Abuse of the disabled child: a systematic review of population-based studies

OBJECTIVE: To ascertain the strength of the association between childhood disability and abuse and neglect. METHODS: Systematic review of population-based studies published between 1966 and January 2006. Medline, Embase, Cinahl, Cochrane library, National Research Register, Social Sciences database and PsychInfo databases were searched for potentially relevant studies. Inclusion criteria: population-based cohort, case-control or cross-sectional studies of children <18 years of age that reported empirical data on the association of abuse with disability. Risk estimates were expressed as odds ratios with 95% confidence intervals (CI) where possible. Meta-analysis was not undertaken because of heterogeneity of studies. RESULTS: Four studies met the inclusion criteria. Two were longitudinal studies, one was a retrospective birth cohort and the remaining study was a cross-sectional survey. Types of disability studied varied widely as did methods used to ascertain abuse and neglect. Two studies accounted for potential confounding. Three studies reported an association between psychological and emotional disabilities and abuse. Two studies reported an association of learning disability with abuse. Only one study examined the association of physical disability (cerebral palsy) with abuse reporting an adjusted odds ratio for all forms of abuse of 1.79 (95% CI 0.96, 3.36) and for physical abuse of 3.00 (95% CI 1.29, 6.78). CONCLUSIONS: The evidence base for an association of disability with abuse and neglect is weak. Psychological and emotional problems, and learning difficulties appear to be associated with abuse but this association might arise because these conditions share a common aetiological pathway with abuse. There is limited evidence that physical disability predisposes to abuse.     

Evaluation of the driving ability in disabled persons: a practitioners' view

Purpose and methods. The purpose of this paper is to present, on the basis of four genuine cases from the Rehabilitation Research Unit of Oulu University, the theoretical frame in which evaluations of driving ability of disabled persons can be made.

Results. First, it is not the operations with the control devices but the correct mental actions which the driver carries out with the help of the control devices which are crucial for safe driving. Second, driving ability is only partly a biomedical object of research and one ought to avoid an excessive medicalisation of an evaluation of driving ability. Third, the driver meets traffic situations not by his or her separate biological or psychological functions, such as vision, attention, memory, thinking, motives, but as an integrated whole, as a personality.

Conclusions. By its complexity an evaluation of driving ability can be compared to an evaluation of working capacity where often a multidisciplinary team is needed. When evaluating driving ability we have to take a step from low-level motor operations towards high-level mental actions, from the measurement of acuity of eyesight towards the testing of the flexibility of perception, from the diagnosis-based evaluation to the patient-based evaluation, from using the common pencil - paper tests towards the traffic-related task-specific tests and from the testing of separate single general non-driving-related factors towards an evaluation of the theoretically based driving performance as whole.     

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

Although whole‐exome sequencing (WES) is the gold standard for the diagnosis of neurodevelopmental disorders (NDDs), it remains expensive for some genetic centers. Commercialized panels comprising all OMIM‐referenced genes called “medical exome” (ME) constitute an alternative strategy to WES, but its efficiency is poorly known. In this study, we report the experience of 2 clinical genetic centers using ME for diagnosis of NDDs. We recruited 216 consecutive index patients with NDDs in 2 French genetic centers, corresponded to the daily practice of the units and included non‐syndromic intellectual disability (NSID, n = 33), syndromic ID (NSID = 122), pediatric neurodegenerative disorders (n = 7) and autism spectrum disorder (ASD, n = 54). We sequenced samples from probands and their parents (when available) with the Illumina TruSight One sequencing kit. We found pathogenic or likely pathogenic variants in 56 index patients, for a global diagnostic yield of 25.9%. The diagnosis yield was higher in patients with ID as the main diagnosis (32%) than in patients with ASD (3.7%). Our results suggest that the use of ME is a valuable strategy for patients with ID when WES cannot be used as a routine diagnosis tool.     

GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia

Various genetic defects can cause intellectual and developmental disabilities (IDDs). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Recessive glutamate pyruvate transaminase (GPT2) mutations have recently been associated with IDD in 4 families. Here, we report a novel recessive GPT2 stop mutation p.Gln24* causing a complex IDD phenotype in a homozygous state in 5 patients from 2 consanguineous Arab families. By compiling clinical information of these individuals and previously described GPT2 patients a recognizable neurodevelopmental and potentially neurodegenerative phenotype can be assigned consisting of intellectual disability, pyramidal tract affection with spastic paraplegia, microcephaly and frequently epilepsy. Because of the consistent presence of pyramidal tract affection in GPT2 patients, we further suggest that GPT2 mutations should be considered in cases with complex hereditary spastic paraplegia.     

Hormones, menstrual distress, and migraine across the phases of the menstrual cycle

OBJECTIVE: The primary objectives of the present study were to (1) contrast reproductive hormone levels and ratings of menstrual distress of female migraineurs with those of a control group in each menstrual cycle phase, (2) examine correlations between hormone levels and migraine frequency, severity, and migraine-related disability, and (3) examine correlations between menstrual distress and migraine frequency, severity, and migraine-related disability. A secondary objective was to evaluate the validity of a migraine disability measure modified to reflect 7-day recall. BACKGROUND: Further controlled, prospective study is needed regarding the temporal relationships between reproductive hormones at each stage of the menstrual cycle and fluctuations in migraine activity across the cycle. METHODS: Twenty-three women (17 with migraine, 6 control participants) completed laboratory hormone assays and measures of menstrual distress and disability at each phase of one menstrual cycle, and monitored their headache activity daily during the same cycle. Results.-The migraine group evidenced lower premenstrual luteinizing hormone and more menstrual distress symptoms at each phase of the menstrual cycle. Hormones were associated with migraine activity and disability within cycle phases, and across phases in a time-lagged manner. Menstrual distress was associated with ovulatory phase migraine activity and with migraine-related disability across the menstrual cycle. A retrospective 7-day migraine disability measure appeared to be a consistently valid index. CONCLUSIONS: Both reproductive hormones and menstrually related distress appear to predict migraine activity and disability. These associations were evident not only for perimenstrual migraine, but also for migraine at each phase of the menstrual cycle.     

Interactive,mobile, AGIle and novel education (IMAGINE): a conceptual framework to support students with mobility challenges in higher education

Interactive, mobile, AGIle and novel education (IMAGINE) is a conceptual framework to help students with disabilities (SwD) participate more in the physical space and become more engaged in school. IMAGINE recommends and reminds students, and allows them to make requests of key learning resources (LRs). The goal of IMAGINE is to provide SwD with the location and time for attending a LR that is most optimal with respect to their learning style and preference, learning performance and other activities. IMAGINE will be a means through which SWD will be provided with tailored recommendations with respect to their daily activities to improve learning outcomes. A pilot was conducted with SwD who used IMAGINE’s navigation and wayfinding functionality, and the subjects reported that it aligns well with their needs. Preliminary results suggest that after completing a training and using the tool, SwD reported that they are more likely to use the tool and their participation may increase as a result. In contrast to before the trial, the SwD were also able to better describe the tool’s benefits and how to improve its functionality after using the tool for four weeks.

• Implications for Rehabilitation

• The IMAGINE tool may be a means through which SwD can be provided with tailored recommendations with respect to their daily activities to improve learning outcomes.

• PWD should be involved (as research study participants and research study team members) in the design and development of tools like IMAGINE to improve participation.

• IMAGINE and similar tools may not only encourage better learning outcomes, but also more physical participation in the community, and could be used across education and employment settings.

     

A comparison of disability and psychological factors in migraine and transformed migraine

The classification of patients with migraine who develop chronic daily headache is controversial, with some classifying such patients as 'transformed migraine'. We compared patients with intermittent migraine attacks and patients with transformed migraine in terms of mean headache intensity on days with headache, depression, pain-related anxiety and headache-related disability. Patients classified clinically as also having tension-type headache were excluded. Aside from the number of days with headache per month, patients with intermittent migraine attacks and patients with transformed migraine were very similar in terms of all parameters studied. Our results support the concept that these two headache groups are closely related.     

Disability is the major determinant of the severity of depressive symptoms in primary headaches but not in low back pain

Pain syndromes are often associated with depression. In a prospective study we analysed if determinants of depression differ among patients with different primary headaches and between headaches and non-headache pain. During a 2-year period between 1 February 2002 and 31 January 2004, 635 subjects (migraine n = 231; tension-type headache n = 176; cluster headache n = 11; patients with low back pain n = 103; and healthy subjects n = 114) seen by two neurologists filled in a questionnaire on pain characteristics, the MIDAS questionnaire and the Beck Depression Inventory. A multivariate general regression model was used to identify independent predictors of the severity of depressive symptoms. Pain was most frequent in chronic tension-type headache and most intense in the cluster subgroup (P < 0.001, Kruskal-Wallis ANOVA). In univariate tests gender, age, pain frequency, pain intensity and disability were all significantly associated with the severity of depressive symptoms. In the multivariate model disability was the most important independent determinant of the severity of depressive symptoms in the pooled headache group as well as in the migraine and tension-type headache subgroups. In contrast to patients with headache, pain frequency and pain intensity were the significant independent predictors of the severity of depressive symptoms in patients with low back pain. In a multivariate model, after controlling for other factors, determinants of the severity of depressive symptoms were different in headache and non-headache pain subjects, suggesting a different mechanism for developing depression in primary headaches and in other pain syndromes.     

A community-based exercise program to increase participation in physical activities among youth with disability: a feasibility study

Purpose: To evaluate the feasibility of a student-mentored community-based exercise program for youth with disability.

Method: Nineteen youth (nine female; mean age 18 years) with disability (seven cerebral palsy, six Down syndrome, three spina bifida, two autism spectrum disorder, one spinal cord injury) were recruited. Each participant was matched with a student mentor and exercised twice a week for 12?weeks at their local gymnasium. Five domains of feasibility were assessed: demand, implementation, practicality, limited efficacy testing, and acceptability.

Results: Demand comprised 55 expressions of interest. Demonstrating evidence of implementation, 91% of scheduled sessions were attended and training fidelity (comparing training load in weeks 1 and 12) showed exercise intensity significantly increased for strength and aerobic exercises. The program was practical with no major and 17 minor adverse events (e.g., muscle soreness). Limited efficacy testing was demonstrated by increased arm (4?kg, 95% CI: 1–7) and leg strength (43?kg, 95% CI: 24–62), walking endurance (80?m, 95% CI: 24–137), and improvement in three dimensions of health-related quality of life (autonomy, physical, and psychological well-being). The program was accepted very positively by participants.

Conclusions: A student-mentored community-based exercise program feasibly engages youth with disability in community-based exercise.

• Implications for Rehabilitation

• A 12-week community-based student-mentored exercise program for youth with disability is feasible.

• Exercising in a real-world setting with a student mentor has a positive effect on physical and psychological well-being of youth with disability.