Concurrent Intellectual Disability Research Articles

Risk of physical health comorbidities in autistic adults: clinical nested cross-sectional study.

Physical health conditions are more common in individuals with autism. Some, like epilepsy, have considerable evidence supporting their increased prevalence, but many diseases lack literature to make strong conclusions. To investigate the prevalence of physical health comorbidities in autism. We undertook a nested cross-sectional study, using a sample from the National Centre for Mental Health database. It included participants from England and Wales who reported a clinician-made diagnosis of autism (n = 813), and a control sample without autism or mental illness (n = 2781). Participants had provided a medical history at enrolment. Analysis was carried out by binomial logistic regressions controlling for age, gender, smoking status, and antipsychotic and mood stabiliser use. A subanalysis of individuals with concurrent intellectual disability (n = 86) used binomial logistic regression with the same control variables. Many physical health conditions were significantly more common in autism. Sixteen out of 28 conditions showed increased odds, with the highest odds ratios observed for liver disease, chronic obstructive pulmonary disease, kidney disease, osteoporosis and rheumatoid arthritis. A subanalysis demonstrated a similar pattern of physical health in individuals with autism with and without concurrent intellectual disability. Some conditions, including osteoporosis, hyperthyroidism, head injury and liver disease, had larger odds ratios in individuals with concurrent intellectual disability. Physical health conditions occur more commonly in individuals with autism, and certain conditions are further increased in those with concurrent intellectual disability. Our findings contribute to prior evidence, including novel associations, and suggest that people with autism are at greater risk of physical health problems throughout adulthood.

Phenotypic Spectrum of SETD1B-Related Disorder: Myoclonic Absence Seizures and Concurrent Intellectual Disability - Insights from Two Cases

Phenotypic Spectrum of SETD1B-Related Disorder: Myoclonic Absence Seizures and Concurrent Intellectual Disability - Insights from Two Cases

Subjective and objective sleep alterations in medication-naïve children and adolescents with autism spectrum disorder: a systematic review and meta-analysis.

This study aimed to summarize the evidence on sleep alterations in medication-naïve children and adolescents with autism spectrum disorder (ASD). We systematically searched PubMed/Medline, Embase and Web of Science databases from inception through March 22, 2021. This study was registered with PROSPERO (CRD42021243881). Any observational study was included that enrolled medication-naïve children and adolescents with ASD and compared objective (actigraphy and polysomnography) or subjective sleep parameters with typically developing (TD) counterparts. We extracted relevant data such as the study design and outcome measures. The methodological quality was assessed through the Newcastle-Ottawa Scale (NOS). A meta-analysis was carried out using the random-effects model by pooling effect sizes as Hedges' g. To assess publication bias, Egger's test and p-curve analysis were done. A priori planned meta-regression and subgroup analysis were also performed to identify potential moderators. Out of 4277 retrieved references, 16 studies were eligible with 981 ASD patients and 1220 TD individuals. The analysis of objective measures showed that medication-naïve ASD patients had significantly longer sleep latency (Hedges' g 0.59; 95% confidence interval [95% CI] 0.26 to 0.92), reduced sleep efficiency (Hedges' g -0.58; 95% CI -0.87 to -0.28), time in bed (Hedges' g -0.64; 95% CI -1.02 to -0.26) and total sleep time (Hedges' g -0.64; 95% CI -1.01 to -0.27). The analysis of subjective measures showed that they had more problems in daytime sleepiness (Hedges' g 0.48; 95% CI 0.26 to 0.71), sleep latency (Hedges' g 1.15; 95% CI 0.72 to 1.58), initiating and maintaining sleep (Hedges' g 0.86; 95% CI 0.39 to 1.33) and sleep hyperhidrosis (Hedges' g 0.48; 95% CI 0.29 to 0.66). Potential publication bias was detected for sleep latency, sleep period time and total sleep time measured by polysomnography. Some sleep alterations were moderated by age, sex and concurrent intellectual disability. The median NOS score was 8 (interquartile range 7.25-8.75). We found that medication-naïve children and adolescents with ASD presented significantly more subjective and objective sleep alterations compared to TD and identified possible moderators of these differences. Future research requires an analysis of how these sleep alterations are linked to core symptom severity and comorbid behavioural problems, which would provide an integrated therapeutic intervention for ASD. However, our results should be interpreted in light of the potential publication bias.

Molecular genetic analysis and growth hormone response in patients with syndromic short stature

BackgroundSyndromic short stature is a genetic and phenotypic heterogeneous disorder with multiple causes. This study aims to identify genetic causes in patients with syndromic short stature of unknown cause and evaluate the efficacy of the growth hormone response.MethodsTrio-whole-exome sequencing was applied to identify pathogenic gene mutations in seven patents with short stature, multiple malformations, and/or intellectual disability. Whole-genome low-coverage sequencing was also performed to identify copy number variants in three patients with concurrent intellectual disability. Recombinant human growth hormone was administered to improve height in patients with an identified cause of syndromic short stature.ResultsOf the seven patients, three pathogenic/likely pathogenic gene mutations, including one FGFR3 mutation (c.1620C>A p.N540K), one novel GNAS mutation (c.2288C>T p.A763V), and one novel TRPS1 mutation (c.2527_c.2528dupTA p.S843fsX72), were identified in three patients. No copy number variants were identified in the three patients with concurrent intellectual disability. The proband with an FGFR3 mutation, a female 4 and 3/12 years of age, was diagnosed with hypochondroplasia. Long-acting growth hormone improved her height from 85.8 cm [− 5.05 standard deviation (SD)] to 100.4 cm (− 4.02 SD), and her increased height SD score (SDS) was 1.03 after 25 months of treatment. The proband with a GNAS mutation, a female 12 and 9/12 years of age, was diagnosed with pseudohypoparathyroidism Ia. After 14 months of treatment with short-acting growth hormone, her height improved from 139.3 cm (− 2.69 SD) to 145.0 cm (− 2.36 SD), and her increased height SDS was 0.33.ConclusionsTrio-whole-exome sequencing was an important approach to confirm genetic disorders in patients with syndromic short stature of unknown etiology. Short-term growth hormone was effective in improving height in patients with hypochondroplasia and pseudohypoparathyroidism Ia.

The Relationship Between Developmental Coordination Disorder and Concurrent Deficits in Social Communication and Repetitive Behaviors Among Children with Autism Spectrum Disorder.

Children with Autism Spectrum Disorder (ASD), characterized by core deficits in social communication and restrictive behaviors, can exhibit concurrent motor incoordination and/or intellectual disability (ID). While pervasive delays in motor behavior are common, formal diagnosis of Development Coordination Disorder (DCD) is uncommon. It is not clear how DCD and ID impact core deficits in ASD. This study utilized the Simons Foundation SPARK cohort to describe the scope of motor incoordination among children with ASD and examine the interrelationships between DCD risk, ID, and ASD core deficits. 10,234 children with ASD, between the ages of 5 and 15 years, were included in the analysis. Parents completed online versions of the DCD Questionnaire (DCD-Q), Social Communication Questionnaire (SCQ) and Restrictive Behavior Scale (RBS-R). 85% of children with ASD had DCD-Q scores consistent with being at-risk for DCD, but only 14% reported a formal diagnosis. Children with ID exhibited significantly greater motor incoordination compared to children without ID (P < 0.001). Significantly, greater core deficits were identified in both children at-risk for DCD (P < 0.001) and with ID (P < 0.001). However, the effects of DCD risk were independent of ID and exhibited a medium effect size for SCQ (η2p = 0.063) and a small effect size for RBS-R (η2p = 0.04) scores. Collectively, study outcomes reinforce the pervasiveness of motor incoordination among children with ASD, both with and without concurrent ID, and provide further justification for the inclusion of motor behavior in the early intervention and prescription for children with ASD. LAY SUMMARY: This secondary data analysis of the Simons Foundation SPARK cohort found high rates (85%) of DCD risk among children with ASD. Deficits in motor coordination were greater among children with ASD with concurrent ID diagnoses. Meaningful differences in ASD core deficits (social communication and repetitive behaviors) were independently found in children at risk for DCD, both with and without ID. Autism Res 2021, 14: 804-816. © 2021 International Society for Autism Research and Wiley Periodicals LLC.

School outcomes of adolescents with cerebral palsy in Sweden.

AimTo study school outcomes of adolescents with cerebral palsy (CP) compared with a matched comparison group from the general population, and to observe to what extent sociodemographic and disability‐specific factors are associated with school outcomes.MethodThis was a register study of persons with CP in Sweden, born between 1990 and 1999, with a matched comparison group. Logistic regressions were used to estimate the associations between CP and disability‐specific factors and school outcomes (receiving final grades, grade scores, fulfilling the requirements for progressing to secondary school/university, and attending secondary school).ResultsChildren with CP had substantially lower school achievement compared with a general population sample. Much of the difference can be attributed to intellectual disability; however, CP remained strongly negatively associated with school outcomes. Ability to communicate in an effective manner explained most of the variation in children with CP, whereas motor function played a smaller role.InterpretationThe results suggest that school achievements might be improved if the communication barrier could be reduced, for example by ascertaining access to appropriate communication devices and by educators being aware that communicative difficulties do not necessarily imply intellectual disability. This might enhance the school experience and create an environment where children with CP can reach their full potential.What this study adds There are reduced educational outcomes associated with cerebral palsy.Negative outcomes are mainly driven by reduced communicative and intellectual ability.Gross motor function is associated with outcomes, but plays a smaller part.

Mortality and cause of death of Australians on the autism spectrum.

Focused investigations regarding mortality rates, risk factors, and cause of death in autistic populations remain scarce. The present study used large linked datasets spanning 2001-2015 to report the rates and risk factors for mortality and cause of death in individuals on the autism spectrum (n = 35,929 age range 5-64) with and without concurrent intellectual disability (ID) in New South Wales, Australia. Mortality rates for those on the autism spectrum were 2.06 times that of the general population. Concurrent ID, epilepsy, mental health conditions, and chronic physical health conditions were associated with a higher risk of death for those on the spectrum, whereas demographic variables such as gender and socioeconomic status were not. A differing profile of top causes of death was found for autistic individuals relative to the general population, with "nervous system and sense disorders" and "injury and poisoning" being the top-ranked causes for those on the spectrum. The findings alert the need for health promotion and management of concurrent physical and mental health conditions for those on the autism spectrum. There is also a need for better identification, diagnosis, and documentation of older adults on the autism spectrum. Autism Research 2019, 12: 806-815. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Rates of death are higher for autistic individuals compared to the general population. There is higher risk of death for autistic individuals who have additional mental and physical health conditions. The leading causes of death for autistic individuals with and without ID are "nervous system and sense disorders", which includes epilepsy and "injury and poisoning", respectively. To minimize risk of death, it is important to manage the mental and physical health individuals on the autism spectrum and to better understand the circumstances surrounding preventable deaths for this population.

Measurement invariance of the child behavior checklist in children with autism spectrum disorder with and without intellectual disability: Follow-up study

BackgroundChildren with autism spectrum disorder (ASD) have high rates of co-occurring emotional and behavioral problems. The Child Behavior Checklist (CBCL) has been used to assess emotional and behavioral functioning in many large-scale studies of children with ASD. However, the previously established factor model may account for symptom patterns differently in children with concurrent intellectual disability (ID). MethodIn a sample of children with ASD, a multi-group nested confirmatory factor analysis was used to compare participant groups with and without concurrent ID on each of the subscales of the CBCL. ResultsIn almost all of the subscales, children with ASD and concurrent ID exhibit different baseline levels, measurement error, and overall predictive ability on the behavioral and emotional problems of the CBCL than children with ASD alone. In younger children with ASD, configural invariance was present in Emotional Reactivity, Anxious/Depressed, and Somatic Complaints, metric invariance was present in Sleep Problems, residual invariance was present in Withdrawn Behavior, and structural invariance was present in Attention Problems and Aggressive Behavior. In older children with ASD, configural invariance was present in Anxious/Depressed, Somatic Complaints, Social Problems, Thought Problems, Attention Problems, and Rule-Breaking; whereas, metric invariance was present in Withdrawn/Depressed and Aggressive Behavior. ConclusionsIn conclusion, when dealing with intellectually heterogeneous ASD samples, the item-level data of the CBCL should be used, rather than broad subscale-level data. These findings underscore a continued need for development and validation of measures that are appropriate for use in individuals with ASD across ages and intellectual functioning.

Autism Spectrum Disorder, Intellectual Disability, and Delayed Walking.

Delayed onset of independent walking is common in intellectual disability (ID). However, in children with autism spectrum disorders (ASD), delayed walking has not been reported as frequently, despite the high rate of concurrent ID in ASD. This study directly examined the relationship between delayed walking and severity of ID in children with ASD versus other non-ASD diagnoses. Participants were 1185 individuals (ASD, n = 903; non-ASD, n = 282) who received an assessment at age 4 to 12 years (6.89 ± 2.25) that yielded an estimate of nonverbal IQ (NVIQ) and retrospectively reported age of walking from the Autism Diagnostic Interview-Revised. The relationship between diagnostic group and delayed walking (defined as occurring at ≥16 months) as a function of NVIQ was explored using the Cox proportional hazards model. Children with ASD were less likely to exhibit delayed walking than those with non-ASD diagnoses, and this difference was larger at lower levels of NVIQ (P = .002). For example, rates of delayed walking for ASD and non-ASD were 13% and 19%, respectively, in those with NVIQ >85 but 31% and 60% in children with NVIQ <70. Although lower IQ scores were associated with increased rates of late walking in both ASD and non-ASD groups, children with low IQ were more likely to show delayed walking in the absence of ASD. This raises the possibility of separate etiological pathways to ID in children with and without ASD.

Sleep differences among children with autism spectrum disorders and typically developing peers: a meta-analysis.

Sleep problems such as difficulties in sleep initiation, nighttime awakening, and shortened sleep time are often subjectively reported in children with autism spectrum disorder (ASD). However, results of objective studies have been mixed. Our goal was to evaluate the existing data from objective measures using a systematic approach to identify and describe the differences in sleep parameters by comparing total sleep time (TST), sleep latency (SL), and sleep efficiency (SE) in children with ASD with those of typically developing (TD) peers. Studies that used objective measures such as actigraphy or polysomnography (PSG) to describe the sleep parameters of TST, SL, and SE in children with ASD compared with children with TD were identified. A meta-analysis was performed for the 10 studies that met inclusion criteria with evaluation of differences in means using random effects models. A total of 343 children with ASD and 221 children with TD were included. Assessments for sources of heterogeneity and publication bias were undertaken. TST for children with ASD was on average 32.8 minutes less per day (95% confidence interval [CI]: 16.6-49.0 minutes) than their TD peers. Average SL was 10.9 minutes longer (95% CI: 6.7-15.0 minutes), and average SE was 1.9% less (95% CI: 0.7%-3.1%) than their TD peers. Notable heterogeneity was found within studies for TST, and mild heterogeneity was found for SE. Concurrent intellectual disability was a moderator of TST. Children with ASD and normal intelligence had a small and nonsignificant decrease in TST as compared with TD peers, whereas those with ASD and intellectual disability (ID) had a significant decrease in TST as compared with TD peers. The magnitude of the difference in mean SL and SE increased as compared with TD peers as age increased. Studies that used PSG and those that did not include children on medications were more likely to report mean decreases in SE. Children with ASD have small but measurable objective differences in their sleep parameters that are consistent with subjective reporting. Children with ASD have shorter TST, longer SL periods, and decreased SE as compared with TD peers. Concurrent ID, medication use, method of data collection, and age of subjects significantly moderated these results. The decrease in TST in children with ASD and normal intelligence was not significant as compared with TD peers, suggesting that ID may help explain the shortened TST in children with ASD.

Implementation of the care programme approach across health and social services for dual diagnosis clients

Care for clients with mental health problems and concurrent intellectual disability (dual diagnosis) is currently expected to be provided through the care programme approach (CPA), an approach to provide care to people with mental health problems in secondary mental health services. When CPA was originally introduced into UK mental health services in the 1990s, its implementation was slow and problematic, being hampered in part by problems occurring at a strategic level as health and social service organizations attempted to integrate complex systems. This article reports on a study of a more recent attempt to implement CPA for dual diagnosis clients in one mental health foundation trust, aiming to gauge progress and identify factors at the strategic level that were helping or hindering progress this time round. The study took place in a mental health National Health Service (NHS) Foundation Trust in a large English city, which was implementing a joint mental health and intellectual disability CPA policy across five of its constituent boroughs. Semi-structured interviews with key informants at Trust and borough levels focused on the Trust's overall strategy for implementing CPA and on how it was being put into practice at the front line. Documentary analysis and the administration of the Partnership Assessment Tool were also undertaken. Data were analysed using a framework approach. Progress in implementing CPA varied but overall was extremely limited in all the boroughs. The study identified six key contextual challenges that significantly hindered the implementation progress. These included organizational complexity; arrangements for governance and accountability; competing priorities; financial constraints; high staff turnover and complex information and IT systems. The only element of policy linked to CPA that had been widely taken up was the Greenlight Framework and Audit Toolkit (GLTK). The fact that the toolkit had targets and penalties associated with its implementation appeared to have given it priority. None of the contextual challenges identified in this study were specifically related to CPA as a policy or to the needs and circumstances of dual diagnosis clients. Nevertheless, they inhibited the types of organizational change and partnership working that implementing CPA for a client group of this kind required. Unless these more generic factors are acknowledged and addressed when introducing policies such as CPA, the chances of effective implementation will inevitably be compromised.

Risk for cognitive deficit in a population-based sample of U.S. children with autism spectrum disorders: Variation by perinatal health factors

Background From 30% to 60% of children with an autism spectrum disorder (ASD) have an IQ measure that falls in the intellectual disability (ID) range. It is not well studied whether, for children within this ASD subgroup, there is variation in the risk for low IQ based on a child's perinatal risk factors. Objective/Hypotheses We assessed whether preterm delivery and term small-for-gestational-age (tSGA) were associated with various measures of cognitive deficit among children with ASDs. Methods A sample of 1129 singleton children born in 1994 and identified through school and health record review as having an ASD by age 8 years were selected from a U.S. population-based surveillance network. Mean IQ and dichotomous IQ outcomes indicating various levels of ID were examined according to whether a child was preterm (<37 weeks' gestation) or tSGA (term delivery and birth weight <10th percentile for gestational age of a U.S. referent). Results for the total sample and within race-ethnicity/maternal education strata were adjusted for child sex and ASD subtype classification. Results Mean IQ was significantly ( p < .05) lower in children delivered preterm (69.5) than term (74.5) and tSGA (69.3) than term appropriate-for gestational age (75.3). In stratified analyses, the preterm-IQ association was significant only among non-Hispanic white (NHW) children with maternal education at birth of high school or less; adjusted mean IQ was 8 points lower among those delivered preterm (65.4) than term (73.8). Term-SGA was associated with a significant 8-point deficit in adjusted mean IQ (75.5 vs. 83.8) in NHW children with maternal education greater than high school and a 6-point deficit that approached significance (68.4 vs. 74.5, p = 0.10) in NHW children with maternal education of high school or less. Non-Hispanic black children in both maternal education groups had significantly lower mean IQs than NHW children with little variation by preterm or tSGA. Conclusions In children with ASDs, the risk for concurrent ID or IQ deficit is associated with both preterm delivery and tSGA; these associations may vary by race-ethnicity and SES. Further studies of ASD-ID co-occurrence and the effectiveness of intervention strategies should consider both perinatal and sociodemographic factors.

Epilepsy and behaviour.

Whilst behaviour disorder is so commonly a challenge to physicians in the field of epilepsy, comparatively little is known of its exact association with the epilepsies. This review highlights advances in knowledge, focussing on a broad definition of behaviour to include psychiatric pathology. Differential rates of disturbance appear to be associated with concurrent intellectual disability. Advances in imaging, in particular, suggest that structural brain changes may underlie the increased susceptibility in some epilepsy patients. Clinical practice should recognize that, with the possible exception of seizure freedom in postictal behavioural disturbance, epilepsy treatment alone is unlikely to treat the associated psychological and behavioural disturbance. Research continues to focus on assessing the correlates of epilepsy and psychopathology whilst the association between epilepsy and behaviour disorder in people with an intellectual disability remains largely unknown.

Epilepsy and behaviour

Purpose of review Whilst behaviour disorder is so commonly a challenge to physicians in the field of epilepsy, comparatively little is known of its exact association with the epilepsies. This review highlights advances in knowledge, focussing on a broad definition of behaviour to include psychiatric pathology. Recent findings Differential rates of disturbance appear to be associated with concurrent intellectual disability. Advances in imaging, in particular, suggest that structural brain changes may underlie the increased susceptibility in some epilepsy patients. Summary Clinical practice should recognize that, with the possible exception of seizure freedom in postictal behavioural disturbance, epilepsy treatment alone is unlikely to treat the associated psychological and behavioural disturbance. Research continues to focus on assessing the correlates of epilepsy and psychopathology whilst the association between epilepsy and behaviour disorder in people with an intellectual disability remains largely unknown.