Caregiving burden of families looking after persons with intellectual disability and behavioural or psychiatric problems

Background During the last decade, there has been a growing interest in outpatient support services for persons with intellectual disability (ID) and psychiatric and/or behavioural problems and their families. In this study, we explore the family burden that is associated with children or adults with ID and behavioural or psychiatric problems living at home. Method The research group consisted of 66 clients of In Casa, a project of outpatient treatment. Their average age is 18.97 years and their average IQ 55.37. The Reiss Screen for Maladaptive Behaviour (adults) or Reiss Scales for Children's Dual Diagnosis (children) and the Nijmegen Family Situation Questionnaire have been administered. Results About 62% of the children and 86% of the adults living at home and referred to In Casa have severe psychiatric or behavioural problems as measured by the Reiss scales. The dual diagnosis has a more negative impact on the family situation than the condition of ID only. Conclusion Parents consider the psychiatric or behavioural problems of their child to be an extra burden and feel it more difficult to raise and manage such a child. This impels them to change the situation and to call on the help of external services. Some methodological questions and the implications of the findings in terms of support needs are discussed.     

The disability rating index: An instrument for the assessment of disability in clinical settings

The purpose of this study was to evaluate an instrument for assessment of physical disability, mainly intended for clinical settings, the Disability Rating Index (DRI). Healthy persons (n = 1092), both white and blue collar workers, and patients (n = 366) with different levels of physical capacity, were assessed. Most of the patients (n = 303) underwent rehabilitation programmes for neck/shoulder/low-back pain but some (n = 47) were arthritis patients waiting for hip or knee replacement surgery, or wheelchair patients with multiple sclerosis (n = 16). The reliability was investigated by test-retest studies, intra- and inter-rater and internal consistency studies. Five construct validity tests were carried out: a discrimination study; a converging validity test; a test for sensitivity to small alterations in health status; and two correlational validity tests. Correlation of the self-reported DRI to the actual performance in similar activities was carried out. Responsiveness was tested by correlation of the DRI before/after replacement surgery for arthritis. The test-retest correlations were 0.83–0.95 in the studies, including correlation of different versions. The intra- and inter-rater reproducibility was 0.98 and 0.99 respectively. The Kruskal-Wallis test in the discrimination study yielded p < 0.0001. More than 90% of the respondents completed the questionnaire correctly. Correlation of the DRI to the Functional Status Questionnaire was 0.46. The responsiveness was excellent, p = 0.0001. The DRI proved to be a robust, practical clinical and research instrument with good responsiveness and acceptability for assessment of disability caused by impairment of common motor functions.     

Intellectual property considerations in the development and use of HRQL measures for clinical trial research

As a result of the expanded use of health-related quality of life (HRQL) measures in clinical trial research, a variety of legal and ethical issues have surfaced. These issues can be put in the form of the following questlons: (1) Under what circumstances should access to HRQL measures be restricted? (2) Under what circumstances is it appropriate for the developers of HRQL measures to assert their intellectual property rights to the instruments? (3) Under what circumstances is personal profit from the sale and use of HRQL measures legally and socially appropriate? Access to HRQL research is to be encouraged since this is necessary for this field to progress. However, the need for protection against misuse of ongoing work is real and may justify the assertion of intellectual property rights. HRQL measures developed entirely with public monles should remain in the public domain or be managed for the public good. Instruments developed with private funds or with a mix of public and private funds should be treated in a manner that refiects a fair balance between the rights of the private developer and those of the scientific community and the public. HRQL questionnaires are regularly being refined; such work is costly. Investigators continuing research directly related to instrument refinement might reasonably ask for compensation from those who wish to use their work.     

Sexual self views of women with disabilities: The relationship among age-of-onset,nature of disability and sexual self-esteem

The sexual self-esteen of 43 women with mobility impairments was examined on the basis of age-of-onset and nature (fluctuating versus stable health conditions) of disability. Based on past literature, it was hypothesized that women with earlier age-of-onset disabilities would report lower positive levels of sexual self-esteem compared to women with later age-of-onset disabilities. Subjects were acquired through two computer on-line services, two large urban universities, and nationally based disability-related organizations. A hierarchical multiple regression indicated that as age-of-onset of disability increased (i.e. the disability occurred later in life), positive sexual self-esteem decreased significantly. Future research should acquire participants from residential institutions other than rehabilitation facilities and those who remain at home. The necessity of creating psychological scales and tools applicable to this population is discussed.     

儿童感觉统合失调及其影响因素的调查分析

目的 研究儿童感觉统合失调与学习障碍及环境因素的关系。方法 采用感觉统合评定量表和学习障碍(PRS)筛查量表，分别对755名学龄儿童进行检测、分析。结果 感觉统合严重失调率为13．25％；感觉统合正常与失调儿童的学习障碍有统计学差异(P＜0．005)；其中在LD儿童中感觉统合失调率占63．51％；感觉统合失调与母孕期的情绪、是否足月顺产、出生后的喂养方式、居住环境、孩子1岁内有无高热、家长对孩子的态度及期待等因素有关(P＜0．05)。结论 儿童感觉统合失调与环境因素、学习障碍有一定的关系。     

No correlation between number of MRI-evident lesions in cerebrum and the soleus stretch reflex in multiple sclerosis patients

The aim of the study was to investigate if the stretch reflex of the soleus muscle was useful in quantifying upper motor neuron lesions. The soleus stretch reflex was recorded in 10 healthy subjects and 20 patients with active relapsing-remitting multiple sclerosis and correlated to the number of MRI lesions in cerebrum and clinical scores (expanded disability status scale and regional functional scoring system). The short latency stretch reflex was elicited by rotating the left ankle joint 4 degrees with a rise time in the interval of 40-640 ms. The amplitude of the stretch was larger in multiple sclerosis patients being 88.5 microV in patients and 12.8 microV in controls, P = 0.007. The sensitivity of the stretch reflex expressed as the slope of the best linear fit was increased in MS patients to 2.6 microVs/degree compared with 0.6 microVs/degree (0.1-2.2) in controls, P = 0.009. There was no correlation between amplitude of the stretch reflex and number of MRI lesions (r = -0.03). In conclusion, the soleus stretch reflex might be useful to quantify spasticity but is not useful in detecting dysfunction of upper motor neurons in MS.     

"Chronic painter''s syndrome". A reanalysis of psychological test data in a group of diagnosed cases, based on comparisons with matched controls

Twenty solvent-exposed workers, most of them painters, had been diagnosed as cases of toxic encephalopathy in 1978/79. Two years later they were re-examined with an extensive battery of neuropsychological tests. Their performance was unchanged on retesting. We have now compared their test results with those of non-exposed control subjects. Previous impressions of significant intellectual impairment in the solvent-exposed patients could not be confirmed when the influence of age, education, and intelligence was taken into consideration. The present group with presumed toxic encephalopathy is assumed to be representative of other patients who were similarly diagnosed in our department. The presently reanalyzed cases had been diagnosed as brain damaged and reported as such in the literature. Thus, they may have contributed to the formation of the concept of the "chronic painters' syndrome" with dementia.     

Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention‐deficit/hyperactivity disorder

Comorbidity is pervasive among both adult and child psychiatric disorders; however, the etiological mechanisms underlying the majority of comorbidities are unknown. This study used genetic linkage analysis to assess the etiology of comorbidity between reading disability (RD) and attention‐deficit hyperactivity disorder (ADHD), two common childhood disorders that frequently co‐occur. Sibling pairs (N = 85) were ascertained initially because at least one individual in each pair exhibited a history of reading difficulties. Univariate linkage analyses in sibling pairs selected for ADHD from within this RD‐ascertained sample suggested that a quantitative trait locus (QTL) on chromosome 6p is a susceptibility locus for ADHD. Because this QTL is in the same region as a well‐replicated QTL for reading disability, subsequent bivariate analyses were conducted to test if this QTL contributed to comorbidity between the two disorders. Analyses of data from sib pairs selected for reading deficits revealed suggestive bivariate linkage for ADHD and three measures of reading difficulty, indicating that comorbidity between RD and ADHD may be due at least in part to pleiotropic effects of a QTL on chromosome 6p. © 2002 Wiley‐Liss, Inc.     

Neurological phenotype of Potocki–Lupski syndrome

Potocki–Lupski syndrome is a condition mainly characterized by infantile hypotonia, developmental delay/intellectual disability (DD/ID), and congenital anomalies, caused by duplications of the 17p11.2 region, encompassing RAI1 gene. Its clinical presentation is extremely variable, especially for what concerns the cognitive level and the behavioral phenotype. Such aspects, as well as the dysmorphic/malformative ones, have been covered by previous studies; otherwise neurological features have never been systematically described. In order to delineate the neurological phenotype of Potocki–Lupski Syndrome, we collect an 8‐patients cohort. Developmental milestones are delayed and a mild to moderate cognitive impairment is present in all patients, variably associated with features of autism spectrum disorder, behavioral disturb, and sleep disturb. Hypotonia appears a less frequent finding than what previously reported, while motor clumsiness/coordination impairment is frequent. EGG registration demonstrated a common pattern with excess of diffuse rhythmic activity in sleep phases or while the patient is falling asleep. Brain MRI did not reveal common anomalies, although unspecific white matter changes may be present. We discuss such findings and compare them to literature data, offering an overview on the neurological and cognitive‐behavioral presentation of the syndrome.     

Female‐restricted syndromic intellectual disability in a patient from Thailand

Female‐restricted syndromic intellectual disability (ID) is a neurodevelopmental disorder with developmental delay (DD)/ID, facial dysmorphism, and diverse congenital anomalies comprising heart defects, anal anomalies, choanal atresia, postaxial polydactyly, scoliosis, and brain abnormalities. Loss‐of‐function mutations in the USP9X gene inherited as X‐linked dominance were identified as its etiology in females of different ethnic groups. Here, we report a 15‐year‐old Thai girl harboring a novel de novo heterozygous one‐base pair deletion (c.3508delG, p.Val1170TrpfsX9) in exon 23 of USP9X. Her profound DD, dysmorphic face including attached earlobes, short stature, and congenital malformations including s‐shaped thoracolumbar scoliosis, hip dislocation, and generalized brain atrophy shared common characteristics of X‐linked syndromic ID. We have observed severely malformed oro‐dental organs and a choledochal cyst, which have never been reported. Our study presents the first patient from Thailand expanding the phenotypic and mutational spectra of the syndrome.