RSS 1.0General Neurodevelopmental Disorders
Recent Submissions
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Phelan-McDermid syndrome, bipolar disorder and treatment with lithiumBackground Phelan-McDermid syndrome is caused by a deletion at chromosome 22q13.3, and results in a phenotype characterised by intellectual disability, features of autism, physical and mental health conditions. It is becoming increasingly recognised that bipolar disorder represents part of this phenotype. Materials and methods This case study describes 2 patients with Phelan-McDermid syndrome presenting with bipolar mania at inpatient unit for adults with intellectual disability. Both patients presented with severe disturbance of their behaviour, at times exhibiting aggression, disinhibition and hypersexuality. Results Despite treatment with a number of atypical antipsychotics and anticonvulsant mood stabilising agents, both patients showed the greatest improvement when started on lithium, and were successfully treated with this medication. Conclusions This adds further support to the growing evidence of bipolar disorder contributing to the phenotype of Phelan-McDermid syndrome, and clinicians should have a low threshold for considering the use of lithium in these patients.
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Under representation of people with epilepsy and intellectual disability in researchPurpose One quarter of people with epilepsy have an intellectual disability (ID) and one fifth of people with an ID have epilepsy. Both conditions are associated with higher levels of morbidity, stigma and premature mortality. There have been calls for action to promote more research in this group. We examined if this group are represented adequately in current research. Methods The proportion of research output in epilepsy conferences and publications relevant to ID and the proportion in ID conferences and publications on epilepsy for 2015–2016 were identified. As the percentage of children in the population with epilepsy is 17%, research output of this group was compared with the ID group. Recognised material was classified based on whether it applied to general epilepsy/ID research, children with epilepsy or people with epilepsy and ID. Data was analysed to determine the proportion of presented research specifically identifying people with epilepsy and ID. Results Fewer than 2% of presentations at epilepsy conferences specifically related to the ID and epilepsy group compared to 15% relating to children with epilepsy. Similarly only 1.4% of the research presented at major ID conferences related to those with people with epilepsy and ID. About 5% of published research in the field of epilepsy related to those with ID as compared with 24% for children with epilepsy. Twelve percent of published research in ID specifically identified epilepsy. Conclusion Publications and conference presentations, on the population with epilepsy and comorbid ID is under-represented. Increased research in this area might assist in improving the quality of care for this relatively neglected group.
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QI 120 Improving Attendance in the CPIP (Cerebral Palsy Integrated Pathway) ClinicAim: To reduce the mean DNA (Did Not Attend) / WNB (Was Not Brought) rate at the CPIP Clinic from 26.8% to 10% by July 2022. The CPIP clinic experiences several missed appointments each week. These unused clinic slots are very costly due to multidisciplinary staff involvement. QI tools were used to monitor non-attendance, review processes and develop change ideas. PDSA cycles were used to test change ideas including the introduction of automated text messages and the streamlining of admin processes. Tools Used: Driver Diagram - https://aqua.nhs.uk/wp-content/uploads/2023/07/qsir-driver-diagrams.pdf; PDSA Cycles - https://aqua.nhs.uk/wp-content/uploads/2023/07/qsir-pdsa-cycles-model-for-improvement.pdf; SPC Charts - www.england.nhs.uk/statistical-process-control-tool/; Process Mapping - https://aqua.nhs.uk/wp-content/uploads/2023/07/qsir-mapping-the-process.pdf. Project Impact: The team reduced the DNA/WNB rate from 26.8% to 10.6% and implemented a cancellation process. They now have benchmarking data to assist them with the next steps of the project. An unintended consequence of the project was an increase in the cancellation rate from 6.7% to 17.6%. This has led to a continuation of the project with a new project aim: To improve the mean attendance rate in the CPIP clinic from 71% to 90% by July 2023.
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QI 149 Increasing Referrals to the Children’s Cerebral Palsy Strengthening GroupAim: Increase the referral rate for the Cerebral Palsy strengthening group from 0% in March 2022 to 80% by September 2023. A virtual group was set up in 2021 for children and young people with Cerebral Palsy. As Covid restrictions reduced there was a noted decrease in referrals and an increase in requests from parents to move the group from virtual to face to face. The project was initially set up in March 2022 to scope the barriers to referral and attendance and improve the referral rate into the group. Increasing referrals would mean that sufficient outcome measures could be collected to evaluate clinical effectiveness of treatment. Tools Used: PDSA Cycles - https://aqua.nhs.uk/wp-content/uploads/2023/07/qsir-pdsa-cycles-model-for-improvement.pdf; Driver Diagram - https://aqua.nhs.uk/wp-content/uploads/2023/07/qsir-driver-diagrams.pdf; Sustainability Tool - https://aqua.nhs.uk/wp-content/uploads/2023/07/qsir-sustainability-model.pdf. Project Impact: The referral rate increased to 81% of the full capacity for the group. Seeing patients in a group rather than 1:1 has: Saved 18 hours of staff time per cohort (108 hours of clinical time saved over the last year). £373.74 has been saved per cohort. This equates to savings of £2242 over the last year and up to £2616 next year. Attendance at the groups has enabled us to collect and compare data through outcome measures. These have shown large clinical benefits which have been maintained when 1 year post group outcome measures have been repeated. Average improvement in 6 minute walk test (6MWT) scores for GMFCS 1 and 2 patients show a statistically significant improvement. The group has progressed to running face to face and since re-starting in January 2023 has successfully run with patients within each group and referral rates above 50% maintained in each cohort. All patient feedback has been positive. The average improvement in strength (MRC) showed increase or maintenance in all areas for each patient.
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Brief Report: Repetitive Behaviour Profiles in Williams syndrome: Cross Syndrome Comparisons with Prader–Willi and Down syndromesThis study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader–Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader–Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.
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Psychiatry and neurodevelopmental disorders: experts by experience, clinical care and researchPeople with neurodevelopmental disorders often present with challenging behaviours and psychiatric illnesses. Diagnosis and treatment require patients, families and healthcare professionals to work closely together in partnership, acknowledging their respective areas of expertise. Good treatment outcomes should also be underpinned by robust research evidence. Key research priorities are highlighted.
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Future clinical priorities in neurodevelopmental disorders: an international perspectiveIn this reflection we summarise the various obstacles to accessing healthcare encountered by people with neurodevelopmental disorders (intellectual disability, autism and attention-deficit hyperactivity disorder) with and without mental health problems. We outline different service models from around the world, ranging from the person centred to the institutional. Finally, we suggest ways of addressing some of the problems identified, including a model of integrated care involving intellectual disability, neurodevelopmental and mental health services that would better serve this population.
