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PubMed2004

Patients with disabilities and complex communication needs. The GP consultation.

BACKGROUND: People with complex communication needs vary in terms of their underlying disability and the methods and strategies they use to communicate. OBJECTIVE: This article describes the varied communication profiles that a general practitioner is likely to encounter in patients with disabilities, and the various types of augmentative and alternative forms of communication that might be used in such consultations. DISCUSSION: This article provides strategies to facilitate doctor-patient communication involving patients with complex communication needs, some of which are illustrated in a case study of a young woman with an intellectual disability.

Adult↗
PubMed1999

A research-oriented framework for risk assessment and prevention of Children's exposure to environmental toxicants

Learning disabilities, intellectual retardation, dyslexia, attention deficit/hyperactivity disorder, autism, and propensity to violence affect millions of U.S. citizens and are diagnosed in an estimated 3% of all children born in the United States. The consequences of these neurological, developmental, and behavioral disorders are often tragic; their familial, societal, and economic costs are immense, and the resulting disabilities lifelong. Toxic chemicals in the environment--lead, polychlorinated biphenyls, mercury, and certain pesticides--are now known to cause some fraction of neurodevelopmental disabilities. The implications of this discovery for prevention are potentially enormous; developmental disorders of toxic origin can, in theory, be prevented through the identification, characterization, and elimination of toxic environmental exposures. However, serious impediments to prevention exist: too few chemicals are tested for toxicity to early brain development, knowledge of infants' and children's special vulnerabilities and unique exposures is scant, and paradigms for environmental risk assessment have only begun to address the hazards confronting infants and children.

Journal Article↗
PubMed2002

Coping potential and disability--sense of coherence in adults with cerebral palsy.

PURPOSE: The aim of the present study was to investigate sense of coherence (SOC) in adults with cerebral palsy (CP) compared to the general population. METHOD: A questionnaire was sent to a representative sample of adults with CP, including the 3-item version of SOC and items on their life situation and follow-up programmes. The study included persons over 18 years of age with CP and without intellectual disability. The results were compared with the results from a reference group. RESULTS: The 406 respondents with CP (48.5% females, 51.5% males) were 18-72 years of age. The distribution of the different types of CP coincided with international epidemiological studies. Mean SOC was significantly lower in the adults with CP than in the reference group. The largest difference was found in the domain of comprehensibility. The factors most important in relation to SOC were level of education, marital status, life satisfaction and fatigue. CONCLUSIONS: Early experiences of predictability, balance between challenges and personal resources and finding these challenges worthy of investment, are prerequisites for developing sense of coherence. The present study suggests that these factors are less present in early socialization of persons with CP compared to the general population, and underlines the need for follow-up programmes that emphasize existential aspects and coping strategies.

Adaptation, Psychological↗
PubMed2003

Pallister-Mosaic syndrome and neuronal migration disorder.

We diagnosed Pallister-Mosaic syndrome (PMS) in a 4-month-old female infant. In addition to the presence of non-specific anomalies, involving anorectal, finger and ear anomalies, characteristic cranio-facial features and irregular skin lesions that appeared after age 2 months suggested the possibility of genetic mosaicism, PMS in particular. Fluorescence in situ hybridization technique revealed an extra copy of chromosome 12p; i (12p) in 30% of cultured skin fibroblasts. When focal skin lesions accompany neurodevelopmental disabilities in early infancy, genetic analysis for mosaicism should be considered for differential diagnosis. Significantly, we describe several phenotypic features and neuroimaging findings of the PMS in the present case, which have not been described in previous reports. The neuroimaging abnormalities we encountered, such as polymicrogyria, speculating congenital brain anomaly, may explain the severe motor and intellectual disabilities of PMS.

Brain Mapping↗
PubMed1991

Neuropsychologic (cognitive) disabilities in long-term survivors of childhood cancer.

Intelligence and academic achievement testing of long-term survivors of childhood cancer reveal a high incidence of memory deficits, visual-spatial skill impairment, and attention deficit disorders. While the results of various studies must be interpreted carefully, the data available identify CNS irradiation and the toxic synergism of CNS irradiation and intrathecal chemotherapy as primary etiologic factors in the neuropsychologic sequelae of curative therapy. Early education intervention is mandatory to identify survivors of childhood cancer who require assistance in overcoming intellectual disabilities.

Attention Deficit Disorder with Hyperactivity↗
PubMed2004

Childhood autism spectrum disorder in the Barwon region: a community based study.

OBJECTIVE: To establish a community database for children with autism spectrum disorder (ASD) to determine prevalence and identify subgroups based on key intellectual, clinical and family parameters. METHODS: Data were collected for children previously diagnosed with an ASD in the Barwon region using parental interview and review of the child's paediatric and psychological records. Preschool diagnoses were typically made by specialist psychologists and school-age diagnoses made by a multidisciplinary team. RESULTS: One hundred and seventy-seven children in the Barwon region were identified as having ASD (82% response rate). The prevalence of ASD was one per 255 children aged two to 17 years. The prevalence increased 10 fold over a 16-year period and this increase was relatively even across all levels of child intellectual functioning. Forty-two percent of children were intellectually disabled (IQ < 70) and performance IQ was significantly higher than verbal IQ but typical block design-comprehension subtest patterns were not common. Nine sibling pair families were identified, 24% were labelled as having attention deficit hyperactivity disorder (ADHD), 6% had epilepsy, and 18.3% were macrocephalic where data were available. Family difficulty was associated with the degree of obsessions/rituals, frequency and intensity of anger/aggression, and ADHD but overall was not associated with the child's intellectual status. CONCLUSIONS: The relatively rapid increase in prevalence is consistent with overseas studies and suggests significant changes in diagnostic criteria, increasing community awareness and the need for support at all levels of intellectual functioning. Increased occurrence in siblings and relatives gives further evidence for a genetic cause.

Adolescent↗
PubMed2002

Prader-Willi syndrome, compulsive and ritualistic behaviours: the first population-based survey.

BACKGROUND: Obsessive-compulsive disorder has been reported in association with Prader-Willi syndrome. AIMS: To report the nature and prevalence of compulsive and similar symptoms associated with Prader-Willi syndrome in a population ascertained as completely as possible. METHOD: Attempted complete ascertainment of people with Prader-Willi syndrome in eight English counties. Administration of standardised rating scales and a structured interview. Comparison with people with learning disability and high body mass indices. RESULTS: Prader-Willi syndrome was associated with high rates of ritualistic behaviours, such as the need to ask or to tell something, insistence on routines, hoarding and ordering objects and repetitive actions and speech, compared with the control group, and was negatively correlated with IQ and socialisation age. Typical obsessive-compulsive symptoms, such as checking, counting and cleaning compulsions or obsessional thoughts, were not found. CONCLUSIONS: Ritualistic and compulsive behaviours occur more frequently in association with Prader-Willi syndrome than among people with intellectual disability and significant obesity.

Adolescent↗
PubMed2006

Rater bias and the measurement of support needs.

BACKGROUND: The development and use of support need instruments for funding disability services is a relatively recent initiative. Although the use of these measures appears at face value to provide an objective measure of support needs, little is known about their psychometric properties, particularly with respect to rater bias and purpose of assessment. A measure of support that has been developed in Australia to provide estimates of service needs and associated funding is the Service Need Assessment Profile (SNAP). METHOD: This study investigated whether SNAP scores obtained for different assessment purposes - research and funding - are affected by rater bias, by comparing SNAP to 3 other measures of support from 29 people with intellectual disabilities. RESULTS: We found that SNAP scores completed for funding purposes showed an individual's support needs to be much greater than comparison scores on both SNAP and the 3 other measures obtained for research purposes. CONCLUSIONS: Our results suggest that support measures such as SNAP may significantly overestimate support needs when raters know the assessment is being used for funding purposes.

Activities of Daily Living↗
PubMed2005

[Effect of intrapulmonary percussive ventilation in a severely disabled patient with persistent pulmonary consolidation].

An intrapulmonary percussive ventilator (IPV) improves airway clearance and lung function, and is useful for wide variety of respiratory disorders, such as cystic fibrosis, chronic obstructive pulmonary disease, aspiration pneumonia, and neuromuscular diseases. However, there are few reports on IPV use in patients with severe neurological impairment, scoliosis and thoracic deformity. They have poor mobility of the rib cage and difficulty in sputum expectoration. The use of IPV significantly improved persistent consolidation shown by chest computed tomography (CT) in one of such patients. The patient was a 33-year-old woman with severe spastic quadriplegia and tracheostomy and she was dependent on mechanical ventilation because of chronic restrictive respiratory failure. After fever and mild hypoxemia for one day, chest CT revealed consolidation of the left lower lobe. An IPV-I ventilator was used for 15 min once a week, with a stroke frequency of 250-300 cycles/min and pressure of 22 PSI. Mechanical ventilation was withheld during the IPV therapy. Chest physiotherapy was also done. According to the worsening of the consolidation on chest CT, the frequency of IPV was changed to once a day at day 23 and then to twice a day. Chest CT at day 44 showed further improvement. In patients with severe motor and intellectual disabilities, it is sometimes difficult to control progressive deterioration of pulmonary function and persistent atelectasis even with tracheostomy, mechanical ventilation, and conventional physiotherapy. Our results indicate that IPV may improve respiratory functio and the quality of life in such patients.

Adult↗
PubMed1991

Tuberous sclerosis complex in Olmsted County, Minnesota, 1950-1989.

The incidence of tuberous sclerosis complex in Olmsted County, Minnesota, was 0.28 per 100,000 person-years from 1950 through 1989, the point prevalence on December 31, 1989, was 6.9 per 100,000 persons, and the incidence at birth was 6.0 per 100,000 live births. The incidence was 0.13 per 100,000 person-years from 1950 through 1974 and 0.46 per 100,000 person-years from 1975 through 1989. The higher rate of diagnosis during the later period is believed to be due to the use of computed tomography. Of the 12 patients considered in this study, one patient presented with seizures and severe intellectual disability, six patients presented with seizures, three patients presented with multiple facial angiofibroma, and two patients were asymptomatic.

Female↗
PubMed1987

Further evidence for dementia of the prefrontal type in schizophrenia? A controlled study of teaching the Wisconsin Card Sorting Test.

Recent physiological and cognitive studies of schizophrenia have implicated dysfunction of prefrontal cortex as a possible explanation for some of the disabling intellectual and social aspects of the disorder. To investigate the potential reversibility of cognitive deficits and the role of state variables, eg, attention and motivation, three groups of patients with schizophrenia were administered the Wisconsin Card Sorting Test on six consecutive occasions. Two of the groups received incremental information on how to do the test, including explicit card-by-card instruction. The third group served as a control. Regardless of the degree of instruction, patients who could not do the test could not learn it. The deficit did not appear generalized, as patients were able to learn word lists on the Selective Reminding memory test and were not globally demented on the Mini-Mental State Examination. These data suggest that prefrontal-type cognitive deficits in schizophrenia may be more profound than is generally appreciated.

Adult↗
PubMed1997

Manifestations in institutionalised adults with Angelman syndrome due to deletion.

Undiagnosed institutionalised patients were reviewed in an attempt to identify those with Angelman syndrome (AS). The aim was to test these patients for deletion of chromosome 15(q11-13) and to describe the adult phenotype. The selection criteria included severe intellectual disability, ataxic or hypermotoric limb movements, lack of speech, a "happy" demeanour, epilepsy, and facial appearance consistent with the diagnosis. Patients were examined, medical records perused, and patients' doctors contacted as required. Genetic tests performed included routine cytogenetics, DNA methylation analysis (with probe PW71B), and fluorescence in situ hybridisation (with probes D15S10, GABRbeta3, or SNRPN). A deletion in the AS region was detected in 11 patients (9 males and 2 females) of 22 tested. The mean age at last review (March 1996) was 31.5 years (range 24 to 36 years). Clinical assessment documented findings of large mouth and jaw with deep set eyes, and microcephaly in nine patients (two having a large head size for height). No patient was hypopigmented; 1/11 patients was fair. Outbursts of laughter occurred in all patients but infrequently in 7/11 (64%) and a constant happy demeanour was present in 5/11 (46%). All had epilepsy, with improvement in 5/11 (46%), no change in 4 (36%), and deterioration in 2 (18%). The EEG was abnormal in 10/10 patients. Ocular abnormalities were reported in 3/8 patients (37.5%) and 4/11 (36%) had developed kyphosis. Two had never walked. All nine who walked were ataxic with an awkward, clumsy, heavy, and/or lilting gait. No patient had a single word of speech but one patient could use sign language for two needs (food and drink). Our data support the concept that AS resulting from deletion is a severe neurological syndrome in adulthood. The diagnosis in adults may not be straightforward as some manifestations change with age. Kyphosis and keratoconus are two problems of older patients.

Abnormalities, Multiple↗
PubMed1999

Familial aggregation in Rett syndrome: what is the evidence for clustering of other disorders in families of affected girls?

Rett syndrome is a neurodevelopmental disorder of unknown cause which affects girls almost exclusively. Apparently normal development in the first year of life is usually followed by loss of skills and the development of stereotypic hand movements. This study has used genetic epidemiological methods including a case control design to examine the evidence for aggregation of other disorders in families of girls with Rett syndrome. In one family there were two sisters with a condition consistent with Rett syndrome. Intellectual disability was not reported more commonly in case families (P = 0.46). However, "learning problems" were slightly commoner (P = 0.05) especially in the parental generation (P = 0.02) and these findings warrant further investigation. Mental illness and seizures were not reported at an increased prevalence. However, we would recommend the use of other strategies to collect information about psychiatric illness. Spinal curvature was reported more commonly in case families (P = 0.07) but no mechanism for clinical verification of this was included in the study. There was an apparent increase in bowel problems in the parents (P = 0.04). The major weaknesses of our study were our inability to validate any diagnosis clinically and the lack of power (due to the comparative rarity of the outcomes). The strengths are that we have been able to collect pedigree data on the families of a substantial proportion of a total population of girls with Rett syndrome and to collect comparative data from a control population. Our reported findings warrant further investigation in a larger study.

Case-Control Studies↗
PubMed1999

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two-thirds of the cases are sporadic and appear to represent new mutations. With the cloning of two causative genes, TSC1 and TSC2 it is now possible to analyze both genes in TSC patients and identify germline mutations. Here we report the mutational analysis of the entire coding region of both TSC1 and TSC2 genes in 126 unrelated TSC patients, including 40 familial and 86 sporadic cases, by single-stranded conformational polymorphism (SSCP) analysis followed by direct sequencing. Mutations were identified in a total of 74 (59%) cases, including 16 TSC1 mutations (5 sporadic and 11 familial cases) and 58 TSC2 mutations (42 sporadic and 16 familial cases). Overall, significantly more TSC2 mutations were found in our population, with a relatively equal distribution of mutations between TSC1 and TSC2 among the familial cases, but a marked underrepresentation of TSC1 mutations among the sporadic cases (P = 0.0035, Fisher's exact test). All TSC1 mutations were predicted to be protein truncating. However, in TSC2 13 missense mutations were found, five clustering in the GAP-related domain and three others occurring in exon 16. Upon comparison of clinical manifestations, including the incidence of intellectual disability, we could not find any observable differences between TSC1 and TSC2 patients. Our data help define the distribution and spectrum of mutations associated with the TSC loci and will be useful for both understanding the function of these genes as well as genetic counseling in patients with the disease.

Codon, Nonsense↗
PubMed1985

MMPI correlates of verbal-intellectual deficits in patients with left hemisphere lesions.

This study investigated the emotional adjustment of patients (N = 31) with left hemisphere damage (LHD) as a function of the degree of impairment in verbal intelligence as measured by the Wechsler Adult Intelligence Scale. A multivariate comparison was made of the composite MMPI profiles of three groups of LHD patients classified according to Verbal IQ. The three groups produced fairly similar composite profiles, which indicated the presence of mild dysphoria, dissatisfaction, withdrawal, decreased initiative, and mild somatic preoccupations. Significant correlations emerged between the degree of verbal-intellectual disability and MMPI F, PT, SC, and SI. However, when the variance in MMPI scores due to premorbid status (education) was partialled out, these correlations dropped to nonsignificant levels. These findings failed to support previous studies that linked verbal deficits with emotional disturbance, and they underscore the importance of premorbid intelligence in the psychological adjustment to organic impairment.

Adult↗
PubMedDate not supplied

Comparative survival advantage of males with Down syndrome.

In virtually all countries life expectancy is longer in females than in males. A multigeneration, population-based dataset was used to investigate whether a gender-specific difference in life expectancy could be determined in a large cohort (n = 1,332) of people with Down syndrome resident in Western Australia. Contrary to the established pattern of longevity in the general population, and in most people with intellectual disability, males with Down syndrome had a significantly greater life expectancy than females with the same disorder. The reasons for this atypical finding are discussed in terms of the patterns of morbidity experienced by people with Down syndrome, especially at early and late stages of their lifespan.

Adolescent↗