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Pregnancy and perinatal factors associated with persistently low Apgar scores: an analysis of the birth records of infants born in South Australia.

This study included all newborns with Apgar scores below seven at one minute after birth who were born in 1986 and whose births were notified to the South Australian Perinatal Statistics Collection. Univariate comparisons were made of the demographic, obstetric and pregnancy outcome characteristics of the 301 newborns whose Apgar scores remained below seven at five minutes and the 3165 whose scores recovered to seven or more. The results provide a general risk profile of the 301 newborn infants who perform poorly at birth, as indicated by a low Apgar score at both one and five minutes. Adverse risk factors identified in this study were similar to those for intellectual disability (mental retardation) and cerebral palsy in South Australia. It is suggested that persisting low Apgar scores, when combined with the other risk factors demonstrated in this and previous studies, would provide more reliable prognostic information than would Apgar scores alone. The study also shows that the majority of infants with low Apgar scores at one minute scored seven or better at five minutes. This demonstrates, that although a low one minute Apgar score has value in identifying newborns in need of immediate attention, it must be supplemented by the five minute score's stronger association with perinatal morbidity.

Apgar Score↗

Oral self-mutilation in a patient with rhombencephalosynapsys.

Rhombencephalosynapsis (RS) is a rare cerebellar malformation. Its essential features are the absence of the incisura cerebelli posterior, fusion of the cerebellar hemispheres, the absence of the velum medullare anterius and nuclei fastigii, and fusion of the dentate nuclei, which are shifted towards the mid-line. Clinically, affected patients present with signs of cerebellar and motor disturbances. The present report describes a new patient affected by RS. The subject first presented at the age of 22 years because of a psychiatric symptomatology which was characterized by obsessive oral self-mutilation associated with an intellectual disability. Objective evaluation documented dysmorphic features, while neurological examination showed only a slight truncal ataxia. The subject's IQ was 74 on the Wechsler Scale (verbal IQ = 79, performance IQ = 74). Psychiatric evaluation with DSM-IV criteria documented an obsessive-compulsive personality disorder associated with emotional instability and oral self-mutilation. The typical picture of rhombencephalosynapsis was evident on magnetic resonance imaging. Both chromosomal analysis and routine biochemical investigations were normal. The relationship between oral self-injurious behaviour and cerebellar malformations is discussed with particular regard to the behavioural aspects of cerebellar congenital pathology in affective disorders and in autism.

Adult↗

Challenging behaviour: a challenge to change.

People with intellectual disability often exhibit severe behavioural problems. Treatment of these problems is frequently very difficult. In The Netherlands, parents, institutes, schools and others can request the services of an independent advisory team with a pool of professionals who have experience with individuals who exhibit challenging behaviour. In this article the methods of the team will be described using a 24-year-old man as an example. The process took almost 7 years. Finally, this man, who had been living full time in one room in total isolation from the rest of the world, fulfilled his heart's desire--visiting the UK by Hovercraft.

Adult↗

Variables influencing the ratings of importance and use of quality of life domains and indicators by Polish professionals.

BACKGROUND: Interest in the concept of quality of life (QOL) as a category guiding the development and provision of services for individuals with intellectual disabilities (ID) in Poland is increasingly being observed. Its presence in rehabilitation and care is strongly associated with the assessment of importance and use of QOL domains and indicators by Polish professionals. METHOD: The present study examined the differences related to selected demographic variables in the assessment of importance and use of eight QOL domains made by professionals in Poland working with persons with ID. RESULTS: The evaluation of the importance and use of eight QOL domains and their indicators is related significantly to professionals' level of education, place of work, and total years of work. CONCLUSIONS: The perception of professionals cannot be overlooked when considering the development and provision of QOL-related services and supports.

Adult↗

Using an epidemiological approach to examine outcomes affecting young children with Down syndrome and their families.

In this paper, we utilise an approach drawn from the field of epidemiology to explore what is known and unknown about young children with Down syndrome and their families. After describing what we mean by an epidemiological approach, we review basic findings for children with intellectual disabilities, as well as challenges to performing such research. In considering the epidemiology of Down syndrome, we note that most studies to date have focused on prevalence, mortality-life expectancy, and rates of diseases and syndrome-related health-physical problems, while neglecting many other important issues. In considering potential advances in the epidemiology of Down syndrome, then, we first overview the process of linking two or more separate administrative records, before reviewing several of our own recent studies. We end this paper by discussing four challenges to future epidemiological studies of children with Down syndrome and their families.

Child, Preschool↗

Correlates of restraint use in an institutional population: a replication.

BACKGROUND: Reducing inappropriate restraint is an important mission of services for people with intellectual disabilities (IDs). METHODS: In this study, 52 clients who had been restrained were compared with 52 other clients, individually matched on age, gender and level of IDs. Participants were mostly adults with severe and profound IDs in an institutional setting. RESULTS: The two groups differed on six Diagnostic Assessment for the Severely Handicapped-II (DASH-II) and three Aberrant Behaviour Checklist (ABC) scales. However, discriminant functional analysis demonstrated that only DASH-II Impulse control disorder and ABC Irritability and Elimination disorder scores predicted group membership but only moderately. CONCLUSIONS: Individual differences in maladaptive behaviours were only moderately predictive of restraint use.

Adult↗

The use of quality of life data at the organization and systems level.

BACKGROUND: To date researchers have given little attention to the use of quality of life (QOL) data for organization and systems-level change. This article presents two state-level examples of how QOL data are currently used in the USA. METHOD: Individuals with intellectual disability (ID) were assessed on an ongoing basis using two multidimensional QOL instruments. Data were analysed at the individual and organizational level. RESULTS: Examples of statewide data utilization include: (1) determining significant predictors of quality outcomes; (2) developing provider profiles; (3) comparing individuals with ID with those without ID; (4) developing state-level performance standards; and (5) implementing continuous programme improvement. CONCLUSIONS: The availability of this type of data allows service delivery systems to: (1) significantly alter the relationship between individual consumers and service providers; (2) open the system to scrutiny by citizens with and without ID; (3) improve responsiveness and quality outcomes; and (4) shape future directions of the service delivery system for people with ID.

Adult↗

Functional analysis and intervention to reduce self-injurious and agitated behavior when removing protective equipment for brief time periods.

The authors conducted studies that were designed to maintain low levels of hand-to-head self-injury when protective equipment was removed (i.e., rigid arm sleeves and a protective helmet) for brief time periods with an individual with profound intellectual disabilities. A series of assessments was first conducted of a topographically similar form of behavior to self-injury when the person was wearing protective equipment (i.e., hitting helmet with rigid arm sleeves). Results of these assessments indicated that head hitting (with equipment) was not sensitive to social consequences (Study 1) but that it was reduced substantially when the individual had access to items that produced vibration or vibration and sound (Study 2). A treatment protocol that included items that produced vibration and vibration with sound produced substantial reductions in attempts at self-injury and agitation when protective equipment was removed for brief time periods (Study 3).

Acoustic Stimulation↗

Consumer-based quality of life assessment: the Maryland ask me! Project.

The concept of quality of life currently impacts program development, service delivery, management strategies, and outcome evaluation in the area of intellectual disabilities. Maryland uses peer interviewers to assess consumer-perceived quality of life among adult recipients of MR/DD services and supports. In this article we describe the survey instrument and procedures and discuss assessment issues of quality of responses, acquiescence, and proxy respondents. We present the psychometric properties for eight core quality of life domains among 923 people assessed in FY 2001. Results are summarized and development of a model for enhancing social inclusion, personal development, and self-determination was described. Service and personal characteristics relating to quality of life as well as some ways the results can be used for program enhancement are discussed.

Adult↗

The Thomas S. case: report on progress with court compliance issues.

The present paper is a brief summary of the progress which has been made in the Thomas S. case, a U.S. Federal Court lawsuit The suit focused on adults with intellectual disability who had been inappropriately placed in state psychiatric hospitals in conditions which violated their constitutional rights. These constitutional rights include safety, protection from harm, treatment under safe conditions, freedom from undue restraint, and minimally adequate habilitation or treatment The present report summarizes the progress made by the 239 class members after they had received a Thomas S. service plan for 6-24 months. Overall, the results suggest that the class members have made significant progress in several areas. Two areas needing continued attention are the challenging behaviours of some class members and their lack of employment opportunities.

Adult↗

Family quality of life from the perspective of older parents.

BACKGROUND: Family quality of life is a relatively new field of study. Research has primarily concentrated on families of children and young adults with intellectual disability (ID). METHOD: This project explored the concept of family quality of life from the perspective of older parents who had adult children with ID aged 40+. Focus groups, individual interviews and surveys investigated family issues related to maintaining or enhancing family quality of life. RESULTS: Parents reported positive aspects of lifelong caregiving and quality of family life. There were concerns for the health of all family members, the social lives of their adult child, long-term living arrangements and the role of siblings. CONCLUSION: Current family and service issues that need to be addressed are related to funding and finances, staffing, and the need to adapt to age-related needs.

Adult↗

Staff reports of setting events associated with challenging behavior.

This study identified the setting events reported by caregivers as more and less likely to be associated with challenging behaviors of people with intellectual disabilities. Sixty-five staff working with 22 individuals were interviewed using a setting event inventory. Some setting events (e.g., being in a crowded room) were reported as strongly associated with challenging behavior, some (e.g., one-to-one support) as strongly associated with its absence. Some (e.g., day of week) were reported to be largely "inert"; many were idiosyncratically associated with occurrence, absence, or inertness. Different categories of setting events contributed different amounts to reported variation in challenging behavior. The inventory described here, or modified versions, may help identify relationships between setting events and challenging behaviors. The relationships reported in this study suggest ways in which service provision might be modified to help prevent challenging behavior.

Adult↗

Genes on the X chromosome are important in undiagnosed mental retardation.

The clinical genetic diagnosis was reviewed in 429 subjects with intellectual disability in the Australian Child and Adolescent Development (ACAD) study of behavioural problems. With minor differences, the overall "general distribution by causation" was similar to that to that found by the Consensus Conference of the American College of Medical Genetics in 1995. There was a significant male excess in the whole series which was shown to reside in those with "autism," those with undiagnosed nonsyndromic mental retardation (NSMR) and those with X-linked monogenic disorders. It is argued that a substantial proportion of undiagnosed NSMR is caused by genes on the X chromosome. Some of the practical problems of assigning individuals to diagnostic groups are discussed.

Adolescent↗

Applicability of a checklist for clinical screening of the fragile X syndrome.

In a population of 340,000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (> 16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993. Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome. The other 344 males were screened for the fragile X syndrome using a three-step method: a clinical checklist used by a specialist nurse, a clinical examination by a physician who was very familiar with the fragile X syndrome, and the FRAXA-locus gene test. Six new fragile X males were found. The minimum prevalence of the fragile X syndrome in the district was calculated to be 1:4400.

Adolescent↗

Minimally effective doses of conventional antipsychotic medications used to treat aggression, self-injurious and destructive behaviors in mentally retarded adults.

Retrospective review of records from 1990 to 1997 revealed unsuccessful attempts to withdraw antipsychotic medications from a total of 34 intellectually disabled individuals. The lowest dose of antipsychotic medication necessary to maintain symptom suppression and the dose at which relapse occurred were noted. Target behaviors observed indicating relapse included increased self-injurious behavior, aggression, and destructive/disruptive behaviors. Nineteen subjects received a low potency antipsychotic agent (ie, thioridazine or chlorpromazine) and 15 received a high potency antipsychotic agent (ie, haloperidol, loxapine, thiothixene). The mean lowest effective dose of chlorpromazine/thioridazine was 149.3 mg/d and relapse occurred at a mean dose of 93.6 mg/d. The mean lowest effective dose of haloperidol or related high potency drugs (expressed as haloperidol equivalents) was 5.9 mg/d, and relapse occurred at a mean dose of 3.8 mg/d.

Adult↗

Molecular genetics of X-linked mental retardation: a complex picture emerging.

Mental retardation or intellectual disability is a heterogeneous group of disorders of the human brain affecting 2-3% of the general population. It is becoming evident that a large proportion of mental retardation is genetically determined, which means that it can be molecularly defined and thus precisely diagnosed. Building knowledge and understanding about molecular processes leading to 'malfunction of human brain' will clearly bring benefits to patient management, disease prevention and ultimately disease treatment and will also assist in tackling much harder questions of the molecular basis of human cognitive ability. In this review the current knowledge of the molecular genetics of X-chromosome-linked mental retardation and its nonspecific forms in particular is discussed, together with limitations affecting diagnosis and likely new approaches that need to be implemented.

Genotype↗

The application of quality of life.

BACKGROUND: Despite its popularity, to date little systematic work has been done in the application of the quality of life (QOL) concept to persons with intellectual disability (ID) and its impact on individuals and families. This article addresses that need. METHOD: The article summarizes the four application strands suggested by the IASSID SIRG on Quality of Life regarding the application of the QOL concept and discusses critical aspects of each. RESULTS: Examples and guidelines regarding each strand are presented, along with the ongoing need to align conceptualization, application, and research efforts and integrate QOL principles into professional education and training programmes. CONCLUSIONS: The QOL concept is now challenging some of the more traditional views and approaches to ID. These challenges are resulting in modifications and adaptations in current services and supports, along with the need to evaluate the outcomes from the application of QOL principles to persons with ID.

Choice Behavior↗

Interrater reliability of the Motivation Assessment Scale: failure to replicate with aggressive behavior.

The Motivation Assessment Scale (MAS) was used to identify the variables maintaining aggressive behaviors exhibited by 18 adolescents and adults with severe to profound intellectual disability. Each client was rated by two staff members. A variety of measures were calculated to assess interrater reliability. Pearson coefficients across the 18 pairs of raters ranged from -.667 to .722 with an overall correlation of .034. Five of the 12 positive correlations were significant at the .05 level. Correlations across each of the 16 questions of the MAS ranged from -.337 to .425. None of these correlations were significant. Similarly low reliability was obtained when percentage of agreement measures were calculated, although 8 of the 18 pairs of raters (44.44%) did agree on the source of reinforcement maintaining the client's aggressive behavior. These results suggest that for some individuals the MAS may not represent a viable alternative to more formal functional analysis procedures.

Adolescent↗