Assessment of emotions and behaviour by the Developmental Behaviour Checklist in young people with neurodevelopmental CNVs

Background A number of genomic conditions caused by copy number variants (CNVs) are associated with a high risk of neurodevelopmental and psychiatric disorders (ND-CNVs). Although these patients also tend to have cognitive impairments, few studies have investigated the range of emotion and behaviour problems in young people with ND-CNVs using measures that are suitable for those with learning difficulties. Methods A total of 322 young people with 13 ND-CNVs across eight loci (mean age: 9.79 years, range: 6.02–17.91, 66.5% male) took part in the study. Primary carers completed the Developmental Behaviour Checklist (DBC). Results Of the total, 69% of individuals with an ND-CNV screened positive for clinically significant difficulties. Young people from families with higher incomes (OR = 0.71, CI = 0.55–0.91, p = .008) were less likely to screen positive. The rate of difficulties differed depending on ND-CNV genotype (χ2 = 39.99, p < 0.001), with the lowest rate in young people with 22q11.2 deletion (45.7%) and the highest in those with 1q21.1 deletion (93.8%). Specific patterns of strengths and weaknesses were found for different ND-CNV genotypes. However, ND-CNV genotype explained no more than 9–16% of the variance, depending on DBC subdomain. Conclusions Emotion and behaviour problems are common in young people with ND-CNVs. The ND-CNV specific patterns we find can provide a basis for more tailored support. More research is needed to better understand the variation in emotion and behaviour problems not accounted for by genotype.

Prevalence estimates of mental health problems in children and adolescents with intellectual disability: A systematic review and meta-analysis

Background: Children and adolescents with intellectual disability are at risk of developing psychiatric symptoms and disorders; yet, the estimates reported in the literature have been inconsistent, presenting a potential barrier for service planning and delivery. Sources of variability could arise from differences in measurement instruments as well as subgroup membership by severity of intellectual disability, gender and age. This systematic review aimed to address these gaps. Method: MEDLINE and PsycINFO databases were searched from inception to 2018 and selected studies were reviewed. Studies were included if they reported point prevalence estimates of mental health symptomology or diagnoses in a general population of 6- to 21-year-old individuals with intellectual disability. The Joanna Briggs Institute Prevalence Critical Appraisal Checklist was applied to eligible papers to appraise their scientific strength. Pooled prevalence for mental health symptomology was determined using a random-effects meta-analysis. Results: A total of 19 studies were included, including 6151 children and adolescents. The pooled prevalence estimate captured by the Developmental Behaviour Checklist was 38% (95% confidence interval = [31, 46]), contrasting with 49% (95% confidence interval = [46, 51]) captured by the Child Behaviour Checklist; both rates were higher than a non-intellectual disability population. Severity of intellectual disability did not significantly influence the Developmental Behaviour Checklist risks. Insufficient data were available to conduct statistical analyses on the effects of age, gender and socioeconomic status. Of diagnosed psychiatric disorders, attention deficit/hyperactivity disorder (30%), conduct disorder (3–21%) and anxiety disorders (7–34%) were the most prevalent conditions. Conclusion: This review consists of the largest sample hitherto evaluated. In the intellectual disability population, mental health comorbidities could be better detected by a symptom phenotype than a psychiatric diagnostic phenotype. Crucially, future research needs to address the effect of measurement validity in the intellectual disability population. Estimated prevalence rates were high compared to the general population, indicating the importance of systematic screening, case detection and appropriate management.

Emotional and behavioural phenotypes in young people with neurodevelopmental CNVs

BackgroundA number of disorders caused by copy number variants (CNVs) are associated with a high risk of neurodevelopmental and psychiatric disorders and cognitive impairments (ND-CNVs). Few studies of ND-CNVs have investigated the emotional and behavioural problems that are important outcomes in young people with developmental and intellectual disabilities using appropriate measures.Methods322 young people with 13 ND-CNVs across eight loci (mean age:9.79 years, range:6.02-17.91, 66.5% male) took part in the study. Primary carers completed the Developmental Behaviour Checklist (DBC).ResultsSixty-seven percent of individuals with an ND-CNV screened positive for clinically significant difficulties. Young people from families with higher incomes (OR=0.71, CI=0.55 – 0.92, p=.009) were less likely to screen positive. Young people born after prolonged labour (OR=2.87, CI=1.18-8.13, p=.030) were more likely to screen positive. The rate of difficulties differed depending on ND-CNV genotype (Deviance=25.83, p=.011), with the lowest rate in 22q11.2 deletion (46%) and the highest in 1q21.1 deletion (87.5%). Individuals with inherited ND-CNVs had greater difficulties (F=6.54, df=1, p=.012, ηp2=.050), including higher self-absorbed (F=5.01, df=1, p=.027, ηp2=.039) and communication disturbance scores (F=9.13, df=1, p=.003, ηp2=.068). Specific patterns of strengths and weaknesses were found for different ND-CNV genotypes. However, ND-CNV genotype explained no more than 7-16% of variance, depending on subdomain.ConclusionsBehavioural and emotional problems are common in young people with ND-CNVs. The ND-CNV specific patterns we find can provide a basis for more tailored support. More research is needed to better understand the variation in behavioural and emotional problems not accounted for by genotype.