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Patients with severe motor and intellectual disability (SMID) experience persistent spastic pain and severe malpositioning of the limbs, exacerbated by the lack of effective treatment for severe spastic palsy. This study (UMIN-CTR, UMIN000048842) aimed to evaluate the efficacy and safety of radial extracorporeal shock wave therapy (rESWT) for spastic palsy in these patients. rESWT was applied to the biceps brachii of 15 elbow joints with flexion pattern spastic palsy of Modified Ashworth Scale (MAS) grade 1+ or greater in 11 patients with SMID. The MAS score, elbow range of motion (ROM) and adverse events were monitored for up to 10 weeks. Electromyography signals at rest were recorded on 8 elbow joints. Following a single rESWT session, the spasticity of the elbow joint immediately decreased, the MAS score significantly decreased from 2 (range, 2–3) to 1 (range, 1–2), and the elbow ROM significantly increased by 10° (range, 0°–15°). Moreover, muscle activity decreased by 24% (range, 11–37%), being clinically meaningful in SMID. rESWT resulted in an immediate and clear improvement in the MAS score for approximately 8 weeks and in the elbow ROM, continuing even at 10 weeks. Our findings highlight rESWT as a non-invasive therapy for spastic palsy in patients with SMID.

Individuals with intellectual disabilities (ID) often exhibit lower levels of physical fitness compared to the general population, including reduced strength, endurance, flexibility, and coordination. Dynamic neuromuscular stabilization (DNS) training can potentially improve the performance of adults with ID caused by weak motor skills due to a lack of desirable nerve growth during childhood and before puberty. Also, DNS training proposed to improve physical fitness in this population, but the effectiveness and durability of DNS training on specific fitness components have not been well-established. This study employed a randomized controlled trial design to investigate the effects of an 8-week DNS training program on the strength, endurance, and flexibility of adults with ID. A total of 31 participants were randomly assigned to either an intervention group ( n  = 16) or a control group ( n  = 15). Muscular strength, endurance, and flexibility were assessed at baseline (pre-test), immediately after the intervention (post-test), and 2 months following the intervention (follow-up) using the 30-second chair stand (30sCS) test, sit-ups test, trunk lift test, and chair sit-and-reach test. Participants in the intervention group engaged in the DNS training program for 8 weeks, with 3 sessions per week, while the control group maintained their usual activities. The analysis of the outcome measures revealed significant time, group, and time-group interaction effects. Post-hoc analyses indicated that the DNS group exhibited significantly greater improvements in 30sCS, sit-ups, trunk lift, and chair sit-and-reach compared to the control group ( p  < 0.01). These improvements were maintained at the 2-month follow-up assessment in the DNS group. This randomized controlled trial demonstrates that an 8-week DNS training program significantly improves muscular strength, endurance, and flexibility in adults with ID, with benefits maintained at a 2 month follow-up. Further research is needed to replicate these findings and investigate underlying mechanisms, but the study highlights the potential of DNS training to promote physical fitness and well-being in individuals with ID. Trial registration RTC, prospectively registered in the Clinical Trial Registry (UMIN000053560) on 24/03/2024.

Background Sensory reactivity differences are common across neurodevelopmental disorders (NDDs), however very few studies specifically examine tactile or pain responses in children with NNDs, especially those with communication challenges. The current study aimed to (a) replicate the feasibility of a modified quantitative sensory test (mQST) with a sample of children with NDDs, (b) assess validity evidence based on behavioral reactivity during mQST application and the corresponding behavioral measurement coding system, and (c) explore group differences in behavioral reactivity to mQST stimuli by demographic (sex), clinical (autism status), and behavioral pathology (self-injury) variables. Methods The mQST protocol was implemented and blindly coded across 47 participants aged 2–12 years ( M age = 6.7 years, SD  = 2.6; 70% male) with NDDs. Feasibility was measured by completion of the mQST protocol and interobserver agreement. Validity was assessed using paired t -tests investigating differences between behavioral reactivity to active stimuli compared to a sham trial. Boxplots were used to visually explore differences in group characteristics (sex, autism status, and self-injurious behavior), with two-sample t -tests used to further characterize differences in SIB group characteristics in behavioral reactivity to mQST stimuli. Results The mQST provided codable data across 91% of stimuli applications with high IOA (84.7% [76.7–95%]). Behavioral reactivity was significantly higher for active vs. sham stimuli. Children reported to engage in self-injurious behavior showed significantly more reactivity to the second half of the repeated von Frey stimulus application compared to children without caregiver-reported self-injurious behavior (M = 6.14, SD = 3.44), t (40)= -2.247, p  =.04). Conclusion The mQST is a feasible approach to investigate tactile reactivity in children with NDDs and complex communication needs. The mQST may be useful in understanding sensory variables in relation to developmental and behavioral outcomes such as self-injurious behavior.

Focal cortical dysplasia (FCD) type II is an important cause of drug-resistant epilepsy. Clinical presentation is variable, and depends on age of onset of seizures and the location and size of lesion. As FCD type II cannot be diagnosed with certainty in the clinic, in vivo identification by use of MRI is important. Diagnosis will have a major effect on management of this pathology as it should prompt referral for specialist assessment. Drug treatment commonly proves ineffective, whereas appropriate surgical treatment can be curative in many cases. The dramatic cellular anomalies of FCD seen at histopathology indicate a widespread pattern of molecular disruption underpinning the structural disorganisation of the cortex. The cause for FCD has not been firmly established, and there are no explanations for its potent intrinsic ability to cause seizures. There seem to be both neurodevelopmental abnormalities and possible premature neurodegeneration in FCD. Understanding the coordination of the abnormal processes in FCD type II might help to promote improved detection in vivo, direct treatment strategies, and perhaps help explain the development, differentiation, and loss of brain cells, with broad implications for the epilepsies and other neurological disorders.

Background Findings suggest approximately one in six people with intellectual disability engage in ‘challenging behaviours’, which include aggression towards others/property and self-injurious actions. In residential settings, actions of staff members can make challenging behaviours more likely to occur, or make these behaviours worse. In particular, negative attitudes from members of staff and lack of understanding about the reasons for challenging behaviour are contributory factors. ‘Who’s Challenging Who?’ (WCW) training is designed to emphasise the role of staff in residential settings as a challenge also to people with intellectual disability. The course is delivered jointly by a trainer with intellectual disability who has been labelled as having challenging behaviour, along with a trainer without intellectual disability. Methods This is a cluster randomised two-arm trial of WCW training versus a waiting list control. Overall, 118 residential settings will be recruited and randomised on a 1:1 ratio. Within each setting, two members of staff will be invited to take part in the trial. Participants will complete assessments at baseline and at 6 and 20 weeks. WCW is a half day initial training course with some follow-on coaching to ensure implementation. The primary outcome is changes in staff empathy towards people with challenging behaviour. Secondary outcomes at the staff level include confidence, attitudes and work-related well-being. Secondary outcomes at the residential setting level include recorded incidents of aggressive challenging behaviour, and use of any restrictive practices. Discussion If the results of the cluster randomised trial are positive, we will disseminate the findings widely and make all training manuals and materials freely available for anyone in intellectual disability services (and beyond) to use. Our training approach may have wider implications in other areas of social care. It may also provide a generally applicable model for how to train people with intellectual disability to act as co-trainers in intellectual disability social care settings. People with intellectual disability and challenging behaviour have already been involved centrally with the design, development and pilot evaluation of WCW and will also be fully involved throughout this trial. Trial registration Registered on the International Standard Randomised Controlled Trial Number registry on 8th December 2015: ISRCTN53763600 .

Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generally raised after school age, when visual disturbances lead to CRD diagnosis and to VPS13B gene testing. This relatively late diagnosis precludes accurate genetic counselling. The aim of this study was to analyse the evolution of CS facial features in the early period of life, particularly before school age (6 years), to find clues for an earlier diagnosis. Photographs of 17 patients with molecularly confirmed CS were analysed, from birth to preschool age. By comparing their facial phenotype when growing, we show that there are no special facial characteristics before 1 year. However, between 2 and 6 years, CS children already share common facial features such as a short neck, a square face with micrognathia and full cheeks, a hypotonic facial appearance, epicanthic folds, long ears with an everted upper part of the auricle and/or a prominent lobe, a relatively short philtrum, a small and open mouth with downturned corners, a thick lower lip and abnormal eye shapes. These early transient facial features evolve to typical CS facial features with aging. These observations emphasize the importance of ophthalmological tests and neutrophil count in children in preschool age presenting with developmental delay, hypotonia and the facial features we described here, for an earlier CS diagnosis.

To synthesize evidence on the prevalence and incidence of physical health conditions in people with intellectual disability (ID). We searched Medline, PsycInfo, and Embase for eligible studies and extracted the prevalence, incidence, and risk of physical health conditions in people with ID. Of 131 eligible studies, we synthesized results from 77 moderate- to high-quality studies, which was mainly limited to high-income countries. The highest prevalence estimates were observed for epilepsy, ear and eye disorders, cerebral palsy, obesity, osteoporosis, congenital heart defects, and thyroid disorders. Some conditions were more common in people with a genetic syndrome. Compared with the general population, many health conditions occur more frequently among people with ID, including asthma and diabetes, while some conditions such as non-congenital circulatory diseases and solid cancers occur at the same or lower rate. The latter associations may reflect under-detection. People with ID have a health profile more complex than previously known. There is a pressing need for targeted, evidence-informed population health initiatives including preventative programs for this population.

Background Many adults with intellectual disabilities have poor dietary habits, low physical activity and weight disturbances. This study protocol describes the design and evaluation of a health intervention aiming to improve diet and physical activity in this target group. In Sweden, adults with intellectual disabilities often live in community residences where the staff has insufficient education regarding the special health needs of residents. No published lifestyle interventions have simultaneously targeted both residents and staff. Methods/Design The intervention is designed to suit the ordinary work routines of community residences. It is based on social cognitive theory and takes 12-15 months to complete. The intervention includes three components: 1) Ten health education sessions for residents in their homes; 2) the appointment of a health ambassador among the staff in each residence and formation of a network; and 3) a study circle for staff in each residence. The intervention is implemented by consultation with managers, training of health educators, and coaching of health ambassadors. Fidelity is assessed based on the participation of residents and staff in the intervention activities. The study design is a cluster-randomised trial with physical activity as primary outcome objectively assessed by pedometry. Secondary outcomes are dietary quality assessed by digital photography, measured weight, height and waist circumference, and quality of life assessed by a quality of life scale. Intermediate outcomes are changes in work routines in the residences assessed by a questionnaire to managers. Adults with mild to moderate intellectual disabilities living in community residences in Stockholm County are eligible for inclusion. Multilevel analysis is used to evaluate effects on primary and secondary outcomes. The impact of the intervention on work routines in community residences is analysed by ordinal regression analysis. Barriers and facilitators of implementation are identified in an explorative qualitative study through observations and semi-structured interviews. Discussion Despite several challenges it is our hope that the results from this intervention will lead to new and improved health promotion programs to the benefit of the target group. Trial registration number ISRCTN33749876

The 22q11.2 deletion syndrome (22q11DS) is associated with a 20–25% risk of schizophrenia. In a cohort of 962 individuals with 22q11DS, we examined the shared genetic basis between schizophrenia and schizophrenia-related early trajectory phenotypes: sub-threshold symptoms of psychosis, low baseline intellectual functioning and cognitive decline. We studied the association of these phenotypes with two polygenic scores, derived for schizophrenia and intelligence, and evaluated their use for individual risk prediction in 22q11DS. Polygenic scores were not only associated with schizophrenia and baseline intelligence quotient (IQ), respectively, but schizophrenia polygenic score was also significantly associated with cognitive (verbal IQ) decline and nominally associated with sub-threshold psychosis. Furthermore, in comparing the tail-end deciles of the schizophrenia and IQ polygenic score distributions, 33% versus 9% of individuals with 22q11DS had schizophrenia, and 63% versus 24% of individuals had intellectual disability. Collectively, these data show a shared genetic basis for schizophrenia and schizophrenia-related phenotypes and also highlight the future potential of polygenic scores for risk stratification among individuals with highly, but incompletely, penetrant genetic variants. Polygenic risk scores are nearing a level of differentiation required for their clinical utility in risk prediction in populations with high-risk rare pathogenic genetic variants.

Exome sequencing has found an excess of de novo mutations in the ∼4,000 most intolerant genes in patients with two classical epileptic encephalopathies (infantile spasms and Lennox–Gastaut syndrome); among them are multiple de novo mutations in GABRB3 and ALG13 . Epilepsy-linked mutations revealed An extensive exome sequencing study of patients with two 'classical' epileptic encephalopathies — infantile spasms and Lennox-Gastaut syndrome — has found an excess of de novo mutations in the approximately 4,000 genes that are the most intolerant to functional genetic variation in the human population. Among them are de novo mutations in GABRB3 and ALG13 , both showing statistical evidence of an association with epileptic encephalopathy. As in autism spectrum disorders, these de novo mutations are enriched in genes regulated by fragile X protein. Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown 1 . Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms ( n = 149) and Lennox–Gastaut syndrome ( n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations. A likelihood analysis showed a significant excess of de novo mutations in the ∼4,000 genes that are the most intolerant to functional genetic variation in the human population ( P = 2.9 × 10 −3 ). Among these are GABRB3 , with de novo mutations in four patients, and ALG13 , with the same de novo mutation in two patients; both genes show clear statistical evidence of association with epileptic encephalopathy. Given the relevant site-specific mutation rates, the probabilities of these outcomes occurring by chance are P = 4.1 × 10 −10 and P = 7.8 × 10 −12 , respectively. Other genes with de novo mutations in this cohort include CACNA1A , CHD2 , FLNA , GABRA1 , GRIN1 , GRIN2B , HNRNPU , IQSEC2 , MTOR and NEDD4L. Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein ( P  < 10 −8 ), as has been reported previously for autism spectrum disorders 2 .