, whereas comorbid ADHD significantly increased the male PR in children. The MFR and the population prevalence of ASD, ADHD and ID decreased from children to younger adults and yet further to older adults. We found a lower MFR and male PR in adults than in children. Findings suggest the strong male predominance seen in childhood/clinical studies of ASD diminishes in adult samples, possibly reflecting the influence of non-aetiological factors such as later diagnosis in females, diagnostic biases and diagnostic trends.

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.

Cerebral palsy is the most prevalent physical disability in children; however, its inherent molecular mechanisms remain unclear. In the present study, we performed in-depth clinical and molecular analysis on 120 idiopathic cerebral palsy families, and identified underlying detrimental genetic variants in 45% of these patients. In addition to germline variants, we found disease-related postzygotic mutations in ∼6.7% of cerebral palsy patients. We found that patients with more severe motor impairments or a comorbidity of intellectual disability had a significantly higher chance of harbouring disease-related variants. By a compilation of 114 known cerebral-palsy-related genes, we identified characteristic features in terms of inheritance and function, from which we proposed a dichotomous classification system according to the expression patterns of these genes and associated cognitive impairments. In two patients with both cerebral palsy and intellectual disability, we revealed that the defective TYW1, a tRNA hypermodification enzyme, caused primary microcephaly and problems in motion and cognition by hindering neuronal proliferation and migration. Furthermore, we developed an algorithm and demonstrated in mouse brains that this malfunctioning hypermodification specifically perturbed the translation of a subset of proteins involved in cell cycling. This finding provided a novel and interesting mechanism for congenital microcephaly. In another cerebral palsy patient with normal intelligence, we identified a mitochondrial enzyme GPAM, the hypomorphic form of which led to hypomyelination of the corticospinal tract in both human and mouse models. In addition, we confirmed that the aberrant Gpam in mice perturbed the lipid metabolism in astrocytes, resulting in suppressed astrocytic proliferation and a shortage of lipid contents supplied for oligodendrocytic myelination. Taken together, our findings elucidate novel aspects of the aetiology of cerebral palsy and provide insights for future therapeutic strategies.

The Relationship between Motor Skills and Intelligence in Children with Autism Spectrum Disorder.

This study explored the association between intelligence and motor skills in children with ASD after controlling for Attention Deficit and Hyperactivity Disorder (ADHD) and the associations between motor impairment and intellectual disability (ID) in this population. In total, 120 children with ASD (3-16years; 81.7% boys) completed a standardized intelligence test, the Movement Assessment Battery for Children and Beery-Buktenica Developmental Test of Visual-Motor Integration. Variance in performance IQ was associated with 20.8% of the variance in motor skills while significant associations were found between comorbid ID and motor impairment (ɸ = 0.304). Manual Dexterity and Balance are moderately influenced by performance IQ in children with ASD. Furthermore, presence of ID is also moderately associated with motor impairment in this population.

Trajectories of Dysregulation in Children with Autism Spectrum Disorder

ABSTRACT Objective: This study determined whether child and family environment factors are associated with differences in developmental trajectories of emotional and behavioral dysregulation in children with autism spectrum disorder (ASD). Method: Participants included 186 families of a child with ASD (5–12 years old at baseline; 86% male; 83% non-Hispanic Caucasian; 35% comorbid intellectual disability). At each of the four time points (each spaced 12 months apart), mothers and fathers within each family completed well-validated measures on their own mental health, their child’s dysregulation, their parent–child relationship, and their parent couple relationship. Longitudinal multi-level modeling was used to describe trajectories of dysregulation across 3 years and test whether parent depression, closeness in the parent–child relationship, and positive parent dyadic coping were associated with differences in child trajectories. Results: On average, child dysregulation decreased across time. Closer mother-child and father–child relationship quality was associated with lower baseline dysregulation. More severe child restricted and repetitive behaviors, fewer maternal depression symptoms, and more positive parent dyadic coping were associated with declines in child dysregulation over time. Conclusions: On average, children with ASD become less dysregulated across time. However, there is important variability in dysregulation trajectories of children with ASD. Children with ASD who have a high (versus low) severity of restricted and repetitive behaviors appear to be at risk for greater dysregulation. The family environment, and specifically a closer parent–child relationship, better maternal mental health, and more positive couple coping, may contribute to a pattern of improved child regulation across time in ASD.

Evidence to Inform Occupational Therapy Intervention With Adults With Intellectual Disability: A Scoping Review.

Occupational therapy practitioners use a range of habilitative and compensatory approaches to teach new skills or modify tasks and environments to address occupational performance among adults with intellectual disability (ID); therefore, they must identify and use available evidence to guide intervention planning. To summarize the scope of evidence that can inform occupational therapy intervention with adults with primary or comorbid ID. Articles published in peer-reviewed journals between January 2002 and January 2018 and indexed in PubMed, CINAHL, PsycINFO, and Scopus. Study Selection and Data Collection: A total of 159 articles met inclusion criteria and contained information on occupational therapy intervention with adults ages 18 yr or older with primary or coexisting ID. Fifty-seven of the 159 articles focused on intervention to address occupational performance outcomes (i.e., employment, self-care, leisure and social interaction, community participation). A wide range of literature is available to support occupational therapy intervention with adults with ID. Occupational therapy practitioners may be less knowledgeable about this evidence because much of it is located in non-occupational therapy or international journals. What This Article Adds: This scoping review provides occupational therapy practitioners with evidence to support high-quality occupational therapy intervention with adults with ID.

Needs assessment: knowledge of self-management of asthma for children with co-morbid physical and intellectual disabilities: brief report

Objectives: The main goal of this study was to conduct a needs assessment to ascertain professionals’ and parents’ knowledge of and perceptions about education for self-management of asthma for children with physical and intellectual disabilities (IDs). Another goal was to understand needs for education of children with IDs about severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2; coronavirus) and other infectious diseases. Methods: Surveys, presented in the RedCap system, were administered online. Respondents (n = 498) were recruited through sites and listservs for children with disabilities and individuals with asthma. Respondents answered eight questions about knowledge and education for self-management of asthma for children with physical disabilities and IDs. Respondents answered four questions pertaining to management of coronavirus for children with IDs. Results: Respondents’ indicated that it would be easier to educate youth with mild or moderate versus severe levels of disabilities. Children with IDs may not receive the education they need to manage their asthma. When comparing those in different occupations, teachers reported lower knowledge for educating children with IDs about asthma management and coronavirus. Conclusions: Doctors and nurses can develop programs for children with physical disabilities and IDs. Programming for youth with severe impairments is needed and perhaps developmentally appropriate programming for youth with IDs will improve education of youth and, concomitantly improve their self-management of asthma and potentially quality of life. Educating teachers is critical specifically about asthma triggers, how to involve youth in self-care, and how to educate children with IDs about coronavirus. Abbreviations: U.S.: United States; IDs: intellectual disabilities

Behavior Disorders and Social Skills in Adolescents with Intellectual Disability: Does Co-Morbid Autism Matter?

ABSTRACT Background: Teenage youth with co-morbid intellectual disability (ID) and autism spectrum disorder (ASD) could be at higher risk for behavioral and social difficulties than youth with ID only. Methods: Youth aged 13 years were diagnosed with ID (n = 37), ID/ASD (n = 26), or typical development (TD, n = 98). Mothers and teachers completed measures of youth behavior problems, mental health, social skills, friendships, and their own well-being. Results: ID/ASD youth were at heightened risk across almost all measures when compared with TD youth. On 14 of the 38 domains assessed, ID/ASD youth had significantly more difficulties than youth with ID only. Most notably, they scored higher on internalizing problems and lower on friendships and peer acceptance. Their mothers reported lower well-being for themselves. Conclusion: Compared to families of youth with ID only, youth with combined ID/ASD experienced greater psychological and social difficulties and their mothers experienced lower-well-being.

Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability

PurposeThe aim of this retrospective study is to investigate the genetic etiology and propose a diagnostic strategy for pediatric patients with epilepsy and comorbid intellectual disability (ID). MethodsFrom September 2014 to May 2020, a total of 102 pediatric patients diagnosed with epilepsy with co-morbid ID with unknown causes were included in this study. All patients underwent tests of single nucleotide polymorphism (SNP) array for chromosomal abnormalities. Whole exome sequencing (WES) was consecutively performed in patients without diagnostic copy number variants (CNVs) (n = 85) for single nucleotide variants (SNVs). Subgroup analyses based on the age of seizure onset and ID severity were done. ResultsThe overall diagnostic yield of genetic aberrations was 33.3 % (34/102), which comprised 50.0 % with diagnostic CNVs and 50.0 % with diagnostic SNVs. The yield nominally increased with ID severity and decreased with age of seizure onset, though this result was not statistically significant. The diagnostic yield of SNVs in patients with seizure onset in the first year of life (25.0 % (11/44)) was significantly higher than those with childhood-onset epilepsy (10.3 % (6/58)) (p = 0.049), however, the diagnostic yield of CNVs in patients with childhood-onset epilepsy (17.2 % (10/58) was higher than the diagnostic yield of SNVs (10.3 % (6/58)). The most frequently syndromic epilepsy detected by SNP array was Angelman syndrome (n=4), including one confirmed with paternal uniparental disomy. Meanwhile, the most frequent SNVs were mutations of MECP2 (n=2) and IQSEC2 (n = 2) in sporadic cases. ConclusionBoth CMA and WES are advantageous as unbiased approaches for a genetically heterogeneous condition. We proposed an effective diagnostic strategy for pediatric patients with epilepsy. For patients with seizure onset in the first year of life, WES is recommended as the first-tier test. However, for patients with childhood-onset epilepsy, SNP array should be considered for the first-tier test.

Utilization of Art Therapy with Children with ADHD Co-Morbid Intellectual Disability for Decreasing Inattention

The research aimed to examine the positive role art therapy could play in improving the attention span of children with Attention-Deficit/Hyperactivity Disorder co-morbid Intellectual Disability in the context of Karachi (Pakistan). The key presumption was that art therapy can help in decreasing inattention among the children with ADHD co-morbid Intellectual Disability. Purposive sampling was used for the selection of cases from schools in Karachi (Pakistan) which are offering educational services to the children with special needs. The sample comprised 14 children, ages 6 to 12 years (mean age= 7.391; SD = 1.315) with ADHD co-morbid Mild ID. Experimental design was adopted for carrying out the investigation, entailing the division of the sample into the treatment group (which received 25 art therapy sessions as a form of intervention) and control group (which was provided with regular classroom activities). The allocation of children to both groups was carried out through the ABBA technique as well as the use of observation. The tools of the Attention Deficit Hyperactivity Disorder test were used to gauge the differences in the level of inattention in both groups. Analysis of data was conducted through SPSS version 17.0, using descriptive statistics to examine the pattern of data as well as identify the level of effectiveness of art therapy through administering the Wilcoxon test. The findings of the study support the assumption that art therapy is useful for curtailing impulsiveness in children with ADHD. Therefore, it can be concluded that art therapy is likely to bring positive changes in the level of attention in children with ADHD co-morbid ID. The study carries implications for individuals practicing in the field of mental health care and special education.

Music therapy as social skill intervention for children with comorbid ASD and ID: study protocol for a randomized controlled trial

BackgroundAutism spectrum disorder (ASD) is a developmental impairment characterized by persistent deficits in social communication and interactions, and over half of children with ASD possess below average intellectual ability (IQ < 85). The social development and response to social skill interventions among children with ASD and comorbid intellectual disability (ID) is not well understood. Music therapy is a systematic process of intervention, wherein a therapist may help clients promote their social skills by using musical experience. The proposed study will address limited research evidence on music therapy as an intervention for social functioning in children with ASD with mild to borderline ID.MethodA randomized controlled trial (RCT) with two parallel groups of 40 children each (1:1 allocation ratio) is planned. Participants will receive 45 min of music therapy or non-musical intervention targeting social skills once a week for 12 weeks. Primary outcome measures will be independent ratings on the Childhood Autism Rating Scale and parent ratings on the Social Responsiveness Scale-2. Linear mixed-effects models for these two outcome measures will be created for data collected at 2-week pre-intervention, 2-week post-intervention, and 4-month post-intervention sessions. In-session behaviors at the first and last intervention will be videotaped and coded offline and compared. Pretreatment neural response of quantitative electroencephalograms (qEEG) to social scenes will be used to predict the outcomes of musical and non-musical social skill interventions, whereas qEEG responses to music will be used to predict the effectiveness of musical social skill intervention.DiscussionIf neural markers of social skill development are found, then the long-term goal is to develop individualized intervention based on pre-treatment markers to maximize treatment efficacy. The proposed study’s results may also suggest directions to development and provision of music therapy services in Hong Kong.Trial registrationClinicalTrials.gov (NCT04557488). Registered September 21, 2020.

High genetic burden in 163 Chinese children with status epilepticus

PurposeThis study aimed to investigate the genetic aetiology in Chinese children diagnosed with status epilepticus (SE). MethodsNext-generation sequencing, copy number variation (CNV) analysis, and other genetic testing methods were conducted for children with SE lacking an identifiable non-genetic aetiology. Furthermore, the phenotype and molecular data of patients with SE were retrospectively analysed. ResultsAmong children with SE lacking an identifiable non-genetic aetiology, 73 out of 163 children (44.8 %) were found to have causative variants associated with SE including 66 monogenic mutations in 22 genes and 7 CNVs. Based on the American College of Medical Genetics and Genomics scoring system, the monogenic variants included 64 pathogenic/likely pathogenic and 2 uncertain significance variants. SCN1A gene mutations (n = 32) were the most common cause, followed by TSC2 (n = 5), CACNA1A (n = 5), SCN2A (n = 4), SCN9A (n = 2) and DEPDC5 (n = 2) gene mutations. Sixteen mutations were identified in single genes. Furthermore, 51 (77.3 %) monogenic mutations were de novo. Age at SE onset < 1 year (odds ratio [OR] = 2.70, 95 % confidence interval [CI]: 1.25–5.83, p = 0.012) and co-morbidity of intellectual disability (OR = 3.36, 95 %CI: 1.61–6.99, p = 0.001) were independently associated with pathogenic genetic variants. ConclusionThis study identified genetic aetiology in 44.8 % of patients with SE, which indicates a high burden of genetic aetiology among children with SE in China. Our findings highlight the importance for genetic testing of children with SE that lacks an identifiable non-genetic aetiology.

Timing of the Diagnosis of Autism in African American Children.

African American (AA) children affected by autism spectrum disorder (ASD) experience delays in diagnosis and obstacles to service access, as well as a disproportionate burden of intellectual disability (ID) as documented in surveillance data recently published by the US Centers for Disease Control and Prevention. Our objective in this study was to analyze data from the largest-available repository of diagnostic and phenotypic information on AA children with ASD, and to explore the wide variation in outcome within the cohort as a function of sociodemographic risk and specific obstacles to service access for the purpose of informing a national approach to resolution of these disparities. Parents of 584 AA children with autism consecutively enrolled in the Autism Genetic Resource Exchange across 4 US data collection sites completed event history calendar interviews of the diagnostic odysseys for their children with ASD. These data were examined in relation to developmental outcomes of the children with autism and their unaffected siblings. The average age of ASD diagnosis was 64.9 months (±49.6), on average 42.3 months (±45.1) after parents' first concerns about their children's development. The relationship between timing of diagnosis and ASD severity was complex, and ID comorbidity was not predicted in a straightforward manner by familial factors associated with cognitive variation in the general population. These findings document significant opportunity to expedite diagnosis, the need to further understand causes of ID comorbidity, and the necessity to identify effective approaches to the resolution of disparities in severity-of-outcome for AA children with autism.

Family adaptation among parents of children on the autism spectrum without a comorbid intellectual disability: A test of the Double ABCX model

BackgroundThis study examined family adaptation among parents of school age children with autism spectrum disorder (ASD) who do not have a comorbid diagnosis of intellectual disability (ID). Family adaptation was measured by parents’ perceived family quality of life and satisfaction with life. Associated factors were derived from the Double ABCX model of family adaptation (i.e. autism symptom severity, problem behaviours, pile-up life demands, social support, cognitive appraisals and coping strategies). In particular, we were interested in the potential association between positive contributions directly associated with this caregiving experience and outcomes. MethodParticipants (N = 104) were parents of school age children who had a diagnosis of ASD and no comorbid ID. Parents completed a battery of self-report questionnaires via online survey. ResultsAll variables within the model were associated with one or both of the outcomes, with the exception of problem focused coping. Social support, positive contributions and passive-avoidance coping remained significant unique predictors of both outcomes within multiple regression analyses. Passive avoidance coping was found to moderate the relationship between symptom severity and parents’ satisfaction with life. ConclusionsThe Double ABCX Model provides a useful framework in identifying risk and protective factors for parents. Support was provided for inclusion of both positive predictor and outcome variables, at the individual and family level. Proximal variables, such as maladaptive coping strategies, may explain associations between stressors and wellbeing. Methodological considerations and implications for clinical practice are discussed.

Differences Between Students With Comorbid Intellectual Disability and Autism Spectrum Disorder and Those With Intellectual Disability Alone in the Recognition of and Reaction to Emotions.

This study investigates whether students with intellectual disability (ID) alone differ from students with combined individual disability and autism spectrum disorder (ASD) in their recognition of emotions. The ability to recognise emotions does not mean that students automatically know how to react to these emotions. Differences in performance on recognition and reaction tasks are examined. Participants were 20 primary 6 students who had ID with ASD and 20 primary 6 students who had ID without ASD from four special schools. The testing and training materials were adapted from a local teaching package. The results showed that both groups exhibited similar performance patterns in recognition tasks. Students with comorbid ASD exhibited inferior performance in tasks requiring reactions to complex emotions.