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PubMed2005

Spectrum of corpus callosum agenesis.

Magnetic resonance imaging and clinical features of 16 children with agenesis of the corpus callosum are reviewed. The patients were classified in three groups. Eight children had agenesis of the corpus callosum without substantial involvement of other brain areas. This group included patients with interhemispheric cyst, lipoma, or partial agenesis (hypogenesis) of the corpus callosum. Four patients in the second group manifested severe telencephalic dysgenesis in addition to agenesis of the corpus callosum. In the third group, agenesis of the corpus callosum was a component of a syndrome in four children. The outcome was not favorable for the majority of patients, even in the first group without significant involvement of other systems. Severe handicaps with developmental delay, intellectual disability, and neurologic deficit were observed in patients with additional telencephalic dysgenesis or syndromic form of corpus callosum agenesis.

Abnormalities, Multiple↗

PubMedDate not supplied

Weight loss in adults with Down syndrome and with dementia in Alzheimer's disease.

An association between weight loss and Alzheimer's disease has been established in the general population but little information is available regarding this association in people with intellectual disabilities. A 4-year longitudinal study of adults with Down syndrome with and without Alzheimer's disease was undertaken. Age-associated weight loss was seen in virtually all older adults with Down syndrome. A significant association between weight loss and Alzheimer's disease was found for older adults with Down syndrome. This study highlights important research and clinical issues regarding weight loss and nutrition in Down syndrome adults with dementia.

Adult↗

PubMedDate not supplied

The Adaptive Behaviour Dementia Questionnaire (ABDQ): screening questionnaire for dementia in Alzheimer's disease in adults with Down syndrome.

The diagnosis of dementia in Alzheimer's disease remains at times problematic in adults with intellectual disability. The analysis of 5-year consecutive data developed a researched-based clinical screening tool for dementia in Alzheimer's disease in adults with Down syndrome. The Adaptive Behaviour Dementia Questionnaire (ABDQ) is a 15-item questionnaire, which is used to detect change in adaptive behaviour. The scale has good reliability and validity, with an overall accuracy of 92%. It is the first clinical tool designed specifically to screen for dementia in Alzheimer's disease in adults with Down syndrome.

Adaptation, Psychological↗

PubMed2004

Considering student choice when selecting instructional strategies: a comparison of three prompting systems.

Three secondary age students with moderate intellectual disabilities learned to use the system of least prompts, a self-operated picture prompting system, and a self-operated auditory prompting system to use a copy machine and a debit machine. Both the effectiveness and efficiency of these prompting systems were compared. Additionally, student preference of instructional method was examined. The results demonstrated that each prompting system was effective and efficient with varying students when skill acquisition and duration of task performance were measured. All students demonstrated increased independence in completing both tasks. This study found that the preferred prompting systems were more effective in terms of both skill acquisition and duration for completing tasks for students.

Adolescent↗

PubMed2005

On some psychometric properties of the questions about behavioral function (QABF) scale.

This study examined certain psychometric properties of the questions about behavioral function (QABF) scale. The QABF was completed on 118 problem behaviours presented by 40 young people with severe intellectual disabilities, and measures of inter-rater reliability, internal consistency, and construct validity were calculated overall and for subgroups of behaviours defined by topography and reported frequency. Levels of inter-rater reliability for both individual items and subscales were generally modest, but inter-rater reliability of rankings of subscale scores exceeded that reported for other comparable assessments. Inter-rater agreement was higher for higher rate behaviours and lower for maladaptive (versus disruptive and destructive) behaviours. Internal consistency was high for all QABF subscales, but also for the scale as a whole. Factor analysis yielded five factors clearly corresponding to the five QABF subscales and a sixth relating to a single item concerning the repetitive nature of the behaviour. Methodological issues which may have reduced levels of reliability are discussed. We conclude that in terms of psychometric properties, the QABF presents some specific advances on previous brief scales assessing behavioural function, but also that it continues to be appropriate to use other observational or experimental methods together with such scales when conducting functional assessments.

Adult↗

PubMed2005

Assessing side effects of pharmacotherapy treatment of bipolar disorder: a 20-year review of the literature.

A substantial literature on the effective treatment of bipolar disorder has begun to appear, particularly in the last 20 years. The majority of treatments studied have employed medications, particularly mood stabilizers, atypical antipsychotics and antidepressants. Most treatments produce side effects and medications are no exception. A review of assessment methods used to evaluate side-effect profiles is presented, along with author interpretations of these data in terms of cost and benefits. Additionally, a discussion of the implications for side-effect monitoring and management during short-term versus more long-term treatments is presented with respect to the general and intellectual disability populations. Summaries of relevant drug side-effect assessment practices are presented and future research directions are suggested.

Antipsychotic Agents↗

PubMed2006

Cognitive-behavioral treatment for specific phobias with a child demonstrating severe problem behavior and developmental delays.

Cognitive-behavioral treatments (CBTs) are widely used for anxiety disorders in typically developing children; however, there has been no previous attempt to administer CBT for specific phobia (in this case study, one-session treatment) to developmentally or intellectually disabled children. This case study integrates both cognitive-behavioral and behavior analytic assessment techniques in the CBT of water and height phobia in a 7-year-old male with developmental delays and severe behavior problems. One-session treatment [Ost, L. G. (1989). One-session treatment for specific phobias. Behaviour Research and Therapy, 27, 1-7; Ost, L. G. (1997). Rapid treatment of specific phobias. In G. C. L. Davey (Ed.), Phobias: A handbook of theory, research, and treatment (pp. 227-247). New York: Wiley] was provided for water phobia and then 2 months later for height phobia. The massed exposure therapy sessions combined graduated in vivo exposure, participant modeling, cognitive challenges, reinforcement, and other techniques. Both indirect and direct observation measures were utilized to evaluate treatment efficacy. Results suggested CBT reduced or eliminated behavioral avoidance, specific phobia symptoms, and subjective fear. Negative vocalizations were reduced during height exposure following treatment. Vocalizations following treatment for water phobia were less clear and may have been indicative of typical 7-year-old protests during bath time. Findings indicate CBT can be effective for treating clinical fears in an individual with developmental disabilities and severe behavior. Future research in this population should examine CBT as an alternative to other techniques (e.g., forced exposure) for treating fears.

Child↗

PubMed2006

Dental management of a patient with takotsubo cardiomyopathy: a case report.

Takotsubo cardiomyopathy (TCM) is a relatively new concept in cardiovascular disease. The clinical symptoms of TCM are similar to those of a myocardial infarction, but both the mechanism and the management of TCM are different from those of myocardial infarction. The cause of TCM is unclear, but it is suggested to occur in conjunction with excessive circulating catecholamines due to stress. Thus, control of the stress reaction and restriction of catecholamine levels are considered important for prevent of TCM onset. We report the dental management of a patient with intellectual disability who had anamnesis of TCM and cardiopulmonary arrest under restraint during a previous dental appointment in another dental clinic. We used intravenous sedation with both midazolam and propofol, by which the excessive hormonal reaction that caused TCM onset and cardiopulmonary arrest was controlled, for dental treatment in our facility. All planned dental treatment was then performed without any problems.

Adult↗

PubMed2026

Clinical and biochemical footprints of inherited disorders of autophagy.

Autophagy is an evolutionarily conserved lysosomal recycling system that integrates nutrient sensing, organelle quality control, proteostasis, cellular stress responses and metabolic adaptation. Autophagy is particularly relevant for post-mitotic tissue such as neurons, skin, and immune cells. Monogenic disorders disrupting autophagy or closely coupled endolysosomal trafficking pathways have recently emerged as a recognizable group of inherited metabolic diseases. These conditions are individually rare inborn errors of metabolism and collectively important because they bridge neurodevelopmental, neuromuscular and neurodegenerative disorders, including hereditary forms of Parkinson's disease, spastic paraplegias and neurodegeneration with brain iron accumulation. Multisystem involvement is common but variable. The prototypic disorder is EPG5-related Vici syndrome, in which defective autophagosome-lysosome fusion causes severe neurodevelopmental and multisystem disease. Other disorders may affect any step of the pathway, from phosphatidylinositol 3-phosphate effector biology and ATG conjugation/lipidation to autophagosome maturation, ATG9 trafficking, HOPS/CORVET-related vesicle trafficking (including VPS16 and VPS33A), autophagosome-lysosome fusion, autolysosome reformation and lysosome-mTOR signaling. Clinically, affected individuals commonly present with global developmental delay and/or intellectual disability, epilepsy, movement disorders including dystonia, parkinsonism, ataxia and spasticity, and both neuropathic and myopathic neuromuscular manifestations. A biphasic course with progressive neurodegeneration and variable multisystem (including ocular, cardiac, immunological, cutaneous and growth) involvement are important clinical clues. Diagnosis relies on careful phenotyping, brain MRI, targeted metabolic exclusion of mimics, genomic sequencing and functional assays in patient-derived cells as required. Supportive multidisciplinary management is essential. No disease-modifying therapy is currently established in humans, but pathway-based cellular assays, model systems and small-molecule or gene-replacement strategies are creating a rational therapeutic pipeline. Importantly, IEMbase dyadic nomenclature with system-level clinical annotations provides a standardized framework for quantifying shared phenotypic signatures across these ultra-rare conditions. This review summarizes pathobiochemistry, genetics, clinical presentation, diagnosis and treatment prospects for inherited disorders of autophagy.

Autophagosome↗

PubMed2026

DDX3X overexpression in mice can cause rapid tissue-specific toxicity and mortality.

DEAD-Box Helicase 3 X-Linked (DDX3X) is a ubiquitously expressed RNA helicase with diverse cellular roles implicated in a neurodevelopmental disorder called DDX3X syndrome. Although DDX3X is a leading genetic cause of intellectual disability in females, there is no treatment. While gene supplementation is a plausible therapeutic strategy, previous studies suggest DDX3X is carefully regulated and dose sensitive. To understand the consequences of overexpressing DDX3X with unregulated adeno-associated virus-mediated gene supplementation, we generated a vector driving strong ubiquitous DDX3X expression and administered it through a direct cerebrospinal fluid injection in newborn mice. Mice injected with a high dose died within 1 week from myocardial degeneration. Increased expression of stress response markers together with elevated apoptotic signaling in the heart suggested activation of stress-induced apoptotic pathways. Incidental findings included excess lipid accumulation, most prominent in the liver, and other liver injury. The innate immune system was also highly activated in the heart and liver. Interestingly, the brain was overall unaffected. The results suggest that DDX3X overexpression can cause rapid transgene-driven, tissue-specific toxicity, underscoring the need for tight DDX3X gene dosage control. These findings illustrate the possibility for improper transgene expression to drive severe toxicity including death within days following administration.

Animals↗

PubMed2002

A theoretical framework for understanding self-report and observational measures of pain: a communications model.

Self-report and observational measures of pain are examined from the perspective of a model of human communication. This model examines the experience of pain as affected by intrapersonal and contextual factors, the process whereby it is encoded into expressive behaviour, and the process of decoding by observers prior to their engaging in action. Self-report measures primarily capture expressive pain behaviour that is under the control of higher mental processes, whereas observational measures capture behaviour that is less subject to voluntary control and more automatic. Automatic expressive behaviours are subject to less purposeful distortion than are behaviours dependent upon higher mental processes. Consequently, observational measures can be used and have clinical utility as indices of pain when self-report is not available, for example, in infants, young children, people with intellectual disabilities or brain damage, and seniors with dementia. These measures are also useful when the credibility of self-report is questioned and even when credible self-report is available. However, automatic behaviours may be more difficult for observers to decode. The model outlined herein takes into account the role of various human developmental stages in pain experience and expression and in understanding the utility of self-report and observational measures. We conclude that both observational and self-report measures are essential in the assessment of pain because of the unique information that each type contributes.

Humans↗

PubMed2003

Bridging the equity gap: health promotion for adults with intellectual and developmental disabilities.

Health is influenced by political, economic, social, cultural, environmental, behavioral and biological conditions--either positively or negatively. Health promotion aims to make these factors more favorable through health advocacy. Advocating for physical, mental, and social health requires that individuals with I/DD have opportunities to identify and realize their aspirations, develop the capacity to satisfy their needs, and possess the ability to adapt and/or cope with the environment. Because health is both an individual and a social responsibility, effective health promotion strategies must incorporate linkages between health and development, particularly for vulnerable and disadvantaged groups where deprivation in health and economic resources exist simultaneously and reinforce each other [6]. Incorporating health and development at the core of health promotion activities addresses issues of poverty, poor health, and unemployment, while accounting for social, cultural and economic differences. Health promotion enables people with I/DD to achieve their health goals by ensuring equal opportunities and resources. This includes having supportive environments, access to information, and life skills and opportunities to make healthy choices. People cannot achieve their health goals unless they can control health determinants. Health promotion efforts require coordinated action from all interested groups (e.g., government entities, health and other social and economic sectors, nongovernmental and voluntary organizations, local authorities, industry and media), including individuals, families and communities. Community-based health promotion emphasizes community participation, along with empowerment of community members to address inequities and increase control over their health [3]. Individual satisfaction and participation are critical components in community coalitions that are providing health promotion programs. Moreover, community leadership, shared decision-making, linkages with other organizations, and organizational climate can predict satisfaction, participation, and planning. Health becomes a resource for everyday life when individuals with I/DD are empowered and can participate in health promotion activities that are based in their community.

Adolescent↗

PubMed2003

Pregnancy termination following prenatal diagnosis of serious heart disease in the fetus.

BACKGROUND AND AIMS: The fetal diagnosis of complex congenital heart disease (CHD) leads to a crisis for the affected couple. How much more so when a decision is made to terminate the pregnancy? In making that decision do the parents understand the anomaly, its consequences and possible outcome and does that information influence their decision process? METHODS AND SUBJECTS: Questionnaires were developed. They were forwarded to parents seen in a private obstetric ultrasound practice, diagnosed with, or specifically referred, because of the diagnosis of a complex cardiac anomaly in the fetus. The diagnosis was subsequently confirmed by ultrasound examination in the presence of a paediatric cardiologist, in all but one patient. Once confirmed, both the obstetric ultrasonologist and cardiologist explained the anomaly, both working off each other, the obstetrician acting as the parent's advocate, asking and "demanding" explanations in lay terms, clarifying the nature of the anomaly, its possible consequences in the newborn and childhood, the need for intervention, and the short- and long-term risks, concentrating on quality of life issues. The parents were given the opportunity to meet with the cardiologist separately to clarify the diagnosis and management, before coming to a final decision to continue or terminate the pregnancy. RESULTS: Over a 3-year period, 40 such patients were included in the study, of which 13 opted for termination. The anomalies were complex and included hypoplastic left heart syndrome, univentricular heart and atrioventricular septal defect. The three autopsies carried out confirmed the prenatal diagnosis. Completed questionnaires were received from nine couples, two being lost to follow up and two refusing to complete the questionnaire despite telephone contact. All nine responses stated the explanation given was "very clear" or "clear", the detail covered was "just right", and their understanding of the diagnosis was "good " to "excellent". Eight stated they were very distressed following the diagnosis, and seven experienced great difficulty in arriving at a decision. In contrast, two stated that the decision was "easy" or "very easy". The reasons for termination included concern for the welfare of the affected child, other siblings in the family and because of the distress of the parents themselves. Intellectual disability was given as an additional reason in the three who had associated chromosomal abnormalities. CONCLUSIONS: Although the numbers were small, it would appear that the above approach used by an obstetric ultrasonologist and cardiologist, working together, explaining complex congenital heart disease in lay terms and focusing on the need for intervention, functional outcome and quality of life issues, provided the parents with a reasonable understanding of the anomaly. Nevertheless, the decision to terminate, very difficult for nearly all the couples, seemed to be based on the perceived distress of the affected infant/child, the siblings and parents themselves. While three couples were grateful for an opportunity to respond, two refused, suggesting the need for more detailed follow up and support for those parents who decide to terminate an apparently wanted pregnancy.

Abortion, Eugenic↗

PubMed2000

Cognitive and behavioral problems in children with centrotemporal spikes.

Atypical features in benign epilepsy of childhood with centrotemporal spikes (BECTS) are not uncommon. There are children with BECTS who do not have a benign outcome in terms of neuropsychologic functioning. BECTS have been linked with Landau-Kleffner syndrome (LKS) and continuous spikes and waves during slow sleep (CSWS). At the Medical College of Georgia from January 1988 to June 1999, 78 children, ages 2-16 years, were identified to have electroencephalogram evidence of centrotemporal spikes. Their medical records were reviewed for developmental history, behavioral problems, and school performance. Children with structural lesions/other epileptic syndromes were excluded. Fifty-six demonstrated a history of clinical seizures compatible with BECTS and 22 demonstrated centrotemporal spikes without clinical seizures. Among all children with centrotemporal spikes, 9% (n = 7) were diagnosed with mild intellectual disability (intelligence quotient < 70), 10% (n = 8) with borderline functioning, 31% (n = 24) with behavioral problems, and 17% (n = 13) with specific learning disabilities. Three children with BECTS experienced language delay and regression. Seizure control for BECTS usually is achieved without much difficulty, with excellent long-term prognosis. However, the data presented indicate that a large number of BECTS patients exhibit learning or behavior problems that require intervention. A small number may demonstrate language outcome similar to children with LKS and CSWS.

Adolescent↗

PubMed2001

Characteristic neuropathology and plasticity in periventricular leukomalacia.

The brains of extremely low-birth-weight infants with periventricular leukomalacia, who survived for more than 30 days, were examined by means of neuropathologic and immunohistochemical methods. The characteristic neuropathology of the brain is comprised of spongy changes with astrogliosis, a widespread distribution (i.e., in the deep to intermediate white matter), and a diffuse distribution of associated recent lesions. Also, these lesions, both remote and recent, are located in the frontal to occipital lobes. Regarding the correlation between the lesions and transneuronal connecting fibers, the lesions involved fibers of the motor, sensory, visual, and higher cerebral functions. This involvement may cause motor and intellectual disabilities. Furthermore, immunohistochemistry demonstrated nestin-positive astrocytes, and neurons increased around the lesions, suggesting the plasticity of the brains.

Age Factors↗

PubMed2000

Correlation between cerebrovascular maturity and periventricular leukomalacia.

This study disclosed the close correlation between the characteristic developmental change of human cerebral vessels and the occurrence of periventricular leukomalacia (PVL), as judged by anticollagen type 6 immunohistochemical analysis. The earlier appearance of collagen type 6-positive vessels in the deep white matter supports the concept that the medullary vein, a terminal branch of the internal cerebral vein, develops earlier than the cortical and subcortical veins and the perforating artery because the latter was not stained in early gestation. In cases with an old lesion of PVL the distribution of the lesions with abnormal vessels differed with gestation age. These results suggest that its distribution correlates with the development of perforating medullary arteries. Thus a discrepancy between the arteries, revealing slow maturation, and veins, revealing early maturation, in the deep white matter may be an important predisposing factor for PVL. Furthermore, the widespread lesions of PVL may be closely related to the involvement of transcortical tract damage, in terms of specific motor or intellectual disabilities.

Brain↗

PubMedDate not supplied

Acquisition of incidental information during instruction for a response-chain skill.

We examined the acquisition of incidental information and observational learning of incidental information by adolescents with moderate intellectual disabilities during school-directed systematic instruction. Effectiveness of constant time-delay instruction for vocational-skill acquisition was evaluated within a multiple-probe design across six dyads. Dyadic instructional arrangements allowed the assessment of incidental information acquired through observation. The constant time-delay procedure was effective in teaching the target vocational skill. In addition, participants acquired and retained approximately 50% of the incidental information to which they were exposed during the consequent events of constant time-delay instruction either through direct verbal presentation or through observation of their peers' instruction.

Adolescent↗

PubMedDate not supplied

Aggression and the termination of "rituals": a new variant of the escape function for challenging behavior?

Aggression and stereotyped behaviors are not uncommon among people with intellectual disabilities and they are often treated separately as operant behaviors. In this single case study, it is argued that the function of a young woman's aggressive behavior appeared to be that of avoiding or escaping the termination of a chain of complex stereotyped behavior (or "ritual"). She became aggressive only when this chain of stereotyped behavior was terminated and the aggression appeared to extinguish when it no longer led to escape from the termination of the "ritual". It is suggested that this is an example of a complex interaction between two behaviors and that it illustrates the need for very careful analysis of the functions of challenging behavior. Furthermore, it is proposed that the lengthening list of variables already documented as determinants of challenging behavior (provision of attention (verbal and physical), mechanical restraint, sensory or tangible events, escape from demands or from social attention, denials, escape from intrusive medical procedures, escape from task difficulty) be lengthened to include the possibility of escape from (or avoidance of) the interruption of a chain of complex stereotyped behavior or "ritual".

Adult↗