scholarly journals Information and genetic counselling for psychiatric risks in children with rare disorders

2019 ◽  
Author(s):  
Andrew Cuthbert ◽  
Aimee Challenger ◽  
Jeremy Hall ◽  
Marianne BM van den Bree
Keyword(s):  
Mental Health ◽  
Intellectual Disability ◽  
Support Groups ◽  
Genetic Counselling ◽  
Odds Ratio ◽  
Developmental Disorders ◽  
Best Practice ◽  
Genetic Diagnosis ◽  
General Medicine ◽  
Genomic Disorders

AbstractBackground:The diagnosis of developmental disorders is being transformed by advances in whole genome technologies. However, continuing uncertainties about the individual risks and potential severity of psychiatric impacts attributed to causal genomic variants limits the availability of comprehensive family-oriented information. In addition, there is insufficient evidence about how the parents of children with developmental disorders comprehend the facts and implications of their diagnosis through genetic counselling, nor how they gather developmental and mental health information to guide their understanding.Methods:Parents of children (aged 0–17 years) referred to paediatric genetics services completed an anonymous online 46-item survey about: (i) the experience of attending services to receive their child’s genetic diagnosis, and (ii) the availability, quality and helpfulness of information about psychiatric and neurodevelopmental conditions associated with genomic disorders.Findings:Two-hundred and eighty-six families (199 UK and 87 USA) completed the survey. One-in-three UK and one-in-five US respondents were dissatisfied with how their child’s genetic diagnosis was communicated. Satisfaction was predicted by face-to-face communication (odds ratio 2·91 [95% CI 1·43–5·94]; p=0·003); results being presented by genetics specialists (2·97 [1·41–6·26]; p=0·004); receiving clear explanations (5·14 [2·58– 10·26]; p<0·001); receiving support (2·99 [1·21–7·36], p=0·017); and male gender of the tested child (2·56 [1·28–5·14]; p=0·008). Compared to health-related information on developmental delay or intellectual disability, parents were more likely to obtain information about psychiatric manifestations from non-professional lay sources than from clinical specialists (p<0·001). This was particularly evident for families in the UK compared to the USA (p<0·001). Parents considered information from rare disorder support groups to be more helpful than from genetics specialists (odds ratio 11·0 [95% CI 5·08–86·75]; p<0·001), or paediatricians (11·0 [1·42–85·20]; p=0·006), or internet sites (15·5 [3·71–64·77]; p<0·001), which in turn proved more helpful than information provided by geneticists (2·5 [1·44–4·31]; p=0·001).Interpretation:Psychiatric comorbidity is a common feature of rare genomic disorders, but the paucity of suitable information available from clinical specialists suggests families are not optimally informed about these challenges. Wider implementation of genomic testing in general medicine should include adequate training in genetic counselling to ensure best practice in communicating and explaining complex test results supported by comprehensive, family-oriented information.Funding:The Waterloo Foundation: Changing Minds Programme (506296); The Medical Research Council (MRC) Research Grant: Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (MR/N022572/1).

scholarly journals Information and genetic counselling for psychiatric risks in children with rare genomic disorders

2019 ◽  
Author(s):  
Andrew Cuthbert ◽  
Aimee Challenger ◽  
Jeremy Hall ◽  
Marianne BM van den Bree
Keyword(s):  
Genetic Counselling ◽  
Online Survey ◽  
Genomic Medicine ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Full Spectrum ◽  
Face To Face ◽  
Professional Information ◽  
Genomic Disorders ◽  
Psychiatric Manifestations

AbstractPurposeGenomic medicine has transformed the diagnosis of neurodevelopmental disorders. Evidence of increased psychiatric comorbidity associated with genomic copy number and single nucleotide variants (CNV and SNV) may not be fully considered when providing genetic counselling. We explored parents’ experiences of genetics services and how they obtained information concerning psychiatric manifestations.MethodsParents of children diagnosed with genomic variants completed an online survey exploring, (i) how they experienced the genetic diagnosis, and (ii) how they acquired information about psychiatric, developmental and physical manifestations.ResultsTwo-hundred and 86 respondents completed the survey. Thirty percent were unsatisfied with receiving genetic diagnoses. Satisfaction was predicted if communication was by geneticists (p = 0.004); provided face-to-face (p = 0.003); clearly explained (p < 0.001); and accompanied by support (p = 0.017). Parents obtained psychiatric information from non-professional sources more often than developmental (ϕ 0.26, p < 0.001) and physical manifestations (ϕ 0.21, p = 0.003), which mostly came from health professionals. Information from support organisations was more helpful than from geneticists (odds ratio [OR] 21.0, 95% CI 5.1 – 86.8, p < 0.001); paediatricians (OR 11.0, 1.4 – 85.2, p = 0.004); and internet sites (OR 15.5, 3.7 – 64.8, p < 0.001).ConclusionA paucity of professional information about psychiatric risks after genetic diagnosis may impede early diagnosis and intervention for children with high genotypic risks. Planned integration of genomic testing into mainstream services should include genetic counselling training to address the full spectrum of developmental, physical and psychiatric manifestations and timely provision of high-quality information.

scholarly journals Health status of Medicare-enrolled autistic older adults with and without co-occurring intellectual disability: An analysis of inpatient and institutional outpatient medical claims

Autism ◽  
2020 ◽  
pp. 136236132095510
Author(s):  
Daniel Gilmore ◽  
Lauren Harris ◽  
Anne Longo ◽  
Brittany N Hand
Keyword(s):  
Mental Health ◽  
Older Adults ◽  
Intellectual Disability ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Renal Dialysis ◽  
Health Centers ◽  
Outpatient Rehabilitation ◽  
Lower Odds ◽  
Healthcare Needs

Little is known about the extent to which the healthcare needs of autistic older adults with intellectual disability differ from autistic older adults without intellectual disability. We conducted a cross-sectional retrospective cohort study of Medicare claims data from 2016 to 2017 to compare the prevalence of physical and mental health conditions among autistic older adults (age 65+ years) with intellectual disability ( N = 2054) to autistic older adults without intellectual disability ( N = 2631). Medicare claims data consisted of records from inpatient hospitalizations and institutional outpatient visits (i.e. visits to hospital outpatient departments, rural health clinics, renal dialysis facilities, outpatient rehabilitation facilities, Federally Qualified Health Centers, and community mental health centers). Examination of the largest between-group differences revealed that autistic older adults with intellectual disability had 350% greater odds of epilepsy (odds ratio = 4.5, 95% confidence interval = 3.9–5.2), 170% greater odds of osteoporosis (odds ratio = 2.7, 95% confidence interval = 2.3–3.2), and 100% greater odds of gastrointestinal conditions (odds ratio = 2.0, 95% confidence interval = 1.8–2.2) but 80% lower odds of attention deficit disorders (odds ratio = 0.2, 95% confidence interval = 0.1–0.3), 70% lower odds of substance use disorders (odds ratio = 0.3, 95% confidence interval = 0.2–0.4), and 60% lower odds of suicidal ideation or intentional self-injury (odds ratio = 0.4, 95% confidence interval = 0.3–0.6). These findings highlight the importance of developing tailored health management strategies for the autistic older adult population as a function of intellectual disability status. Lay abstract Little is known about the extent to which the healthcare needs of autistic older adults with intellectual disability differ from autistic older adults without intellectual disability. Our study is the first, to our knowledge, to use US national data to compare physical and mental health conditions among autistic older adults with and without intellectual disability. The data analyzed in this study consisted of records from inpatient hospitalizations as well as “institutional outpatient” healthcare visits, which include visits to hospital outpatient departments, rural health clinics, renal dialysis facilities, outpatient rehabilitation facilities, Federally Qualified Health Centers, and community mental health centers. Autistic older adults with intellectual disability were significantly more likely to have thyroid disorders, epilepsy, respiratory infections, gastrointestinal conditions, osteoporosis, cognitive disorders, and schizophrenia/psychotic disorders. In contrast, autistic older adults without intellectual disability were significantly more likely to have obesity, diabetes, high blood pressure, cerebrovascular disease, chronic obstructive pulmonary disease, arthritis, back conditions, attention deficit disorders, substance use disorders, and suicidal ideation or intentional self-injury. These findings highlight the importance of developing distinct, tailored health management strategies for the autistic older adults with and without intellectual disability.

scholarly journals A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence

2022 ◽  
Author(s):  
Hamish Scott ◽  
Alicia Byrne ◽  
Peer Arts ◽  
Thuong Ha ◽  
Karin Kassahn ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Developmental Disorders ◽  
Perinatal Death ◽  
Genetic Diagnosis ◽  
Clinical Importance ◽  
Recurrence Risk ◽  
In Utero ◽  
Disease Genes ◽  
Genomic Disorders

Abstract Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provided a definite or candidate genetic diagnosis in 105 families. From this understudied cohort, half of the (candidate) diagnoses were phenotype expansions or novel disease genes, revealing previously unknown in-utero presentations of existing developmental disorders, and genomic disorders that are likely incompatible with life. Among the definite diagnoses, 43% were recessively or dominantly inherited, posing a 25% or 50% recurrence risk for future pregnancies. Ten families used their diagnosis for preimplantation or prenatal diagnosis of 12 pregnancies, facilitating the delivery of ten healthy newborns and management of two affected pregnancies. We emphasize the clinical importance of genomic investigations of perinatal death, with short turn-around times, enabling accurate counselling and options for families to prevent recurrence.

scholarly journals Oxford Textbook of the Psychiatry of Intellectual Disability

2020 ◽  
Keyword(s):  
Mental Health ◽  
Intellectual Disability ◽  
Developmental Disorders ◽  
Mental Health Problems ◽  
Evidence Base ◽  
Health Problems ◽  
Multiple Choice Questions ◽  
Language Therapy ◽  
Trainee Doctor ◽  
Single Response

Intellectual Disability (ID), a lifelong condition characterized by an impairment of intellectual functioning and deficits in adaptive skills is part of a spectrum of developmental disorders which also includes other conditions like autism and ADHD. While psychiatric problems are three to four times more common in those with ID, diagnosing it can be fraught with difficulties due to associated communication problems, atypical presentations, overlap with physical conditions, and experience of marginalization and abuse. In addition, treatment approaches may be different and the potential for treatment-related side effects greater. With a range of international experts authoring its chapters and providing the up-to-date evidence base in assessment, diagnosis, and treatment of mental health problems in people with ID, this book will be useful not just for the trainee doctor in psychiatry, but also for those in allied professions like general practice, nursing, psychology, speech and language therapy, social work, and occupational therapy as well as family members and carers and all those involved in any way with organizing or delivering care and treatment for people with intellectual disability and mental health problems. Throughout, the book addresses issues that are of relevance to those on the frontline and hence most chapters offer examples of clinical issues that come up in day to day practice. There are also a number of single response multiple choice questions that will serve as an aid to learning.

scholarly journals Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

2020 ◽  
pp. 1-8 ◽  
Author(s):  
Kate Baker ◽  
Rory T. Devine ◽  
Elise Ng-Cordell ◽  
F. Lucy Raymond ◽  
Claire Hughes ◽  
...  
Keyword(s):  
Mental Health ◽  
Intellectual Disability ◽  
Chromosomal Rearrangements ◽  
Copy Number Variants ◽  
Genetic Diagnosis ◽  
Well Being ◽  
Parental Distress ◽  
Single Nucleotide Variants ◽  
Behavioural Difficulties ◽  
The Uk

Background Intellectual disability has a complex effect on the well-being of affected individuals and their families. Previous research has identified multiple risk and protective factors for parental mental health, including socioeconomic circumstances and child behaviour. Aims This study explored whether genetic cause of childhood intellectual disability contributes to parental well-being. Method Children from across the UK with intellectual disability due to diverse genetic causes were recruited to the IMAGINE-ID study. Primary carers completed the Development and Well-being Assessment, including a measure of parental distress (Everyday Feeling Questionnaire). Genetic diagnoses were broadly categorised into aneuploidy, chromosomal rearrangements, copy number variants (CNVs) and single nucleotide variants. Results Compared with the UK general population, IMAGINE-ID parents (n = 888) reported significantly elevated emotional distress (Cohen's d = 0.546). Within-sample variation was related to recent life events and the perceived impact of children's difficulties. Impact was predicted by child age, physical disability, autistic characteristics and other behavioural difficulties. Genetic diagnosis also predicted impact, indirectly influencing parental well-being. Specifically, CNVs were associated with higher impact, not explained by CNV inheritance, neighbourhood deprivation or family structure. Conclusions The mental health of parents caring for a child with intellectual disability is influenced by child and family factors, converging on parental appraisal of impact. We found that genetic aetiologies, broadly categorised, also influence impact and thereby family risks. Recognition of these risk factors could improve access to support for parents, reduce their long-term mental health needs and improve well-being of individuals with intellectual disability.

Best Practice Principles When Working With Individuals With Intellectual Disability and Comorbid Mental Health Concerns

2019 ◽  
Vol 30 (4) ◽  
pp. 560-571 ◽  
Author(s):  
Joyce Man ◽  
Maria Kangas
Keyword(s):  
Mental Health ◽  
Intellectual Disability ◽  
Intellectual Disabilities ◽  
Best Practice ◽  
Evidence Based Practice ◽  
Health Assessment ◽  
Evidence Base ◽  
Evidence Based ◽  
Mental Health Assessment ◽  
Complex Process

Working with individuals with dual disabilities can be a complex process in the presence of limited evidence base to guide clinical practice. The aims of this qualitative study were to investigate perceptions of best practices of Australian psychologists who work with this specialist population. Thirty-eight Australian psychologists working in the intellectual disability field participated in eight semistructured focus groups. Perceptions of evidence-based practice for individuals with intellectual disabilities and in relation to mental health assessment were explored. Psychologists demonstrated resourcefulness in adapting to limits in available evidence-based practice and in modifying mainstream practice to suit the needs of individuals with dual disabilities. Findings suggest the necessity of practice-based evidence in contributing to the evidence base, and person-centered approaches in relation to best practice for people with intellectual disabilities. Implications for strengthening psychologists’ clinical competency and bridging the research and practice gap are discussed.

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