A holistic approach to fragile X syndrome integrated guidance for person-centred care.

BACKGROUND: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). METHODS: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who have worked with those living with FXS over many years. RESULTS: The article scopes proposed integrated guidance over the life course, including appendices of symptoms, comorbidities and referral options for FXS and Fragile X Premutation Associated Conditions. CONCLUSION: Integrated guidance would provide an authoritative source for doctors, health professionals, therapists, care workers, social workers, educators, employers, families and those living with FXS, so that a holistic, person-centred approach can be taken across the United Kingdom to garner the best outcomes for those with FXS.

Preferences and experiences of parents/guardians of youth with epilepsy and intellectual disability on reproductive health counseling.

OBJECTIVE: To explore the experiences and preferences of parents/guardians of adolescents and young adults (AYA) of childbearing potential with co-occurring epilepsy and intellectual disability (ID) regarding counseling by neurologists on sexual and reproductive health (SRH) topics such as pregnancy, contraception, menstruation, and folic acid supplementation. METHODS: We conducted semi-structured interviews with parents/guardians of AYAs (12-28 years old) of childbearing potential with co-occurring epilepsy and ID, recruited from a tertiary-care children's hospital. We confirmed the diagnoses of epilepsy and ID with the patient's neurologist and parent/guardian. All degrees of ID (e.g. mild/moderate/severe) were eligible. We audio-recorded and transcribed interviews. Two coders performed qualitative thematic analysis. RESULTS: Twenty-five parents/guardians completed interviews. Themes included: (1) Parents/guardians believe their child to be immune from sexual abuse due to their supervision, yet desire counseling about abuse recognition and prevention, which they also report not occurring (2) A common opinion was that counseling on menstruation was more relevant to their child's life than counseling about pregnancy-related topics (3) Parents/guardians reported a lack of counseling on pregnancy-related topics such as folic acid supplementation and teratogenesis and generally also reported some degree of interest in hearing about these topics from neurologists (4) Parents/guardians also reported a lack of counseling on drug interactions between contraception and ASMs, and were highly interested in learning more about this topic (5) Parents/guardians want neurologists to initiate annual comprehensive SRH counseling at puberty about most topics, but report that they often initiate SRH discussions themselves. CONCLUSION: Parents/guardians of AYAs with epilepsy and ID prefer more frequent, neurologist-initiated, comprehensive conversations surrounding SRH particularly emphasizing menstruation and sexual abuse recognition/prevention. Findings may inform professional and patient education and health systems interventions including development of discussion guides and/or decision aides to improve SRH care for AYAs with epilepsy and ID.

Hirschsprung disease.

Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.

Mortality risk in adults with intellectual disabilities and epilepsy: an England and Wales case-control study.

BACKGROUND: People with epilepsy (PWE) and people with intellectual disabilities (ID) both live shorter lives than the general population and both conditions increase the risk of death further. We aimed to measure associations between certain risk factors for death in PWE and ID. METHODS: A retrospective case-control study was conducted in ten regions in England and Wales. Data were collected on PWE registered with secondary care ID and neurology services between 2017 and 2021. Prevalence rates of neurodevelopmental, psychiatric and medical diagnoses, seizure frequency, psychotropic and antiseizure medications (ASM) prescribed, and health activity (epilepsy reviews/risk assessments/care plans/compliance etc.) recorded were compared between the two groups. RESULTS: 190 PWE and ID who died were compared with 910 living controls. People who died were less likely to have had an epilepsy risk assessment but had a greater prevalence of genetic conditions, older age, poor physical health, generalized tonic-clonic seizures, polypharmacy (not ASMs) and antipsychotic use. The multivariable logistic regression for risk of epilepsy-related death identified that age over 50, medical condition prevalence, antipsychotic medication use and the lack of an epilepsy review in the last 12 months as associated with increased risk of death. Reviews by psychiatrists in ID services was associated with a 72% reduction in the odds of death compared neurology services. CONCLUSIONS: Polypharmacy and use of antipsychotics may be associated with death but not ASMs. Greater and closer monitoring by creating capable health communities may reduce the risk of death. ID services maybe more likely to provide this holistic approach.

Insights into Children with Down Syndrome: A Medical Student's Perspective.

Down syndrome is the most common chromosomal abnormality among liveborn infants that frequently causes intellectual disability. However, with proper medical care and support, children with Down syndrome can still lead fulfilling lives and achieve their full potential. The experience at Satyam Day Care Center has provided valuable insights into the challenges and opportunities of caring for children with Down syndrome. Advocating for increased awareness and understanding of Down syndrome, including its genetic causes, associated health conditions, and developmental delays is important. Keywords: developmental disabilities; Down syndrome; holistic health; medical student.

Making waves: The changing tide of cerebral palsy.

Cerebral palsy (CP) is a broad diagnosis unbound by aetiology and is based on a clinical examination demonstrating abnormalities of movement or posture. CP represents a static neurological condition, provided that neurodegenerative conditions, leukoencephalopathies and neuromuscular disorders are excluded. In paediatrics, the genetic conditions associated with CP are rapidly increasing, with primary and overlapping neurodevelopmental conditions perhaps better categorised by the predominant clinical feature such as CP, intellectual disability, autism spectrum disorder or epilepsy. Progress in molecular genetics may challenge what constitutes CP, but a genetic diagnosis does not negate the CP diagnosis. As clinicians working in the field, we discuss the changing tide of CP. Neuroimaging provides essential information through pattern recognition and demonstration of static brain changes. We present examples of children where a layered clinical diagnosis or dual aetiologies are appropriate. We also present examples of children with genetic causes of CP to highlight the challenges and limitations of neuroimaging to provide an aetiological diagnosis. In consultation with a geneticist, access to genomic testing (exome or genome sequencing) is now available in Australia under Medicare billing for children under the age of 10 with dysmorphic features, one or more major structural organ anomalies, (an evolving) intellectual disability or global developmental delay. We encourage the uptake of genomic testing in CP, because it can be difficult to tell whether a child has an environmental or genetic cause for CP. A specific genetic diagnosis may change patient management, reduce guilt and enable more distinctive research in the future to assist with understanding disease mechanisms.

A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome.

BACKGROUND: There are currently no pharmacological therapies to address the intellectual disability associated with Down syndrome. Excitatory/inhibitory imbalance has been hypothesized to contribute to impairments in cognitive functioning in Down syndrome. Negative modulation of the GABAA-α5 receptor is proposed as a mechanism to attenuate GABAergic function and restore the excitatory/inhibitory balance. METHODS: Basmisanil, a selective GABAA-α5 negative allosteric modulator, was evaluated at 120 mg or 240 mg BID (80 or 160 mg for 12-13 years) in a 6-month, randomized, double-blind, placebo-controlled phase II trial (Clematis) for efficacy and safety in adolescents and young adults with Down syndrome. The primary endpoint was based on a composite analysis of working memory (Repeatable Battery for the Assessment of Neuropsychological Scale [RBANS]) and independent functioning and adaptive behavior (Vineland Adaptive Behavior Scales [VABS-II] or the Clinical Global Impression-Improvement [CGI-I]). Secondary measures included the Behavior Rating Inventory of Executive Functioning-Preschool (BRIEF-P), Clinical Evaluation of Language Fundamentals (CELF-4), and Pediatric Quality of Life Inventory (Peds-QL). EEG was conducted for safety monitoring and quantitatively analyzed in adolescents. RESULTS: Basmisanil was safe and well-tolerated; the frequency and nature of adverse events were similar in basmisanil and placebo arms. EEG revealed treatment-related changes in spectral power (increase in low ~ 4-Hz and decrease in high ~ 20-Hz frequencies) providing evidence of functional target engagement. All treatment arms had a similar proportion of participants showing above-threshold improvement on the primary composite endpoint, evaluating concomitant responses in cognition and independent functioning (29% in placebo, 20% in low dose, and 25% in high dose). Further analysis of the individual measures contributing to the primary endpoint revealed no difference between placebo and basmisanil-treated groups in either adolescents or adults. There were also no differences across the secondary endpoints assessing changes in executive function, language, or quality of life. CONCLUSIONS: Basmisanil did not meet the primary efficacy objective of concomitant improvement on cognition and adaptive functioning after 6 months of treatment, despite evidence for target engagement. This study provides key learnings for future clinical trials in Down syndrome. TRIAL REGISTRATION: The study was registered on December 31, 2013, at clinicaltrials.gov as NCT02024789.

EMDR therapy for PTSD symptoms in patients with mild intellectual disability or borderline intellectual functioning and comorbid psychotic disorder: A case series.

BACKGROUND: Little is known about the effectiveness of EMDR therapy for PTSD symptoms in persons with mild intellectual disability or borderline intellectual functioning (MID-BIF, IQ 50-85) and psychosis. AIMS: To examine effectiveness, feasibility, and safety of eye movement desensitization and reprocessing (EMDR) therapy in six patients with MID-BIF, PTSD and psychotic disorder. METHODS AND PROCEDURES: Data were collected in a multiple baseline across-subjects design. Before, during and after treatment, weekly assessments on PTSD symptoms and adverse events were carried out. PTSD classification was assessed, and severity of hallucinations, delusions, and general psychopathology were measured at pretreatment, posttreatment and three-month follow-up. OUTCOMES AND RESULTS: There were no dropouts and five of the six participants completed treatment early. They showed a decrease in PTSD symptom severity and did no longer meet DSM-5 PTSD criteria at posttreatment. Results were maintained at follow-up. Symptoms did not exacerbate as indicated by a significant decrease in general psychopathology (in five participants) and an improvement in general functioning. In five participants severity of psychotic symptoms decreased. CONCLUSIONS AND IMPLICATIONS: EMDR therapy is safe and feasible and the results suggest that it can be an effective treatment for PTSD in patients with triple mental health problems in a tertiary mental health treatment setting.

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

BACKGROUND: Autism 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. METHOD: A 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. DISCUSSION: If 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 REGISTRATION: ClinicalTrials.gov ( NCT04557488 ). Registered September 21, 2020.

Nutritional Therapy with Vitamin K1 Is Effective in the Improvement of Vitamin K Status and Bone Turnover Markers in Patients with Severe Motor and Intellectual Disabilities.

We have previously reported that patients with severe motor and intellectual disabilities (SMID) have a high prevalence of vitamin K deficiency both in the liver and bone. Thus, vitamin K therapy for SMID patients should be considered. In the present study, we have studied the efficacy of nutritional therapy with vitamin K1 for improving their vitamin K status and bone metabolism markers in patients with SMID. During the 3-mo period, 19 patients under enteral feeding received vitamin K1 treatment, the dose of which was determined to meet each subject's energy requirement. Biomarkers of vitamin K insufficiency; protein induced by vitamin K absence or antagonist-II (PIVKA-II), undercarboxylated osteocalcin (ucOC), intact osteocalcin (intact OC) and bone turnover markers (tartrate-resistant acid phosphatase-5b: TRACP-5b and bone alkaline phosphatase: BAP) were measured at baseline and post treatment. The ucOC/OC ratio was calculated as a more sensitive index than ucOC for vitamin K status in the bone. After treatment, the median vitamin K intake increased from 66 to 183 µg/d, and serum levels of PIVKA-II and ucOC/OC ratio were significantly decreased. Decrements of serum ucOC level and ucOC/OC ratio were significantly associated with vitamin K intake, indicating that both markers well reflect the dose-dependent vitamin K effects. Serum levels of BAP and TRACP-5b were significantly increased after vitamin K1 therapy. Nutritional therapy with vitamin K1 effectively improved the markers for vitamin K status and bone turnover, and was considered to be a good candidate for treatment in SMID patients.

Self-induced soft-tissue injuries following dental anesthesia in children with and without intellectual disability. A prospective study.

PURPOSE: Self-induced soft-tissue injuries (SSI) are reported as local anesthesia complications, particularly in children. The purpose of the study was to evaluate the frequency of SSI following dental anesthesia in children with and without intellectual disability. METHODS: 241 children receiving dental treatments with local anesthesia were divided into 2 groups: A, children without intellectual disability (159 individuals, 299 injections); B, children with intellectual disability (82 individuals, 165 injections). Each group was divided into subgroups according to age, injection technique and dental treatment. Two days after the dental procedure, a phone survey was conducted to determine the presence of SSI. RESULTS: The frequency of SSI in group B was 19%, with no differences in relation to gender and age. In group A the frequency of SSI was significantly lower (9%; p = 0.002; Chi-square test); the children in the ≤ 6 years-old subgroup experienced a higher frequency of SSI (p = 0.002). The lower arch was at major risk of SSI in both groups (p = 0.002). According to a multilevel approach group (p = 0.001) and injection technique (p = 0.0001) significantly influenced SSI; no influence of dental treatment is evidenced. CONCLUSIONS: SSI are common complications of local anesthesia in young children and individuals with intellectual disability.

Interventions for Feeding and Swallowing Disorders in Adults with Intellectual Disability: A Systematic Review of the Evidence.

Feeding and swallowing disorders are prevalent in adults with Intellectual Disability (ID) and can potentially lead to discomfort, malnutrition, dehydration, aspiration, and choking. Most common interventions include: diet modification, compensatory strategies, swallowing therapy, and non-oral feeding. Despite their common use, the research evidence for these interventions is lacking. The current study aimed to systematically review the evidence for the safety and the effectiveness of interventions for feeding and swallowing disorders in adults with ID. Seven electronic databases, conference proceedings, and reference lists of relevant studies were reviewed from online availability to March 2019, with no language restrictions. Eligibility criteria encompassed experimental or non-experimental study design, adults (> 18 years) with ID and feeding and/or swallowing disorders (any etiology and severity) and any intervention for feeding and/or swallowing disorders. Methodological quality was assessed by two independent reviewers using the Downs and Black checklist. Four articles met the inclusion criteria. All included studies considered enteral feeding as an intervention strategy and had a retrospective observational design. Overall, included studies reported positive change in nutritional status and a high incidence of adverse events following enteral feeding initiation. Risk of bias was high with variability in methodological quality. The safety and effectiveness of interventions for feeding and swallowing in adults with ID is unclear. This review highlights the lack of evidence-based practice in this area. Directions for further research are provided. Before enteral feeding initiation, risks and benefits should be appropriately balanced on an individual basis, and caregivers should be involved in the decision-making process.

Weight-Bearing Physical Activity Influences the Effect of Vitamin D on Bone Turnover Markers in Patients with Intellectual Disability.

OBJECTIVES: Individuals with intellectual disabilities (IDs) are at increased risk for low bone mass and fragility fractures, and those who are nonambulatory may be at even higher risk. Patients with IDs often are vitamin D deficient, but there is little information concerning how vitamin D treatment of patients with IDs affects markers of bone formation and resorption. METHODS: We performed a retrospective analysis of 23 institutionalized individuals with IDs who were the subject of a performance improvement continuing medical education project designed to reduce risk for fracture by optimizing serum vitamin D levels. Patients were divided into those with normal weight-bearing (NWB) physical activity (15 patients: 14 men, 1 woman) and those with low weight-bearing (LWB) physical activity (8 patients: 7 men, 1 woman). All of the subjects received 50,000 IU of vitamin D3 weekly for 4 to 8 weeks, followed by a maintenance dose of 50,000 IU monthly for 3 to 6 months. Bone turnover markers (type 1 cross-linked C-telopeptide [CTX], type 1 N-terminal propeptide [P1NP], and parathyroid hormone [PTH]) and 25(OH)-vitamin D levels were measured before and after vitamin D supplementation. RESULTS: At baseline, there were no significant differences in the serum levels of 25OH-D, PTH, P1NP, or CTX between the two groups (NWB and LWB). Vitamin D levels were increased to a higher value in LWB subjects than in NWB subjects (61 ± 4.1 vs 48.4 ± 2.2 ng/mL, P < 0.001). Vitamin D treatment suppressed PTH (20.5% ± 14.3% vs 31.4% ± 7.7%, P = not significant) and P1NP (33.0% ± 6.2% vs 29.4% ± 6.9%, P = not significant) similarly in both groups. Although CTX levels declined by 26.4% ± 5.3% (P = 0.0002) in NWB individuals (as anticipated), vitamin D supplementation resulted in an unexpected 25.8% ± 8% increase (P = 0.01) in CTX in LWB individuals, suggesting osteoclast activation. CONCLUSIONS: Although high-dose vitamin D appeared to suppress osteoclast activity in NWB adults with IDs, the increase in serum CTX levels in those with LWB activity implies activation of osteoclasts that could exacerbate their unique low bone mass and increase fracture risk. The results support the use of a lower-dose vitamin D regimen in this patient group with LWB.

[Treatment of refractory aggressiveness by amygdalotomy and posteromedial hypothalamotomy by radiofrequency]. / Tratamiento de la agresividad refractaria mediante amigdalotomia e hipotalamotomia posteromedial por radiofrecuencia.

INTRODUCTION: Since, under certain circumstances, defensive or attacking behaviours display a pattern of motor dominance, as observed in subjects who participate in contact or fighting sports, aggressive behaviour was considered to have a dominant motor pattern. With the aim of preventing the functional problems reported with bilateral lesion procedures involving both the central nucleus of the amygdala and the posteromedial hypothalamus, the decision was made to combine them; thus, an amygdalotomy of the central nucleus of the amygdala and a posteromedial hypothalamotomy were to be performed simultaneously and unilaterally, on the basis of the motor dominance of the patient determined by means of the Edinburgh test. PATIENTS AND METHODS: This study describes the surgical experience in a series of nine patients diagnosed with refractory neuroaggressive syndrome. As part of the study protocol, a magnetic resonance brain scan was performed to rule out the presence of neoplasms, vascular diseases, infections and degenerative disorders. The degree of aggressiveness was quantified using Yudofsky's Overt Aggression Scale. Additionally, manual dominance was determined by means of the Edinburgh test. RESULTS AND CONCLUSIONS: Good control of aggressiveness was seen immediately. In some cases it was necessary to reduce the antipsychotic or benzodiazepine medication, as it was seen to increase aggressiveness. Only one case required a second surgical intervention. Follow-up was achieved in 100% of the cases at 24 months and 78% at 36 months.

TITLE: Tratamiento de la agresividad refractaria mediante amigdalotomia e hipotalamotomia posteromedial por radiofrecuencia.Introduccion. Dado que, en algunas circunstancias, las conductas defensivas o de ataque muestran un patron de dominancia motora, tal como se observa en los sujetos dedicados a los deportes de contacto o de lucha, se considero que la conducta agresiva tiene un patron motor dominante. Con el fin de evitar los problemas funcionales descritos con los procedimientos de lesion bilateral tanto del nucleo central de la amigdala como del hipotalamo posteromedial, se decidio combinarlos; es decir, realizar amigdalotomia del nucleo central de la amigdala e hipotalamotomia posteromedial de manera unilateral y simultanea, basandose en la dominancia motora del paciente mediante la prueba de Edimburgo. Pacientes y metodos. Este estudio muestra la experiencia quirurgica en una serie de nueve pacientes con el diagnostico de sindrome neuroagresivo resistente al tratamiento farmacologico. Dentro del protocolo de estudio, se les realizo resonancia magnetica cerebral para descartar la presencia de neoplasias, enfermedades vasculares, infecciones y trastornos degenerativos. El grado de agresividad se cuantifico mediante la escala global de agresividad de Yudofsky. Adicionalmente, se determino la dominancia manual a traves de la prueba de Edimburgo. Resultados y conclusiones. El buen control de la agresividad se observo de modo inmediato. En algunos casos fue necesario reducir la medicacion de antipsicoticos o benzodiacepinas, ya que aumentaban la agresividad. Solo un caso requirio una segunda cirugia. Se logro seguimiento del 100% de los casos en 24 meses y del 78% en 36 meses.

Total tooth loss without denture wear is a risk indicator for difficulty eating among older adults with intellectual disabilities.

OBJECTIVES: This study tests whether total tooth loss is a risk indicator for difficulty eating among a population with intellectual disability and whether complete denture wear mediates this risk. METHODS: Dentate status and difficulty eating were reported for a Nationally representative sample of 690 adults over forty with intellectual disabilities as part of The Intellectual Disability Supplement to The Irish Longitudinal Study on Ageing (IDS-TILDA). A logistic regression model tested the relationship between the Difficulty eating and Dentate status, controlling for the effects of other factors. RESULTS: Of the 690 participants, 505 had some teeth (Group 1), 56 had no teeth and reported wearing dentures (Group 2) and 129 had no teeth, not using dentures (Group 3). A parsimonious regression model was developed including all 406 cases with no missing data. Adjusting for the effects of other factors, it was found that, compared to Group 1, the odds of difficulty eating was twice as great (OR = 2.01, 95% CI = 1.02-4.03) among people without teeth, not using dentures (Group 3). Conversely, edentulous participants who had dentures (Group 2) had far lower odds (OR = 0.21, 95% CI = 0.06-0.64) of reporting difficulty eating compared with Group 1. CONCLUSIONS: For adults with ID, total tooth loss was predictive of difficulty eating only when untreated. People with disabilities should be encouraged to maintain a functional dentition through preventive and conservative treatment. When adults with ID become edentulous, oral rehabilitation may reduce the risk of difficulty eating. Dental assessment should be undertaken if people with ID present with difficulty eating.

Non-pharmacological interventions for adults with intellectual disabilities and depression: a systematic review.

BACKGROUND: Although high rates of depression symptoms are reported in adults with intellectual disabilities (IDs), there is a lack of knowledge about non-pharmacological treatment options for depression in this population. The first research question of this paper is: Which non-pharmacological interventions have been studied in adults with ID and depression? The second research question is: What were the results of these non-pharmacological interventions? METHOD: Systematic review of the literature with an electronic search in six databases has been completed with hand searches. Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines have been followed. Selected studies met predefined inclusion criteria. RESULTS: Literature search resulted in 4267 papers of which 15 met the inclusion criteria. Five different types of non-pharmacological interventions have been studied: cognitive behavioural therapy, behavioural therapy, exercise intervention, social problem-solving skills programme and bright light therapy. CONCLUSION: There are only a few studies of good quality evaluating non-pharmacological interventions for adults with ID and depression. Some of these studies, especially studies on cognitive behavioural therapy, show good results in decreasing depressive symptoms. High-quality randomised controlled trials evaluating non-pharmacological interventions with follow-up are needed.

Problem behaviours and psychotropic medication use in intellectual disability: a multinational cross-sectional survey.

BACKGROUND: Problem behaviours (PBs) are a common cause for clinician contact in people with disorders of intellectual development and may be a common cause for the prescription of psychotropic medication. We aimed to use a large, multinational sample to define the prevalence of PBs, the associations with psychotropic medication use, and to assess for any potential 'diagnostic overshadowing' by the label of PBs in a population of people with disorders of intellectual development. METHOD: A multinational, multi-setting, cross-sectional service evaluation and baseline audit was completed. Data were collected from UK hospitals, UK community settings, Sri Lanka and Hong Kong. A semi-structured questionnaire was completed by treating clinicians, capturing demographic details, prevalence rates of intellectual disability and psychotropic medication use, alongside psychiatric co-morbidity. RESULTS: A sample size of 358 was obtained, with 65% of included participants treated in an inpatient setting. Psychotropic use was prevalent (90%) in our sample, particularly antipsychotics (74%). The prevalence of PB was high (83%). There was no statistically significant association between psychotropic prescription and recorded psychiatric co-morbidity, suggesting prevalent 'off-label' use for PBs, or poor recording of psychiatric co-morbidity. There was some evidence of possible diagnostic overshadowing due to the PB classification. A higher dose of psychotropic medication was associated with aggression toward others (P = 0.03). CONCLUSIONS: We found evidence of prevalent potential 'off-label' use for psychotropic medication, which may be due to PBs. We also found evidence of potential diagnostic-overshadowing, where symptoms of psychiatric co-morbidity may have been attributed to PBs. Our findings provide renewed importance, across borders and health systems, for clinicians to consider a holistic approach to treating PBs, and attempting to best understand the precipitants and predisposing factors before psychotropic prescribing.

Effects of music on seizure frequency in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy.

BACKGROUND: Approximately one-third of patients with epilepsy continue to experience seizures despite adequate therapy with antiepileptic drugs. Drug-resistant epilepsy is even more frequent in subjects with intellectual disability. As a result, several non-pharmacological interventions have been proposed to improve quality of life in patients with intellectual disability and drug-resistant epilepsy. A number of studies have demonstrated that music can be effective at reducing seizures and epileptiform discharges. In particular, Mozart's sonata for two pianos in D major, K448, has been shown to decrease interictal EEG discharges and recurrence of clinical seizures in patients with intellectual disability and drug-resistant epilepsy as well. The aim of this study is to investigate the influence of Mozart's music on seizure frequency in institutionalized epileptic subjects with profound/severe intellectual disability. SUBJECTS AND METHODS: Twelve patients (10 males and 2 females) with a mean age of 21.6 years were randomly assigned to two groups in a cross-over design; they listened to Mozart K448 once a day for six months. RESULTS: A statistically significant difference was observed between the listening period and both baseline and control periods. During the music period, none of the patients worsened in seizure frequency; one patient was seizure-free, five had a greater than 50% reduction in seizure frequency and the remaining showed minimal (N=2) or no difference (N=4). The average seizure reduction compared to the baseline was 20.5%. Our results are discussed in relation to data in the literature considering differences in protocol investigation. CONCLUSIONS: Music may be considered a useful approach as add-on therapy in some subjects with profound intellectual disability and drug-resistant epilepsy and can provide a new option for clinicians to consider, but further large sample, multicenter studies are needed to better understand the characteristics of responders and non-responders to this type of non-pharmacological intervention.